Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3265
Gene name	HRas proto-oncogene, GTPase
Gene symbol	HRAS
Synonyms (NCBI Gene)	C-BAS/HASC-H-RASC-HA-RAS1CTLOH-RASIDXHAMSVHRAS1RASH1p21ras
Chromosome	11
Chromosome location	11p15.5
Summary	This gene belongs to the Ras oncogene family, whose members are related to the transforming genes of mammalian sarcoma retroviruses. The products encoded by these genes function in signal transduction pathways. These proteins can bind GTP and GDP, and the

Show/Hide all (95)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004471	hsa-let-7a-5p	Luciferase reporter assay	18083101
MIRT005644	hsa-miR-143-3p	Luciferase reporter assayNorthern blotqRT-PCR	21276449
MIRT005880	hsa-miR-181a-5p	Luciferase reporter assayqRT-PCRWestern blot	21167132
MIRT005880	hsa-miR-181a-5p	Luciferase reporter assayqRT-PCRWestern blot	21167132
MIRT004471	hsa-let-7a-5p	ImmunoblotqRT-PCRWestern blot	21252116
MIRT006057	hsa-let-7b-5p	ImmunoblotqRT-PCRWestern blot	21252116
MIRT004471	hsa-let-7a-5p	ImmunoblotqRT-PCRWestern blot	21252116
MIRT006057	hsa-let-7b-5p	ImmunoblotqRT-PCRWestern blot	21252116
MIRT004471	hsa-let-7a-5p	ImmunoblotqRT-PCRWestern blot	21252116
MIRT006057	hsa-let-7b-5p	ImmunoblotqRT-PCRWestern blot	21252116
MIRT006548	hsa-miR-181d-5p	FACSImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot	22207524
MIRT006548	hsa-miR-181d-5p	FACSImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot	22207524
MIRT006548	hsa-miR-181d-5p	FACSImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot	22207524
MIRT006548	hsa-miR-181d-5p	FACSImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot	22207524
MIRT005880	hsa-miR-181a-5p	Reporter assay	21167132
MIRT040422	hsa-miR-615-3p	CLASH	23622248
MIRT438681	hsa-miR-663a	Luciferase reporter assayqRT-PCRWestern blot	23953123
MIRT438494	hsa-miR-139-5p	Luciferase reporter assay	24158791
MIRT004471	hsa-let-7a-5p	Luciferase reporter assay	24092860
MIRT438681	hsa-miR-663a	Luciferase reporter assayqRT-PCRWestern blot	23953123
MIRT438494	hsa-miR-139-5p	Luciferase reporter assay	24158791
MIRT004471	hsa-let-7a-5p	Luciferase reporter assay	24092860
MIRT005644	hsa-miR-143-3p	qRT-PCRIn situ hybridizationWestern blot	25477374
MIRT733425	hsa-miR-1184	Immunohistochemistry (IHC)Immunoprecipitaion (IP)Luciferase reporter assayqRT-PCR	34234808
MIRT733513	hsa-miR-1200	Microarray	34164896
MIRT1054553	hsa-miR-1207-5p	CLIP-seq
MIRT1054554	hsa-miR-1256	CLIP-seq
MIRT1054555	hsa-miR-1268	CLIP-seq
MIRT1054556	hsa-miR-1321	CLIP-seq
MIRT1054557	hsa-miR-1908	CLIP-seq
MIRT1054558	hsa-miR-1909	CLIP-seq
MIRT1054559	hsa-miR-1972	CLIP-seq
MIRT1054560	hsa-miR-3122	CLIP-seq
MIRT1054561	hsa-miR-3170	CLIP-seq
MIRT1054562	hsa-miR-3180	CLIP-seq
MIRT1054563	hsa-miR-3180-3p	CLIP-seq
MIRT1054564	hsa-miR-3196	CLIP-seq
MIRT1054565	hsa-miR-3913-5p	CLIP-seq
MIRT1054566	hsa-miR-4300	CLIP-seq
MIRT1054567	hsa-miR-4446-3p	CLIP-seq
MIRT1054568	hsa-miR-4492	CLIP-seq
MIRT1054569	hsa-miR-4498	CLIP-seq
MIRT1054570	hsa-miR-4505	CLIP-seq
MIRT1054571	hsa-miR-450b-3p	CLIP-seq
MIRT1054572	hsa-miR-4632	CLIP-seq
MIRT1054573	hsa-miR-4633-3p	CLIP-seq
MIRT1054574	hsa-miR-4664-3p	CLIP-seq
MIRT1054575	hsa-miR-4706	CLIP-seq
MIRT1054576	hsa-miR-4731-5p	CLIP-seq
MIRT1054577	hsa-miR-4739	CLIP-seq
MIRT1054578	hsa-miR-4749-5p	CLIP-seq
MIRT1054579	hsa-miR-4756-5p	CLIP-seq
MIRT1054580	hsa-miR-4763-3p	CLIP-seq
MIRT1054581	hsa-miR-4768-3p	CLIP-seq
MIRT1054582	hsa-miR-485-5p	CLIP-seq
MIRT1054583	hsa-miR-541	CLIP-seq
MIRT1054584	hsa-miR-585	CLIP-seq
MIRT1054585	hsa-miR-610	CLIP-seq
MIRT1054586	hsa-miR-622	CLIP-seq
MIRT1054587	hsa-miR-628-5p	CLIP-seq
MIRT1054588	hsa-miR-663	CLIP-seq
MIRT1054589	hsa-miR-665	CLIP-seq
MIRT1054590	hsa-miR-762	CLIP-seq
MIRT1054591	hsa-miR-769-3p	CLIP-seq
MIRT1054592	hsa-miR-920	CLIP-seq
MIRT1054593	hsa-miR-939	CLIP-seq
MIRT1054594	hsa-miR-3074-5p	CLIP-seq
MIRT1054595	hsa-miR-3130-3p	CLIP-seq
MIRT1054596	hsa-miR-324-5p	CLIP-seq
MIRT1054597	hsa-miR-3667-3p	CLIP-seq
MIRT1054598	hsa-miR-4324	CLIP-seq
MIRT1054599	hsa-miR-4691-5p	CLIP-seq
MIRT1054600	hsa-miR-4716-5p	CLIP-seq
MIRT1054601	hsa-miR-4793-3p	CLIP-seq
MIRT1054602	hsa-miR-544b	CLIP-seq
MIRT1054554	hsa-miR-1256	CLIP-seq
MIRT1054561	hsa-miR-3170	CLIP-seq
MIRT2244707	hsa-miR-3192	CLIP-seq
MIRT2244708	hsa-miR-3689a-3p	CLIP-seq
MIRT2244709	hsa-miR-3689c	CLIP-seq
MIRT1054566	hsa-miR-4300	CLIP-seq
MIRT2244710	hsa-miR-4308	CLIP-seq
MIRT1054567	hsa-miR-4446-3p	CLIP-seq
MIRT1054568	hsa-miR-4492	CLIP-seq
MIRT1054569	hsa-miR-4498	CLIP-seq
MIRT1054570	hsa-miR-4505	CLIP-seq
MIRT1054573	hsa-miR-4633-3p	CLIP-seq
MIRT1054574	hsa-miR-4664-3p	CLIP-seq
MIRT2244711	hsa-miR-4728-5p	CLIP-seq
MIRT1054576	hsa-miR-4731-5p	CLIP-seq
MIRT1054585	hsa-miR-610	CLIP-seq
MIRT2244712	hsa-miR-661	CLIP-seq
MIRT1054590	hsa-miR-762	CLIP-seq
MIRT1054592	hsa-miR-920	CLIP-seq
MIRT1054593	hsa-miR-939	CLIP-seq

