---
source: src/genes/cli/data.rs
expression: records
---
- gene_name: BRAF
  ensembl_gene: ENSG00000157764
  chr: "7"
  gene_old_names: "."
  gene_other_names: BRAF1
  uniprot_acc: P15056
  uniprot_id: BRAF_HUMAN
  entrez_gene_id: "673"
  ccds_id: CCDS5863;CCDS87555
  refseq_id: NM_004333;NM_001354609
  ucsc_id: uc003vwc.5
  mim_id: "164757"
  omim_id: "164757"
  gene_full_name: "B-Raf proto-oncogene, serine/threonine kinase"
  pathway_uniprot: "."
  pathway_biocarta_short: mapkPathway
  pathway_biocarta_full: MAPKinase Signaling Pathway
  pathway_consensus_path_db: "Non-small cell lung cancer - Homo sapiens (human);Chronic myeloid leukemia - Homo sapiens (human);Gastric cancer - Homo sapiens (human);Focal adhesion - Homo sapiens (human);mTOR signaling pathway - Homo sapiens (human);Renal cell carcinoma - Homo sapiens (human);Long-term potentiation - Homo sapiens (human);Neurotrophin signaling pathway - Homo sapiens (human);Serotonergic synapse - Homo sapiens (human);Melanoma - Homo sapiens (human);Cushing,s syndrome - Homo sapiens (human);Bladder cancer - Homo sapiens (human);Long-term depression - Homo sapiens (human);Acute myeloid leukemia - Homo sapiens (human);Breast cancer - Homo sapiens (human);ErbB signaling pathway - Homo sapiens (human);FoxO signaling pathway - Homo sapiens (human);Chemokine signaling pathway - Homo sapiens (human);Regulation of actin cytoskeleton - Homo sapiens (human);Hepatocellular carcinoma - Homo sapiens (human);Glioma - Homo sapiens (human);Prostate cancer - Homo sapiens (human);cAMP signaling pathway - Homo sapiens (human);Vascular smooth muscle contraction - Homo sapiens (human);Rap1 signaling pathway - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);Natural killer cell mediated cytotoxicity - Homo sapiens (human);Proteoglycans in cancer - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Hepatitis C - Homo sapiens (human);Thyroid cancer - Homo sapiens (human);Pancreatic cancer - Homo sapiens (human);Endometrial cancer - Homo sapiens (human);Colorectal cancer - Homo sapiens (human);Alcoholism - Homo sapiens (human);Insulin signaling pathway - Homo sapiens (human);Progesterone-mediated oocyte maturation - Homo sapiens (human);Pathway_PA165959425;Sorafenib Pharmacodynamics;Vemurafenib Pathway, Pharmacodynamics;update your name in edit mode;Intracellular Signalling Through Adenosine Receptor A2b and Adenosine;Intracellular Signalling Through Adenosine Receptor A2a and Adenosine;EGF-Core;Integrin-mediated Cell Adhesion;Human Thyroid Stimulating Hormone (TSH) signaling pathway;Signaling Pathways in Glioblastoma;B Cell Receptor Signaling Pathway;Corticotropin-releasing hormone signaling pathway;Integrated Lung Cancer Pathway;Polycystic Kidney Disease Pathway;Bladder Cancer;Focal Adhesion;BDNF-TrkB Signaling;MAPK Signaling Pathway;Chemokine signaling pathway;ESC Pluripotency Pathways;Endometrial cancer;MET in type 1 papillary renal cell carcinoma;Chromosomal and microsatellite instability in colorectal cancer;MAPK Cascade;EGF-EGFR Signaling Pathway;Regulation of Actin Cytoskeleton;Senescence and Autophagy in Cancer;Estrogen signaling pathway;Serotonin HTR1 Group and FOS Pathway;Serotonin Receptor 4-6-7 and NR3C Signaling;Negative regulation of FGFR2 signaling;Signaling by FGFR2;MAP2K and MAPK activation;RAF activation;Disease;Negative regulation of FGFR3 signaling;Signaling by FGFR3;Signal Transduction;Negative regulation of FGFR4 signaling;Signaling by FGFR4;Signaling by FGFR;Spry regulation of FGF signaling;B cell receptor signaling;GPCR Adenosine A2A receptor;GPCR GroupI metabotropic glutamate receptor;GPCR signaling-G alpha q;CD4 T cell receptor signaling-ERK cascade;ARMS-mediated activation;IGF signaling;FGF;Negative feedback regulation of MAPK pathway;Neuronal System;GPCR signaling-G alpha s Epac and ERK;Signalling to p38 via RIT and RIN;IL-7 signaling;GPCR signaling-G alpha s PKA and ERK;Frs2-mediated activation;Prolonged ERK activation events;Signalling to ERKs;Signaling by NTRK1 (TRKA);Integrin;Signaling by NTRKs;EGFR1;Ras signaling in the CD4+ TCR pathway;ErbB1 downstream signaling;Negative regulation of MAPK pathway;RAF/MAP kinase cascade;MAPK1/MAPK3 signaling;MAPK family signaling cascades;JAK STAT pathway and regulation;NGF;EPO signaling;Neurotransmitter receptors and postsynaptic signal transmission;Transmission across Chemical Synapses;CREB phosphorylation through the activation of Ras;Post NMDA receptor activation events;Activation of NMDA receptor and postsynaptic events;Signaling by Receptor Tyrosine Kinases;Signaling by RAS mutants;VEGF;Signaling by high-kinase activity BRAF mutants;Signaling by moderate kinase activity BRAF mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF;mTOR signaling pathway;Signaling by BRAF and RAF fusions;Oncogenic MAPK signaling;Diseases of signal transduction;CDC42 signaling events;Downstream signaling in na&#xef;ve CD8+ T cells;Signaling events mediated by focal adhesion kinase;PDGFR-beta signaling pathway;Trk receptor signaling mediated by the MAPK pathway;Signaling events mediated by VEGFR1 and VEGFR2;Negative regulation of FGFR1 signaling;Signaling by FGFR1;CD4 T cell receptor signaling"
  pathway_kegg_id: hsa04010;hsa04012;hsa04150;hsa04510;hsa04650;hsa04720;hsa04730;hsa04810;hsa04910;hsa05210;hsa05211;hsa05212;hsa05213;hsa05214;hsa05215;hsa05216;hsa05218;hsa05219;hsa05220;hsa05221;hsa05223
  pathway_kegg_full: MAPK signaling pathway;ErbB signaling pathway;mTOR signaling pathway;Focal adhesion;Natural killer cell mediated cytotoxicity;Long-term potentiation;Long-term depression;Regulation of actin cytoskeleton;Insulin signaling pathway;Colorectal cancer;Renal cell carcinoma;Pancreatic cancer;Endometrial cancer;Glioma;Prostate cancer;Thyroid cancer;Melanoma;Bladder cancer;Chronic myeloid leukemia;Acute myeloid leukemia;Non-small cell lung cancer
  function_description: "FUNCTION: Protein kinase involved in the transduction of mitogenic signals from the cell membrane to the nucleus. May play a role in the postsynaptic responses of hippocampal neuron. Phosphorylates MAP2K1, and thereby contributes to the MAP kinase signal transduction pathway. {ECO:0000269|PubMed:21441910}."
  disease_description: "DISEASE: Note=Defects in BRAF are found in a wide range of cancers. {ECO:0000269|PubMed:18974108}.;DISEASE: Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. {ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:21917714, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}. Note=The disease may be caused by mutations affecting the gene represented in this entry.;DISEASE: Lung cancer (LNCR) [MIM:211980]: A common malignancy affecting tissues of the lung. The most common form of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. NSCLC is often diagnosed at an advanced stage and has a poor prognosis. {ECO:0000269|PubMed:12460919}. Note=The gene represented in this entry is involved in disease pathogenesis.;DISEASE: Familial non-Hodgkin lymphoma (NHL) [MIM:605027]: Cancer that starts in cells of the lymph system, which is part of the body's immune system. NHLs can occur at any age and are often marked by enlarged lymph nodes, fever and weight loss. {ECO:0000269|PubMed:14612909}. Note=The gene represented in this entry is involved in disease pathogenesis.;DISEASE: Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150]: A multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and mental retardation. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. {ECO:0000269|PubMed:16439621, ECO:0000269|PubMed:16474404, ECO:0000269|PubMed:18042262, ECO:0000269|PubMed:19206169}. Note=The disease is caused by mutations affecting the gene represented in this entry.;DISEASE: Noonan syndrome 7 (NS7) [MIM:613706]: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. {ECO:0000269|PubMed:19206169}. Note=The disease is caused by mutations affecting the gene represented in this entry.;DISEASE: LEOPARD syndrome 3 (LPRD3) [MIM:613707]: A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness. {ECO:0000269|PubMed:19206169}. Note=The disease is caused by mutations affecting the gene represented in this entry.;DISEASE: Note=A chromosomal aberration involving BRAF is found in pilocytic astrocytomas. A tandem duplication of 2 Mb at 7q34 leads to the expression of a KIAA1549-BRAF fusion protein with a constitutive kinase activity and inducing cell transformation. {ECO:0000269|PubMed:18974108}."
  mim_phenotype_id: 114500;115150;211980;605027;613706;613707
  mim_disease: "[MIM:114500]Colorectal cancer;[MIM:211980]Lung cancer;[MIM:605027]Familial non-Hodgkin lymphoma;[MIM:115150]Cardiofaciocutaneous syndrome 1;[MIM:613706]Noonan syndrome 7;[MIM:613707]LEOPARD syndrome 3"
  orphanet_disorder_id: 648;146;500;1340;251615;251615;357191;357194;58017;54595;99872
  orphanet_disorder: Noonan syndrome;Differentiated thyroid carcinoma;Noonan syndrome with multiple lentigines;Cardiofaciocutaneous syndrome;Pilomyxoid astrocytoma;Pilomyxoid astrocytoma;Selection of therapeutic option in non-small cell lung carcinoma;Selection of therapeutic option in colorectal cancer;Classic hairy cell leukemia;Craniopharyngioma;Hashimoto-Pritzker syndrome
  orphanet_association_type: Disease-causing germline mutation(s) in;Disease-causing somatic mutation(s) in;Disease-causing germline mutation(s) in;Disease-causing germline mutation(s) (gain of function) in;Disease-causing somatic mutation(s) in;Part of a fusion gene in;Biomarker tested in;Biomarker tested in;Disease-causing somatic mutation(s) in;Disease-causing somatic mutation(s) in;Disease-causing somatic mutation(s) in
  trait_association_gwas: "Mild influenza (H1N1) infection[26379185];Type 2 diabetes[28869590;28869590];Cerebrospinal T-tau levels[26252872];Cerebrospinal fluid t-tau:AB1-42 ratio[26252872];Response to Vitamin E supplementation[22437554]"
  hpo_id: "HP:0000465;HP:0000316;HP:0003006;HP:0000508;HP:0001634;HP:0010318;HP:0006695;HP:0008625;HP:0003298;HP:0002650;HP:0002617;HP:0000768;HP:0000144;HP:0007392;HP:0100542;HP:0001608;HP:0001263;HP:0001641;HP:0000974;HP:0011710;HP:0000767;HP:0001003;HP:0000028;HP:0004322;HP:0001658;HP:0000912;HP:0001511;HP:0002863;HP:0000047;HP:0001480;HP:0001482;HP:0001639;HP:0001642;HP:0002861;HP:0004306;HP:0000431;HP:0004414;HP:0011675;HP:0000248;HP:0000995;HP:0000368;HP:0001256;HP:0003691;HP:0000325;HP:0000238;HP:0000545;HP:0006191;HP:0001004;HP:0000637;HP:0000974;HP:0004422;HP:0000504;HP:0200102;HP:0000293;HP:0000316;HP:0000028;HP:0008070;HP:0000343;HP:0000391;HP:0002857;HP:0000348;HP:0000958;HP:0000276;HP:0000256;HP:0001654;HP:0000982;HP:0001639;HP:0008064;HP:0001252;HP:0002213;HP:0000508;HP:0005280;HP:0000470;HP:0007565;HP:0000463;HP:0002650;HP:0004322;HP:0008872;HP:0001582;HP:0002217;HP:0001048;HP:0000400;HP:0002120;HP:0010669;HP:0002299;HP:0001531;HP:0001263;HP:0000767;HP:0001622;HP:0000639;HP:0000486;HP:0002997;HP:0001249;HP:0001631;HP:0007392;HP:0000176;HP:0000494;HP:0000286;HP:0002967;HP:0012719;HP:0000465;HP:0003196;HP:0000126;HP:0001642;HP:0100840;HP:0000218;HP:0001260;HP:0009891;HP:0001003;HP:0007440;HP:0002007;HP:0002353;HP:0000368;HP:0002162;HP:0008391;HP:0000648;HP:0000280;HP:0001428;HP:0006519;HP:0000006;HP:0000007;HP:0010807;HP:0000463;HP:0001047;HP:0000194;HP:0001631;HP:0000520;HP:0000494;HP:0001249;HP:0001252;HP:0004322;HP:0008064;HP:0008113;HP:0002002;HP:0000639;HP:0000962;HP:0004209;HP:0009891;HP:0002217;HP:0007333;HP:0001290;HP:0003196;HP:0000689;HP:0011220;HP:0001250;HP:0000316;HP:0000767;HP:0001003;HP:0000286;HP:0009908;HP:0000268;HP:0000657;HP:0000369;HP:0007370;HP:0000938;HP:0001276;HP:0002120;HP:0008070;HP:0001642;HP:0005280;HP:0000768;HP:0001508;HP:0000126;HP:0008872;HP:0000414;HP:0001744;HP:0000341;HP:0002212;HP:0000486;HP:0002013;HP:0000545;HP:0001187;HP:0000508;HP:0000006;HP:0000238;HP:0001639;HP:0006114;HP:0000529;HP:0100703;HP:0001048;HP:0001622;HP:0000218;HP:0003477;HP:0000280;HP:0002020;HP:0000176;HP:0000358;HP:0000365;HP:0032152;HP:0000561;HP:0003577;HP:0001093;HP:0002019;HP:0001561;HP:0002223;HP:0000164;HP:0004482;HP:0000347;HP:0002750;HP:0002750;HP:0000369;HP:0000962;HP:0000470;HP:0001319;HP:0001646;HP:0007565;HP:0000006;HP:0001249;HP:0001633;HP:0001054;HP:0100543;HP:0000358;HP:0000407;HP:0000914;HP:0001250;HP:0000465;HP:0000316;HP:0001636;HP:0002212;HP:0004322;HP:0001003;HP:0005280;HP:0001249;HP:0001262;HP:0002637;HP:0001658;HP:0002516;HP:0008897;HP:0010939;HP:0001085;HP:0001259;HP:0000365;HP:0000823;HP:0002659;HP:0002719;HP:0002591;HP:0010576;HP:0012505;HP:0002315;HP:0011734;HP:0007987;HP:0002321;HP:0005978;HP:0030588;HP:0011750;HP:0002017;HP:0007924;HP:0012286;HP:0000044;HP:0430000;HP:0000870;HP:0008245;HP:0001513;HP:0001117;HP:0001250;HP:0002514;HP:0001263;HP:0000863;HP:0010535;HP:0030521;HP:0000238;HP:0000648;HP:0003508;HP:0001290;HP:0011470;HP:0004322;HP:0000369;HP:0001252;HP:0000268;HP:0005280;HP:0001520;HP:0000470;HP:0001250;HP:0011220;HP:0002967;HP:0012059;HP:0000341;HP:0000975;HP:0000465;HP:0000914;HP:0012471;HP:0009748;HP:0000494;HP:0000391;HP:0000768;HP:0030939;HP:0031162;HP:0000006;HP:0002033;HP:0001249;HP:0000306;HP:0006191;HP:0002162;HP:0008872;HP:0000316;HP:0001054;HP:0000486;HP:0000767;HP:0000953;HP:0000768;HP:0100543;HP:0002212;HP:0001382;HP:0002015;HP:0001642;HP:0000256;HP:0001642;HP:0002031;HP:0001631;HP:0000953;HP:0002650;HP:0001631;HP:0002650;HP:0001531;HP:0000508;HP:0000470;HP:0001156;HP:0000914;HP:0002664;HP:0003251;HP:0001680;HP:0002751;HP:0001642;HP:0000218;HP:0000325;HP:0004322;HP:0000028;HP:0001643;HP:0002967;HP:0000316;HP:0000006;HP:0000494;HP:0000917;HP:0000407;HP:0000286;HP:0002705;HP:0000915;HP:0000925;HP:0001004;HP:0001629;HP:0000476;HP:0000465;HP:0001249;HP:0100697;HP:0000545;HP:0004841;HP:0000368;HP:0030084;HP:0000689;HP:0002162;HP:0100769;HP:0009466;HP:0000135;HP:0001631;HP:0008897;HP:0001892;HP:0004859;HP:0001639;HP:0001425;HP:0008357;HP:0000347"
