TRIO (trio Rho guanine nucleotide exchange factor)

Gene

• Entrez ID: 7204
• Gene name: Trio Rho guanine nucleotide exchange factor
• Gene symbol: TRIO
• Synonyms: ARHGEF23, MEBAS, MRD44, MRD63, tgat
• Chromosome: 5
• Chromosome location: 5p15.2
• Summary: This gene encodes a large protein that functions as a GDP to GTP exchange factor. This protein promotes the reorganization of the actin cytoskeleton, thereby playing a role in cell migration and growth. Alternative splicing results in multiple transcript

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs879255622	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs879255623	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs879255624	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, stop gained
rs879255625	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs879255626	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs879255627	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs879255628	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs905287265	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, upstream transcript variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1057516029	G>T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1435239428	C>A,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, stop gained
rs1436796227	->C,CC	Likely-pathogenic	Coding sequence variant, intron variant, genic downstream transcript variant, frameshift variant
rs1554054155	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554062562	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554062588	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554064737	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554064863	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1554065893	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554068529	->A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554070777	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1554086647	A>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs1554091578	AT>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs1561518112	G>A	Pathogenic	Downstream transcript variant, stop gained, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1579448914	GT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1579522661	G>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1579564431	A>G	Likely-pathogenic	Splice acceptor variant
rs1579803563	GC>CGAGGGG	Likely-pathogenic	Intron variant, genic downstream transcript variant, frameshift variant, coding sequence variant
rs1579804792	->CCGGG	Likely-pathogenic	Intron variant, genic downstream transcript variant, frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020707	hsa-miR-155-5p	Proteomics	18668040