Show/Hide all (5)

Transcription factor	Regulation	Reference
BTG2	Repression	20197462
MAZ	Activation	21931711
SP1	Activation	21931711
SP1	Unknown	3012774
TP53	Unknown	11127813

Show/Hide all (90)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0000165	Process	MAPK cascade	IEA
GO:0000165	Process	MAPK cascade	TAS
GO:0000166	Function	Nucleotide binding	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IDA	9178006
GO:0003924	Function	GTPase activity	IEA
GO:0003924	Function	GTPase activity	IMP	9230043
GO:0003924	Function	GTPase activity	TAS
GO:0003925	Function	G protein activity	IEA
GO:0005515	Function	Protein binding	IPI	2122974, 8332187, 8670882, 9144171, 9219684, 9447984, 9488663, 9690470, 10369681, 10608844, 11022048, 11335720, 11598133, 11857081, 11980706, 12620389, 12628188, 14500341, 14724641, 15507210, 15886098, 16316996, 16698549, 16810318, 17084389, 17540175, 18073111, 18273062, 18454158, 18
GO:0005525	Function	GTP binding	IBA
GO:0005525	Function	GTP binding	IDA	14500341, 17260967
GO:0005525	Function	GTP binding	IEA
GO:0005525	Function	GTP binding	IMP	9230043
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	10842192
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005794	Component	Golgi apparatus	IDA	14500341, 21968647
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	14500341, 17724343, 21968647
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9020890, 9880516
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	23027131
GO:0006897	Process	Endocytosis	IEA
GO:0006935	Process	Chemotaxis	TAS	10848592
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	NAS	8607982
GO:0007166	Process	Cell surface receptor signaling pathway	TAS	9020890
GO:0007264	Process	Small GTPase-mediated signal transduction	IEA
GO:0007265	Process	Ras protein signal transduction	IBA
GO:0007265	Process	Ras protein signal transduction	IDA	23027131
GO:0007265	Process	Ras protein signal transduction	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	9765203
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	9054499
GO:0008286	Process	Insulin receptor signaling pathway	IEA
GO:0009887	Process	Animal organ morphogenesis	TAS	10848592
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	IDA	23027131
GO:0014044	Process	Schwann cell development	IEA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019003	Function	GDP binding	IBA
GO:0019003	Function	GDP binding	IMP	8142349, 9230043
GO:0030335	Process	Positive regulation of cell migration	IDA	23027131
GO:0032729	Process	Positive regulation of type II interferon production	IEA
GO:0032956	Process	Regulation of actin cytoskeleton organization	IDA	23027131
GO:0036064	Component	Ciliary basal body	IDA
GO:0042088	Process	T-helper 1 type immune response	IEA
GO:0042127	Process	Regulation of cell population proliferation	IDA	9054499
GO:0042552	Process	Myelination	IEA
GO:0042832	Process	Defense response to protozoan	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	IDA	9765203, 23027131
GO:0043495	Function	Protein-membrane adaptor activity	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	22065586, 23027131
GO:0046330	Process	Positive regulation of JNK cascade	IDA	22065586
GO:0048144	Process	Fibroblast proliferation	IEA
GO:0048146	Process	Positive regulation of fibroblast proliferation	IEA
GO:0048169	Process	Regulation of long-term neuronal synaptic plasticity	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IMP	20154697
GO:0050852	Process	T cell receptor signaling pathway	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0051726	Process	Regulation of cell cycle	IDA	9054499
GO:0060612	Process	Adipose tissue development	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IDA	22065586
GO:0071480	Process	Cellular response to gamma radiation	IDA	16213212
GO:0090303	Process	Positive regulation of wound healing	IDA	23027131
GO:0090314	Process	Positive regulation of protein targeting to membrane	IMP	11022048
GO:0090398	Process	Cellular senescence	IBA
GO:0090398	Process	Cellular senescence	IDA	9054499
GO:0090398	Process	Cellular senescence	IEA
GO:0090402	Process	Oncogene-induced cell senescence	IEA
GO:0097193	Process	Intrinsic apoptotic signaling pathway	IEA
GO:0098696	Process	Regulation of neurotransmitter receptor localization to postsynaptic specialization membrane	IDA	12202034
GO:0098696	Process	Regulation of neurotransmitter receptor localization to postsynaptic specialization membrane	IMP	12202034
GO:0098978	Component	Glutamatergic synapse	IDA	12202034
GO:0098978	Component	Glutamatergic synapse	IMP	12202034
GO:0160185	Function	Phospholipase C activator activity	IDA	11022048
GO:1900029	Process	Positive regulation of ruffle assembly	IDA	23027131
GO:1905360	Component	GTPase complex	IPI	25695162
GO:2000630	Process	Positive regulation of miRNA metabolic process	IDA	23027131