  hpo_name: "Webbed neck;Hypertelorism;Neuroblastoma;Ptosis;Mitral valve prolapse;Aplasia/Hypoplasia of the abdominal wall musculature;Atrioventricular canal defect;Severe sensorineural hearing impairment;Spina bifida occulta;Scoliosis;Dilatation;Pectus carinatum;Decreased fertility;Excessive wrinkled skin;Abnormal localization of kidney;Abnormality of the voice;Global developmental delay;Abnormal pulmonary valve morphology;Hyperextensible skin;Bundle branch block;Pectus excavatum;Multiple lentigines;Cryptorchidism;Short stature;Myocardial infarction;Sprengel anomaly;Intrauterine growth retardation;Myelodysplasia;Hypospadias;Freckling;Subcutaneous nodule;Hypertrophic cardiomyopathy;Pulmonic stenosis;Melanoma;Abnormal endocardium morphology;Wide nasal bridge;Abnormality of the pulmonary artery;Arrhythmia;Brachycephaly;Melanocytic nevus;Low-set, posteriorly rotated ears;Intellectual disability, mild;Scapular winging;Triangular face;Hydrocephalus;Myopia;Deep palmar crease;Lymphedema;Long palpebral fissure;Hyperextensible skin;Biparietal narrowing;Abnormality of vision;Sparse or absent eyelashes;Full cheeks;Hypertelorism;Cryptorchidism;Sparse hair;Long philtrum;Thickened helices;Genu valgum;High forehead;Dry skin;Long face;Macrocephaly;Abnormal heart valve morphology;Palmoplantar keratoderma;Hypertrophic cardiomyopathy;Ichthyosis;Muscular hypotonia;Fine hair;Ptosis;Depressed nasal bridge;Short neck;Multiple cafe-au-lait spots;Anteverted nares;Scoliosis;Short stature;Feeding difficulties in infancy;Redundant skin;Slow-growing hair;Cavernous hemangioma;Macrotia;Cerebral cortical atrophy;Hypoplasia of the zygomatic bone;Brittle hair;Failure to thrive in infancy;Global developmental delay;Pectus excavatum;Premature birth;Nystagmus;Strabismus;Abnormality of the ulna;Intellectual disability;Atrial septal defect;Excessive wrinkled skin;Submucous cleft hard palate;Downslanted palpebral fissures;Epicanthus;Cubitus valgus;Functional abnormality of the gastrointestinal tract;Webbed neck;Short nose;Hydronephrosis;Pulmonic stenosis;Aplasia/Hypoplasia of the eyebrow;High palate;Dysarthria;Underdeveloped supraorbital ridges;Multiple lentigines;Generalized hyperpigmentation;Frontal bossing;EEG abnormality;Low-set, posteriorly rotated ears;Low posterior hairline;Dystrophic fingernails;Optic atrophy;Coarse facial features;Somatic mutation;Alveolar cell carcinoma;Autosomal dominant inheritance;Autosomal recessive inheritance;Open bite;Anteverted nares;Atopic dermatitis;Open mouth;Atrial septal defect;Proptosis;Downslanted palpebral fissures;Intellectual disability;Muscular hypotonia;Short stature;Ichthyosis;Multiple plantar creases;Deep philtrum;Nystagmus;Hyperkeratosis;Clinodactyly of the 5th finger;Underdeveloped supraorbital ridges;Slow-growing hair;Hypoplasia of the frontal lobes;Generalized hypotonia;Short nose;Dental malocclusion;Prominent forehead;Seizure;Hypertelorism;Pectus excavatum;Multiple lentigines;Epicanthus;Anterior creases of earlobe;Dolichocephaly;Oculomotor apraxia;Low-set ears;Aplasia/Hypoplasia of the corpus callosum;Osteopenia;Hypertonia;Cerebral cortical atrophy;Sparse hair;Pulmonic stenosis;Depressed nasal bridge;Pectus carinatum;Failure to thrive;Hydronephrosis;Feeding difficulties in infancy;Bulbous nose;Splenomegaly;Narrow forehead;Curly hair;Strabismus;Vomiting;Myopia;Hyperextensibility of the finger joints;Ptosis;Autosomal dominant inheritance;Hydrocephalus;Hypertrophic cardiomyopathy;Multiple palmar creases;Progressive visual loss;Tongue thrusting;Cavernous hemangioma;Premature birth;High palate;Peripheral axonal neuropathy;Coarse facial features;Gastroesophageal reflux;Submucous cleft hard palate;Posteriorly rotated ears;Hearing impairment;Keratosis pilaris;Absent eyelashes;Congenital onset;Optic nerve dysplasia;Constipation;Polyhydramnios;Absent eyebrow;Abnormality of the dentition;Relative macrocephaly;Micrognathia;Delayed skeletal maturation;Delayed skeletal maturation;Low-set ears;Hyperkeratosis;Short neck;Neonatal hypotonia;Abnormal aortic valve morphology;Multiple cafe-au-lait spots;Autosomal dominant inheritance;Intellectual disability;Abnormal mitral valve morphology;Numerous nevi;Cognitive impairment;Posteriorly rotated ears;Sensorineural hearing impairment;Shield chest;Seizure;Webbed neck;Hypertelorism;Tetralogy of Fallot;Curly hair;Short stature;Multiple lentigines;Depressed nasal bridge;Intellectual disability;Excessive daytime somnolence;Cerebral ischemia;Myocardial infarction;Increased intracranial pressure;Postnatal growth retardation;Abnormality of the nasal bone;Papilledema;Coma;Hearing impairment;Delayed puberty;Increased susceptibility to fractures;Recurrent infections;Polyphagia;Intracranial cystic lesion;Enlarged pituitary gland;Headache;Central adrenal insufficiency;Progressive visual field defects;Vertigo;Type II diabetes mellitus;Abnormal visual field test;Neoplasm of the anterior pituitary;Nausea and vomiting;Slow decrease in visual acuity;Abnormal hypothalamus morphology;Hypogonadotropic hypogonadism;Abnormality of the frontal bone;Increased circulating prolactin concentration;Pituitary hypothyroidism;Obesity;Sudden loss of visual acuity;Seizure;Cerebral calcification;Global developmental delay;Central diabetes insipidus;Sleep apnea;Bitemporal hemianopia;Hydrocephalus;Optic atrophy;Proportionate short stature;Generalized hypotonia;Nasogastric tube feeding in infancy;Short stature;Low-set ears;Muscular hypotonia;Dolichocephaly;Depressed nasal bridge;Large for gestational age;Short neck;Seizure;Prominent forehead;Cubitus valgus;Lentigo maligna melanoma;Narrow forehead;Hyperhidrosis;Webbed neck;Shield chest;Thick vermilion border;Large earlobe;Downslanted palpebral fissures;Thickened helices;Pectus carinatum;Palpebral thickening;Impaired oropharyngeal swallow response;Autosomal dominant inheritance;Poor suck;Intellectual disability;Abnormality of the chin;Deep palmar crease;Low posterior hairline;Feeding difficulties in infancy;Hypertelorism;Numerous nevi;Strabismus;Pectus excavatum;Hyperpigmentation of the skin;Pectus carinatum;Cognitive impairment;Curly hair;Joint hypermobility;Dysphagia;Pulmonic stenosis;Macrocephaly;Pulmonic stenosis;Abnormal esophagus morphology;Atrial septal defect;Hyperpigmentation of the skin;Scoliosis;Atrial septal defect;Scoliosis;Failure to thrive in infancy;Ptosis;Short neck;Brachydactyly;Shield chest;Neoplasm;Male infertility;Coarctation of aorta;Kyphoscoliosis;Pulmonic stenosis;High palate;Triangular face;Short stature;Cryptorchidism;Patent ductus arteriosus;Cubitus valgus;Hypertelorism;Autosomal dominant inheritance;Downslanted palpebral fissures;Superior pectus carinatum;Sensorineural hearing impairment;Epicanthus;High, narrow palate;Pectus excavatum of inferior sternum;Abnormality of the vertebral column;Lymphedema;Ventricular septal defect;Cystic hygroma;Webbed neck;Intellectual disability;Neurofibrosarcoma;Myopia;Reduced factor XII activity;Low-set, posteriorly rotated ears;Clinodactyly;Dental malocclusion;Low posterior hairline;Synovitis;Radial deviation of finger;Hypogonadism;Atrial septal defect;Postnatal growth retardation;Abnormal bleeding;Amegakaryocytic thrombocytopenia;Hypertrophic cardiomyopathy;Heterogeneous;Reduced factor XIII activity;Micrognathia"
  go_biological_process: "MAPK cascade;activation of MAPKK activity;myeloid progenitor cell differentiation;protein phosphorylation;visual learning;animal organ morphogenesis;positive regulation of gene expression;negative regulation of fibroblast migration;positive regulation of glucose transmembrane transport;thyroid gland development;positive regulation of peptidyl-serine phosphorylation;somatic stem cell population maintenance;cellular response to drug;regulation of cell population proliferation;negative regulation of apoptotic process;CD4-positive, alpha-beta T cell differentiation;CD4-positive or CD8-positive, alpha-beta T cell lineage commitment;response to peptide hormone;negative regulation of neuron apoptotic process;regulation of T cell differentiation;thymus development;positive regulation of axon regeneration;positive regulation of axonogenesis;T cell receptor signaling pathway;protein heterooligomerization;positive regulation of stress fiber assembly;response to cAMP;long-term synaptic potentiation;head morphogenesis;face development;positive regulation of ERK1 and ERK2 cascade;trehalose metabolism in response to stress;cellular response to calcium ion;establishment of protein localization to membrane;positive regulation of substrate adhesion-dependent cell spreading;cellular response to nerve growth factor stimulus;negative regulation of synaptic vesicle exocytosis;negative regulation of endothelial cell apoptotic process"
  go_cellular_component: nucleus;mitochondrion;cytosol;plasma membrane;neuron projection;intracellular membrane-bounded organelle;cell body
  go_molecular_function: protein kinase activity;protein serine/threonine kinase activity;MAP kinase kinase kinase activity;calcium ion binding;protein binding;ATP binding;small GTPase binding;mitogen-activated protein kinase kinase binding;identical protein binding;protein heterodimerization activity
  tissue_specificity_uniprot: Brain and testis.
  expression_egenetics: amygdala;spleen;liver;stomach;germinal center;testis;brain;unclassifiable (Anatomical System);lung;thyroid;whole body;frontal lobe;head and neck;placenta;islets of Langerhans
  expression_gnf_atlas: pons;ciliary ganglion;dorsal root ganglion;atrioventricular node;superior cervical ganglion;trigeminal ganglion;testis
  interactions_intact: "YWHAE[17979178];HSP90AB1[17979178;22939624];YWHAB[15324660;12620389;17353931;24255178];ARAF[17979178;25241761;20130576];HSD17B3[24412244];CTSV[24412244];IQGAP1[17563371];TIMM50[12620389];NRAS[21478863];YWHAQ[15324660;17353931;17979178];RPS6KA2[16810323];AKT1[25241761];OIP5[12620389];SFN[15778465];PAK2[20936779];HRAS[24441586;26165597];YWHAG[15324660;17353931;17979178];YWHAH[17979178];MAPK3[25241761];ZNF189[24412244];HSPA9[17979178];HSPA8[17979178];MAP2K1[17979178;24746704;25155755;25600339;26496610;23934108;25437913];MAP3K1[16810323;16888650];MAP2K2[17979178;24746704;25600339];HSPA5[17979178];KSR1[22510884];PRKCE[16810323];LIMK1[17979178];PRKCA[16810323];BRAF[16858395;22169110;22510884;25155755;19727074;25437913];PHKB[17979178];KSR2[22510884];TERF1[20936779];YWHAZ[15324660;17353931;15161933;17979178;26496610];CCDC88A[20936779];MAPKAPK3[24412244];TRAF3[23153539];CDC37[17979178];RAF1[20141835;22169110;22510884;23680146;25155755;20130576;23934108;26466569];FBP1[24412244];ZNF510[24412244];HSPA1A[17979178]"
  interactions_biogrid: "ARAF[17979178;25241761;28514442;28628118];KIAA0141[28514442];EPRS[27684187];IGF1R[27684187];LIPF[26186194;28514442];RASSF1[28628118];STK11[28628118];FNTA[28319113];AKT1[10869359;25241761;28628118];CPNE3[27034005];PIP4K2C[27034005];MAP2K3[28628118];MAP2K1[16888650;20212043;18332145;16810323;17979178;26496610;28514442;19371126;26627737;27034005;27684187];MAP2K2[17979178;28514442;27034005];FKBPL[28514442];FBXW7[26898828];PRKCE[16810323];ARMCX3[28514442];CDC37[17979178;27034005;27684187];DNAJB11[27034005];RAF1[11325826;20212043;18332145;23153539;28514442];FKBP5[27034005];COPA[27034005];HSPA4L[27034005];NEDD4L[19953087];IQGAP1[18567582;27034005;27684187];PHB[27034005];RAP1GAP[11278445];HSP90B1[27034005];PLD2[27034005];RAP1B[27034005];HSD11B2[27034005];PRDX2[27684187];RAP1A[10454553;16507992];PDCD11[27034005];TERT[28628118];PIP5K1A[27034005];SFN[15778465;27034005;28628118;27684187];MAP2K7[27034005];MAP2K6[28628118];BRAP[18332145];HSPA9[17979178;27684187];HSPA8[17979178;27684187];HSPA5[17979178;27034005;27684187];JUP[27684187];HSPA4[27034005];DNAJC11[27034005];BRAF[17979178;28628118];PHKB[17979178];DNAJC13[27034005];DNAJC15[27034005];VANGL1[27034005];CCDC88A[20936779];CYLD[27591049];UBLCP1[27034005];FASN[27684187];GNAS[27034005];FARSA[27684187];FGFR2[28319113];YWHAE[17979178;28514442;27034005;27684187];MUS81[24104479];HSP90AB1[17979178;27684187];YWHAB[17353931;10931830;15324660;24255178;28514442;27034005;27684187];KCNC4[28514442];PTEN[28319113];HSPB1[27684187];BRCA2[28319113];RPTOR[28514442];PPP6C[27684187];YWHAQ[17353931;18332145;17979178;28514442;27034005;27684187];WDR6[27034005];HRAS[9154803;7706312;28514442;27034005;28628118];YWHAG[17353931;15324660;17979178;28514442;27034005;28628118;27684187];YWHAH[17979178;28514442;27034005];HSP90AA1[22939624;27034005;27684187];KSR1[18332145];PARP1[27684187];PGAM1[27034005];MYOF[27034005];NME2[27684187];TERF1[20936779];YWHAZ[17353931;15324660;17979178;26496610;28514442;27034005;28628118;27684187];MRAS[12138204];LATS2[28628118];PIK3CA[28319113];ALDOA[27684187];RAB1A[27684187];HDAC2[28319113];ATP5A1[27684187];EGFR[28319113];GNAI2[27034005];AURKA[28628118];PPP2CB[27034005];NRAS[7499408;27034005;9368069];DNAJB6[27034005];MAPK1[18567582;26627737;26285778];VHL[28319113];FNIP1[27353360];CCT7[27684187];PAK2[20936779];FNIP2[27353360];MAPK3[10869359;25241761];SSB[27684187];BAD[19667065];LIMK1[17979178];AP2B1[27684187];PPP1CA[27034005];DNAJA1[27034005];RAD50[27034005];RNF149[22628551];RPS6KB2[16810323;25324306];SPRY2[19690147];KRAS[28514442;27034005;28628118;27684187];VIM[27034005];RAB3GAP1[28514442];HSPA1A[17979178;27684187]"
  interactions_consensus_path_db: "RAF1[0.999];IQGAP1[0.921];KRAS[0.999];RHEB[0.996];MAP2K1[NA];BRAP[NA];KSR1[NA];HRAS[0.999];RB1[0.012];MAP2K1[0.999];MAP2K1[NA];KSR1[NA];RAF1[NA];ARAF[NA];ARAF[0.238];NRAS[0.999];MAP2K1[NA];RAF1[NA];PRKCE[0.997];MAP3K1[0.999];RPS6KA2[0.992];YWHAB[0.997];YWHAQ[0.999];YWHAZ[0.999];PRKCA[0.999];SFN[0.851];YWHAG[0.982];OIP5[0.413];MRAS[0.999];SGK1[0.987];PRKACA[0.999];RPS6KB2[NA];PRKCE[NA];YWHAH[0.953];YWHAQ[NA];RAP1GAP[NA];EGFR[NA];CRK[NA];RAPGEF1[NA];FRS2[NA];RAP1GAP[NA];AKT1[0.999];MAP2K2[0.999];RAP1A[0.992];MAPK1[0.999];RAP1GAP[0.999];MAP2K1[NA];MAP2K2[NA];YWHAE[NA];RAF1[NA];MAP2K1[NA];YWHAE[NA];KSR1[NA];CNKSR1[0.978];YWHAZ[NA];RAF1[NA];PAK2[0.998];TERF1[0.532];CCDC88A[0.882];NEDD4L[0.604];RNF149[0.032];KSR1[0.928];BRAP[0.635];RPS6KB2[0.999];HSP90AA1[0.994];YWHAE[0.983];HSPA5[0.879];HSPA8[0.983];HSPA9[0.308];CDC37[0.982];HSP90AB1[0.989];PHKB[0.981];LIMK1[0.984];BAD[0.992];LIPF[0.005];MAPK3[0.999];FBXW7[0.966];FNIP1[0.976];FNIP2[0.978];RAB3GAP1[0.997];FKBPL[0.355];ARMCX3[0.034];KCNC4[0.629];RPTOR[0.965];CYLD[0.989];TIMM50[0.730];ZHX2[0.739];SGK2[0.078];SGK3[0.021];MAP4K1[0.094]"
  haploinsufficiency: 0.95401
  hipred_score: 0.843373596668243
  hipred: Y
  ghis: 0.558767686
  prec: "."
  known_rec_info: "."
  rvis_evs: -0.6
  rvis_percentile_evs: 17.75
  lof_fdr_exac: 0.0000945651
  rvis_exac: -0.965257977
  rvis_percentile_exac: 9.547617613
  exac_pli: 0.999978196041997
  exac_prec: 0.0000218039579639691
  exac_pnull: 0.0000000000000388216441101404
  exac_nontcga_pli: 0.999932334264256
  exac_nontcga_prec: 0.0000676657351324938
  exac_nontcga_pnull: 0.000000000000611297736772402
  exac_nonpsych_pli: 0.999983482649624
  exac_nonpsych_prec: 0.0000165173502566583
  exac_nonpsych_pnull: 0.000000000000118961221524589
  gnomad_pli: 0.993
  gnomad_prec: 0.0070031
  gnomad_pnull: 0.000000045462
  exac_del_score: 0.688066950627339
  exac_dup_score: 0.390309959550704
  exac_cnv_score: 0.592048309567109
  exac_cnv_flag: N
  gdi: 63.2093
  gdi_phred: 1.62731
  gdp_all_disease_causing: Medium
  gdp_all_mendelian: Medium
  gdp_all_mendelian_ad: Medium
  gdp_mendelian_ar: Medium
  gdp_pid: Medium
  gdp_pid_ad: Medium
  gdp_pid_ar: Medium
  gdp_cancer: Medium
  gdb_cancer_rec: Medium
  gdp_cancer_dom: Medium
  loftool_score: 0.0212
  sorva_lof_maf_5_het_or_hom: 0
  sorva_lof_maf_5_hom_or_comphet: 0
  sorva_lof_maf_1_het_or_hom: 0
  sorva_lof_maf_1_hom_or_comphet: 0
  sorva_lof_or_mis_maf_5_het_or_hom: 0.0027955271565495207
  sorva_lof_or_mis_maf_5_hom_or_comphet: 0
  sorva_lof_or_mis_maf_1_het_or_hom: 0.0027955271565495207
  sorva_lof_or_mis_maf_1_hom_or_comphet: 0
  essential_gene: E
  essential_gene_crispr: N
  essential_gene_crispr2: S
  essential_gene_gene_trap: K
  gene_indispensability_score: 0.853134941017535
  gene_indispensability_pred: E
  mgi_mouse_gene: Braf
  mgi_mouse_phenotype: "liver/biliary system phenotype; respiratory system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); embryo phenotype; pigmentation phenotype; neoplasm; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); reproductive system phenotype; normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); vision/eye phenotype; digestive/alimentary phenotype; limbs/digits/tail phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); skeleton phenotype; renal/urinary system phenotype; immune system phenotype; homeostasis/metabolism phenotype; cellular phenotype; endocrine/exocrine gland phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); craniofacial phenotype; muscle phenotype; "
  zfin_zebrafish_gene: "."
  zfin_zebrafish_structure: "."
  zfin_zebrafish_phenotype_quality: "."
  zfin_zebrafish_phenotype_tag: "."