MIRT028297	hsa-miR-32-5p	Sequencing	20371350
MIRT028514	hsa-miR-30a-5p	Proteomics	18668040
MIRT052599	hsa-let-7a-5p	CLASH	23622248
MIRT038821	hsa-miR-93-3p	CLASH	23622248
MIRT038821	hsa-miR-93-3p	CLASH	23622248
MIRT095655	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT095658	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT028297	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT1456202	hsa-miR-101	CLIP-seq
MIRT1456203	hsa-miR-1206	CLIP-seq
MIRT1456204	hsa-miR-1207-5p	CLIP-seq
MIRT1456205	hsa-miR-125a-3p	CLIP-seq
MIRT1456206	hsa-miR-1273g	CLIP-seq
MIRT1456207	hsa-miR-1299	CLIP-seq
MIRT1456208	hsa-miR-132	CLIP-seq
MIRT1456209	hsa-miR-139-3p	CLIP-seq
MIRT1456210	hsa-miR-140-5p	CLIP-seq
MIRT1456211	hsa-miR-144	CLIP-seq
MIRT1456212	hsa-miR-153	CLIP-seq
MIRT1456213	hsa-miR-190	CLIP-seq
MIRT1456214	hsa-miR-190b	CLIP-seq
MIRT1456215	hsa-miR-212	CLIP-seq
MIRT1456216	hsa-miR-2355-5p	CLIP-seq
MIRT1456217	hsa-miR-25	CLIP-seq
MIRT1456218	hsa-miR-300	CLIP-seq
MIRT1456219	hsa-miR-3121-3p	CLIP-seq
MIRT1456220	hsa-miR-3123	CLIP-seq
MIRT1456221	hsa-miR-3133	CLIP-seq
MIRT1456222	hsa-miR-3163	CLIP-seq
MIRT1456223	hsa-miR-32	CLIP-seq
MIRT1456224	hsa-miR-3591-3p	CLIP-seq
MIRT1456225	hsa-miR-3613-3p	CLIP-seq
MIRT1456226	hsa-miR-363	CLIP-seq
MIRT1456227	hsa-miR-3662	CLIP-seq
MIRT1456228	hsa-miR-3665	CLIP-seq
MIRT1456229	hsa-miR-367	CLIP-seq
MIRT1456230	hsa-miR-3677-5p	CLIP-seq
MIRT1456231	hsa-miR-3714	CLIP-seq
MIRT1456232	hsa-miR-375	CLIP-seq
MIRT1456233	hsa-miR-381	CLIP-seq
MIRT1456234	hsa-miR-383	CLIP-seq
MIRT1456235	hsa-miR-3942-3p	CLIP-seq
MIRT1456236	hsa-miR-4257	CLIP-seq
MIRT1456237	hsa-miR-4260	CLIP-seq
MIRT1456238	hsa-miR-4307	CLIP-seq
MIRT1456239	hsa-miR-4311	CLIP-seq
MIRT1456240	hsa-miR-448	CLIP-seq
MIRT1456241	hsa-miR-4511	CLIP-seq
MIRT1456242	hsa-miR-4635	CLIP-seq
MIRT1456243	hsa-miR-4666-3p	CLIP-seq
MIRT1456244	hsa-miR-4716-3p	CLIP-seq
MIRT1456245	hsa-miR-4723-5p	CLIP-seq
MIRT1456246	hsa-miR-4728-5p	CLIP-seq
MIRT1456247	hsa-miR-4736	CLIP-seq
MIRT1456248	hsa-miR-4753-5p	CLIP-seq
MIRT1456249	hsa-miR-4763-3p	CLIP-seq
MIRT1456250	hsa-miR-4772-5p	CLIP-seq
MIRT1456251	hsa-miR-4782-5p	CLIP-seq
MIRT1456252	hsa-miR-486-3p	CLIP-seq
MIRT1456253	hsa-miR-502-5p	CLIP-seq
MIRT1456254	hsa-miR-509-3p	CLIP-seq
MIRT1456255	hsa-miR-516b	CLIP-seq
MIRT1456256	hsa-miR-539	CLIP-seq
MIRT1456257	hsa-miR-548aa	CLIP-seq
MIRT1456258	hsa-miR-548ac	CLIP-seq
MIRT1456259	hsa-miR-548d-3p	CLIP-seq
MIRT1456260	hsa-miR-548z	CLIP-seq
MIRT1456261	hsa-miR-563	CLIP-seq
MIRT1456262	hsa-miR-570	CLIP-seq
MIRT1456263	hsa-miR-582-5p	CLIP-seq
MIRT1456264	hsa-miR-873	CLIP-seq
MIRT1456265	hsa-miR-92a	CLIP-seq