MIM	HGNC	e!Ensembl
190020	5173	ENSG00000174775

P01112

Protein name

GTPase HRas (EC 3.6.5.2) (H-Ras-1) (Ha-Ras) (Transforming protein p21) (c-H-ras) (p21ras) [Cleaved into: GTPase HRas, N-terminally processed]

Protein function

Involved in the activation of Ras protein signal transduction (PubMed:22821884). Ras proteins bind GDP/GTP and possess intrinsic GTPase activity (PubMed:12740440, PubMed:14500341, PubMed:9020151). {ECO:0000269|PubMed:12740440, ECO:0000269|PubMed

PDB

121P , 1AA9 , 1AGP , 1BKD , 1CLU , 1CRP , 1CRQ , 1CRR , 1CTQ , 1GNP , 1GNQ , 1GNR , 1HE8 , 1IAQ , 1IOZ , 1JAH , 1JAI , 1K8R , 1LF0 , 1LF5 , 1LFD , 1NVU , 1NVV , 1NVW , 1NVX , 1P2S , 1P2T , 1P2U , 1P2V , 1PLJ , 1PLK , 1PLL , 1Q21 , 1QRA , 1RVD , 1WQ1 , 1XCM , 1XD2 , 1XJ0 , 1ZVQ , 1ZW6 , 221P , 2C5L , 2CE2 , 2CL0 , 2CL6 , 2CL7 , 2CLC , 2CLD , 2EVW , 2LCF

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00071	Ras	5 → 165	Ras family	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:14500341}.

Sequence

MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAG
QEEYSAMRDQYMRTGEGFLCVFAINNTKSFEDIHQYREQIKRVKDSDDVPMVLVGNKCDL
AARTVESRQAQDLARSYGIPYIETSAKTRQGVEDAFYTLVREIRQHKLRKLNPPDESGPG
CMSCKCVLS