- gene_name: KRAS
  ensembl_gene: ENSG00000133703
  chr: "12"
  gene_old_names: KRAS2
  gene_other_names: KRAS1
  uniprot_acc: P01116
  uniprot_id: RASK_HUMAN
  entrez_gene_id: "3845"
  ccds_id: CCDS8702;CCDS8703
  refseq_id: NM_004985;NM_033360
  ucsc_id: uc001rgp.3
  mim_id: "190070"
  omim_id: "190070"
  gene_full_name: "KRAS proto-oncogene, GTPase"
  pathway_uniprot: "."
  pathway_biocarta_short: telPathway
  pathway_biocarta_full: "Telomeres, Telomerase, Cellular Aging, and  Immortality"
  pathway_consensus_path_db: "PI3K-Akt signaling pathway - Homo sapiens (human);Non-small cell lung cancer - Homo sapiens (human);Chronic myeloid leukemia - Homo sapiens (human);Gastric cancer - Homo sapiens (human);mTOR signaling pathway - Homo sapiens (human);Relaxin signaling pathway - Homo sapiens (human);Oxytocin signaling pathway - Homo sapiens (human);T cell receptor signaling pathway - Homo sapiens (human);B cell receptor signaling pathway - Homo sapiens (human);Fc epsilon RI signaling pathway - Homo sapiens (human);Kaposi,s sarcoma-associated herpesvirus infection - Homo sapiens (human);Renal cell carcinoma - Homo sapiens (human);VEGF signaling pathway - Homo sapiens (human);Long-term potentiation - Homo sapiens (human);Neurotrophin signaling pathway - Homo sapiens (human);Central carbon metabolism in cancer - Homo sapiens (human);Choline metabolism in cancer - Homo sapiens (human);Serotonergic synapse - Homo sapiens (human);Melanoma - Homo sapiens (human);AGE-RAGE signaling pathway in diabetic complications - Homo sapiens (human);Bladder cancer - Homo sapiens (human);Longevity regulating pathway - multiple species - Homo sapiens (human);Long-term depression - Homo sapiens (human);Acute myeloid leukemia - Homo sapiens (human);GnRH signaling pathway - Homo sapiens (human);Breast cancer - Homo sapiens (human);ErbB signaling pathway - Homo sapiens (human);Autophagy - animal - Homo sapiens (human);Gap junction - Homo sapiens (human);FoxO signaling pathway - Homo sapiens (human);Chemokine signaling pathway - Homo sapiens (human);HTLV-I infection - Homo sapiens (human);Regulation of actin cytoskeleton - Homo sapiens (human);Mitophagy - animal - Homo sapiens (human);Axon guidance - Homo sapiens (human);Thermogenesis - Homo sapiens (human);Signaling pathways regulating pluripotency of stem cells - Homo sapiens (human);Hepatocellular carcinoma - Homo sapiens (human);Glioma - Homo sapiens (human);Thyroid hormone signaling pathway - Homo sapiens (human);Prostate cancer - Homo sapiens (human);Longevity regulating pathway - Homo sapiens (human);Apelin signaling pathway - Homo sapiens (human);Estrogen signaling pathway - Homo sapiens (human);C-type lectin receptor signaling pathway - Homo sapiens (human);Aldosterone-regulated sodium reabsorption - Homo sapiens (human);Rap1 signaling pathway - Homo sapiens (human);Ras signaling pathway - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);Natural killer cell mediated cytotoxicity - Homo sapiens (human);Sphingolipid signaling pathway - Homo sapiens (human);Phospholipase D signaling pathway - Homo sapiens (human);Proteoglycans in cancer - Homo sapiens (human);Prolactin signaling pathway - Homo sapiens (human);MicroRNAs in cancer - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Viral carcinogenesis - Homo sapiens (human);Hepatitis C - Homo sapiens (human);Hepatitis B - Homo sapiens (human);Apoptosis - Homo sapiens (human);Cellular senescence - Homo sapiens (human);Cholinergic synapse - Homo sapiens (human);Thyroid cancer - Homo sapiens (human);Pancreatic cancer - Homo sapiens (human);Endometrial cancer - Homo sapiens (human);Colorectal cancer - Homo sapiens (human);Alcoholism - Homo sapiens (human);Insulin signaling pathway - Homo sapiens (human);Melanogenesis - Homo sapiens (human);EGFR Inhibitor Pathway, Pharmacodynamics;Human papillomavirus infection - Homo sapiens (human);Progesterone-mediated oocyte maturation - Homo sapiens (human);Bisphosphonate Pathway, Pharmacodynamics;Pathway_PA165959425;Sorafenib Pharmacodynamics;Vemurafenib Pathway, Pharmacodynamics;update your name in edit mode;VEGF Signaling Pathway;Fc Epsilon Receptor I Signaling in Mast Cells;EGF-Core;IL-5 Signaling Pathway;Integrated Breast Cancer Pathway;Angiogenesis overview;miR-targeted genes in epithelium - TarBase;miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase;Signaling Pathways in Glioblastoma;RalA downstream regulated genes;TNF alpha Signaling Pathway;Oncostatin M Signaling Pathway;Aryl Hydrocarbon Receptor;Extracellular vesicle-mediated signaling in recipient cells;Rac1-Pak1-p38-MMP-2 pathway;G Protein Signaling Pathways;BDNF-TrkB Signaling;MAPK Signaling Pathway;PI3K-AKT-mTOR signaling pathway and therapeutic opportunities;Chemokine signaling pathway;Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;miRNA regulation of prostate cancer signaling pathways;Endometrial cancer;PI3K-Akt Signaling Pathway;MET in type 1 papillary renal cell carcinoma;Chromosomal and microsatellite instability in colorectal cancer;MAPK Cascade;Ras Signaling;EMT transition in Colorectal Cancer;EGF-EGFR Signaling Pathway;Regulation of Actin Cytoskeleton;ErbB Signaling Pathway;DNA Damage Response (only ATM dependent);Serotonin Receptor 2 and ELK-SRF-GATA4 signaling;SHC1 events in ERBB2 signaling;Developmental Biology;Signaling by PTK6;Signaling by GPCR;FRS-mediated FGFR2 signaling;Signaling by FGFR2;Regulation of Ras family activation;MAP2K and MAPK activation;SHC-mediated cascade:FGFR2;FRS-mediated FGFR3 signaling;Downstream signaling of activated FGFR2;RAF activation;SHC-mediated cascade:FGFR3;Downstream signaling of activated FGFR3;Disease;Signaling by FGFR3;Signal Transduction;FRS-mediated FGFR4 signaling;Gene expression (Transcription);SHC-mediated cascade:FGFR4;Downstream signaling of activated FGFR4;DAP12 signaling;DAP12 interactions;Signaling by FGFR4;Signaling by FGFR;RUNX3 regulates p14-ARF;Transcriptional regulation by RUNX3;telomeres telomerase cellular aging and immortality;VEGFA-VEGFR2 Pathway;Generic Transcription Pathway;B cell receptor signaling;SOS-mediated signalling;IRS-mediated signalling;Insulin receptor signalling cascade;Signaling by Insulin receptor;Activation of RAS in B cells;Signaling by the B Cell Receptor (BCR);SHC1 events in EGFR signaling;Signaling by PDGF;CD4 T cell receptor signaling-ERK cascade;CD209 (DC-SIGN) signaling;C-type lectin receptors (CLRs);RNA Polymerase II Transcription;HGF;FCERI mediated MAPK activation;Fc epsilon receptor (FCERI) signaling;IGF signaling;Innate Immune System;Immune System;Regulation of RAS by GAPs;FGF;Signaling by FGFR2 in disease;Adaptive Immune System;insulin Mam;Downstream signaling events of B Cell Receptor (BCR);Signaling by EGFR;p38MAPK events;Signalling to RAS;Signalling to ERKs;Signaling by NTRK1 (TRKA);Integrin;Activated NTRK2 signals through RAS;Signaling by NTRK2 (TRKB);Signaling by NTRKs;EGFR1;SHP2 signaling;Tie2 Signaling;Ras signaling in the CD4+ TCR pathway;ErbB1 downstream signaling;Cell surface interactions at the vascular wall;Hemostasis;Negative regulation of MAPK pathway;RAF/MAP kinase cascade;MAPK1/MAPK3 signaling;MAPK family signaling cascades;JAK STAT pathway and regulation;PDGF;GRB2 events in ERBB2 signaling;EGFR Transactivation by Gastrin;NCAM signaling for neurite out-growth;NGF;PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases;Signaling by Non-Receptor Tyrosine Kinases;MAP kinase cascade;C-MYB transcription factor network;IL2-mediated signaling events;Downstream signal transduction;Class I PI3K signaling events;Signaling by EGFRvIII in Cancer;Signaling by EGFR in Cancer;Signaling by VEGF;GRB2 events in EGFR signaling;Signaling by FGFR3 point mutants in cancer;Signaling by FGFR4 in disease;Axon guidance;Signaling by FGFR3 fusions in cancer;Signaling by FGFR3 in disease;Signaling by SCF-KIT;Signaling by FGFR in disease;Signaling by ERBB2;SHC1 events in ERBB4 signaling;Signaling by ERBB4;SHC-related events triggered by IGF1R;IRS-related events triggered by IGF1R;IGF1R signaling cascade;MET activates RAS signaling;Signaling by FGFR1 in disease;Signaling by MET;Constitutive Signaling by EGFRvIII;Signaling by Receptor Tyrosine Kinases;Signaling by RAS mutants;Signaling by high-kinase activity BRAF mutants;Gastrin-CREB signalling pathway via PKC and MAPK;G alpha (q) signalling events;GPCR downstream signalling;Signaling by moderate kinase activity BRAF mutants;Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants;Signaling by Ligand-Responsive EGFR Variants in Cancer;EGF;Paradoxical activation of RAF signaling by kinase inactive BRAF;ErbB2/ErbB3 signaling events;GMCSF-mediated signaling events;mTOR signaling pathway;Neurotrophic factor-mediated Trk receptor signaling;Signaling by BRAF and RAF fusions;Oncogenic MAPK signaling;Diseases of signal transduction;Downstream signaling in na&#xef;ve CD8+ T cells;Internalization of ErbB1;TCR signaling in na&#xef;ve CD8+ T cells;CXCR3-mediated signaling events;EPHB forward signaling;Plasma membrane estrogen receptor signaling;Trk receptor signaling mediated by PI3K and PLC-gamma;PDGFR-beta signaling pathway;Downstream signaling of activated FGFR1;Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R);Trk receptor signaling mediated by the MAPK pathway;TCR signaling in na&#xef;ve CD4+ T cells;FRS-mediated FGFR1 signaling;SHC-mediated cascade:FGFR1;insulin;VEGFR2 mediated cell proliferation;Signaling by FGFR1;CD4 T cell receptor signaling"
  pathway_kegg_id: hsa04010;hsa04012;hsa04360;hsa04370;hsa04530;hsa04540;hsa04650;hsa04660;hsa04662;hsa04664;hsa04720;hsa04730;hsa04810;hsa04910;hsa04912;hsa04916;hsa05210;hsa05211;hsa05212;hsa05213;hsa05214;hsa05215;hsa05216;hsa05218;hsa05219;hsa05220;hsa05221;hsa05223
  pathway_kegg_full: MAPK signaling pathway;ErbB signaling pathway;Axon guidance;VEGF signaling pathway;Tight junction;Gap junction;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;B cell receptor signaling pathway;Fc epsilon RI signaling pathway;Long-term potentiation;Long-term depression;Regulation of actin cytoskeleton;Insulin signaling pathway;GnRH signaling pathway;Melanogenesis;Colorectal cancer;Renal cell carcinoma;Pancreatic cancer;Endometrial cancer;Glioma;Prostate cancer;Thyroid cancer;Melanoma;Bladder cancer;Chronic myeloid leukemia;Acute myeloid leukemia;Non-small cell lung cancer
  function_description: "FUNCTION: Ras proteins bind GDP/GTP and possess intrinsic GTPase activity. Plays an important role in the regulation of cell proliferation (PubMed:23698361, PubMed:22711838). Plays a role in promoting oncogenic events by inducing transcriptional silencing of tumor suppressor genes (TSGs) in colorectal cancer (CRC) cells in a ZNF304-dependent manner (PubMed:24623306). {ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:23698361, ECO:0000269|PubMed:24623306, ECO:0000305}."
  disease_description: "DISEASE: Leukemia, acute myelogenous (AML) [MIM:601626]: A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. {ECO:0000269|PubMed:8955068}. Note=The disease is caused by mutations affecting the gene represented in this entry.;DISEASE: Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]: An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages. {ECO:0000269|PubMed:17332249}. Note=The disease is caused by mutations affecting the gene represented in this entry.;DISEASE: Noonan syndrome 3 (NS3) [MIM:609942]: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. {ECO:0000269|PubMed:16474405, ECO:0000269|PubMed:16773572, ECO:0000269|PubMed:17056636, ECO:0000269|PubMed:17468812, ECO:0000269|PubMed:19396835, ECO:0000269|PubMed:20949621}. Note=The disease is caused by mutations affecting the gene represented in this entry.;DISEASE: Gastric cancer (GASC) [MIM:613659]: A malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease. {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:7773929}. Note=The disease is caused by mutations affecting the gene represented in this entry.;DISEASE: Note=Defects in KRAS are a cause of pylocytic astrocytoma (PA). Pylocytic astrocytomas are neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. {ECO:0000269|PubMed:16247081}.;DISEASE: Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278]: A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and mental retardation. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. CFC2 patients often do not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma observed in CFC1. {ECO:0000269|PubMed:16474404, ECO:0000269|PubMed:16474405, ECO:0000269|PubMed:17056636, ECO:0000269|PubMed:20949621, ECO:0000269|PubMed:21797849}. Note=The disease is caused by mutations affecting the gene represented in this entry.;DISEASE: Note=KRAS mutations are involved in cancer development. {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:1553789, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:24623306, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:3627975, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:6695174, ECO:0000269|PubMed:7773929}."
