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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	22808
Gene name	Muscle RAS oncogene homolog
Gene symbol	MRAS
Synonyms (NCBI Gene)	M-RAsNS11R-RAS3RRAS3
Chromosome	3
Chromosome location	3q22.3
Summary	This gene encodes a member of the Ras family of small GTPases. These membrane-associated proteins function as signal transducers in multiple processes including cell growth and differentiation, and dysregulation of Ras signaling has been associated with m

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1560171992	G>C	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1576359216	G>T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs1576387876	C>T	Pathogenic, likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs1576387885	A>G	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant

296

Show/Hide all (296)

miRTarBase ID	miRNA	Experiments	Reference
MIRT039529	hsa-miR-652-3p	CLASH	23622248
MIRT473045	hsa-miR-2392	PAR-CLIP	23592263
MIRT473044	hsa-miR-3605-5p	PAR-CLIP	23592263
MIRT473043	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT473042	hsa-miR-4306	PAR-CLIP	23592263
MIRT473041	hsa-miR-4644	PAR-CLIP	23592263
MIRT473039	hsa-miR-5192	PAR-CLIP	23592263
MIRT473040	hsa-miR-6069	PAR-CLIP	23592263
MIRT473038	hsa-miR-1233-5p	PAR-CLIP	23592263
MIRT473037	hsa-miR-6778-5p	PAR-CLIP	23592263
MIRT443653	hsa-miR-548c-3p	PAR-CLIP	22100165
MIRT443652	hsa-miR-95-5p	PAR-CLIP	22100165
MIRT443651	hsa-miR-192-3p	PAR-CLIP	22100165
MIRT473044	hsa-miR-3605-5p	PAR-CLIP	27292025
MIRT473044	hsa-miR-3605-5p	PAR-CLIP	27292025
MIRT473044	hsa-miR-3605-5p	PAR-CLIP	27292025
MIRT473044	hsa-miR-3605-5p	PAR-CLIP	27292025
MIRT473044	hsa-miR-3605-5p	PAR-CLIP	27292025
MIRT473045	hsa-miR-2392	PAR-CLIP	23592263
MIRT473044	hsa-miR-3605-5p	PAR-CLIP	23592263
MIRT473043	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT473042	hsa-miR-4306	PAR-CLIP	23592263
MIRT473041	hsa-miR-4644	PAR-CLIP	23592263
MIRT473039	hsa-miR-5192	PAR-CLIP	23592263
MIRT473040	hsa-miR-6069	PAR-CLIP	23592263
MIRT473038	hsa-miR-1233-5p	PAR-CLIP	23592263
MIRT473037	hsa-miR-6778-5p	PAR-CLIP	23592263
MIRT443653	hsa-miR-548c-3p	PAR-CLIP	22100165
MIRT443652	hsa-miR-95-5p	PAR-CLIP	22100165
MIRT443651	hsa-miR-192-3p	PAR-CLIP	22100165
MIRT1157572	hsa-miR-1236	CLIP-seq
MIRT1157573	hsa-miR-148a	CLIP-seq
MIRT1157574	hsa-miR-148b	CLIP-seq
MIRT1157575	hsa-miR-152	CLIP-seq
MIRT1157576	hsa-miR-3183	CLIP-seq
MIRT1157577	hsa-miR-3667-3p	CLIP-seq
MIRT1157578	hsa-miR-3914	CLIP-seq