Sequence length

189

Interactions

View interactions

	KEGG		Reactome
	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway ErbB signaling pathway Ras signaling pathway Rap1 signaling pathway Chemokine signaling pathway FoxO signaling pathway Sphingolipid signaling pathway Phospholipase D signaling pathway Mitophagy - animal Autophagy - animal Endocytosis mTOR signaling pathway PI3K-Akt signaling pathway Apoptosis Longevity regulating pathway Longevity regulating pathway - multiple species Cellular senescence Axon guidance VEGF signaling pathway Apelin signaling pathway Focal adhesion Gap junction Signaling pathways regulating pluripotency of stem cells C-type lectin receptor signaling pathway JAK-STAT signaling pathway Natural killer cell mediated cytotoxicity T cell receptor signaling pathway B cell receptor signaling pathway Fc epsilon RI signaling pathway Thermogenesis Long-term potentiation Neurotrophin signaling pathway Cholinergic synapse Serotonergic synapse Long-term depression Regulation of actin cytoskeleton Insulin signaling pathway GnRH signaling pathway Estrogen signaling pathway Melanogenesis Prolactin signaling pathway Thyroid hormone signaling pathway Oxytocin signaling pathway Relaxin signaling pathway GnRH secretion AGE-RAGE signaling pathway in diabetic complications Growth hormone synthesis, secretion and action Alzheimer disease Pathways of neurodegeneration - multiple diseases Alcoholism Salmonella infection Hepatitis C Hepatitis B Human cytomegalovirus infection Human papillomavirus infection Human T-cell leukemia virus 1 infection Kaposi sarcoma-associated herpesvirus infection Human immunodeficiency virus 1 infection Pathways in cancer Viral carcinogenesis Proteoglycans in cancer MicroRNAs in cancer Chemical carcinogenesis - receptor activation Chemical carcinogenesis - reactive oxygen species Colorectal cancer Renal cell carcinoma Endometrial cancer Glioma Prostate cancer Thyroid cancer Melanoma Bladder cancer Chronic myeloid leukemia Acute myeloid leukemia Non-small cell lung cancer Breast cancer Hepatocellular carcinoma Gastric cancer Central carbon metabolism in cancer Choline metabolism in cancer PD-L1 expression and PD-1 checkpoint pathway in cancer Lipid and atherosclerosis		Activation of RAS in B cells Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants SHC1 events in ERBB4 signaling Signaling by SCF-KIT p38MAPK events GRB2 events in EGFR signaling SHC1 events in EGFR signaling Downstream signal transduction GRB2 events in ERBB2 signaling Tie2 Signaling EGFR Transactivation by Gastrin DAP12 signaling FCERI mediated MAPK activation NCAM signaling for neurite out-growth EPHB-mediated forward signaling VEGFR2 mediated cell proliferation CD209 (DC-SIGN) signaling Constitutive Signaling by EGFRvIII SHC-mediated cascade:FGFR1 FRS-mediated FGFR1 signaling SHC-mediated cascade:FGFR2 FRS-mediated FGFR2 signaling SHC-mediated cascade:FGFR3 FRS-mediated FGFR3 signaling FRS-mediated FGFR4 signaling SHC-mediated cascade:FGFR4 Signaling by FGFR2 in disease Signaling by FGFR4 in disease Signaling by FGFR1 in disease Regulation of RAS by GAPs RAF activation RAF/MAP kinase cascade MAP2K and MAPK activation Negative regulation of MAPK pathway Signaling by moderate kinase activity BRAF mutants Signaling by high-kinase activity BRAF mutants Signaling by BRAF and RAF fusions RAS signaling downstream of NF1 loss-of-function variants Paradoxical activation of RAF signaling by kinase inactive BRAF PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases MET activates RAS signaling Signaling by FGFR3 fusions in cancer Signaling by FGFR3 point mutants in cancer FLT3 Signaling Constitutive Signaling by Overexpressed ERBB2 Estrogen-stimulated signaling through PRKCZ RAS GTPase cycle mutants Signaling downstream of RAS mutants Signaling by ERBB2 KD Mutants Signaling by ERBB2 ECD mutants Signaling by ERBB2 TMD/JMD mutants Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants Signaling by PDGFRA extracellular domain mutants