MIRT1456266	hsa-miR-92b	CLIP-seq
MIRT1456267	hsa-miR-935	CLIP-seq
MIRT1456268	hsa-miR-940	CLIP-seq
MIRT1920999	hsa-miR-548ad	CLIP-seq
MIRT1921000	hsa-miR-548p	CLIP-seq
MIRT1456204	hsa-miR-1207-5p	CLIP-seq
MIRT1456205	hsa-miR-125a-3p	CLIP-seq
MIRT1456206	hsa-miR-1273g	CLIP-seq
MIRT2136773	hsa-miR-1286	CLIP-seq
MIRT2136774	hsa-miR-1293	CLIP-seq
MIRT1456210	hsa-miR-140-5p	CLIP-seq
MIRT1456211	hsa-miR-144	CLIP-seq
MIRT1456219	hsa-miR-3121-3p	CLIP-seq
MIRT2136775	hsa-miR-3132	CLIP-seq
MIRT2136776	hsa-miR-3151	CLIP-seq
MIRT2136777	hsa-miR-3177-5p	CLIP-seq
MIRT2136778	hsa-miR-3184	CLIP-seq
MIRT2136779	hsa-miR-34a	CLIP-seq
MIRT2136780	hsa-miR-34c-5p	CLIP-seq
MIRT1456224	hsa-miR-3591-3p	CLIP-seq
MIRT1456227	hsa-miR-3662	CLIP-seq
MIRT1456228	hsa-miR-3665	CLIP-seq
MIRT2136781	hsa-miR-423-5p	CLIP-seq
MIRT1456236	hsa-miR-4257	CLIP-seq
MIRT1456237	hsa-miR-4260	CLIP-seq
MIRT1456239	hsa-miR-4311	CLIP-seq
MIRT2136782	hsa-miR-4447	CLIP-seq
MIRT2136783	hsa-miR-4472	CLIP-seq
MIRT2136784	hsa-miR-4483	CLIP-seq
MIRT2136785	hsa-miR-449a	CLIP-seq
MIRT2136786	hsa-miR-449b	CLIP-seq
MIRT2136787	hsa-miR-4651	CLIP-seq
MIRT2136788	hsa-miR-4688	CLIP-seq
MIRT1456244	hsa-miR-4716-3p	CLIP-seq
MIRT1456245	hsa-miR-4723-5p	CLIP-seq
MIRT1456246	hsa-miR-4728-5p	CLIP-seq
MIRT1456247	hsa-miR-4736	CLIP-seq
MIRT1456249	hsa-miR-4763-3p	CLIP-seq
MIRT1456252	hsa-miR-486-3p	CLIP-seq
MIRT1456254	hsa-miR-509-3p	CLIP-seq
MIRT2136789	hsa-miR-5095	CLIP-seq
MIRT2136790	hsa-miR-541	CLIP-seq
MIRT2136791	hsa-miR-552	CLIP-seq
MIRT2136792	hsa-miR-556-3p	CLIP-seq
MIRT1456261	hsa-miR-563	CLIP-seq
MIRT2136793	hsa-miR-608	CLIP-seq
MIRT2136794	hsa-miR-654-5p	CLIP-seq
MIRT1456264	hsa-miR-873	CLIP-seq
MIRT2136795	hsa-miR-892a	CLIP-seq
MIRT2136796	hsa-miR-943	CLIP-seq
MIRT1456202	hsa-miR-101	CLIP-seq
MIRT1456203	hsa-miR-1206	CLIP-seq
MIRT2357540	hsa-miR-1268	CLIP-seq
MIRT2357541	hsa-miR-1268b	CLIP-seq
MIRT2357542	hsa-miR-1273f	CLIP-seq
MIRT1456206	hsa-miR-1273g	CLIP-seq
MIRT2136773	hsa-miR-1286	CLIP-seq
MIRT2357543	hsa-miR-129-5p	CLIP-seq
MIRT2357544	hsa-miR-1298	CLIP-seq
MIRT2357545	hsa-miR-1304	CLIP-seq
MIRT1456208	hsa-miR-132	CLIP-seq
MIRT1456210	hsa-miR-140-5p	CLIP-seq
MIRT2357546	hsa-miR-143	CLIP-seq
MIRT1456211	hsa-miR-144	CLIP-seq
MIRT1456212	hsa-miR-153	CLIP-seq
MIRT1456213	hsa-miR-190	CLIP-seq
MIRT1456214	hsa-miR-190b	CLIP-seq
MIRT2357547	hsa-miR-200b	CLIP-seq
MIRT2357548	hsa-miR-200c	CLIP-seq
MIRT1456215	hsa-miR-212	CLIP-seq
MIRT1456216	hsa-miR-2355-5p	CLIP-seq
MIRT1456217	hsa-miR-25	CLIP-seq
MIRT2357549	hsa-miR-2964a-5p	CLIP-seq
MIRT2357550	hsa-miR-298	CLIP-seq
MIRT1456218	hsa-miR-300	CLIP-seq
MIRT2357551	hsa-miR-3120-3p	CLIP-seq
MIRT1456219	hsa-miR-3121-3p	CLIP-seq
MIRT2357552	hsa-miR-3140-5p	CLIP-seq