  mim_phenotype_id: 601626;607785;609942;613659;615278
  mim_disease: "[MIM:601626]Leukemia, acute myelogenous;[MIM:607785]Leukemia, juvenile myelomonocytic;[MIM:609942]Noonan syndrome 3;[MIM:613659]Gastric cancer;[MIM:615278]Cardiofaciocutaneous syndrome 2"
  orphanet_disorder_id: 648;2612;146;1340;2396;251615;268114;3339;144;1333;357191;357194;86834
  orphanet_disorder: Noonan syndrome;Linear nevus sebaceus syndrome;Differentiated thyroid carcinoma;Cardiofaciocutaneous syndrome;Encephalocraniocutaneous lipomatosis;Pilomyxoid astrocytoma;RAS-associated autoimmune leukoproliferative disease;Toriello-Lacassie-Droste syndrome;Lynch syndrome;Familial pancreatic carcinoma;Selection of therapeutic option in non-small cell lung carcinoma;Selection of therapeutic option in colorectal cancer;Juvenile myelomonocytic leukemia
  orphanet_association_type: Disease-causing germline mutation(s) in;Disease-causing somatic mutation(s) in;Disease-causing somatic mutation(s) in;Disease-causing germline mutation(s) (gain of function) in;Candidate gene tested in;Disease-causing somatic mutation(s) in;Disease-causing somatic mutation(s) in;Disease-causing somatic mutation(s) in;Biomarker tested in;Major susceptibility factor in;Biomarker tested in;Biomarker tested in;Disease-causing somatic mutation(s) in
  trait_association_gwas: "Disease progression in age-related macular degeneration[29346644];Dysmenorrheic pain[27454463]"
  hpo_id: "HP:0001428;HP:0000006;HP:0001425;HP:0003002;HP:0000204;HP:0002582;HP:0012126;HP:0000006;HP:0000175;HP:0000995;HP:0002007;HP:0000269;HP:0001347;HP:0002353;HP:0001510;HP:0100555;HP:0002514;HP:0004422;HP:0001596;HP:0001305;HP:0000612;HP:0000568;HP:0001048;HP:0003422;HP:0009720;HP:0000504;HP:0002132;HP:0002816;HP:0007370;HP:0007400;HP:0000506;HP:0007360;HP:0001250;HP:0000324;HP:0001315;HP:0001249;HP:0001357;HP:0001252;HP:0000737;HP:0004374;HP:0100576;HP:0002076;HP:0012174;HP:0010526;HP:0002027;HP:0001824;HP:0001371;HP:0200008;HP:0010622;HP:0100613;HP:0001123;HP:0100743;HP:0001276;HP:0002893;HP:0001252;HP:0001402;HP:0002024;HP:0002671;HP:0003003;HP:0100835;HP:0006725;HP:0001250;HP:0002019;HP:0010786;HP:0100615;HP:0002376;HP:0100031;HP:0003401;HP:0000739;HP:0010524;HP:0001522;HP:0007256;HP:0002017;HP:0002354;HP:0002516;HP:0001260;HP:0002239;HP:0003006;HP:0000738;HP:0007018;HP:0000716;HP:0012378;HP:0100660;HP:0001288;HP:0100571;HP:0001269;HP:0004493;HP:0002797;HP:0001012;HP:0002652;HP:0005306;HP:0001250;HP:0001274;HP:0001331;HP:0002301;HP:0003552;HP:0001482;HP:0007957;HP:0001650;HP:0040188;HP:0000612;HP:0002120;HP:0011611;HP:0000499;HP:0001704;HP:0002357;HP:0002445;HP:0002514;HP:0100761;HP:0002119;HP:0002763;HP:0002092;HP:0001596;HP:0001680;HP:0001249;HP:0009125;HP:0002381;HP:0012062;HP:0010622;HP:0000488;HP:0000943;HP:0001263;HP:0012157;HP:0000614;HP:0001257;HP:0010529;HP:0002300;HP:0000991;HP:0001052;HP:0000256;HP:0002063;HP:0003470;HP:0000218;HP:0000347;HP:0000465;HP:0001743;HP:0006610;HP:0002650;HP:0000768;HP:0000486;HP:0004415;HP:0000325;HP:0010318;HP:0001260;HP:0002162;HP:0002208;HP:0004209;HP:0007477;HP:0000348;HP:0001252;HP:0000995;HP:0011381;HP:0000474;HP:0002974;HP:0011800;HP:0004322;HP:0100625;HP:0000407;HP:0000179;HP:0001004;HP:0008872;HP:0001641;HP:0000044;HP:0000028;HP:0011869;HP:0002750;HP:0000767;HP:0005692;HP:0001156;HP:0001928;HP:0000391;HP:0000476;HP:0001324;HP:0011675;HP:0000316;HP:0000368;HP:0000639;HP:0000508;HP:0001892;HP:0002240;HP:0000520;HP:0000494;HP:0011362;HP:0000238;HP:0000545;HP:0006191;HP:0001004;HP:0000637;HP:0000974;HP:0004422;HP:0000504;HP:0200102;HP:0000293;HP:0000316;HP:0000028;HP:0008070;HP:0000343;HP:0000391;HP:0002857;HP:0000348;HP:0000958;HP:0000276;HP:0000256;HP:0001654;HP:0000982;HP:0001639;HP:0008064;HP:0001252;HP:0002213;HP:0000508;HP:0005280;HP:0000470;HP:0007565;HP:0000463;HP:0002650;HP:0004322;HP:0008872;HP:0001582;HP:0002217;HP:0001048;HP:0000400;HP:0002120;HP:0010669;HP:0002299;HP:0001531;HP:0001263;HP:0000767;HP:0001622;HP:0000639;HP:0000486;HP:0002997;HP:0001249;HP:0001631;HP:0007392;HP:0000176;HP:0000494;HP:0000286;HP:0002967;HP:0012719;HP:0000465;HP:0003196;HP:0000126;HP:0001642;HP:0100840;HP:0000218;HP:0001260;HP:0009891;HP:0001003;HP:0007440;HP:0002007;HP:0002353;HP:0000368;HP:0002162;HP:0008391;HP:0000648;HP:0000280;HP:0001639;HP:0002836;HP:0000006;HP:0012803;HP:0001510;HP:0001643;HP:0000953;HP:0001004;HP:0000520;HP:0001680;HP:0007759;HP:0001250;HP:0002558;HP:0010816;HP:0000625;HP:0001631;HP:0000286;HP:0000431;HP:0000486;HP:0000483;HP:0000482;HP:0100559;HP:0000470;HP:0000256;HP:0000242;HP:0000639;HP:0001057;HP:0005280;HP:0001428;HP:0100702;HP:0001140;HP:0002326;HP:0000324;HP:0000752;HP:0001263;HP:0001428;HP:0006519;HP:0000006;HP:0000007;HP:0002910;HP:0003002;HP:0001824;HP:0002861;HP:0004396;HP:0025318;HP:0003003;HP:0002017;HP:0003418;HP:0001433;HP:0005249;HP:0100592;HP:0000819;HP:0001738;HP:0006725;HP:0002039;HP:0002254;HP:0012334;HP:0002896;HP:0004389;HP:0002027;HP:0002716;HP:0000952;HP:0012432;HP:0000006;HP:0001428;HP:0006740;HP:0000358;HP:0000337;HP:0003477;HP:0000006;HP:0000545;HP:0002212;HP:0000508;HP:0001263;HP:0000463;HP:0000218;HP:0001634;HP:0008070;HP:0002223;HP:0000280;HP:0000369;HP:0002213;HP:0004808;HP:0000006;HP:0001428;HP:0000006;HP:0002408;HP:0001909;HP:0000006;HP:0002205;HP:0012311;HP:0002665;HP:0001875;HP:0010702;HP:0001876;HP:0100827;HP:0002240;HP:0001744;HP:0001878;HP:0005523;HP:0002731;HP:0002729;HP:0001973;HP:0000006;HP:0000476;HP:0001643;HP:0000767;HP:0000369;HP:0000218;HP:0000465;HP:0005281;HP:0000494;HP:0001263;HP:0001642;HP:0030799;HP:0000316;HP:0004442;HP:0000358;HP:0002007;HP:0001639;HP:0001629;HP:0011995;HP:0001561;HP:0000286;HP:0003196;HP:0012209;HP:0000463;HP:0001631;HP:0001634;HP:0000256;HP:0004322;HP:0002750;HP:0000028;HP:0001428;HP:0410067;HP:0000006;HP:0002894;HP:0000602;HP:0010817;HP:0002671;HP:0003745;HP:0002751;HP:0004912;HP:0007957;HP:0002757;HP:0001250;HP:0004322;HP:0008064;HP:0001249;HP:0007206;HP:0000589;HP:0001010;HP:0006482;HP:0000826;HP:0011073;HP:0001680;HP:0001528;HP:0001596;HP:0001442;HP:0001028;HP:0001780;HP:0003109;HP:0001548;HP:0000267;HP:0000085;HP:0010815;HP:0000938;HP:0001167;HP:0000365;HP:0001252;HP:0001508;HP:0002251;HP:0000463;HP:0000069;HP:0011968;HP:0000625;HP:0001331;HP:0012745;HP:0001999;HP:0000506;HP:0001156;HP:0001561;HP:0008749;HP:0001140;HP:0000047;HP:0030680;HP:0004279;HP:0000486;HP:0001274;HP:0000520;HP:0008065;HP:0000581;HP:0000014;HP:0007440;HP:0000256;HP:0001510;HP:0000286;HP:0003196;HP:0000039"
  hpo_name: "Somatic mutation;Autosomal dominant inheritance;Heterogeneous;Breast carcinoma;Cleft upper lip;Chronic atrophic gastritis;Stomach cancer;Autosomal dominant inheritance;Cleft palate;Melanocytic nevus;Frontal bossing;Prominent occiput;Hyperreflexia;EEG abnormality;Growth delay;Asymmetric growth;Cerebral calcification;Biparietal narrowing;Alopecia;Dandy-Walker malformation;Iris coloboma;Microphthalmia;Cavernous hemangioma;Vertebral segmentation defect;Adenoma sebaceum;Abnormality of vision;Porencephalic cyst;Genu recurvatum;Aplasia/Hypoplasia of the corpus callosum;Irregular hyperpigmentation;Telecanthus;Aplasia/Hypoplasia of the cerebellum;Seizure;Facial asymmetry;Reduced tendon reflexes;Intellectual disability;Plagiocephaly;Muscular hypotonia;Irritability;Hemiplegia/hemiparesis;Amaurosis fugax;Migraine;Glioblastoma multiforme;Dysgraphia;Abdominal pain;Weight loss;Flexion contracture;Intestinal polyposis;Neoplasm of the skeletal system;Death in early adulthood;Visual field defect;Neoplasm of the rectum;Hypertonia;Pituitary adenoma;Muscular hypotonia;Hepatocellular carcinoma;Malabsorption;Basal cell carcinoma;Colon cancer;Benign neoplasm of the central nervous system;Pancreatic adenocarcinoma;Seizure;Constipation;Urinary tract neoplasm;Ovarian neoplasm;Developmental regression;Neoplasm of the thyroid gland;Paresthesia;Anxiety;Agnosia;Death in infancy;Abnormal pyramidal sign;Nausea and vomiting;Memory impairment;Increased intracranial pressure;Dysarthria;Gastrointestinal hemorrhage;Neuroblastoma;Hallucinations;Attention deficit hyperactivity disorder;Depressivity;Fatigue;Dyskinesia;Gait disturbance;Cardiac diverticulum;Hemiparesis;Craniofacial hyperostosis;Osteolysis;Multiple lipomas;Skeletal dysplasia;Capillary hemangioma;Seizure;Agenesis of corpus callosum;Absent septum pellucidum;Hemiplegia;Muscle stiffness;Subcutaneous nodule;Corneal opacity;Aortic valve stenosis;Osteochondrosis;Iris coloboma;Cerebral cortical atrophy;Interrupted aortic arch;Abnormal eyelash morphology;Tricuspid valve prolapse;Dysphasia;Tetraplegia;Cerebral calcification;Visceral angiomatosis;Ventriculomegaly;Abnormal cartilage morphology;Pulmonary arterial hypertension;Alopecia;Coarctation of aorta;Intellectual disability;Lipodystrophy;Aphasia;Bone cyst;Neoplasm of the skeletal system;Retinopathy;Dysostosis multiplex;Global developmental delay;Subcortical cerebral atrophy;Abnormal nasolacrimal system morphology;Spasticity;Echolalia;Mutism;Xanthomatosis;Nevus flammeus;Macrocephaly;Rigidity;Paralysis;High palate;Micrognathia;Webbed neck;Abnormality of the spleen;Wide intermamillary distance;Scoliosis;Pectus carinatum;Strabismus;Pulmonary artery stenosis;Triangular face;Aplasia/Hypoplasia of the abdominal wall musculature;Dysarthria;Low posterior hairline;Coarse hair;Clinodactyly of the 5th finger;Abnormal dermatoglyphics;High forehead;Muscular hypotonia;Melanocytic nevus;Aplasia of the semicircular canal;Thickened nuchal skin fold;Radioulnar synostosis;Midface retrusion;Short stature;Enlarged thorax;Sensorineural hearing impairment;Thick lower lip vermilion;Lymphedema;Feeding difficulties in infancy;Abnormal pulmonary valve morphology;Hypogonadotropic hypogonadism;Cryptorchidism;Abnormal platelet function;Delayed skeletal maturation;Pectus excavatum;Joint hyperflexibility;Brachydactyly;Abnormality of coagulation;Thickened helices;Cystic hygroma;Muscle weakness;Arrhythmia;Hypertelorism;Low-set, posteriorly rotated ears;Nystagmus;Ptosis;Abnormal bleeding;Hepatomegaly;Proptosis;Downslanted palpebral fissures;Abnormal hair quantity;Hydrocephalus;Myopia;Deep palmar crease;Lymphedema;Long palpebral fissure;Hyperextensible skin;Biparietal narrowing;Abnormality of vision;Sparse or absent eyelashes;Full cheeks;Hypertelorism;Cryptorchidism;Sparse hair;Long philtrum;Thickened helices;Genu valgum;High forehead;Dry skin;Long face;Macrocephaly;Abnormal heart valve morphology;Palmoplantar keratoderma;Hypertrophic cardiomyopathy;Ichthyosis;Muscular hypotonia;Fine hair;Ptosis;Depressed nasal bridge;Short neck;Multiple cafe-au-lait spots;Anteverted nares;Scoliosis;Short stature;Feeding difficulties in infancy;Redundant skin;Slow-growing hair;Cavernous hemangioma;Macrotia;Cerebral cortical atrophy;Hypoplasia of the zygomatic bone;Brittle hair;Failure to thrive in infancy;Global developmental delay;Pectus excavatum;Premature birth;Nystagmus;Strabismus;Abnormality of the ulna;Intellectual disability;Atrial septal defect;Excessive wrinkled skin;Submucous cleft hard palate;Downslanted palpebral fissures;Epicanthus;Cubitus valgus;Functional abnormality of the gastrointestinal tract;Webbed neck;Short nose;Hydronephrosis;Pulmonic stenosis;Aplasia/Hypoplasia of the eyebrow;High palate;Dysarthria;Underdeveloped supraorbital ridges;Multiple lentigines;Generalized hyperpigmentation;Frontal bossing;EEG abnormality;Low-set, posteriorly rotated ears;Low posterior hairline;Dystrophic fingernails;Optic atrophy;Coarse facial features;Hypertrophic cardiomyopathy;Bladder exstrophy;Autosomal dominant inheritance;Anisometropia;Growth delay;Patent ductus arteriosus;Hyperpigmentation of the skin;Lymphedema;Proptosis;Coarctation of aorta;Opacification of the corneal stroma;Seizure;Supernumerary nipple;Epidermal nevus;Eyelid coloboma;Atrial septal defect;Epicanthus;Wide nasal bridge;Strabismus;Astigmatism;Microcornea;Lower limb asymmetry;Short neck;Macrocephaly;Parietal bossing;Nystagmus;Aplasia cutis congenita;Depressed nasal bridge;Somatic mutation;Arachnoid cyst;Limbal dermoid;Transient ischemic attack;Facial asymmetry;Hyperactivity;Global developmental delay;Somatic mutation;Alveolar cell carcinoma;Autosomal dominant inheritance;Autosomal recessive inheritance;Elevated hepatic transaminase;Breast carcinoma;Weight loss;Melanoma;Poor appetite;Ovarian carcinoma;Colon cancer;Nausea and vomiting;Back pain;Hepatosplenomegaly;Functional intestinal obstruction;Peritoneal abscess;Diabetes mellitus;Exocrine pancreatic insufficiency;Pancreatic adenocarcinoma;Anorexia;Intermittent diarrhea;Extrahepatic cholestasis;Neoplasm of the liver;Intestinal pseudo-obstruction;Abdominal pain;Lymphadenopathy;Jaundice;Chronic fatigue;Autosomal dominant inheritance;Somatic mutation;Transitional cell carcinoma of the bladder;Posteriorly rotated ears;Broad forehead;Peripheral axonal neuropathy;Autosomal dominant inheritance;Myopia;Curly hair;Ptosis;Global developmental delay;Anteverted nares;High palate;Mitral valve prolapse;Sparse hair;Absent eyebrow;Coarse facial features;Low-set ears;Fine hair;Acute myeloid leukemia;Autosomal dominant inheritance;Somatic mutation;Autosomal dominant inheritance;Cerebral arteriovenous malformation;Leukemia;Autosomal dominant inheritance;Recurrent respiratory infections;Monocytosis;Lymphoma;Neutropenia;Increased circulating antibody level;Pancytopenia;Lymphocytosis;Hepatomegaly;Splenomegaly;Hemolytic anemia;Lymphoproliferative disorder;Decreased lymphocyte apoptosis;Follicular hyperplasia;Autoimmune thrombocytopenia;Autosomal dominant inheritance;Cystic hygroma;Patent ductus arteriosus;Pectus excavatum;Low-set ears;High palate;Webbed neck;Hypoplastic nasal bridge;Downslanted palpebral fissures;Global developmental delay;Pulmonic stenosis;Scaphocephaly;Hypertelorism;Sagittal craniosynostosis;Posteriorly rotated ears;Frontal bossing;Hypertrophic cardiomyopathy;Ventricular septal defect;Atrial septal dilatation;Polyhydramnios;Epicanthus;Short nose;Juvenile myelomonocytic leukemia;Anteverted nares;Atrial septal defect;Mitral valve prolapse;Macrocephaly;Short stature;Delayed skeletal maturation;Cryptorchidism;Somatic mutation;Increased level of L-fucose in urine;Autosomal dominant inheritance;Neoplasm of the pancreas;Ophthalmoplegia;Linear nevus sebaceous;Basal cell carcinoma;Sporadic;Kyphoscoliosis;Hypophosphatemic rickets;Corneal opacity;Recurrent fractures;Seizure;Short stature;Ichthyosis;Intellectual disability;Hemimegalencephaly;Coloboma;Hypopigmentation of the skin;Abnormality of dental morphology;Precocious puberty;Abnormality of dental color;Coarctation of aorta;Hemihypertrophy;Alopecia;Somatic mosaicism;Hemangioma;Abnormality of toe;Hyperphosphaturia;Overgrowth;Cranial asymmetry;Horseshoe kidney;Nevus sebaceous;Osteopenia;Abnormality of finger;Hearing impairment;Muscular hypotonia;Failure to thrive;Aganglionic megacolon;Anteverted nares;Abnormality of the ureter;Feeding difficulties;Eyelid coloboma;Absent septum pellucidum;Short palpebral fissure;Abnormal facial shape;Telecanthus;Brachydactyly;Polyhydramnios;Laryngeal hypoplasia;Limbal dermoid;Hypospadias;Abnormality of cardiovascular system morphology;Short palm;Strabismus;Agenesis of corpus callosum;Proptosis;Aplasia/Hypoplasia of the skin;Blepharophimosis;Abnormality of the bladder;Generalized hyperpigmentation;Macrocephaly;Growth delay;Epicanthus;Short nose;Epispadias"
  go_biological_process: "MAPK cascade;liver development;positive regulation of protein phosphorylation;stimulatory C-type lectin receptor signaling pathway;Ras protein signal transduction;female pregnancy;positive regulation of cell population proliferation;visual learning;positive regulation of gene expression;cytokine-mediated signaling pathway;forebrain astrocyte development;actin cytoskeleton organization;regulation of protein stability;regulation of synaptic transmission, GABAergic;positive regulation of Rac protein signal transduction;response to isolation stress;endocrine signaling;positive regulation of MAP kinase activity;negative regulation of neuron apoptotic process;negative regulation of cell differentiation;regulation of long-term neuronal synaptic plasticity;homeostasis of number of cells within a tissue;positive regulation of nitric-oxide synthase activity;positive regulation of NF-kappaB transcription factor activity;striated muscle cell differentiation;response to glucocorticoid;response to mineralocorticoid;epithelial tube branching involved in lung morphogenesis;positive regulation of cellular senescence"
  go_cellular_component: cytoplasm;mitochondrion;cytosol;plasma membrane;focal adhesion;membrane;extrinsic component of cytoplasmic side of plasma membrane;membrane raft
  go_molecular_function: GTPase activity;protein binding;GTP binding;GMP binding;GDP binding;LRR domain binding;protein-containing complex binding
  tissue_specificity_uniprot: "."
