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MRAS (muscle RAS oncogene homolog)

Gene

22808

Muscle RAS oncogene homolog

MRAS

M-RAs, NS11, R-RAS3, RRAS3

3q22.3

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

Show/Hide all(4)

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

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(13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003924	Function	GTPase activity	IBA	21873635
GO:0003924	Function	GTPase activity	IMP	28289718
GO:0005515	Function	Protein binding	IPI	25137548
GO:0005525	Function	GTP binding	IBA	21873635
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0007265	Process	Ras protein signal transduction	IBA	21873635
GO:0007265	Process	Ras protein signal transduction	IMP	28289718
GO:0007275	Process	Multicellular organism development	TAS	10446149
GO:0007517	Process	Muscle organ development	TAS
GO:0019003	Function	GDP binding	IBA	21873635
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

Protein

UniProt ID

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

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

Associated diseases

Show/Hide Causal Diseases (18)

Causal
Disease name	Disease term	dbSNP ID	References
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Cardiofaciocutaneous syndrome	Cardio-facio-cutaneous syndrome	rs121434497, rs121434498, rs121434499, rs267607230, rs121913530, rs104894359, rs104894360, rs104894366, rs104894361, rs104894362, rs121908594, rs121908595, rs121908596, rs121913348, rs180177034, rs121913357, rs180177035, rs121913355, rs180177036, rs180177039, rs180177040, rs180177041, rs387906660, rs387906661, rs387906800, rs387907205, rs387907206, rs397507465, rs397507466, rs397507473, rs397507474, rs397507475, rs397507476, rs397507479, rs397507480, rs397507483, rs113488022, rs397507484, rs397516792, rs397516793, rs730880517, rs397516790, rs727504317, rs727504382, rs397516791, rs397516892, rs397516893, rs180177038, rs397516894, rs397516895, rs397516904, rs121913341, rs180177042, rs727504370, rs797044593, rs794729219, rs869025339, rs869025606, rs869025608, rs876657651, rs886041310, rs727504819, rs121913349, rs121913337, rs121913338, rs1057519732, rs1057519733, rs1057519805, rs1057519806, rs1135401787, rs1586126581, rs1586140436, rs1586140512, rs1595860875, rs1599307313, rs2041142587
Coronary artery disease	CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1, Coronary Artery Disease	rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537	23202125, 21378990, 24262325, 28714975, 29212778, 23202125
Costello syndrome	Costello syndrome (disorder)	rs104894230, rs104894229, rs104894226, rs104894227, rs104894228, rs104894231, rs121917756, rs121917757, rs121917758, rs121917759, rs398122808, rs398122809, rs727503093, rs730880460, rs587777239, rs727504747, rs727503094, rs1554884966, rs1589792804
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	28869590
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hypogonadotropic hypogonadism	Hypogonadotropic hypogonadism	rs104894702, rs104893836, rs104893837, rs104893842, rs121909628, rs138249161, rs1601946139
Leopard syndrome	LEOPARD Syndrome	rs28933386, rs121918455, rs121918456, rs121918461, rs121918457, rs121918462, rs121918463, rs121918468, rs121918469, rs121918470, rs267606990, rs80338796, rs80338797, rs180177035, rs387906661, rs397507466, rs397507505, rs397507510, rs397507519, rs376607329, rs397507527, rs397507531, rs397507540, rs397507541, rs397507542, rs397507546, rs397507548, rs397507549, rs397507550, rs397516813, rs397516801, rs397516827, rs727503380, rs1575573330
Moyamoya disease	Arterial Diseases, Common Carotid	rs121434527, rs121434528, rs387906592, rs397514563, rs797045187, rs1555675538, rs1568149971, rs1599150380, rs2079443410	19198612
Narcolepsy	Narcolepsy	rs104894574, rs387906655	19629137
Noonan syndrome	Noonan Syndrome	rs121434312, rs267607048, rs121434499, rs113954997, rs104894359, rs104894360, rs104894364, rs104894365, rs104894366, rs104894367, rs193929331, rs28933406, rs104894230, rs104894226, rs104894228, rs137852812, rs137852813, rs137852814, rs267607079, rs267607080, rs121918453, rs121918454, rs28933386, rs121918455, rs121918456, rs121918460, rs121918461, rs121918457, rs121918458, rs121918459, rs121918462, rs121918463, rs121918465, rs121918466, rs121918468, rs121918469, rs121918470, rs80338836, rs267606990, rs121908595, rs267606704, rs121434595, rs11554290, rs121434596, rs267606921, rs267606920, rs80338796, rs121434594, rs80338799, rs80338797, rs180177034, rs121913369, rs180177035, rs121913355, rs180177037, rs180177040, rs387906660, rs606231228, rs397514553, rs121913237, rs397507466, rs397507467, rs121913348, rs397507473, rs397507475, rs180177039, rs397507477, rs397507480, rs121913375, rs397507484, rs727503110, rs730880471, rs121913250, rs397507501, rs397507503, rs397507504, rs397507505, rs397507506, rs397507507, rs397507509, rs397507510, rs397507511, rs397507512, rs397507513, rs397507514, rs397507517, rs397507518, rs397507519, rs397507520, rs397507523, rs397507524, rs397507525, rs397507526, rs376607329, rs397507527, rs397507529, rs397507530, rs397507531, rs397507537, rs397507539, rs397507540, rs397507541, rs397507543, rs397507544, rs397507545, rs397507546, rs397507547, rs397507548, rs397507549, rs397507550, rs397516826, rs727505017, rs3730271, rs397516827, rs397516828, rs397516830, rs397516813, rs730881002, rs730881003, rs397516815, rs730881054, rs397517164, rs397517172, rs397517147, rs397517148, rs727504295, rs397517149, rs730881045, rs397517153, rs397517154, rs727505381, rs397517156, rs574088829, rs397517159, rs397516792, rs397516791, rs397516801, rs397516802, rs397516803, rs397516809, rs397516810, rs397516825, rs397516829, rs397516891, rs397516903, rs397516904, rs397516905, rs397517041, rs397517042, rs397517076, rs397517077, rs397517146, rs397517150, rs397517163, rs397517174, rs397517180, rs397509343, rs672601334, rs672601335, rs587777179, rs587777180, rs483352822, rs587777613, rs202247812, rs121913233, rs727503384, rs121913341, rs180177036, rs180177042, rs121913357, rs727504426, rs727503380, rs727503381, rs727504662, rs727504370, rs727504170, rs727503996, rs730881014, rs267606706, rs121918464, rs869025197, rs869025196, rs869025195, rs869025194, rs869025193, rs869025192, rs869025191, rs869025189, rs869320686, rs797045165, rs797045166, rs869320687, rs797045167, rs864622410, rs869025340, rs869025573, rs869312687, rs876657651, rs886037952, rs886039607, rs886039463, rs777520196, rs886041414, rs189150283, rs868208063, rs1057519732, rs121913496, rs1057519963, rs781431741, rs1135401776, rs1555194026, rs1460026299, rs1553362937, rs1052382672, rs1553196539, rs149850248, rs1398859175, rs761685529, rs1034395178, rs1194536394, rs1555928249, rs750777752, rs1555391053, rs1553610155, rs145594158, rs770933647, rs777243508, rs1390048261, rs1223430276, rs1557962794, rs1249726034, rs150419186, rs782457908, rs1591495767, rs1591495776, rs1591495779, rs1576359216, rs1576387876, rs1576387885, rs727505093, rs1601718760, rs1592808357, rs1592798693, rs869025501, rs397507478, rs1572830693, rs1594982548, rs1458682620, rs1571999498, rs1572830219, rs1593351503, rs1592852902, rs1671004485, rs1673399238, rs397507536	28289718, 23875798
Noonan-like syndrome with loose anagen hair	Noonan-Like Syndrome With Loose Anagen Hair, Noonan syndrome-like disorder with loose anagen hair	rs267607048, rs730881020, rs886037952, rs886037954, rs886037955, rs1114167429, rs1553311527
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Radioulnar synostosis	Radioulnar Synostosis	rs1595756416, rs1595756703, rs1231501584, rs1595756962, rs1595757203, rs1595763070, rs1595766210
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Show/Hide Unknown Diseases (21)