MIRT2136776	hsa-miR-3151	CLIP-seq
MIRT1456222	hsa-miR-3163	CLIP-seq
MIRT2136777	hsa-miR-3177-5p	CLIP-seq
MIRT2136778	hsa-miR-3184	CLIP-seq
MIRT2357553	hsa-miR-3189-3p	CLIP-seq
MIRT1456223	hsa-miR-32	CLIP-seq
MIRT2357554	hsa-miR-345	CLIP-seq
MIRT2136779	hsa-miR-34a	CLIP-seq
MIRT2136780	hsa-miR-34c-5p	CLIP-seq
MIRT1456224	hsa-miR-3591-3p	CLIP-seq
MIRT2357555	hsa-miR-3607-5p	CLIP-seq
MIRT1456225	hsa-miR-3613-3p	CLIP-seq
MIRT2357556	hsa-miR-3614-5p	CLIP-seq
MIRT1456226	hsa-miR-363	CLIP-seq
MIRT1456227	hsa-miR-3662	CLIP-seq
MIRT2357557	hsa-miR-3663-3p	CLIP-seq
MIRT1456228	hsa-miR-3665	CLIP-seq
MIRT1456229	hsa-miR-367	CLIP-seq
MIRT2357558	hsa-miR-3673	CLIP-seq
MIRT2357559	hsa-miR-3678-3p	CLIP-seq
MIRT2357560	hsa-miR-3689a-5p	CLIP-seq
MIRT2357561	hsa-miR-3689b	CLIP-seq
MIRT2357562	hsa-miR-3689e	CLIP-seq
MIRT2357563	hsa-miR-3689f	CLIP-seq
MIRT1456231	hsa-miR-3714	CLIP-seq
MIRT1456232	hsa-miR-375	CLIP-seq
MIRT1456233	hsa-miR-381	CLIP-seq
MIRT2357564	hsa-miR-3908	CLIP-seq
MIRT2357565	hsa-miR-3920	CLIP-seq
MIRT1456235	hsa-miR-3942-3p	CLIP-seq
MIRT2136781	hsa-miR-423-5p	CLIP-seq
MIRT1456236	hsa-miR-4257	CLIP-seq
MIRT1456237	hsa-miR-4260	CLIP-seq
MIRT2357566	hsa-miR-429	CLIP-seq
MIRT2357567	hsa-miR-4312	CLIP-seq
MIRT2357568	hsa-miR-4318	CLIP-seq
MIRT2357569	hsa-miR-4427	CLIP-seq
MIRT1456240	hsa-miR-448	CLIP-seq
MIRT2136785	hsa-miR-449a	CLIP-seq
MIRT2136786	hsa-miR-449b	CLIP-seq
MIRT2357570	hsa-miR-450b-5p	CLIP-seq
MIRT2357571	hsa-miR-4663	CLIP-seq
MIRT1456243	hsa-miR-4666-3p	CLIP-seq
MIRT2357572	hsa-miR-4679	CLIP-seq
MIRT2136788	hsa-miR-4688	CLIP-seq
MIRT2357573	hsa-miR-4693-5p	CLIP-seq
MIRT2357574	hsa-miR-4708-5p	CLIP-seq
MIRT1456244	hsa-miR-4716-3p	CLIP-seq
MIRT1456245	hsa-miR-4723-5p	CLIP-seq
MIRT1456246	hsa-miR-4728-5p	CLIP-seq
MIRT1456247	hsa-miR-4736	CLIP-seq
MIRT2357575	hsa-miR-4750	CLIP-seq
MIRT1456248	hsa-miR-4753-5p	CLIP-seq
MIRT2357576	hsa-miR-4770	CLIP-seq
MIRT2357577	hsa-miR-4786-3p	CLIP-seq
MIRT1456252	hsa-miR-486-3p	CLIP-seq
MIRT2357578	hsa-miR-507	CLIP-seq
MIRT2136789	hsa-miR-5095	CLIP-seq
MIRT1456257	hsa-miR-548aa	CLIP-seq
MIRT1456258	hsa-miR-548ac	CLIP-seq
MIRT1920999	hsa-miR-548ad	CLIP-seq
MIRT1456259	hsa-miR-548d-3p	CLIP-seq
MIRT1921000	hsa-miR-548p	CLIP-seq
MIRT1456260	hsa-miR-548z	CLIP-seq
MIRT2136791	hsa-miR-552	CLIP-seq
MIRT2136792	hsa-miR-556-3p	CLIP-seq
MIRT2357579	hsa-miR-557	CLIP-seq
MIRT1456261	hsa-miR-563	CLIP-seq
MIRT1456263	hsa-miR-582-5p	CLIP-seq
MIRT2357580	hsa-miR-635	CLIP-seq
MIRT2357581	hsa-miR-664	CLIP-seq
MIRT2357582	hsa-miR-711	CLIP-seq
MIRT2357583	hsa-miR-759	CLIP-seq
MIRT1456264	hsa-miR-873	CLIP-seq
MIRT2357584	hsa-miR-890	CLIP-seq
MIRT2136795	hsa-miR-892a	CLIP-seq
MIRT1456265	hsa-miR-92a	CLIP-seq