  expression_egenetics: cochlea;intestine;pharynx;tongue;cornea;spinal ganglion;skin;stomach;testis;unclassifiable (Anatomical System);kidney;uterus;whole body;retina;pancreas;bile duct;head and neck;mammary gland;spinal cord;skeletal muscle;islets of Langerhans;visual apparatus;cervix;spleen;liver;peripheral nerve;cartilage;endometrium;bone;germinal center;parathyroid;brain;blood;heart;bone marrow;lung;salivary gland;ovary;thyroid;lymph node;bladder;frontal lobe;colon;placenta;prostate;breast;optic nerve
  expression_gnf_atlas: ciliary ganglion;amygdala;prefrontal cortex;trigeminal ganglion;superior cervical ganglion;cingulate cortex;cerebellum;pons;occipital lobe;subthalamic nucleus;dorsal root ganglion;whole brain;atrioventricular node;globus pallidus
  interactions_intact: "DIRAS3[25640309];MOCS2[25640309];ABCD3[26496610];NUP107[26496610];DDX47[21988832];C1orf131[26496610];ZMYND8[26496610];IL24[25640309];ARAF[25416956;25852190];GOLIM4[26496610];FRAT1[26496610];RASSF2[12732644];FRAT2[24412244];LSM11[26496610];TXNL4A[26496610];BCAS3[25640309];KSR1[27086506];IGFBP3[24412244];TTC31[26496610];MED4[26496610];DDX50[21988832];ZDHHC17[24705354];SERPINB5[25640309];EEF1A1[21900206];UQCRC1[25640309];MT-CO3[25640309];RAF1[20802526;25852190;20080631];NCBP2-AS2[26496610];HEMGN[24412244];TEDC1[26496610];STX17[24412244];LPAR1[21988832];COPS7B[26496610];PIK3R2[21988832];ADH6[21988832];IGSF21[21900206];PPP2CB[24412244];LIMA1[26496610];DEAF1[21900206];CCL5[25640309];PDE6D[23698361];CCT7[21900206];FAM83D[26496610];RALGDS[21988832];ZNF189[24412244];EGLN1[21988832];TNFSF13[25640309];OSGIN1[25640309];PDE4DIP[21900206];FANCC[24412244];SORBS3[26496610];PML[26496610];GATAD2A[26496610];QDPR[25640309];CDK8[24412244];RPS29[26496610];THRSP[25640309];KRAS[26051715];HNRNPC[16189514];MT-CYB[25640309];RGL2[21988832]"
  interactions_biogrid: "RPL4[27684187];RPL5[27684187];RPL30[27684187];NUP107[26496610];RPL3[27684187];RPL32[27684187];RPL31[27684187];FRMPD1[19490893];ARAF[25416956;25852190;28628118];WDR83[19490893];HNRNPR[27684187];ENO1[27684187];ALKBH7[19490893];EPRS[19490893;27684187];RPL8[27684187];RPL6[27684187];RRP9[19490893];RPL7[27684187];ALKBH3[19490893];PREX1[28162770];LSM11[26496610];PSMD2[27684187];PIP4K2A[19490893];FLJ90680[19490893];RPL21[27684187];DNTTIP1[19490893];LOC285556[19490893];CACNA2D2[19490893];MED4[26496610];SYTL2[19490893];NUP93[19490893];MYL6[27684187];RFX4[19490893];FEZ2[19490893];UQCRC1[25640309];C14orf80[26496610];NUP98[24104479];RPL26[27684187];FREM1[19490893];HOXB5[19490893];NCBP2-AS2[26496610];URI1[19490893];NUP205[19490893];HOXD1[19490893];NPRL2[27684187];FLII[27684187];ABCB5[19490893];GATA6[19490893];CDCA8[19490893];MRPS36P4[19490893];COPS7B[26496610];LYPD4[27229929];ANAPC10[24104479];ADH6[21988832];C6[19490893];FLRT2[19490893];RRS1[19490893];COX3[25640309];SFN[27684187];LTA4H[24104479];PROM1[19490893];RHBDL2[19490893];NHEJ1[24104479];GSDMC[19490893];ICMT[28162770];JUP[27684187];ZNF260[19490893];PLK1[19490893];BRAF[28514442;27034005;28628118;27684187];MRPL30[19490893];FAM160A2[19490893];HNRNPK[27684187];QARS[19490893];HNRNPF[27684187];HNRNPC[16189514;19490893;27684187];MOCS2[25640309];ARF1[27684187];LRRC32[19490893];PHF7[19490893];GLI3[19490893];ADAMTSL5[19490893];LCE5A[19490893];NKRF[27684187];TRIM3[19490893];TK2[19490893];TEAD2[19490893];JAK1[19490893];NDC1[19490893];ZC3H10[19490893];WDR36[19490893];WDR37[19490893];ANXA5[19490893];LOC283575[19490893];MRPL49[19490893];RRAS2[27684187];PAWR[27684187];TIMM22[19490893];DYNLL2[19490893];PTGR2[26496610];SERPINB5[19490893;25640309];PSMA5[19490893];TMEM177[19490893];PSMA3[25416956];RILPL2[24104479];PSMA1[27684187];MDFI[25416956];SF3B2[27684187];RPL10[27684187];RPL12[27684187];ATP5A1[27684187];ADAM22[19490893];ADCY8[19490893];HSPA14[19490893];LRRC10[19490893];SPTY2D1[19490893];EGFR[26627737];FAM129B[26721396];PSMB6[19490893];PSMB4[27684187];UNK[25737280];EXOSC10[19490893];PSMB5[19490893];C11orf72[19490893];PSMB2[27684187];CHN1[19490893];PPP1R8[19490893];PSMB1[27684187];RPL15[27684187];RPL18[27684187];RPL17[27684187];EGLN1[21988832];ZNF584[19490893];GPR56[19490893];USP9Y[19490893];C14orf183[19490893];SRP68[27684187];GATAD2A[19490893;26496610];FOXR1[19490893];FAM115C[19490893];PHF5A[27684187];NMNAT1[19490893];PSMC3[27684187];NCAPD2[19490893];MTCH2[27684187];NAB1[24104479];GOLIM4[26496610];CASC5[19490893];UBE2D1[19490893];ZC3HAV1L[19490893];IL1RAP[19490893];IPO7[27684187];CXCL16[19490893];IPO5[27684187];CDH5[19490893];RIMS1[19490893];CDH1[27684187];GRAP2[19490893];NEK1[19490893];OIP5[19490893];STK32A[24104479];HMGN2[19490893];PSKH2[19490893];TXNL4A[26496610];KPNA2[27684187];KCMF1[19490893];CDKL3[19490893];MYLIP[19490893];MAP2K1[24104479;27684187];RPS9[27684187];SNRPN[19490893];USP6[19490893];FBXW7[19490893];KCNH7[19490893];THOC1[24104479;19490893];SYPL2[19490893];RNF40[19490893];MOB3A[19490893];THOC6[27684187];MTNR1A[24104479];SLC9A8[24104479];NCL[19490893;27684187];ANAPC4[19490893];ERH[19490893;27684187];SNRPF[24104479;27684187];TTPAL[19490893];SQSTM1[27684187];ANAPC1[19490893];KMT2E[24104479];KMT2A[19490893];SHC1[26627737];IREB2[19490893];PHB[16041367];KLC1[27684187];RLF[19490893];IGSF21[21900206];BAG2[27684187];TTC21B[19490893];G3BP2[27684187];BRIX1[19490893];NAE1[19490893];MPDZ[19490893];C9orf84[19490893];NADK[19490893];OSBPL9[19490893];RBPMS[25416956];SHFM1[19490893];FANCA[19490893];FBXO36[19490893];LSM5[19490893];EEF2[27684187];COPS4[19490893];MFHAS1[24104479];IBTK[19490893];BFSP1[19490893];RGCC[19490893];COPS5[19490893];GNL3L[19490893];GON4L[19490893];ARPC2[19490893];ARPC3[19490893];CNOT1[19490893];COPS2[19490893];BCL2[19433448];NF1[19490893];PIN1[19490893];TPP2[19490893];IARS[19490893];TUBGCP4[19490893];CYTB[25640309];COPS8[19490893];NOP10[19490893];EIF4G2[27684187];BCL2L1[27684187];ISY1[19490893];DIDO1[19490893];HSP90AB1[27684187];C1orf131[26496610];RASGRF2[11238945];COX4I2[19490893];SNAP23[19490893];TSSK1B[19490893];EFCAB12[19490893];NXT2[24104479];PIK3CG[10542052];CDC73[19490893];PPP6C[27684187];CAPZB[27684187];UBTF[19490893];LINC01547[19490893];CCIN[19490893];ZNF764[24104479];BCAS2[24104479];ACTR2[19490893];BCAS3[25640309];HSP90AA1[27684187];SH2D3A[19490893];ARNT[27684187];TFIP11[27684187];DUSP22[27432908];ARL4A[19490893];PIK3CA[10783161;26627737];TRAF6[24026882];SOS1[26627737];SPACA7[19490893];GAPDH[27684187];CATSPER1[19490893];DGCR14[19490893];UHRF2[19490893];SHCBP1L[19490893];SRSF1[27684187];RCHY1[19490893];COCH[24104479];RNFT1[24104479];FBXL20[19490893];SLITRK2[19490893];FIP1L1[27684187];U2AF2[27684187];CCL5[25640309];IARS2[19490893];FCGR1A[19490893];CTNNAL1[19490893];TRIM44[19490893];DCAF13[19490893];HNRNPA0[27684187];NDUFA9[19490893];NOP56[19490893];PTPN1[19490893];CTNS[19490893];RPL35A[27684187];CDC5L[27684187];RPL23A[27684187];PML[26496610];TSPAN15[19490893];PINK1[19490893];KIAA0101[19490893];POLR3B[19490893];TRIM39[19490893];DNAJA3[18624398];EIF3G[19490893];POLR3F[19490893];RQCD1[19490893];TRIM36[19490893];MNDA[19490893];EIF3E[27684187];NAGS[19490893];EIF3C[19490893];EIF3D[27684187];EIF3A[19490893];METAP2[19490893];APP[21832049];C12orf56[19490893];ZMYND8[26496610];EIF4A3[19490893];RTCB[27684187];ACSM4[19490893];TAS2R62P[19490893];LGALS3[27684187];RPS14[27684187];PNN[27684187];FRAT1[26496610];RASSF2[12732644];RPS19[24104479];RPL18A[24104479;27684187];SNRPD2[24104479];TRIM28[27684187];RASSF5[11857081];CDC27[19490893];MAGOH[27684187];DAG1[19490893];ARL6IP5[27229929];BTRC[24709419];C12orf66[24104479];SOX4[28628118];SRRM2[27684187];JMJD4[24104479];C16orf72[24104479];MRGPRG-AS1[19490893];SLC11A2[19490893];FNDC9[19490893];CRNKL1[19490893];SRRM1[27684187];SPATA17[19490893];KARS[19490893];KCTD12[19490893];BCORL1[19490893];RIN1[28514442];KPRP[19490893];WFDC12[19490893];SPTBN5[19490893];EPB42[3276554];ANP32A[27684187];DHX9[27684187];DCUN1D3[27684187];LPAR1[21988832];TWIST1[19490893];PIK3R2[21988832];ZBTB5[19490893];GSPT1[19490893;27684187];SEC14L3[19490893];SNX2[19490893];SPAST[19490893];DHX38[19490893];TNRC18[19490893];RCE1[28162770];A2M[19490893];RALGDS[10783161;7809086;21988832];SPTBN1[27684187];SRPK2[27684187];XRCC6[27684187];YES1[27684187];XRCC5[27684187];TNFSF13[25640309];OSGIN1[25640309];DCLK2[19490893];PARP12[19490893];UBAC2[19490893];SRPK1[27684187];CRNN[19490893];POLA1[19490893];RPS25[27684187];RPS28[27684187];SNW1[19490893];VNN1[19490893];RPS29[26496610];RPL27A[27684187];CDC16[19490893];MPHOSPH10[27684187];GRB2[26627737];RNPS1[27684187];RPS20[27684187];CALR[19490893];CALM1[11585916;12727204;27684187];RGL2[21988832];ITM2A[19490893];DIRAS3[24104479;25640309];ACVRL1[19490893];CSRNP1[19490893];SUV39H2[19490893];CCDC120[19490893];IL24[25640309];OLA1[27684187];IKBKAP[19490893];C6orf48[19490893];PRPF19[27684187];EDA2R[19490893];SYNCRIP[27684187];XPO1[19490893];SH3PXD2B[19490893];PHGDH[27684187];RAC1[27684187];CCDC112[19490893];CAP1[27684187];CCT2[19490893];SEC13[27684187];CCDC114[24104479];KRT32[19490893];ZDHHC17[24705354];RHOA[27229929];MLF2[19490893];NR5A1[19490893];HCK[19490893];KIF2C[19490893];PABPC1[27684187];MATN2[19490893];SDCCAG8[19490893];NAPA[24104479];YAP1[27684187];CXorf40A[19490893];GNAI3[27684187];IGHMBP2[27684187];NOL8[19490893];UQCR10[19490893];NOL3[19490893];GNAI2[27684187];LIMA1[26496610];EXOSC4[19490893];RELN[19490893];CREG1[19490893];EBLN2[19490893];SHOC2[10783161;28162770];CCT7[21900206];CCT5[27684187];LMLN[24104479];CA12[19490893];GDF10[19490893];SVIL[24104479];NQO2[19490893];MTX2[19490893];HUWE1[19490893];RPA2[19490893];SORBS3[26496610];RGP1[19490893];NBR2[19490893];VMP1[19490893];MIS18A[19490893];HNRNPA2B1[27684187];KIAA0509[19490893];PNPLA4[24104479;19490893];CTNNB1[27684187];PRPF31[24104479];TRIP12[27684187];F2RL3[19490893];NDUFA13[27229929];CD83[24104479];WWC1[19490893];UBE3B[19490893];TOMM20[19490893];IGF1R[27684187];ACTG1[27684187];FBL[19490893];NPM1P13[19490893];CWC22[24104479];ENPP4[19490893];ENPP5[19490893];KDM2A[19490893];ZGPAT[19490893];TMOD3[27684187];ADAM10[24104479];LMO7[27684187];MID1[19490893];RPP25L[19490893];GRIP2[19490893];RSBN1[19490893];EEF1A1[21900206;19490893;27684187];PRPF3[24104479];PPIE[27684187];RAF1[10783161;10882715;19029954;23153539;16041367;16093354;10958680;25852190;26721396;26627737;28162770;15192046;28628118;27684187];EMID1[19490893];GCM2[19490893];RTN2[19490893];PSMD12[19490893;27684187];TMED10[19490893];RBM8A[27684187];CTTNBP2[19490893];PSEN1[19490893];RPF2[19490893];RPF1[19490893];EFNB2[19490893];HCAR1[19490893];ZMAT1[19490893];TMEM248[19490893];DHRS7C[19490893];ZC3H18[19490893];ZC3H13[19490893];FAM83D[26496610];MYH10[27684187];ZC3H15[19490893];HSPA9[19490893;27684187];HSPA8[27684187];DARS[27684187];UBE2I[19490893];KLHL25[19490893];NONO[24104479];TBCD[19490893];GNB2L1[27684187];HIGD2A[19490893];QDPR[25640309];DLG1[27684187];EIF2S3[27684187];CYP11B1[19490893];GNB2[27684187];STT3A[19490893];UBA1[19490893];SAE1[19490893];UBE2M[19490893];YWHAE[27684187];KDM5B[24104479];ABCD3[26496610];DDX3X[27684187];DDX47[21988832];LOC255654[19490893];LOC284379[19490893];DDX43[19490893];HSPB1[27684187];YBX1[27684187];ELAVL1[19322201];TTC27[24104479];GMPPB[19490893];RPS4X[27684187];SEC61A1[27684187];USP30[19490893];HSDL2[19490893];TGIF2[19490893];OR2H2[19490893];TTC31[26496610];TBC1D8[24104479];DDX50[21988832];ARID1B[19490893];YWHAZ[27684187];CCNA2[19490893];DNM3[19490893];SFPQ[24104479];NAV3[19490893];UBE2R2[19490893];THRAP3[27684187];HKDC1[24104479];MYH9[27684187];MCPH1[19490893];KDM3B[19490893];DDX24[27684187];DCTN4[19490893];MVP[19490893];PON2[19490893];RAP1GDS1[11948427;20709748];VPRBP[19490893];OR4K1[19490893];CLCN1[19490893];ASB16[19490893];HSPD1[19490893;27684187];NXF1[19490893];CAND1[27684187];KDELC1[19490893];GNG5[27684187];MAPK1[10958680;26627737];HSD3B7[19490893];RBM39[27684187];NAA10[19490893];HSD3B2[19490893];POLM[19490893];PLA2G2A[19490893];PDE4DIP[21900206];PHKBP2[19490893];NAP1L6[19490893];CARM1[19490893];ACIN1[27684187];KRAS[19490893;27213482;27684187];THRSP[25640309];S100P[27684187];NAA15[19490893];TAF1[24104479];CCDC171[19490893]"