Unknown
Disease name	Disease term	dbSNP ID	References
Abnormal dermatoglyphic pattern	Abnormal dermatoglyphic pattern
Camptodactyly of fingers	Clinodactyly of the 5th finger
Cardiovascular diseases	Cardiovascular Diseases		30595370
Carotid artery disease	Carotid Artery Diseases, External Carotid Artery Diseases, Internal Carotid Artery Diseases		19198612
Carotid atherosclerosis	Carotid Atherosclerosis		19198612
Congenital pectus carinatum	Congenital pectus carinatum
Congenital pectus excavatum	Congenital pectus excavatum
Coronary arteriosclerosis	Coronary Arteriosclerosis		21378990
Coronary heart disease	Coronary heart disease	rs9289231, rs281864746	24262325, 21347282, 19198612, 21378990, 28869590
Dwarfism	Dwarfism
Dysarthria	Dysarthria
High palate	Byzanthine arch palate
Cystic hygroma	Lymphangioma, Cystic
Melanocytic nevus	Melanocytic nevus
Micrognathism	Micrognathism
Neck webbing	Neck webbing
Posteriorly rotated ear	Posteriorly rotated ear
Proptosis	Exophthalmos
Ptosis	Blepharoptosis, Ptosis	rs139920573
Pulmonary stenosis	Pulmonary Stenosis
Strabismus	Strabismus

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