876

Show/Hide Causal Diseases (39)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Alveolar rhabdomyosarcoma	Likely pathogenic; Pathogenic	rs104894228	RCV006253693
Arteriovenous malformation	Pathogenic	rs1589792836	RCV000860022
Breast phyllodes tumor	Likely pathogenic; Pathogenic	rs104894228	RCV006253695
Cardiovascular phenotype	Pathogenic	rs104894230, rs104894229	RCV004018622 RCV002453256
Costello syndrome	Likely pathogenic; Pathogenic	rs587777239, rs764755556, rs2133982557, rs2133990973, rs727504747, rs727503094, rs104894226, rs104894230, rs104894229, rs104894227, rs104894228, rs104894231, rs121917756, rs121917757, rs121917758 View all (7 more)	RCV000106320 RCV001775533 RCV001789705 RCV001974222 RCV000156047 RCV000150836 RCV000590121 RCV000013432 RCV000013435 RCV000013437 RCV000013438 RCV000013439 RCV000013440 RCV000013441 RCV002272015 RCV000143898 RCV000013444 RCV000013445 RCV000013447 RCV002230756 RCV002524694 RCV005090865 RCV000022797 RCV000022798 RCV001781319 RCV000546898 RCV000150835 RCV001387769 RCV001732216 RCV000818197
cutaneous-skeletal hypophosphatemia syndrome	Likely pathogenic; Pathogenic	rs104894228	RCV001849283
Ectomesenchymoma	Likely pathogenic; Pathogenic	rs104894228	RCV006253696
Embryonal rhabdomyosarcoma	Likely pathogenic; Pathogenic	rs28933406, rs104894229, rs104894226, rs104894228	RCV006253535 RCV006253536 RCV006253537 RCV006253539 RCV006253694
Epidermal nevus	Pathogenic; Likely pathogenic	rs104894230, rs28933406, rs104894229, rs104894228	RCV000032850 RCV004562206 RCV003450636 RCV000032851 RCV000032852
EPIDERMAL NEVUS WITH UROTHELIAL CANCER, SOMATIC	Pathogenic	rs104894229	RCV000022796
Familial medullary thyroid carcinoma	Likely pathogenic; Pathogenic	rs28933406	RCV006253533
HRAS-related disorder	Pathogenic; Likely pathogenic	rs104894230, rs104894229, rs104894226, rs104894228, rs121917757, rs121917758, rs2539797550	RCV003415692 RCV003398496 RCV003390677 RCV003421918 RCV005867747 RCV004724738 RCV003400256 RCV004739310
KA-like vemurafenib-induced squamous lesions	Likely pathogenic; Pathogenic	rs104894226	RCV001849323
Large congenital melanocytic nevus	Likely pathogenic; Pathogenic	rs104894226	RCV004562310
Linear nevus sebaceous syndrome	Likely pathogenic; Pathogenic	rs121913233, rs104894226, rs104894228	RCV000148033 RCV004767097 RCV004767004 RCV000029213
Lip and oral cavity carcinoma	Likely pathogenic; Pathogenic	rs104894226, rs28933406, rs104894229, rs104894228	RCV001255688 RCV001255683 RCV001255689 RCV001255682
Malignant tumor of urinary bladder	Pathogenic; Likely pathogenic	rs104894230, rs104894226	RCV000013431 RCV005887484
Melanoma	Likely pathogenic; Pathogenic	rs104894226	RCV005887485
Myopathy, congenital, with excess of muscle spindles	Pathogenic; Likely pathogenic	rs104894230, rs104894229, rs121917756, rs121917757	RCV000013433 RCV000013436 RCV000013442 RCV000013443
Neoplasm	Likely pathogenic; Pathogenic	rs121913233, rs104894226	RCV006273567 RCV006273570
Neuroblastoma	Likely pathogenic; Pathogenic	rs121913233, rs28933406	RCV006253831 RCV006253534
Nevus sebaceous	Pathogenic; Likely pathogenic	rs104894229, rs104894228	RCV000029209 RCV000029211 RCV000029212
NEVUS SPILUS, SOMATIC	Likely pathogenic; Pathogenic	rs104894228	RCV000173005
Non-immune hydrops fetalis	Likely pathogenic; Pathogenic	rs104894226, rs104894228	RCV001376018 RCV001376004
Non-small cell lung carcinoma	Likely pathogenic	rs727503093	RCV000150834
Noonan syndrome	Pathogenic	rs104894228	RCV000678903
Noonan syndrome 1	Pathogenic	rs104894229	RCV003450635
Noonan syndrome 3	Likely pathogenic; Pathogenic	rs28933406, rs121913496	RCV000587258 RCV000589258
Noonan syndrome and Noonan-related syndrome	Likely pathogenic; Pathogenic	rs121913233, rs104894229, rs104894230, rs104894226, rs104894228	RCV001813393 RCV001813185 RCV001813186 RCV001813187 RCV001813188 RCV001813211
RASopathy	Pathogenic; Likely pathogenic	rs2133991112, rs104894229, rs104894226, rs104894227, rs104894228, rs121917758, rs727503093	RCV003238902 RCV000149828 RCV000781469 RCV005252033 RCV000149831 RCV005252034 RCV000149829 RCV004760350
Rhabdomyosarcoma	Likely pathogenic; Pathogenic	rs104894226, rs104894229, rs104894230, rs104894228	RCV006253847 RCV001257537 RCV001257536 RCV006253538
Salivary gland neoplasm	Likely pathogenic	rs121913233	RCV001844808
See cases	Pathogenic	rs104894229	RCV003156059
Spermatocytic seminoma	Likely pathogenic; Pathogenic	rs28933406	RCV000022795
SPITZ NEVUS, SOMATIC	Likely pathogenic; Pathogenic	rs104894228	RCV000173006
Thyroid cancer, nonmedullary, 2	Likely pathogenic; Pathogenic	rs28933406	RCV000013434
Vascular malformation	Likely pathogenic	rs2133990580, rs2539797407	RCV005863672 RCV004566498
Vascular Tumors Including Pyogenic Granuloma	Likely pathogenic	rs121913233, rs104894228	RCV000662268 RCV000662270
Wooly hair nevus	Pathogenic	rs104894229	RCV000487471

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs140060409	RCV005888883
Cervical cancer	Uncertain significance	rs1851251687	RCV005910982
Epidermolytic nevus	Uncertain significance	rs2539789151	RCV003458963
Hereditary cancer-predisposing syndrome	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs1291306227, rs758956556, rs727504614, rs142218590, rs730880464, rs730880456, rs200945755, rs776105083, rs766909143, rs138272051, rs111352454, rs140060409, rs397517144, rs111372582, rs397517142 View all (3 more)	RCV002259278 RCV002258705 RCV002257458 RCV002258816 RCV002257459 RCV002258815 RCV002257620 RCV002258867 RCV002257777 RCV002257370 RCV002257371 RCV002257372 RCV002258783 RCV002257382 RCV002257383 RCV002259010 RCV002258094 RCV002258190
Hypophosphatemic rickets	Uncertain significance	rs2133989896	RCV001843332
Intellectual disability	Uncertain significance; Conflicting classifications of pathogenicity	rs1171786943, rs759893630	RCV001260727 RCV005626154
Ovarian cancer	Conflicting classifications of pathogenicity	rs1851245429	RCV003153999
Parathyroid gland adenoma	Uncertain significance	rs2133989896	RCV001843332
Prostate cancer, hereditary, 1	Uncertain significance	rs2539798640, rs2539798688, rs2539798708, rs2539798280, rs2133990247, rs771774973	RCV002292419 RCV002292420 RCV002292421 RCV002292422 RCV002292423 RCV002292424
Pulmonic stenosis	Uncertain significance	rs587782949	RCV000143899
Sarcoma	Uncertain significance	rs727504926	RCV005888554
Soft tissue sarcoma	Uncertain significance	rs121913233	RCV006253971
Squamous cell lung carcinoma	Benign; Uncertain significance	rs12628, rs1851232069, rs749486358, rs1300614609, rs759743352	RCV001250943 RCV001250978 RCV001250979 RCV001250980 RCV001250981
Supravalvar aortic stenosis	Uncertain significance	rs587782949	RCV000143899
Uterine corpus endometrial carcinoma	Benign	rs140060409	RCV005888884