  interactions_consensus_path_db: "BRAF[0.999];RAP1GDS1[0.006];APP[0.989];LGALS3[0.944];RASSF2[0.126];RALGDS[0.629];ARAF[0.012];SHOC2[0.839];RAF1[0.999];OSGIN1[0.005];IGSF21[0.005];HNRNPC[0.197];FRAT2[0.034];YWHAH[NA];PPP6C[NA];TIMM50[NA];SLC25A22[NA];DDX5[NA];ATP5MD[NA];YWHAQ[NA];STUB1[NA];TECR[NA];RCN2[NA];YWHAB[NA];TUBA4A[NA];FKBP5[NA];CTNNA1[NA];MAP2K2[NA];RPL39P5[NA];TRIM28[NA];LRRC59[NA];TUBB6[NA];EEF2[NA];DPM1[NA];SLC25A13[NA];YBX3[NA];ARAF[NA];AIFM1[NA];DNAJA2[NA];SLC25A1[NA];YWHAG[NA];RPL37[NA];YWHAZ[NA];ATP5F1B[NA];KIF1BP[NA];SDF4[NA];YWHAE[NA];MT-CYB[0.004];STX17[0.730];IL24[0.007];GATAD2A[NA];TSPYL1[NA];CHERP[NA];GATAD2B[NA];TSPYL2[NA];MGA[NA];HDAC1[NA];ZNF532[NA];PSMD5[NA];MTA1[NA];ZMYND8[NA];CHD4[NA];ZNF687[NA];RBBP7[NA];ZCCHC17[NA];ZNF592[NA];MBD3[NA];HDAC2[NA];ESF1[NA];RPS27L[NA];MTA2[NA];MBD2[NA];PDE4DIP[0.445];HEMGN[0.118];MOCS2[0.157];DDX47[0.106];DIRAS3[0.995];COPS7B[NA];LSM11[NA];PML[NA];MED4[NA];GOLIM4[NA];FAM83D[NA];RPS29[NA];NCBP2-AS2[NA];ABCD3[NA];C1orf131[NA];TXNL4A[NA];SORBS3[NA];GATAD2A[NA];TEDC1[NA];NUP107[NA];DEAF1[0.124];ZDHHC17[0.802];CCT7[0.789];EEF1A1[0.780];THRSP[0.216];CDK8[0.624];SERPINB5[0.351];EMD[NA];YWHAE[NA];YWHAZ[NA];SFN[NA];YWHAG[NA];CCT8[NA];CALU[NA];YWHAH[NA];RAF1[NA];YWHAB[NA];YWHAQ[NA];DNAJA1[NA];TIMM50[NA];QDPR[0.998];CCL5[0.982];GSK3A[NA];GSK3B[NA];FRAT1[NA];PIAS1[NA];UQCRC1[0.996];ZNF189[0.088];EGLN1[0.747];LPAR1[0.985];TNFSF13[0.939];PPP2CB[0.889];IGFBP3[0.273];PDE6D[0.006];DDX50[0.721];FANCC[0.327];PIK3R2[0.823];MT-CO3[0.004];ADH6[0.005];RASSF5[0.608];PIK3CG[0.988];BCL2[0.999];EPB42[0.720];PGGT1B[0.086];FNTB[0.874];RASGRP2[0.996];FNTA[0.754];MAPK12[NA];HSP90AB1[NA];PIK3CA[0.831];RASGRF2[0.990];DNAJA3[0.996];PHB[0.998];RGL2[0.041];MAPK1[0.999];BTRC[0.845];TRAF6[0.997];MDFI[0.166];PSMA3[0.795];RBPMS[0.161];BCAS3[0.523];FRAT1[0.891];ZMYND8[0.623];LIMA1[0.747];PML[0.996];ABCD3[0.967];RPS29[0.369];SORBS3[0.763];TXNL4A[0.181];GOLIM4[0.807];MED4[0.704];GATAD2A[0.188];NUP107[0.965];TTC31[0.004];COPS7B[0.213];FAM83D[0.109];C1orf131[0.004];LSM11[0.187];PTGR2[0.551];NCBP2-AS2[0.004];TEDC1[0.004];FAM129B[0.162];DUSP22[0.158];RIN1[0.954];ARL6IP5[0.772];LYPD4[0.820];NDUFA13[0.999];RHOA[0.997];HSPD1[0.970]"
  haploinsufficiency: 0.99997
  hipred_score: 0.76946485042572
  hipred: Y
  ghis: 0.620930274
  prec: 0.53296
  known_rec_info: "."
  rvis_evs: -0.14
  rvis_percentile_evs: 42.88
  lof_fdr_exac: 0.9387169
  rvis_exac: -0.181726402
  rvis_percentile_exac: 37.93747365
  exac_pli: 0.00106119304255182
  exac_prec: 0.603148256118395
  exac_pnull: 0.395790550839053
  exac_nontcga_pli: 0.00567377477963463
  exac_nontcga_prec: 0.721905890068335
  exac_nontcga_pnull: 0.27242033515203
  exac_nonpsych_pli: 0.000800455744248145
  exac_nonpsych_prec: 0.51252706732373
  exac_nonpsych_pnull: 0.486672476932022
  gnomad_pli: 0.71966
  gnomad_prec: 0.26773
  gnomad_pnull: 0.01261
  exac_del_score: 0.0889959436718797
  exac_dup_score: -0.602982016480107
  exac_cnv_score: -0.376348743051731
  exac_cnv_flag: N
  gdi: 3.46519
  gdi_phred: 0.12617
  gdp_all_disease_causing: Medium
  gdp_all_mendelian: Medium
  gdp_all_mendelian_ad: Low
  gdp_mendelian_ar: Low
  gdp_pid: Medium
  gdp_pid_ad: Medium
  gdp_pid_ar: Low
  gdp_cancer: Medium
  gdb_cancer_rec: Low
  gdp_cancer_dom: Medium
  loftool_score: 0.19
  sorva_lof_maf_5_het_or_hom: 0
  sorva_lof_maf_5_hom_or_comphet: 0
  sorva_lof_maf_1_het_or_hom: 0
  sorva_lof_maf_1_hom_or_comphet: 0
  sorva_lof_or_mis_maf_5_het_or_hom: 0.0011980830670926517
  sorva_lof_or_mis_maf_5_hom_or_comphet: 0
  sorva_lof_or_mis_maf_1_het_or_hom: 0.0011980830670926517
  sorva_lof_or_mis_maf_1_hom_or_comphet: 0
  essential_gene: E
  essential_gene_crispr: E
  essential_gene_crispr2: N
  essential_gene_gene_trap: K
  gene_indispensability_score: 0.990177936755523
  gene_indispensability_pred: E
  mgi_mouse_gene: Kras
  mgi_mouse_phenotype: "muscle phenotype; craniofacial phenotype; cellular phenotype; homeostasis/metabolism phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; endocrine/exocrine gland phenotype; neoplasm; pigmentation phenotype; limbs/digits/tail phenotype; hearing/vestibular/ear phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); digestive/alimentary phenotype; vision/eye phenotype; immune system phenotype; renal/urinary system phenotype; skeleton phenotype; embryo phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system phenotype; respiratory system phenotype; normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; "
  zfin_zebrafish_gene: kras
  zfin_zebrafish_structure: nucleate erythrocyte
  zfin_zebrafish_phenotype_quality: mislocalised
  zfin_zebrafish_phenotype_tag: abnormal
- gene_name: TTN
  ensembl_gene: ENSG00000155657
  chr: "2"
  gene_old_names: CMD1G
  gene_other_names: CMPD4;FLJ32040;TMD;CMH9;LGMD2J;MYLK5
  uniprot_acc: Q8WZ42
  uniprot_id: TITIN_HUMAN
  entrez_gene_id: "7273"
  ccds_id: CCDS54421;CCDS54422;CCDS54423;CCDS54424;CCDS33337;CCDS59435;CCDS74610
  refseq_id: NM_001256850;NM_133378
  ucsc_id: uc031rqc.3
  mim_id: "188840"
  omim_id: "188840"
  gene_full_name: titin
  pathway_uniprot: "."
  pathway_biocarta_short: "."
  pathway_biocarta_full: "."
  pathway_consensus_path_db: "Dilated cardiomyopathy (DCM) - Homo sapiens (human);Hypertrophic cardiomyopathy (HCM) - Homo sapiens (human);Striated Muscle Contraction;Striated Muscle Contraction;Muscle contraction;Platelet degranulation;Response to elevated platelet cytosolic Ca2+;Platelet activation, signaling and aggregation;Hemostasis"
  pathway_kegg_id: "."
  pathway_kegg_full: "."
  function_description: "FUNCTION: Key component in the assembly and functioning of vertebrate striated muscles. By providing connections at the level of individual microfilaments, it contributes to the fine balance of forces between the two halves of the sarcomere. The size and extensibility of the cross-links are the main determinants of sarcomere extensibility properties of muscle. In non-muscle cells, seems to play a role in chromosome condensation and chromosome segregation during mitosis. Might link the lamina network to chromatin or nuclear actin, or both during interphase. {ECO:0000269|PubMed:9804419}."
  disease_description: "DISEASE: Hereditary myopathy with early respiratory failure (HMERF) [MIM:603689]: Autosomal dominant, adult-onset myopathy with early respiratory muscle involvement. {ECO:0000269|PubMed:15802564}. Note=The disease is caused by mutations affecting the gene represented in this entry.;DISEASE: Cardiomyopathy, familial hypertrophic 9 (CMH9) [MIM:613765]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269|PubMed:10462489}. Note=The disease is caused by mutations affecting the gene represented in this entry.;DISEASE: Cardiomyopathy, dilated 1G (CMD1G) [MIM:604145]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:11788824, ECO:0000269|PubMed:11846417, ECO:0000269|PubMed:16465475}. Note=The disease is caused by mutations affecting the gene represented in this entry.;DISEASE: Tardive tibial muscular dystrophy (TMD) [MIM:600334]: Autosomal dominant, late-onset distal myopathy. Muscle weakness and atrophy are usually confined to the anterior compartment of the lower leg, in particular the tibialis anterior muscle. Clinical symptoms usually occur at age 35-45 years or much later. {ECO:0000269|PubMed:12145747, ECO:0000269|PubMed:12891679}. Note=The disease is caused by mutations affecting the gene represented in this entry.;DISEASE: Limb-girdle muscular dystrophy 2J (LGMD2J) [MIM:608807]: An autosomal recessive degenerative myopathy characterized by progressive weakness of the pelvic and shoulder girdle muscles. Severe disability is observed within 20 years of onset. {ECO:0000269|PubMed:12145747}. Note=The disease is caused by mutations affecting the gene represented in this entry.;DISEASE: Salih myopathy (SALMY) [MIM:611705]: An autosomal recessive, early-onset muscular disorder characterized by dilated cardiomyopathy, delayed motor development with generalized muscle weakness predominantly affecting proximal and distal lower limbs. Skeletal muscle biopsies show minicore-like lesions with mitochondrial depletion and sarcomere disorganization, centralized nuclei, and type 1 fiber predominance. Dystrophic changes become apparent in the second decade. Cardiac muscle biopsies show disruption of myocardial architecture, nuclear hypertrophy, and endomysial fibrosis. Sudden death may occurr due to cardiomyopathy. {ECO:0000269|PubMed:17444505}. Note=The disease is caused by mutations affecting the gene represented in this entry."
  mim_phenotype_id: 600334;603689;604145;608807;611705;613765
  mim_disease: "[MIM:603689]Hereditary myopathy with early respiratory failure;[MIM:613765]Cardiomyopathy, familial hypertrophic 9;[MIM:604145]Cardiomyopathy, dilated 1G;[MIM:600334]Tardive tibial muscular dystrophy;[MIM:608807]Limb-girdle muscular dystrophy 2J [recessive?];[MIM:611705]Salih myopathy [recessive?]"