MIRT1157579	hsa-miR-4276	CLIP-seq
MIRT1157580	hsa-miR-451b	CLIP-seq
MIRT1157581	hsa-miR-4723-3p	CLIP-seq
MIRT1157582	hsa-miR-4768-5p	CLIP-seq
MIRT1157583	hsa-miR-4802-3p	CLIP-seq
MIRT1157584	hsa-miR-522	CLIP-seq
MIRT1157585	hsa-miR-570	CLIP-seq
MIRT1157586	hsa-miR-607	CLIP-seq
MIRT1157587	hsa-miR-651	CLIP-seq
MIRT1157588	hsa-miR-875-5p	CLIP-seq
MIRT1157589	hsa-miR-942	CLIP-seq
MIRT1157590	hsa-miR-1193	CLIP-seq
MIRT1157591	hsa-miR-1226	CLIP-seq
MIRT1157592	hsa-miR-1228	CLIP-seq
MIRT1157593	hsa-miR-15a	CLIP-seq
MIRT1157594	hsa-miR-15b	CLIP-seq
MIRT1157595	hsa-miR-16	CLIP-seq
MIRT1157596	hsa-miR-195	CLIP-seq
MIRT1157597	hsa-miR-208a	CLIP-seq
MIRT1157598	hsa-miR-208b	CLIP-seq
MIRT1157599	hsa-miR-3065-3p	CLIP-seq
MIRT1157600	hsa-miR-3153	CLIP-seq
MIRT1157601	hsa-miR-342-3p	CLIP-seq
MIRT1157602	hsa-miR-3622a-3p	CLIP-seq
MIRT1157603	hsa-miR-3622b-3p	CLIP-seq
MIRT1157604	hsa-miR-3691-5p	CLIP-seq
MIRT1157605	hsa-miR-424	CLIP-seq
MIRT1157606	hsa-miR-4289	CLIP-seq
MIRT1157607	hsa-miR-4432	CLIP-seq
MIRT1157608	hsa-miR-4447	CLIP-seq
MIRT1157609	hsa-miR-4472	CLIP-seq
MIRT1157610	hsa-miR-4475	CLIP-seq
MIRT1157611	hsa-miR-4530	CLIP-seq
MIRT1157612	hsa-miR-4752	CLIP-seq
MIRT1157613	hsa-miR-494	CLIP-seq
MIRT1157614	hsa-miR-497	CLIP-seq
MIRT1157615	hsa-miR-499-5p	CLIP-seq
MIRT1157616	hsa-miR-544b	CLIP-seq
MIRT1157617	hsa-miR-555	CLIP-seq
MIRT1157618	hsa-miR-634	CLIP-seq
MIRT1551375	hsa-miR-185	CLIP-seq
MIRT1551376	hsa-miR-2355-5p	CLIP-seq
MIRT2045086	hsa-miR-3115	CLIP-seq
MIRT2045087	hsa-miR-3180-5p	CLIP-seq
MIRT2045088	hsa-miR-3675-5p	CLIP-seq
MIRT2045089	hsa-miR-3692	CLIP-seq
MIRT2045090	hsa-miR-3941	CLIP-seq
MIRT2045091	hsa-miR-466	CLIP-seq
MIRT2045092	hsa-miR-4672	CLIP-seq
MIRT2045093	hsa-miR-499-3p	CLIP-seq
MIRT2045094	hsa-miR-499a-3p	CLIP-seq
MIRT2045095	hsa-miR-520a-5p	CLIP-seq
MIRT2045096	hsa-miR-525-5p	CLIP-seq
MIRT2045097	hsa-miR-593	CLIP-seq
MIRT2045089	hsa-miR-3692	CLIP-seq
MIRT1157593	hsa-miR-15a	CLIP-seq
MIRT1157594	hsa-miR-15b	CLIP-seq
MIRT1157595	hsa-miR-16	CLIP-seq
MIRT1157596	hsa-miR-195	CLIP-seq
MIRT1157605	hsa-miR-424	CLIP-seq
MIRT1157614	hsa-miR-497	CLIP-seq
MIRT1157591	hsa-miR-1226	CLIP-seq
MIRT1157592	hsa-miR-1228	CLIP-seq
MIRT1157593	hsa-miR-15a	CLIP-seq
MIRT1157594	hsa-miR-15b	CLIP-seq
MIRT1157595	hsa-miR-16	CLIP-seq
MIRT1157596	hsa-miR-195	CLIP-seq
MIRT1157599	hsa-miR-3065-3p	CLIP-seq
MIRT1157601	hsa-miR-342-3p	CLIP-seq
MIRT1157602	hsa-miR-3622a-3p	CLIP-seq
MIRT1157603	hsa-miR-3622b-3p	CLIP-seq
MIRT1157605	hsa-miR-424	CLIP-seq
MIRT1157608	hsa-miR-4447	CLIP-seq