Show/Hide Text Mining Associations (245)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Achondroplasia	Associate	30355600
Adenocarcinoma	Associate	12673679
Adenocarcinoma	Stimulate	33549031
Adenocarcinoma Bronchiolo Alveolar	Associate	29846186
Adenocarcinoma Follicular	Associate	23150177, 24820091
Adenocarcinoma of Lung	Associate	26066407, 27151654, 36853323, 37000102
Adenoma	Associate	1452458, 36480093
Adenoma Oxyphilic	Associate	33045146
Adenomyoepithelioma	Associate	29739933, 31887226, 34496925
Alcoholism	Associate	28799801
Alveolar capillary dysplasia	Associate	22495892
Ameloblastoma	Associate	30216733, 34034548
Aneuploidy	Associate	32444772
Apical Hypertrophic Cardiomyopathy	Associate	21438134
Aplasia Cutis Congenita with Epibulbar Dermoids	Associate	30891959
Apparent mineralocorticoid excess	Associate	32355271
Arm Injuries	Associate	34389744
Arnold Chiari Malformation	Associate	32499600
Arteriovenous Malformations	Associate	31637524
Astrocytoma	Associate	27834733, 39459475
Autism Spectrum Disorder	Associate	36750796
Barrett Esophagus	Associate	20927195
Bile Duct Diseases	Associate	36480093
Blast Crisis	Associate	18534064
Bone Diseases	Associate	24006476
Bone Neoplasms	Associate	23199169
Brain Neoplasms	Associate	20604919
Branchioma	Associate	32026292
Breast Neoplasms	Associate	10393527, 14535590, 20169162, 21403836, 24000146, 25155634, 25449683, 2564734, 25927147, 27108388, 27165221, 27512948, 29739933, 33247707, 34779146, 39218304, 8529465 View all (2 more)
Carcinogenesis	Associate	1486864, 1679760, 17549669, 18077377, 20736745, 24000146, 24259709, 32516567
Carcinogenesis	Stimulate	22589270
Carcinoma	Associate	32197944
Carcinoma Adenoid Cystic	Associate	23398044
Carcinoma Basal Cell	Associate	2179417, 23435205
Carcinoma Ductal	Associate	10374765, 27108388, 30813596
Carcinoma Hepatocellular	Associate	11819786, 22190283, 30685691
Carcinoma Intraductal Noninfiltrating	Associate	31989433
Carcinoma Merkel Cell	Associate	26238782, 34593967, 36602798
Carcinoma Mucoepidermoid	Associate	10835516
Carcinoma Neuroendocrine	Associate	26558807
Carcinoma Non Small Cell Lung	Associate	33549031
Carcinoma Ovarian Epithelial	Associate	24407244
Carcinoma Squamous Cell	Associate	21411223, 22067401, 23457002, 25072932, 26479420, 29980281, 30446465, 36853323, 39694330
Carcinoma Transitional Cell	Associate	1619852
Carcinoma Verrucous	Associate	32792599, 37768009
Carcinosarcoma	Associate	6089200
Cardiofaciocutaneous syndrome	Associate	33482860
Cardiomyopathy Hypertrophic	Associate	32499600, 33568805
Cardiovascular Abnormalities	Associate	25914166
Cell Transformation Neoplastic	Stimulate	11884599, 8695359
Cell Transformation Neoplastic	Associate	20037158
Choroidal Effusions	Associate	33568805
Classical Lissencephalies and Subcortical Band Heterotopias	Associate	27108388
Cognition Disorders	Associate	19371735, 22488832
Colonic Neoplasms	Associate	22618666, 2876925, 8306368
Colonic Neoplasms	Stimulate	28259994
Colonic Neoplasms	Inhibit	3885218
Colorectal Neoplasms	Associate	10732765, 11055588, 11471902, 17460778, 21152119, 28259994, 28593995, 28675510, 28678173, 30637914, 31427573, 31782259, 35648774, 36982429, 3885218, 8306368 View all (1 more)
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	17412879, 19855393, 24169525, 24259709
Congenital Hyperinsulinism	Associate	26572961
Congenital Hypothyroidism	Associate	40104288
Costello Syndrome	Associate	16443854, 17412879, 17483702, 17517660, 19206176, 19371735, 19382114, 19919001, 21438134, 21834037, 21880723, 22098123, 22488832, 22495892, 23918324 View all (22 more)
Davenport Donlan syndrome	Associate	28371260
Death	Stimulate	7599040
Developmental Disabilities	Associate	19371735, 21438134, 22495892, 35764878
Diabetes Mellitus Type 1	Inhibit	10433077
Diabetes Mellitus Type 1	Associate	10433077
Disease	Associate	40104288
Drug Related Side Effects and Adverse Reactions	Associate	28031235
Dwarfism Pituitary	Associate	34589056
Ectodermal Dysplasia	Associate	37194190
Edema	Associate	33568805
Endometrial Neoplasms	Associate	16681770
Epidermal Cyst	Associate	23337891
Epidermal Nevus	Associate	28434888, 30791119
Epstein Barr Virus Infections	Associate	33297669
Essential Hypertension	Associate	32026292
Failure to Thrive	Associate	21438134, 25914166
Fetal akinesia syndrome X linked	Associate	32779773
Fetal Diseases	Associate	19382114