  orphanet_disorder_id: 169186;154;178464;140922;324604;293910;293899;293888;289377;466921;609
  orphanet_disorder: "Autosomal recessive centronuclear myopathy;Familial isolated dilated cardiomyopathy;Hereditary myopathy with early respiratory failure;Autosomal recessive limb-girdle muscular dystrophy type 2J;Classic multiminicore myopathy;Familial isolated arrhythmogenic ventricular dysplasia, right dominant form;Familial isolated arrhythmogenic ventricular dysplasia, biventricular form;Familial isolated arrhythmogenic ventricular dysplasia, left dominant form;Early-onset myopathy with fatal cardiomyopathy;Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome;Tibial muscular dystrophy"
  orphanet_association_type: Disease-causing germline mutation(s) in;Disease-causing germline mutation(s) in;Disease-causing germline mutation(s) in;Disease-causing germline mutation(s) in;Disease-causing germline mutation(s) (loss of function) in;Disease-causing germline mutation(s) in;Disease-causing germline mutation(s) (loss of function) in;Disease-causing germline mutation(s) (loss of function) in;Disease-causing germline mutation(s) in;Disease-causing germline mutation(s) (loss of function) in;Disease-causing germline mutation(s) in
  trait_association_gwas: "QT interval[20031603;24952745;29213071];Bone mineral density (hip)[30172743];Resting heart rate[27798624];Atrial fibrillation[29290336;29290336;30061737;29892015;29892015];Epstein-Barr virus copy number in lymphoblastoid cell lines[28654678];Breast size[22747683];Waist-to-hip ratio adjusted for BMI x sex interaction[26426971];Heart rate response to recovery post exercise (10 sec)[29497042;29497042];Rapid functional decline in sporadic amyotrophic lateral sclerosis[26746183];Heart rate response to recovery post exercise (20 sec)[29497042]"
  hpo_id: "HP:0003687;HP:0011675;HP:0000508;HP:0003198;HP:0003593;HP:0003236;HP:0003577;HP:0000007;HP:0001699;HP:0002650;HP:0008981;HP:0003324;HP:0010628;HP:0001270;HP:0001644;HP:0001371;HP:0030059;HP:0003236;HP:0003202;HP:0002460;HP:0003236;HP:0011463;HP:0003701;HP:0003560;HP:0003676;HP:0000007;HP:0003458;HP:0003828;HP:0008963;HP:0031237;HP:0003458;HP:0003202;HP:0003236;HP:0003722;HP:0003803;HP:0008800;HP:0003557;HP:0012764;HP:0003805;HP:0002091;HP:0002527;HP:0003555;HP:0002792;HP:0002747;HP:0008981;HP:0009027;HP:0100293;HP:0003701;HP:0008978;HP:0000006;HP:0003581;HP:0003458;HP:0003376;HP:0003677;HP:0003829;HP:0003805;HP:0003560;HP:0000982;HP:0003457;HP:0100578;HP:0001644;HP:0003236;HP:0001874;HP:0000407;HP:0003198;HP:0002515;HP:0001618;HP:0001762;HP:0003551;HP:0001761;HP:0003700;HP:0001256;HP:0001270;HP:0000160;HP:0001260;HP:0003691;HP:0000411;HP:0001349;HP:0003803;HP:0000602;HP:0001284;HP:0000193;HP:0000750;HP:0002093;HP:0003307;HP:0001290;HP:0009046;HP:0000278;HP:0003391;HP:0003403;HP:0000276;HP:0003687;HP:0001654;HP:0001712;HP:0003323;HP:0100807;HP:0000218;HP:0003273;HP:0005991;HP:0004889;HP:0001763;HP:0100295;HP:0001290;HP:0002421;HP:0000218;HP:0003306;HP:0000303;HP:0002194;HP:0001667;HP:0001385;HP:0009058;HP:0001708;HP:0003741;HP:0000308;HP:0002828;HP:0030319;HP:0002650;HP:0001508;HP:0001620;HP:0003700;HP:0002877;HP:0001635;HP:0002091;HP:0003327;HP:0004322;HP:0001634;HP:0001644;HP:0000006;HP:0001639;HP:0003557;HP:0003722;HP:0002359;HP:0003547;HP:0003701;HP:0003828;HP:0002792;HP:0003236;HP:0000006;HP:0003805;HP:0009113;HP:0003749;HP:0002355;HP:0009027;HP:0002877;HP:0003581;HP:0002878;HP:0003677;HP:0008981;HP:0003555;HP:0003715;HP:0003731;HP:0003805;HP:0009058;HP:0008180;HP:0031374;HP:0003557;HP:0009027;HP:0009049;HP:0003376;HP:0008959;HP:0003687;HP:0003458;HP:0002312;HP:0003731;HP:0002355;HP:0001678;HP:0012664;HP:0005110;HP:0001644;HP:0000006;HP:0004756;HP:0001635;HP:0006699"
  hpo_name: "Centrally nucleated skeletal muscle fibers;Arrhythmia;Ptosis;Myopathy;Infantile onset;Elevated serum creatine kinase;Congenital onset;Autosomal recessive inheritance;Sudden death;Scoliosis;Calf muscle hypertrophy;Generalized muscle weakness;Facial palsy;Motor delay;Dilated cardiomyopathy;Flexion contracture;Mitochondrial depletion;Elevated serum creatine kinase;Skeletal muscle atrophy;Distal muscle weakness;Elevated serum creatine kinase;Childhood onset;Proximal muscle weakness;Muscular dystrophy;Progressive;Autosomal recessive inheritance;EMG: myopathic abnormalities;Variable expressivity;Tibialis muscle weakness;Internally nucleated skeletal muscle fibers;EMG: myopathic abnormalities;Skeletal muscle atrophy;Elevated serum creatine kinase;Neck flexor weakness;Type 1 muscle fiber predominance;Limited hip movement;Increased variability in muscle fiber diameter;Orthopnea;Rimmed vacuoles;Restrictive ventilatory defect;Falls;Muscle fiber splitting;Reduced vital capacity;Respiratory insufficiency due to muscle weakness;Calf muscle hypertrophy;Foot dorsiflexor weakness;Muscle fiber hypertrophy;Proximal muscle weakness;Necrotizing myopathy;Autosomal dominant inheritance;Adult onset;EMG: myopathic abnormalities;Steppage gait;Slow progression;Incomplete penetrance;Rimmed vacuoles;Muscular dystrophy;Palmoplantar keratoderma;EMG abnormality;Lipoatrophy;Dilated cardiomyopathy;Elevated serum creatine kinase;Abnormality of neutrophils;Sensorineural hearing impairment;Myopathy;Waddling gait;Dysphonia;Talipes equinovarus;Difficulty climbing stairs;Pes cavus;Generalized amyotrophy;Intellectual disability, mild;Motor delay;Narrow mouth;Dysarthria;Scapular winging;Protruding ear;Facial diplegia;Type 1 muscle fiber predominance;Ophthalmoplegia;Areflexia;Bifid uvula;Delayed speech and language development;Respiratory insufficiency;Hyperlordosis;Generalized hypotonia;Difficulty running;Retrognathia;Gowers sign;EMG: decremental response of compound muscle action potential to repetitive nerve stimulation;Long face;Centrally nucleated skeletal muscle fibers;Abnormal heart valve morphology;Left ventricular hypertrophy;Progressive muscle weakness;Long fingers;High palate;Hip contracture;Limited neck flexion;Intermittent episodes of respiratory insufficiency due to muscle weakness;Pes planus;Muscle fiber atrophy;Generalized hypotonia;Poor head control;High palate;Spinal rigidity;Mandibular prognathia;Delayed gross motor development;Right ventricular hypertrophy;Hip dysplasia;Increased muscle lipid content;Right ventricular failure;Congenital muscular dystrophy;Microretrognathia;Multiple joint contractures;Weakness of facial musculature;Scoliosis;Failure to thrive;High pitched voice;Generalized amyotrophy;Nocturnal hypoventilation;Congestive heart failure;Restrictive ventilatory defect;Axial muscle weakness;Short stature;Mitral valve prolapse;Dilated cardiomyopathy;Autosomal dominant inheritance;Hypertrophic cardiomyopathy;Increased variability in muscle fiber diameter;Neck flexor weakness;Frequent falls;Shoulder girdle muscle weakness;Proximal muscle weakness;Variable expressivity;Reduced vital capacity;Elevated serum creatine kinase;Autosomal dominant inheritance;Rimmed vacuoles;Diaphragmatic weakness;Pelvic girdle muscle weakness;Difficulty walking;Foot dorsiflexor weakness;Nocturnal hypoventilation;Adult onset;Respiratory failure;Slow progression;Calf muscle hypertrophy;Muscle fiber splitting;Myofibrillar myopathy;Quadriceps muscle weakness;Rimmed vacuoles;Increased muscle lipid content;Mildly elevated creatine kinase;Ankle weakness;Increased variability in muscle fiber diameter;Foot dorsiflexor weakness;Peroneal muscle atrophy;Steppage gait;Distal upper limb muscle weakness;Centrally nucleated skeletal muscle fibers;EMG: myopathic abnormalities;Clumsiness;Quadriceps muscle weakness;Difficulty walking;Atrioventricular block;Reduced ejection fraction;Atrial fibrillation;Dilated cardiomyopathy;Autosomal dominant inheritance;Ventricular tachycardia;Congestive heart failure;Premature atrial contractions"
  go_biological_process: platelet degranulation;cardiac muscle hypertrophy;muscle contraction;striated muscle contraction;mitotic chromosome condensation;positive regulation of gene expression;protein kinase A signaling;peptidyl-tyrosine phosphorylation;muscle filament sliding;skeletal muscle thin filament assembly;skeletal muscle myosin thick filament assembly;detection of muscle stretch;sarcomere organization;regulation of protein kinase activity;cardiac muscle fiber development;sarcomerogenesis;positive regulation of protein secretion;regulation of catalytic activity;response to calcium ion;cardiac myofibril assembly;cardiac muscle tissue morphogenesis;cardiac muscle contraction;striated muscle myosin thick filament assembly
  go_cellular_component: condensed nuclear chromosome;extracellular region;cytosol;striated muscle thin filament;sarcomere;Z disc;M band;I band;extracellular exosome
  go_molecular_function: protease binding;protein serine/threonine kinase activity;protein tyrosine kinase activity;calcium ion binding;protein binding;calmodulin binding;ATP binding;structural constituent of muscle;enzyme binding;protein kinase binding;telethonin binding;identical protein binding;actinin binding;protein self-association;actin filament binding;muscle alpha-actinin binding;structural molecule activity conferring elasticity
  tissue_specificity_uniprot: "Isoforms 3, 7 and 8 are expressed in cardiac muscle. Isoform 4 is expressed in vertebrate skeletal muscle. Isoform 6 is expressed in skeletal muscle (at protein level). {ECO:0000269|PubMed:11717165, ECO:0000269|PubMed:7819249}."
  expression_egenetics: tongue;alveolus;skin;myocardium;testis;lens;unclassifiable (Anatomical System);choroid;larynx;kidney;uterus;retina;whole body;pancreas;muscle;head and neck;spinal cord;atrium;skeletal muscle;visual apparatus;fovea centralis;spleen;liver;peripheral nerve;bone;germinal center;parathyroid;blood;heart;bone marrow;lung;ovary;thyroid;macula lutea;frontal lobe;colon;placenta;prostate;nasopharynx;optic nerve
  expression_gnf_atlas: pons;fetal thyroid;thyroid;tongue;trigeminal ganglion;atrioventricular node;superior cervical ganglion;testis;skeletal muscle;globus pallidus
  interactions_intact: "ENO1[23414517];ENO3[23414517];AMOT[23414517];IGHG1[15174051];MYC[21150319];HIST1H2AE[30021884];CAPN3[20860623;23414517];SH3GLB1[23414517];ACTN3[23414517];ACTN2[9501083;16902413;23414517;11101506;11846417];HIST1H2AH[30021884];ACTN1[11101506];FNDC3B[23414517];KRT8[30021884];ACTN4[23414517];OBSCN[11448995;20489725;23414517;20133654];SCO1[29568061];PARD3[23414517];CLIP4[23414517];ERP29[30021884];VDAC1[17353931];HIST1H2BH[30021884];OBSL1[20489725;20133654];OPTN[23414517];ASF1B[17353931];SF1[23414517];MYCBP2[23414517];PIK3R4[30021884];GABARAP[23414517];HNRNPDL[30021884];STK38L[30108113];ANKRD28[23414517];SRPK2[23602568];NEK9[23414517];UBE2I[23414517];SMURF2[18157088];FN1[23414517];HMGA1[30021884];NEB[16902413;12482578];H2BFS[30021884];ESR1[25604459];ESR2[25604459];CCT6A[23414517];HNRNPF[30021884];ALB[15174051];CALU[30021884];TAB2[23414517];STT3B[30021884];CALM1[7607248];HNRNPA1L2[30021884];RYR1[23414517];MYOM1[23414517];SYNM[25447537];DYRK2[23602568];ITGB5[23414517];MAST2[23414517];FHL1[23414517];DYSF[23414517];HSPB2[26465331];MED19[15175163];ARRB1[17620599];ASH2L[23414517];PYGM[23414517];CHD4[23414517];C1QTNF9[23414517];KRI1[30021884];JPH1[23414517];MYOM2[23414517];HK1[29568061];MAP1LC3B[20562859];MED10[15175163];ANKRD1[23414517];PHGDH[23414517];NEO1[23414517];SGCG[23414517];HIST1H1B[30021884];HIST1H1C[30021884];SUN2[22555292];DFFA[17353931];MYBPC1[23414517];TRIM63[18157088;23414517];MYBPC2[23414517];DDX56[17353931];MED26[15175163];YWHAZ[20618440];HIST2H2BF[30021884];MED29[15175163];HIST2H2BE[30021884];VAV2[18654987;23414517];ACTA2[9501083];RNF167[23414517];PKM[24606918];ITGB1BP2[23414517];RPL12[23414517];POMP[23414517];FSTL1[20860622];TTN[9804419;23414517;16407954;16962974];ABLIM1[23414517];ABLIM2[23414517];EXOSC10[23414517];UGP2[23414517];ATP5F1B[30021884];PUF60[17353931];DNAJB6[23414517];DNAJB5[23414517];FLNA[16902413];EBLN1[30021884];NPM1[30021884];MCRS1[17353931];MYBPH[23414517];HSPE1[30021884];ATP5F1D[23414517];KTN1[30021884];RSL1D1[30021884];TTC3[23414517];HNRNPA2B1[30021884];TCAP[16962094;23414517;15582318;11846417;16407954;19622741];TARDBP[30021884];LIMS1[23414517];HSPA1A[23414517]"
  interactions_biogrid: "CEP57[23443559];TOP2A[27453043];DYRK2[23602568];FHL1[22778266];FHL2[12432079];HSPB2[26465331];ARRB1[17620599];BRCA1[26831064];MYPN[14583192];RBM3[26472337];TUBA1A[27453043];YWHAQ[20618440];HEY1[27129302];CDH1[25468996];CHEK2[27453043];CHEK1[27453043];ANKRD1[14583192];CAPN3[9642272;8537379];ANXA7[26344197];ANKRD2[14583192];MYBPC3[8631348];TLE3[28514442];MAP2K1[27453043];TRIM63[11243782;15967462;17215480;24850911;18157088];ACTN1[11305911;9501083];TSC22D2[27337956];TOP3A[27453043];ANK1[12444090];VAV2[18654987];ADAM2[28514442];OBSCN[11448995;17716621];EWSR1[24999758];GAN[26460568];SRSF2[22939629];RAPGEF2[25332235];TOP1[27453043];SQSTM1[15802564];CRYAB[14676215];TRIM55[18157088];ASF1B[17353931];MCM2[25963833];CUL7[24711643];CUL3[21145461];CUL2[21145461];NEDD8[21145461];ADRB2[23798571];RNF2[24457600];EGFR[28065597];PUF60[17353931];LMNA[25948554];MAPK1[22778266;27453043];SPEN[22939629];SRPK2[23602568];NTRK1[25921289];CPSF6[22939629];ANKRD23[14583192];UBE2A[28031328];WEE1[27453043];COPS5[21145461];SP1[22266860];NBR1[15802564];CDK2[21319273;25852190];ALB[15174051];TCAP[9817758;9804419;12446666;9645487;15802564];CALM1[7607248];CUL4B[21145461]"