MIRT1157609	hsa-miR-4472	CLIP-seq
MIRT1157611	hsa-miR-4530	CLIP-seq
MIRT1157614	hsa-miR-497	CLIP-seq
MIRT1157616	hsa-miR-544b	CLIP-seq
MIRT1157618	hsa-miR-634	CLIP-seq
MIRT1157591	hsa-miR-1226	CLIP-seq
MIRT1157592	hsa-miR-1228	CLIP-seq
MIRT2573045	hsa-miR-1253	CLIP-seq
MIRT2573046	hsa-miR-1283	CLIP-seq
MIRT2573047	hsa-miR-1299	CLIP-seq
MIRT1157573	hsa-miR-148a	CLIP-seq
MIRT1157574	hsa-miR-148b	CLIP-seq
MIRT1157575	hsa-miR-152	CLIP-seq
MIRT1157593	hsa-miR-15a	CLIP-seq
MIRT1157594	hsa-miR-15b	CLIP-seq
MIRT1157595	hsa-miR-16	CLIP-seq
MIRT2573048	hsa-miR-1908	CLIP-seq
MIRT2573049	hsa-miR-1913	CLIP-seq
MIRT1157596	hsa-miR-195	CLIP-seq
MIRT2573050	hsa-miR-298	CLIP-seq
MIRT1157599	hsa-miR-3065-3p	CLIP-seq
MIRT2573051	hsa-miR-3126-3p	CLIP-seq
MIRT2573052	hsa-miR-3150a-3p	CLIP-seq
MIRT2573053	hsa-miR-3150b-3p	CLIP-seq
MIRT2573054	hsa-miR-3175	CLIP-seq
MIRT2573055	hsa-miR-3176	CLIP-seq
MIRT2573056	hsa-miR-3178	CLIP-seq
MIRT2573057	hsa-miR-3180	CLIP-seq
MIRT2573058	hsa-miR-3180-3p	CLIP-seq
MIRT2573059	hsa-miR-3196	CLIP-seq
MIRT2573060	hsa-miR-320e	CLIP-seq
MIRT2573061	hsa-miR-324-3p	CLIP-seq
MIRT2573062	hsa-miR-3614-3p	CLIP-seq
MIRT2573063	hsa-miR-3616-3p	CLIP-seq
MIRT1157602	hsa-miR-3622a-3p	CLIP-seq
MIRT1157603	hsa-miR-3622b-3p	CLIP-seq
MIRT2573064	hsa-miR-3664-5p	CLIP-seq
MIRT1157577	hsa-miR-3667-3p	CLIP-seq
MIRT2573065	hsa-miR-3678-3p	CLIP-seq
MIRT2573066	hsa-miR-3682-3p	CLIP-seq
MIRT2573067	hsa-miR-3682-5p	CLIP-seq
MIRT2573068	hsa-miR-3922-3p	CLIP-seq
MIRT1157605	hsa-miR-424	CLIP-seq
MIRT2573069	hsa-miR-4264	CLIP-seq
MIRT2573070	hsa-miR-4270	CLIP-seq
MIRT2573071	hsa-miR-4297	CLIP-seq
MIRT2573072	hsa-miR-4300	CLIP-seq
MIRT2573073	hsa-miR-4313	CLIP-seq
MIRT2573074	hsa-miR-4330	CLIP-seq
MIRT2573075	hsa-miR-4426	CLIP-seq
MIRT2573076	hsa-miR-4434	CLIP-seq
MIRT2573077	hsa-miR-4441	CLIP-seq
MIRT1157608	hsa-miR-4447	CLIP-seq
MIRT1157609	hsa-miR-4472	CLIP-seq
MIRT2573078	hsa-miR-4486	CLIP-seq
MIRT2573079	hsa-miR-4487	CLIP-seq
MIRT2573080	hsa-miR-4488	CLIP-seq
MIRT2573081	hsa-miR-4516	CLIP-seq
MIRT1157611	hsa-miR-4530	CLIP-seq
MIRT2573082	hsa-miR-4534	CLIP-seq
MIRT2573083	hsa-miR-4647	CLIP-seq
MIRT2573084	hsa-miR-4662b	CLIP-seq
MIRT2573085	hsa-miR-4667-5p	CLIP-seq
MIRT2573086	hsa-miR-4690-3p	CLIP-seq
MIRT2573087	hsa-miR-4697-5p	CLIP-seq
MIRT2573088	hsa-miR-4700-5p	CLIP-seq
MIRT2573089	hsa-miR-4704-3p	CLIP-seq
MIRT2573090	hsa-miR-4712-3p	CLIP-seq
MIRT2573091	hsa-miR-4714-5p	CLIP-seq
MIRT2573092	hsa-miR-4721	CLIP-seq
MIRT2573093	hsa-miR-4725-5p	CLIP-seq
MIRT2573094	hsa-miR-4731-5p	CLIP-seq