Fibrosarcoma	Associate	32499600
Florid cemento osseous dysplasia	Associate	36707318
Ganglion Cysts	Associate	8774129
Gastro enteropancreatic neuroendocrine tumor	Associate	36743926
Gastrointestinal Neoplasms	Associate	18783589
Gastrointestinal Stromal Tumors	Associate	27469332
Giant Cell Tumor of Bone	Associate	7912645
Gingival Diseases	Associate	31743516
Gingival Overgrowth	Associate	23803025
Glioblastoma	Associate	17210246, 21649900, 24997477, 32296843
Glioblastoma	Inhibit	25277177
Glioma	Associate	27834733
Growth Disorders	Associate	17517660, 21438134
Hair Diseases	Associate	28371260
Hamartoma Syndrome Multiple	Associate	29684080
Head and Neck Neoplasms	Associate	1698442, 23398044, 40243851
Hemangiosarcoma	Associate	26440310, 31805975, 33016928
Hereditary Breast and Ovarian Cancer Syndrome	Associate	14535590, 29739933, 30394935, 31887226, 34496925
Histiocytoma Malignant Fibrous	Associate	10474683, 8774129
Hydatidiform Mole	Associate	28713902
Hydrops Fetalis	Associate	35397126
Hypophosphatemia	Associate	24006476
Hypoxia	Stimulate	26181205
Inflammation	Associate	30402038
Influenza Human	Associate	29059211
Intellectual Disability	Associate	19371735, 19382114, 25914166
Intestinal Neoplasms	Associate	12673679
Intracranial Arteriovenous Malformations	Associate	31637524
Keratoacanthoma	Associate	26319365
Keratosis	Associate	26319365
Keratosis Seborrheic	Associate	21078999
Kidney Neoplasms	Associate	21808062, 21886838
Laryngeal Neoplasms	Associate	8198992, 9119742
Learning Disabilities	Associate	25914166
LEOPARD Syndrome	Associate	17517660
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	18534064, 8195713
Leukemia Myeloid Acute	Associate	15951308, 18931459, 3122217
Leukemia T Cell	Associate	2664717
Leukodystrophy Metachromatic	Associate	37488489
Liver Neoplasms	Associate	3904802
Long QT Syndrome	Associate	1746560, 7977384
Lung Neoplasms	Associate	1362538, 1486864, 34338241, 36853323, 8263009
Lymphatic Metastasis	Associate	1698442
Lymphoma	Associate	12393503, 3554234
Lymphoma Mantle Cell	Associate	29973234
Lymphoma Non Hodgkin	Associate	34597458
Malformations of Cortical Development	Associate	19371735
Malocclusion	Associate	21438134
Megalencephaly	Associate	21438134
Melanocytic nevus syndrome congenital	Associate	34076666
Melanoma	Associate	10980135, 15503312, 22618666, 2664010, 31900433, 31980996, 3329095, 33419898, 8600463, 8601728
Melanoma	Stimulate	6087347
Melanoma Cutaneous Malignant	Associate	22618666, 23174022, 29349077
Melorheostosis	Associate	28434888
Mesothelioma Malignant	Associate	25514803
Metaplasia	Associate	28731047
Microphthalmia Syndromic 6	Associate	30891959
Mitral Valve Prolapse	Associate	22488832
Mixed Tumor Malignant	Associate	34847284
Mouth Diseases	Associate	32792599
Mouth Neoplasms	Associate	1679760, 17767136, 2021541, 23803025, 25631445, 29037125
Multiple Myeloma	Associate	16156861, 26433312, 27863261, 3042048, 34476507, 36606310, 8978300
Muscular Diseases	Associate	17412879
Musculoskeletal Abnormalities	Associate	19382114
Myoepithelioma	Associate	24277618
Myopathy Congenital With Excess Of Muscle Spindles	Associate	17412879
Nasopharyngeal Carcinoma	Associate	29973197
Necrosis	Associate	31887226
Neoplasm Invasiveness	Associate	27512948
Neoplasm Metastasis	Associate	11819786, 19438459, 20604919, 36800542, 36996116, 38036953, 40243851, 8611405
Neoplasm Metastasis	Inhibit	3885218
Neoplasm Recurrence Local	Associate	33527763
Neoplasms	Associate	11303621, 11471902, 11583982, 12204060, 12839581, 16443854, 1679760, 17517660, 17949898, 18077377, 19008219, 19438459, 19855428, 20067638, 2021541 View all (108 more)
Neoplasms	Inhibit	17135242, 35775110
Neoplasms	Stimulate	27863786, 3885218
Neoplasms Glandular and Epithelial	Associate	24277618, 26053092, 29135520, 33481388, 36480093
Neoplasms Squamous Cell	Associate	31775759
Neoplasms Unknown Primary	Associate	29973234
Neuroblastoma	Associate	15802787, 17215959, 18057715
Neuroectodermal Tumors	Associate	3554234
Neurofibrosarcoma	Associate	25946318, 31127187
Neurologic Manifestations	Associate	25914166
Neuromuscular Diseases	Associate	17412879
Nevus	Associate	22499344, 23599145, 23856930, 30864170
Nevus Blue	Associate	23599145
Nevus Epithelioid and Spindle Cell	Associate	10980135, 23599145, 25602801, 33428338, 34076666, 35319526, 37856952
Nevus Pigmented	Associate	23337891, 2664010