  interactions_consensus_path_db: "TSGA10[0.008];ADRB2[0.377];SMURF2[0.800];CAPN3[0.999];MAST2[0.947];SH3GLB1[0.802];OBSCN[1];TCAP[1];MYBPC2[0.999];DYSF[0.829];RNF167[0.144];FNDC3B[0.378];MCRS1[0.998];DNAJB6[0.846];NEO1[0.021];PUF60[0.891];DNAJB5[0.946];ACTN2[0.999];PHGDH[0.999];EXOSC10[0.987];LIMS1[0.655];NEB[1];OBSL1[0.999];MED25[NA];MED15[NA];HAUS7[NA];SRSF3[NA];NONO[NA];CDK8[NA];MED23[NA];HSPA1L[NA];POLR2I[NA];POLR2L[NA];NOP58[NA];MED8[NA];TARDBP[NA];MYBBP1A[NA];DDX3X[NA];MED19[NA];POLR2F[NA];U2SURP[NA];CMSS1[NA];POLR2E[NA];EEF1A1[NA];MED6[NA];CDK19[NA];POLR2D[NA];MED12[NA];TMLHE[NA];DDX20[NA];MED21[NA];MED9[NA];MED29[NA];MED22[NA];ZBTB9[NA];POLR2J[NA];MED10[NA];MED13L[NA];EXOC4[NA];MED28[NA];MED13[NA];POLR2B[NA];AIFM1[NA];MED17[NA];DNM2[NA];MED24[NA];MED14[NA];TRMT112[NA];DNAJA1[NA];POLR2G[NA];LUC7L3[NA];TMPO[NA];MED18[NA];RBM39[NA];SNRPD1[NA];HNRNPM[NA];MED7[NA];MED1[NA];POLR2A[NA];BAG2[NA];CCT3[NA];POLR2H[NA];CCNC[NA];MED4[NA];DIMT1[NA];MED27[NA];DICER1[NA];MED20[NA];MED11[NA];DNALI1[NA];DDX31[NA];MED30[NA];PRPF19[NA];DDX52[NA];POLR2C[NA];GCN1[NA];MED31[NA];MED16[NA];MED26[NA];PTBP1[NA];ATP5F1D[0.903];TRIM63[0.983];ECH1[NA];SYAP1[NA];KIAA1191[NA];UQCRC2[NA];ATAD3B[NA];C1orf198[NA];CLPB[NA];COX4I1[NA];CCDC58[NA];MRPS31[NA];ETFB[NA];HCCS[NA];NDUFA5[NA];TIMM9[NA];COX11[NA];APOOL[NA];NDUFS6[NA];CHCHD4[NA];CCDC51[NA];MRPS23[NA];AK2[NA];NDUFS7[NA];UBR4[NA];MICU2[NA];HAX1[NA];COX19[NA];ENDOG[NA];TMEM126B[NA];ACOT2[NA];SLC25A12[NA];YME1L1[NA];CMC2[NA];PTCD3[NA];OPA1[NA];IARS2[NA];MAVS[NA];COA6[NA];COX15[NA];SEC16A[NA];COX16[NA];ATP5F1C[NA];TIMM10[NA];ATP5PB[NA];ETFA[NA];OCIAD1[NA];NDUFA7[NA];LETM1[NA];UQCRC1[NA];TOMM70[NA];ATP5PO[NA];MTX3[NA];CRYBG3[NA];PYCR1[NA];PYCR2[NA];SNAP29[NA];FAM136A[NA];TIMM8B[NA];CMC4[NA];LACTB[NA];CDCA3[NA];CHCHD3[NA];CLPX[NA];TOMM22[NA];SCO1[NA];TIMM13[NA];IMMT[NA];TIMMDC1[NA];CPOX[NA];MRPS14[NA];GFER[NA];COA7[NA];NDUFS1[NA];COX17[NA];AFG3L2[NA];MTX2[NA];AKAP1[NA];TRIAP1[NA];COX6B1[NA];TTC19[NA];SAMM50[NA];MRPS22[NA];NDUFS2[NA];NUP93[NA];NDUFA8[NA];ATP5PF[NA];SMIM12[NA];ACOT1[NA];SLC25A13[NA];NDUFS3[NA];FHL3[NA];DNAJC11[NA];AKAP12[NA];CHCHD6[NA];SCO2[NA];BIRC6[NA];TIMM8A[NA];COX5A[NA];GLS[NA];MRPS36[NA];COX5B[NA];CLPP[NA];MYBPH[1];ASF1B[0.990];MYOM1[1];FLNA[0.999];TTC3[0.843];ITGB5[0.811];MYCBP2[0.965];ENO3[0.893];UBE2I[0.997];VAV2[0.988];DYRK2[NA];RB1CC1[NA];DYRK4[NA];MYZAP[NA];POLR2E[NA];POLR2F[NA];MED19[NA];MED8[NA];RECQL5[NA];POLR2L[NA];POLR2I[NA];HSPA1L[NA];MED23[NA];CDK8[NA];MED15[NA];MED25[NA];MED24[NA];MED17[NA];POLR2B[NA];MED28[NA];AFF4[NA];MED22[NA];EIF4A1[NA];MED9[NA];MED21[NA];MED12[NA];POLR2D[NA];CDK19[NA];MED26[NA];MED6[NA];DCD[NA];KPNA4[NA];MED16[NA];MED31[NA];P4HB[NA];POLR2C[NA];MED30[NA];MED11[NA];MED20[NA];SMN1[NA];KANSL3[NA];MED27[NA];GPN3[NA];MED4[NA];POLR2H[NA];POLR2A[NA];UBR5[NA];RPAP2[NA];MED1[NA];MED7[NA];HNRNPM[NA];DDX50[NA];MED18[NA];TMPO[NA];P3H1[NA];POLR2G[NA];MED14[NA];MED13[NA];MED13L[NA];MED10[NA];POLR2J[NA];MED29[NA];ELL2[NA];RYR1[0.999];ACTN3[0.999];ASH2L[0.979];SGCG[0.984];FHL1[0.937];SYNM[0.999];MYOM2[1];MIPEP[NA];ERBIN[NA];SEC31B[NA];NRXN3[NA];HSPA8[NA];TUBA4A[NA];MFGE8[NA];ARSB[NA];CSPP1[NA];ATAD3B[NA];RAB11FIP5[NA];UBC[NA];SPEG[NA];SDK1[NA];IL4R[NA];PTPN14[NA];LMO7[NA];NLRX1[NA];DOCK7[NA];NAV2[NA];RCOR3[NA];LRPPRC[NA];CNMD[NA];RIMS2[NA];ASPM[NA];IQCE[NA];CEP170[NA];IK[NA];SCO2[NA];KIF25[NA];MICALL2[NA];LMNA[NA];MLH3[NA];IKZF2[NA];PDZD2[NA];SPATA31E1[NA];TUT4[NA];MAX[NA];FAM122B[NA];XDH[NA];AMOTL2[NA];ROBO2[NA];CAVIN1[NA];MYC[NA];RIN3[NA];CAVIN3[NA];XYLT1[NA];DDX56[0.984];CLIP4[0.004];ACTN1[0.999];CCT6A[0.920];UGP2[0.778];ANKRD28[0.912];SRPK2[0.983];ACTN4[0.999];ENO1[0.999];CNP[NA];LYZ[NA];HADHA[NA];DDB1[NA];SRRM2[NA];CCDC25[NA];SMARCAD1[NA];PTCD3[NA];USH2A[NA];KRT24[NA];SRSF5[NA];CYCS[NA];KRT72[NA];GOLPH3[NA];PLEC[NA];TOGARAM1[NA];PDIA6[NA];RBMX[NA];CCT7[NA];TMF1[NA];HYOU1[NA];RPS26P11[NA];CFAP47[NA];KRT78[NA];IKZF5[NA];CALM3[NA];SUPT6H[NA];DCTN2[NA];SQOR[NA];PSMC1[NA];KRT4[NA];PRKCSH[NA];SF3B3[NA];PPP6C[NA];OCRL[NA];KRT36[NA];CCT6A[NA];PRMT5[NA];HSP90AB3P[NA];RPS18[NA];VPS13C[NA];PSMC2[NA];KLHL41[NA];MCM2[NA];KRT34[NA];SEC22B[NA];MYO16[NA];KRT15[NA];TARDBP[NA];HGH1[NA];PSMC4[NA];CCT3[NA];KRT31[NA];SART3[NA];DLAT[NA];OR4K3[NA];PSMD11[NA];OGDH[NA];MYLK2[NA];ACTN1[NA];HSPG2[NA];NUP205[NA];GAL3ST4[NA];TUBB3[NA];ESR2[NA];ARCN1[NA];PSMD4[NA];LARS[NA];KRT37[NA];COPB2[NA];COG6[NA];CAD[NA];RNFT2[NA];RPLP0P6[NA];PABPC3[NA];PSMD1[NA];PSMD13[NA];CAPZA1[NA];KRT75[NA];MRPL38[NA];LRRC8E[NA];FLG[NA];RUVBL2[NA];DSP[NA];RPS12[NA];NUDT2[NA];PSMC5[NA];CCDC87[NA];PI4KA[NA];LZTS3[NA];PREPL[NA];CTNNA2[NA];RPL12[NA];SNED1[NA];RPL14[NA];KRT33B[NA];RPL4[NA];OBSCN[NA];PSMC6[NA];BRD3[NA];PCBP1[NA];GTF3C1[NA];PSMB6[NA];TCP1[NA];SCRIB[NA];ACTN4[NA];RPS26[NA];KRTAP3-2[NA];KRT86[NA];SEC16A[NA];DCD[NA];PCBP3[NA];KIF5A[NA];FLG2[NA];TUBB4A[NA];P4HB[NA];MIA3[NA];CAPZA2[NA];COPG2[NA];EEF1G[NA];FLNA[NA];MYH9[NA];GORASP1[NA];ACTR1A[NA];RARB[NA];DLD[NA];MRPS9[NA];PSMD2[NA];SLC25A5[NA];KRT85[NA];SRSF2[NA];PPP1CA[NA];NFKB2[NA];POLDIP2[NA];SEC13[NA];RPS4X[NA];EPRS[NA];KRTAP3-1[NA];POLR2C[NA];PTBP1[NA];MED26[NA];MED16[NA];MED31[NA];MED13[NA];MED13L[NA];MED10[NA];POLR2J[NA];MED29[NA];ELL2[NA];POLR2G[NA];MED14[NA];MED1[NA];MED7[NA];RBM39[NA];MED18[NA];CCNC[NA];POLR2H[NA];POLR2A[NA];DDX3X[NA];MED11[NA];MED20[NA];KANSL3[NA];MED27[NA];TARDBP[NA];MED8[NA];MED4[NA];CCAR1[NA];POLR2K[NA];POLR2E[NA];MED30[NA];POLR2F[NA];MED19[NA];EEF1A1[NA];MED9[NA];MED21[NA];HDAC6[NA];TMLHE[NA];MED12[NA];POLR2D[NA];CDK19[NA];MED6[NA];POLR2B[NA];MED28[NA];AFF4[NA];MED22[NA];EIF4A1[NA];MED24[NA];MED17[NA];MED23[NA];CDK8[NA];NONO[NA];MED15[NA];MED25[NA];POLR2L[NA];RECQL5[NA];POLR2I[NA];HSPA1L[NA];JPH1[0.999];POMP[0.913];AMOT[0.967];RPL12[0.995];NEK9[0.812];ABLIM2[0.996];ANKRD1[0.999];CHD4[0.990];CALM3[0.999];GABARAP[0.993];VDAC1[0.903];HK1[NA];GNB4[NA];MAGED2[NA];ECH1[NA];ANXA2P2[NA];HAGH[NA];LRRC49[NA];ZFP14[NA];ARF4[NA];SEC16A[NA];ATP5F1C[NA];GRPEL1[NA];TPM4[NA];TAB2[0.905];ABLIM1[0.995];H1F0[NA];MYH9[NA];HNRNPC[NA];YWHAE[NA];MYL3[NA];TSC2[NA];VASP[NA];HIST1H4A[NA];YWHAZ[NA];MYLK2[NA];MYH2[NA];YWHAG[NA];H2AFX[NA];MYL12A[NA];LMNA[NA];MYH11[NA];ATP5F1A[NA];ANKRD18A[NA];TGIF2LY[NA];RALY[NA];ACTG1[NA];ACTB[NA];HNRNPA2B1[NA];CEP250[NA];CACNA1S[NA];VIM[NA];CBL[NA];MYH7[NA];YWHAH[NA];TPM1[NA];KRT18[NA];KRT8[NA];DES[NA];BANK1[NA];CALM3[NA];ACTN3[NA];HIST1H1T[NA];ACTN2[NA];HIST1H1C[NA];HIST1H2BD[NA];ACTA2[NA];HIST1H1D[NA];KRT17[NA];MYH13[NA];RPS3[NA];HIST1H2AG[NA];MYH3[NA];TUBB2A[NA];YWHAQ[NA];USP42[NA];PYGM[0.860];ACTN2[NA];ACTA2[NA];ITGB1BP2[1];OPTN[0.852];MED1[NA];MED7[NA];HNRNPM[NA];SNRPD1[NA];RBM39[NA];DDX50[NA];ZNF281[NA];MED18[NA];TMPO[NA];LUC7L3[NA];CCNC[NA];ACIN1[NA];BAG2[NA];POLR2H[NA];RUVBL1[NA];POLR2A[NA];UBR5[NA];SMC4[NA];RPAP2[NA];MED11[NA];MED20[NA];SMN1[NA];AHCTF1[NA];NOC4L[NA];MED27[NA];TCOF1[NA];MED4[NA];ANAPC1[NA];CHD9[NA];MED30[NA];DDX31[NA];DNALI1[NA];GCN1[NA];IPO4[NA];DDX52[NA];POLR2C[NA];PTBP1[NA];MED26[NA];MED16[NA];MED31[NA];ZCCHC10[NA];MED13[NA];POLR2B[NA];MED28[NA];DDX21[NA];PPIG[NA];AFF4[NA];MED13L[NA];POLR2J[NA];ZBTB9[NA];MED10[NA];MED29[NA];ELL2[NA];MED22[NA];EIF4A1[NA];RNPS1[NA];DNAJA1[NA];LMNA[NA];POLR2G[NA];DDB1[NA];MED14[NA];UBTF[NA];KPNA2[NA];MED24[NA];MED17[NA];RANGAP1[NA];PRPF4B[NA];DNM2[NA];ANAPC5[NA];MED23[NA];CDK8[NA];RSL1D1[NA];NONO[NA];SRSF3[NA];FBL[NA];PNN[NA];HCFC1[NA];ANAPC2[NA];MED15[NA];MED25[NA];NOP58[NA];HSPD1[NA];POLR2L[NA];POLR2I[NA];HSPA1L[NA];NOLC1[NA];DDX3X[NA];NUMA1[NA];MYBBP1A[NA];HSPA9[NA];TARDBP[NA];MED8[NA];NOL8[NA];NOP56[NA];U2SURP[NA];POLR2E[NA];CMSS1[NA];MED19[NA];POLR2F[NA];EEF1A1[NA];MED9[NA];CDC23[NA];MED21[NA];DDX20[NA];MED12[NA];HDAC6[NA];POLR2D[NA];CDK19[NA];DDX39B[NA];MED6[NA];SEC16A[NA];WDR26[NA];IARS[NA];TUBB6[NA];DDX17[NA];RPS5[NA];COPG2[NA];PABPC1L[NA];HUWE1[NA];RUVBL2[NA];RPS12[NA];GALK1[NA];GSN[NA];DARS[NA];PHGDH[NA];PPP6R1[NA];ACTN4[NA];RPS26[NA];YWHAZ[NA];CCT3[NA];ATP5F1B[NA];C20orf197[NA];TUBB3[NA];MYLK2[NA];RPLP0P6[NA];PABPC3[NA];PSMD1[NA];LANCL1[NA];PRDX3[NA];TBR1[NA];SEMG2[NA];SEMG1[NA];KRT13[NA];DYNC1H1[NA];RARB[NA];WRNIP1[NA];FLNA[NA];MYH9[NA];MCM2[NA];LRRFIP1[NA];PSMC2[NA];SFPQ[NA];RARA[NA];PSMD2[NA];MYH14[NA];NFKB2[NA];SEC22B[NA];FASN[NA];ESR1[NA];RPS4X[NA];EPRS[NA];KRT15[NA];RPS26P11[NA];HYOU1[NA];KRT79[NA];CCT7[NA];SLC25A6[NA];CFAP47[NA];KRT35[NA];KRT78[NA];PRKCSH[NA];PSMC1[NA];KRT4[NA];DCTN2[NA];MARS[NA];RPS14[NA];S100A8[NA];DNAJA1[NA];DDX5[NA];PDIA6[NA];IMPDH2[NA];PLOD3[NA];KATNAL2[NA];TUBAL3[NA];TUBA1B[NA];PSMC4[NA];RPLP0[NA];LARS[NA];CAD[NA];KRT37[NA];NONO[NA];LPCAT1[NA];DFFA[0.998];SF1[0.988];MYBPC1[1];FSTL1[0.180];UBA1[NA];COPG1[NA];EIF4A1[NA];CCDC87[NA];EEF1A1[NA];EIF1AD[NA];HNRNPH1[NA];SUN2[NA];LMNA[NA];HSPB2[0.927];FN1[0.999];FHL2[0.999];MYBPC3[1];MYLK3[NA];SGO2[NA];SETX[NA];OR3A2[NA];KCNMA1[NA];PDZRN4[NA];SACS[NA];NCOA3[NA];SH3BP5[NA];CABLES1[NA];CFB[NA];HPX[NA];ITGA2[NA];F2[NA];KRT5[NA];OBSL1[NA];CFH[NA];PPBP[NA];CRB1[NA];APOC1[NA];PDE4B[NA];KRT9[NA];CEP44[NA];CDCP1[NA];PHC3[NA];AP4E1[NA];ZNF232[NA];PRSS3[NA];APOC2[NA];APOA4[NA];QTRT2[NA];GJC2[NA];GABBR1[NA];AP1M1[NA];RANBP3[NA];TTR[NA];F7[NA];SLC1A5[NA];PALB2[NA];KRT1[NA];PLA2G4F[NA];APOC3[NA];TIAM1[NA];CACNA1I[NA];DERL1[NA];FGA[NA];CFD[NA];ZNF292[NA];APOA2[NA];OR2T6[NA];KRT10[NA];SPATA31A7[NA];APOA1[NA];RYR2[NA];CLCA2[NA];GSN[NA];SCAF1[NA];LAT[NA];KRT6B[NA];APOE[NA];SLC25A13[NA];JARID2[NA];DDB1[NA];PCED1B[NA];ITIH1[NA];AHSG[NA];KIAA1551[NA];TTPAL[NA];DMD[NA];KIAA0232[NA];CROT[NA];OR8D2[NA];AMPD3[NA];ITGB5[NA];KRT16[NA];PCDH1[NA];ST13[NA];MYL4[NA];SLC9A8[NA];SCN5A[NA];IGHG1[NA];TRAPPC11[NA];DGKG[NA];RLF[NA];FN1[NA];EXOC6[NA];TSC22D1[NA];PF4V1[NA];IGDCC4[NA];DICER1[NA];AGA[NA];SPAST[NA];HP[NA];LDB3[NA];CAMTA1[NA];GRAP2[NA];ATM[NA];SLA2[NA];NPHS1[NA];TLN2[NA];THRAP3[NA];CDC45[NA];SERPING1[NA];CTSL[NA];NLRC4[NA];KRT13[NA];CHKB[NA];FAM71E2[NA];ALB[NA];KRT14[NA];GFAP[NA];GCN1[NA];KRT6A[NA];SORBS3[NA];RANBP2[NA];CNOT1[NA];DCD[NA];CST3[NA];PEG3[NA];KLK3[NA];ADRA1B[NA];PLAG1[NA];ACTA1[1];CRYAB[0.755];ANKRD2[1];ANKRD23[0.999];ANK1[0.999];MYH9[0.996];NBR1[0.999];MYPN[0.999];YWHAQ[0.961];ARRB1[0.997];SP1[0.570];SQSTM1[0.984];CUL3[0.987];CUL4B[0.418];CUL2[0.11];CDK2[0.999];COPS5[0.938];NEDD8[0.975];SRSF2[0.957];SPEN[0.939];CPSF6[0.944];ALB[0.998];DYRK2[0.592];CEP57[0.997];TRIM55[0.979];RAPGEF2[0.037];MAPK1[0.994];CUL7[0.985];RNF2[0.998];NTRK1[0.759];ANXA7[0.928];EWSR1[0.620];GAN[0.984];MCM2[0.999];TSC22D2[0.008];CDH1[0.769];EGFR[0.893];TLE3[0.973];ADAM2[0.453];RBM3[0.926];UBE2A[0.999];HEY1[0.734];BRCA1[0.997];LMNA[0.999];KY[0.999];HLA-A[NA];B2M[NA];ACTA2[1]"
  haploinsufficiency: 0.40699
  hipred_score: 0.414402037858963
  hipred: N
  ghis: 0.504755501
  prec: 0.38418
  known_rec_info: "."
  rvis_evs: 2.17
  rvis_percentile_evs: 98.04
  lof_fdr_exac: 0.0000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000015993
  rvis_exac: 3.161811341
  rvis_percentile_exac: 99.50003012
  exac_pli: 0.0000000000000000000000000000000121111377105808
  exac_prec: 1
  exac_pnull: 0.000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000579491096992649
  exac_nontcga_pli: 0.0000000000000000000541132746419792
  exac_nontcga_prec: 1
  exac_nontcga_pnull: 0.000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000155476328983857
  exac_nonpsych_pli: 0.000000000000000000900554453364465
  exac_nonpsych_prec: 1
  exac_nonpsych_pnull: 0.0000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000488337429678558
  gnomad_pli: 0.000000000000000000000000000000000000000000000000000000037438
  gnomad_prec: 1
  gnomad_pnull: 0.00000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000013385
  exac_del_score: "."
  exac_dup_score: "."
  exac_cnv_score: "."
  exac_cnv_flag: "."
  gdi: 74772.86558
  gdi_phred: 42.91324
  gdp_all_disease_causing: High
  gdp_all_mendelian: High
  gdp_all_mendelian_ad: High
  gdp_mendelian_ar: High
  gdp_pid: High
  gdp_pid_ad: High
  gdp_pid_ar: High
  gdp_cancer: High
  gdb_cancer_rec: High
  gdp_cancer_dom: High
  loftool_score: 0.971
  sorva_lof_maf_5_het_or_hom: 0.017172523961661343
  sorva_lof_maf_5_hom_or_comphet: 0.0011980830670926517
  sorva_lof_maf_1_het_or_hom: 0.012779552715654952
  sorva_lof_maf_1_hom_or_comphet: 0.0011980830670926517
  sorva_lof_or_mis_maf_5_het_or_hom: 0.7827476038338658
  sorva_lof_or_mis_maf_5_hom_or_comphet: 0.5171725239616614
  sorva_lof_or_mis_maf_1_het_or_hom: 0.5499201277955271
  sorva_lof_or_mis_maf_1_hom_or_comphet: 0.2496006389776358
  essential_gene: E
  essential_gene_crispr: N
  essential_gene_crispr2: N
  essential_gene_gene_trap: N
  gene_indispensability_score: 0.94905308480722
  gene_indispensability_pred: E
  mgi_mouse_gene: Ttn
  mgi_mouse_phenotype: "growth/size/body region phenotype; muscle phenotype; craniofacial phenotype; cellular phenotype; homeostasis/metabolism phenotype; skeleton phenotype; embryo phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); vision/eye phenotype; immune system phenotype; "
  zfin_zebrafish_gene: ttn.1
  zfin_zebrafish_structure: skeletal muscle cell
  zfin_zebrafish_phenotype_quality: disorganized
  zfin_zebrafish_phenotype_tag: abnormal