MIRT2573095	hsa-miR-4777-3p	CLIP-seq
MIRT2573096	hsa-miR-4784	CLIP-seq
MIRT2573097	hsa-miR-4787-5p	CLIP-seq
MIRT2573098	hsa-miR-4792	CLIP-seq
MIRT2573099	hsa-miR-4802-5p	CLIP-seq
MIRT1157613	hsa-miR-494	CLIP-seq
MIRT1157614	hsa-miR-497	CLIP-seq
MIRT2573100	hsa-miR-504	CLIP-seq
MIRT2573101	hsa-miR-512-3p	CLIP-seq
MIRT2573102	hsa-miR-513a-5p	CLIP-seq
MIRT1157616	hsa-miR-544b	CLIP-seq
MIRT1157618	hsa-miR-634	CLIP-seq
MIRT2573103	hsa-miR-663	CLIP-seq
MIRT2573104	hsa-miR-671-5p	CLIP-seq
MIRT2573105	hsa-miR-765	CLIP-seq
MIRT2573106	hsa-miR-875-3p	CLIP-seq
MIRT2573107	hsa-miR-920	CLIP-seq
MIRT2573108	hsa-miR-939	CLIP-seq
MIRT1157591	hsa-miR-1226	CLIP-seq
MIRT1157592	hsa-miR-1228	CLIP-seq
MIRT2573045	hsa-miR-1253	CLIP-seq
MIRT2573046	hsa-miR-1283	CLIP-seq
MIRT2573047	hsa-miR-1299	CLIP-seq
MIRT2685285	hsa-miR-1301	CLIP-seq
MIRT1157573	hsa-miR-148a	CLIP-seq
MIRT1157574	hsa-miR-148b	CLIP-seq
MIRT2685286	hsa-miR-151-5p	CLIP-seq
MIRT2685287	hsa-miR-151b	CLIP-seq
MIRT1157575	hsa-miR-152	CLIP-seq
MIRT1157593	hsa-miR-15a	CLIP-seq
MIRT1157594	hsa-miR-15b	CLIP-seq
MIRT1157595	hsa-miR-16	CLIP-seq
MIRT2573048	hsa-miR-1908	CLIP-seq
MIRT2573049	hsa-miR-1913	CLIP-seq
MIRT1157596	hsa-miR-195	CLIP-seq
MIRT2573050	hsa-miR-298	CLIP-seq
MIRT1157599	hsa-miR-3065-3p	CLIP-seq
MIRT2573051	hsa-miR-3126-3p	CLIP-seq
MIRT2685288	hsa-miR-3131	CLIP-seq
MIRT2573052	hsa-miR-3150a-3p	CLIP-seq
MIRT2573053	hsa-miR-3150b-3p	CLIP-seq
MIRT2573054	hsa-miR-3175	CLIP-seq
MIRT2573055	hsa-miR-3176	CLIP-seq
MIRT2573056	hsa-miR-3178	CLIP-seq
MIRT2573057	hsa-miR-3180	CLIP-seq
MIRT2573058	hsa-miR-3180-3p	CLIP-seq
MIRT2573059	hsa-miR-3196	CLIP-seq
MIRT2573060	hsa-miR-320e	CLIP-seq
MIRT2573061	hsa-miR-324-3p	CLIP-seq
MIRT2573062	hsa-miR-3614-3p	CLIP-seq
MIRT2573063	hsa-miR-3616-3p	CLIP-seq
MIRT1157602	hsa-miR-3622a-3p	CLIP-seq
MIRT1157603	hsa-miR-3622b-3p	CLIP-seq
MIRT2573064	hsa-miR-3664-5p	CLIP-seq
MIRT1157577	hsa-miR-3667-3p	CLIP-seq
MIRT2685289	hsa-miR-3672	CLIP-seq
MIRT2045088	hsa-miR-3675-5p	CLIP-seq
MIRT2573065	hsa-miR-3678-3p	CLIP-seq
MIRT2573066	hsa-miR-3682-3p	CLIP-seq
MIRT2573067	hsa-miR-3682-5p	CLIP-seq
MIRT2573068	hsa-miR-3922-3p	CLIP-seq
MIRT1157605	hsa-miR-424	CLIP-seq
MIRT2573069	hsa-miR-4264	CLIP-seq
MIRT2573070	hsa-miR-4270	CLIP-seq
MIRT2573071	hsa-miR-4297	CLIP-seq
MIRT2573072	hsa-miR-4300	CLIP-seq
MIRT2573073	hsa-miR-4313	CLIP-seq
MIRT2573074	hsa-miR-4330	CLIP-seq
MIRT2573075	hsa-miR-4426	CLIP-seq
MIRT2573076	hsa-miR-4434	CLIP-seq
MIRT2573077	hsa-miR-4441	CLIP-seq
MIRT1157608	hsa-miR-4447	CLIP-seq
MIRT1157609	hsa-miR-4472	CLIP-seq