Nevus Sebaceous of Jadassohn	Associate	34649968, 34972725, 35853659
Non Muscle Invasive Bladder Neoplasms	Associate	21072204
Noonan like syndrome	Associate	28371260, 37194190
Noonan Syndrome	Associate	17483702
Obesity	Associate	10433077
Obesity	Stimulate	30402038
Oncocytoma renal	Associate	27175596
Oral Submucous Fibrosis	Associate	38050610
Osteoarthritis	Inhibit	32062610
Osteogenesis imperfecta Levin type	Associate	24006476
Ovarian Neoplasms	Associate	15940260, 2113532
Papilloma	Associate	30838648, 37704624
Papilloma Inverted	Associate	30838648, 31119740
Papillomavirus Infections	Associate	31960612
Paraganglioma	Associate	24466223, 26773571, 28122379
Paraneoplastic Syndromes Ocular	Associate	34075771
Parkinson Disease	Associate	27628320
Phacomatosis pigmentokeratotica	Associate	23337891, 23856930, 24628623
Pheochromocytoma	Associate	1452458, 24466223, 24684458, 26773571, 29159601, 37062455
Pigmentation Disorders	Associate	30864170
Pituitary Neoplasms	Associate	31996211
Plasmablastic Lymphoma	Associate	33297669
Polyhydramnios	Associate	21438134
Polyps	Stimulate	28259994
Poroma	Associate	29443014
Prediabetic State	Associate	10433077
Primary Ovarian Insufficiency	Associate	8878453
Prostatic Intraepithelial Neoplasia	Associate	32740981
Prostatic Neoplasms	Associate	26181205, 32859160, 37399401, 7928631
Prostatic Neoplasms Castration Resistant	Associate	31081050
Prostatic Neoplasms Castration Resistant	Stimulate	37095108
Prostatitis	Associate	18350153, 7573356
Pulmonary Valve Stenosis	Associate	25914166
Radiation Injuries	Associate	31805975
Respiratory Distress Syndrome	Associate	27102959
Respiratory Insufficiency	Associate	27102959
Respiratory Tract Diseases	Associate	22495892
Respiratory Tract Infections	Associate	26278805
Rhabdomyosarcoma	Associate	24641407, 33372952, 35459782, 39368853
Rhabdomyosarcoma Alveolar	Associate	24641407
Rhabdomyosarcoma Embryonal	Associate	26872011, 27589201, 34755412, 39379998
Salivary Duct Calculi	Associate	26053092, 27103403, 29443014, 30946933, 31609094, 32457410, 32929114, 36480093
Salivary Gland Neoplasms	Associate	10835516, 26247885, 32557577, 40243851
Scleroderma Systemic	Associate	28434888
Sebaceous gland hyperplasia familial presenile	Associate	26804118
Sebaceous Gland Neoplasms	Associate	26804118
Skin Diseases	Associate	34649968
Squamous Cell Carcinoma of Head and Neck	Associate	21798893, 24224046, 24292195, 24341335, 25275298, 25980437, 26572163, 26683928, 27590518, 27628320, 28435450, 29053175, 29240723, 31422218, 31541927 View all (15 more)
Stomach Neoplasms	Associate	18783589, 21152119, 37794689
Stroke	Associate	36065636
Subcutaneous Emphysema	Associate	31637524
Substance Related Disorders	Stimulate	3513171
Sweat Gland Neoplasms	Associate	24628623
Tachycardia Supraventricular	Associate	19382114, 21438134, 25914166, 38415356
Testicular Germ Cell Tumor	Associate	19855393, 24259709
Testicular Neoplasms	Associate	19855393
Thrombocythemia Essential	Associate	36606310
Thymic epithelial tumor	Associate	29438696
Thymoma	Associate	19861435, 27844328, 32026292
Thyroid cancer medullary	Associate	22865907, 23264394, 2576939, 32421817
Thyroid Cancer Papillary	Associate	27236916, 29214440, 30361901, 33390813, 37175943, 37704624
Thyroid Carcinoma Anaplastic	Associate	28489587
Thyroid Neoplasms	Associate	18783589, 23150177, 26259532, 26695504, 30361901, 32421817, 32812852, 37175943, 38277563, 40104288
Thyroid Nodule	Associate	26356635, 26621130, 27863786, 33860907, 38407967
Thyroiditis	Associate	22732473
Triple Negative Breast Neoplasms	Associate	25155634, 28075450
Tubular Sweat Gland Adenomas	Associate	30398985, 31473937, 39377508
Ulnar Nerve Compression Syndromes	Associate	21438134
Urethral Neoplasms	Associate	25097040
Urinary Bladder Diseases	Associate	6577419
Urinary Bladder Neoplasms	Associate	10995035, 15611796, 1619852, 1673788, 19506904, 20473523, 21072204, 21931711, 22452803, 22820081, 24169525, 24357085, 24459064, 2643097, 26674223 View all (5 more)
Uterine Cervical Neoplasms	Associate	12366664, 22237208, 24884338, 25669975
Vascular Diseases	Associate	25133308, 28371260
Vasculitis Leukocytoclastic Cutaneous	Associate	24662767
Vasculopathy Retinal With Cerebral Leukodystrophy	Associate	37488489
Ventricular Remodeling	Associate	25914166
Vulvar Diseases	Associate	32427961
Woolly hair congenital	Associate	30864170

HRAS (HRas proto-oncogene, GTPase)