MIRT2573078	hsa-miR-4486	CLIP-seq
MIRT2573079	hsa-miR-4487	CLIP-seq
MIRT2573080	hsa-miR-4488	CLIP-seq
MIRT2573081	hsa-miR-4516	CLIP-seq
MIRT1157611	hsa-miR-4530	CLIP-seq
MIRT2573082	hsa-miR-4534	CLIP-seq
MIRT2573083	hsa-miR-4647	CLIP-seq
MIRT2685290	hsa-miR-4660	CLIP-seq
MIRT2573084	hsa-miR-4662b	CLIP-seq
MIRT2573085	hsa-miR-4667-5p	CLIP-seq
MIRT2573086	hsa-miR-4690-3p	CLIP-seq
MIRT2573087	hsa-miR-4697-5p	CLIP-seq
MIRT2573088	hsa-miR-4700-5p	CLIP-seq
MIRT2573089	hsa-miR-4704-3p	CLIP-seq
MIRT2573090	hsa-miR-4712-3p	CLIP-seq
MIRT2573091	hsa-miR-4714-5p	CLIP-seq
MIRT2573092	hsa-miR-4721	CLIP-seq
MIRT2573093	hsa-miR-4725-5p	CLIP-seq
MIRT2573094	hsa-miR-4731-5p	CLIP-seq
MIRT2573095	hsa-miR-4777-3p	CLIP-seq
MIRT2573096	hsa-miR-4784	CLIP-seq
MIRT2573097	hsa-miR-4787-5p	CLIP-seq
MIRT2573098	hsa-miR-4792	CLIP-seq
MIRT2573099	hsa-miR-4802-5p	CLIP-seq
MIRT2685291	hsa-miR-486-3p	CLIP-seq
MIRT1157613	hsa-miR-494	CLIP-seq
MIRT1157614	hsa-miR-497	CLIP-seq
MIRT2573100	hsa-miR-504	CLIP-seq
MIRT2685292	hsa-miR-5047	CLIP-seq
MIRT2573101	hsa-miR-512-3p	CLIP-seq
MIRT2573102	hsa-miR-513a-5p	CLIP-seq
MIRT1157616	hsa-miR-544b	CLIP-seq
MIRT2685293	hsa-miR-611	CLIP-seq
MIRT2685294	hsa-miR-626	CLIP-seq
MIRT1157618	hsa-miR-634	CLIP-seq
MIRT2573103	hsa-miR-663	CLIP-seq
MIRT2573104	hsa-miR-671-5p	CLIP-seq
MIRT2573105	hsa-miR-765	CLIP-seq
MIRT2573106	hsa-miR-875-3p	CLIP-seq
MIRT2573107	hsa-miR-920	CLIP-seq
MIRT2573108	hsa-miR-939	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000164	Component	Protein phosphatase type 1 complex	IDA	35768504, 35830882, 35831509, 36175670
GO:0000166	Function	Nucleotide binding	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IEA
GO:0003924	Function	GTPase activity	IMP	28289718
GO:0003924	Function	GTPase activity	TAS	10446149
GO:0003925	Function	G protein activity	IEA
GO:0005515	Function	Protein binding	IPI	25137548, 35768504, 35830882, 35831509, 36175670
GO:0005525	Function	GTP binding	IBA
GO:0005525	Function	GTP binding	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007165	Process	Signal transduction	IEA
GO:0007265	Process	Ras protein signal transduction	IEA
GO:0007265	Process	Ras protein signal transduction	IMP	28289718
GO:0007265	Process	Ras protein signal transduction	TAS	10446149
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019003	Function	GDP binding	IBA
GO:0030036	Process	Actin cytoskeleton organization	TAS
GO:0030742	Function	GTP-dependent protein binding	IPI	10934204
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA

MIM	HGNC	e!Ensembl
608435	7227	ENSG00000158186

O14807

Protein name

Ras-related protein M-Ras (EC 3.6.5.2) (Ras-related protein R-Ras3)

Protein function

Signal transducer in the Ras-MAPK signaling pathway that regulates cell proliferation and survival (PubMed:16630891, PubMed:28289718, PubMed:35768504, PubMed:35830882, PubMed:35831509, PubMed:36175670). Core component of the SHOC2-MRAS-PP1c (SMP

PDB

7SD0 , 7TVF , 7TXH , 7UPI , 9B4R , 9B4T , 9C1A , 9C1B

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00071	Ras	15 → 177	Ras family	Domain

Tissue specificity

TISSUE SPECIFICITY: Expression highly restricted to the brain and heart.

Sequence

MATSAVPSDNLPTYKLVVVGDGGVGKSALTIQFFQKIFVPDYDPTIEDSYLKHTEIDNQW
AILDVLDTAGQEEFSAMREQYMRTGDGFLIVYSVTDKASFEHVDRFHQLILRVKDRESFP
MILVANKVDLMHLRKITREQGKEMATKHNIPYIETSAKDPPLNVDKAFHDLVRVIRQQIP
EKSQKKKKKTKWRGDRATGTHKLQCVIL

Sequence length

208

Interactions

View interactions

	KEGG
	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway Phospholipase D signaling pathway Mitophagy - animal Autophagy - animal Cellular senescence Apelin signaling pathway C-type lectin receptor signaling pathway Regulation of actin cytoskeleton Proteoglycans in cancer

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Likely pathogenic	rs2055287972	RCV003991598	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan syndrome 11	Likely pathogenic	rs1576359216, rs1576387876, rs1576387885	RCV000787303 RCV000787304 RCV000787305	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RASopathy	Likely pathogenic	rs1560171992, rs1576359216, rs1576387876, rs1576387885	RCV000678907 RCV003155311 RCV004732489 RCV005252058	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (23)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAROTID ARTERY DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	CTD, GWAS catalog CTD, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ATHEROSCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY DISEASE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLEXIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MRAS-related disorder	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NOONAN SYNDROME	—	ClinGen, Disgenet, GWAS catalog, Orphanet ClinGen, Disgenet, GWAS catalog, Orphanet ClinGen, Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (91)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Abnormal dermatoglyphic pattern	Abnormal dermatoglyphic pattern	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	29264877		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arterial Diseases, Common Carotid	Moyamoya disease	CTD_human_DG	19198612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	32495899	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22121046	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	26325594	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	22121046, 27891760	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous syndrome	CLINGEN_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	28289718, 31638832	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	36734411, 37141804	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	23738802, 31770223	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	31770223		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	CTD_human_DG	19198612		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carotid Atherosclerosis	Carotid Atherosclerosis	CTD_human_DG	19198612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	24148564	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	31770223	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21811255		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	CTD_human_DG	21378990		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	BEFREE	19198612, 23738802, 25800439, 27263109, 28705542		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	CTD_human_DG	21378990		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	GWASDB_DG	23202125, 24262325		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	23738802, 28167353	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	28714975, 29212778		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1	Coronary artery disease	GWASDB_DG	23202125		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	32495899	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	19198612, 21347282, 21378990		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	GWASCAT_DG	19198612, 21378990, 24262325		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	CTD_human_DG	28869590		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Costello syndrome (disorder)	Costello syndrome	CLINGEN_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	22849862		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	22849862		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	28869590		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	22849862		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	23738802		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
External Carotid Artery Diseases	Carotid artery disease	CTD_human_DG	19198612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	32495899	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	31108500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	31108500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	31638832	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	36734411	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Internal Carotid Artery Diseases	Carotid artery disease	CTD_human_DG	19198612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	31770223		★★★★★ ★☆☆☆☆ Found in Text Mining only
LEOPARD Syndrome	LEOPARD Syndrome	CLINGEN_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphangioma, Cystic	Cystic hygroma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	27891760		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27891760, 29311130		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	12393502		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	22144573, 29264877		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	28018022		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	28018022	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24211266		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	34530870	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan Syndrome	CLINGEN_DG	23875798, 28289718		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Noonan Syndrome	Noonan Syndrome	ORPHANET_DG	28289718		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Noonan Syndrome	Noonan syndrome	Pubtator	28289718, 30348783, 31638832, 36734411, 37141804	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Noonan syndrome	Noonan Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Noonan Syndrome	Noonan Syndrome	BEFREE	29311130, 30348783, 31108500, 31173466, 31213532, 31638832		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Noonan syndrome-like disorder with loose anagen hair	Noonan-Like Syndrome With Loose Anagen Hair	CLINGEN_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Noonan-Like Syndrome With Loose Anagen Hair	Noonan-Like Syndrome With Loose Anagen Hair	CLINGEN_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	23738802	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta Type IV	Osteogenesis imperfecta	Pubtator	27891760	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis	Radioulnar Synostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia Spectrum and Other Psychotic Disorders	Schizophrenia	Pubtator	28737528	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	27891760		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27891760	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Temporomandibular Joint Disorders	Temporomandibular Joint Disorders	BEFREE	30431558		★★★★★ ★☆☆☆☆ Found in Text Mining only

MRAS (muscle RAS oncogene homolog)