MIRT1456266	hsa-miR-92b	CLIP-seq
MIRT1456268	hsa-miR-940	CLIP-seq
MIRT2136796	hsa-miR-943	CLIP-seq
MIRT2357540	hsa-miR-1268	CLIP-seq
MIRT2357541	hsa-miR-1268b	CLIP-seq
MIRT2357542	hsa-miR-1273f	CLIP-seq
MIRT2357545	hsa-miR-1304	CLIP-seq
MIRT2357546	hsa-miR-143	CLIP-seq
MIRT1456235	hsa-miR-3942-3p	CLIP-seq
MIRT2357574	hsa-miR-4708-5p	CLIP-seq
MIRT2357575	hsa-miR-4750	CLIP-seq
MIRT2357576	hsa-miR-4770	CLIP-seq
MIRT2357577	hsa-miR-4786-3p	CLIP-seq
MIRT2357544	hsa-miR-1298	CLIP-seq
MIRT1456218	hsa-miR-300	CLIP-seq
MIRT2357551	hsa-miR-3120-3p	CLIP-seq
MIRT2357553	hsa-miR-3189-3p	CLIP-seq
MIRT1456233	hsa-miR-381	CLIP-seq
MIRT2357564	hsa-miR-3908	CLIP-seq
MIRT2357567	hsa-miR-4312	CLIP-seq
MIRT1456243	hsa-miR-4666-3p	CLIP-seq
MIRT1456248	hsa-miR-4753-5p	CLIP-seq
MIRT2434365	hsa-miR-491-3p	CLIP-seq
MIRT1920999	hsa-miR-548ad	CLIP-seq
MIRT1921000	hsa-miR-548p	CLIP-seq
MIRT2357580	hsa-miR-635	CLIP-seq
MIRT2357581	hsa-miR-664	CLIP-seq
MIRT1456235	hsa-miR-3942-3p	CLIP-seq
MIRT2357577	hsa-miR-4786-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004674	Function	Protein serine/threonine kinase activity	TAS	8643598
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005515	Function	Protein binding	IPI	17043677, 19846667, 22666460, 31413325
GO:0005524	Function	ATP binding	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006468	Process	Protein phosphorylation	IEA
GO:0007185	Process	Transmembrane receptor protein tyrosine phosphatase signaling pathway	TAS	8643598
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007411	Process	Axon guidance	IEA
GO:0007417	Process	Central nervous system development	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043065	Process	Positive regulation of apoptotic process	TAS
GO:0045599	Process	Negative regulation of fat cell differentiation	ISS
GO:0048812	Process	Neuron projection morphogenesis	IMP	32109419
GO:0050790	Process	Regulation of catalytic activity	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0106311	Function	Protein threonine kinase activity	IEA

Other IDs

• MIM: 601893
• HGNC: 12303
• e!Ensembl: ENSG00000038382

Protein

• UniProt ID: O75962
• Protein name: Triple functional domain protein (EC 2.7.11.1) (PTPRF-interacting protein)
• Protein function: Guanine nucleotide exchange factor (GEF) for RHOA and RAC1 GTPases (PubMed:22155786, PubMed:27418539, PubMed:8643598). Involved in coordinating actin remodeling, which is necessary for cell migration and growth (PubMed:10341202, PubMed:22155786)
• PDB: 1NTY, 2NZ8, 6D8Z, 7SJ4
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00650	CRAL_TRIO	67 → 205	CRAL/TRIO domain	Domain
  PF00435	Spectrin	340 → 446	Spectrin repeat	Domain
  PF00435	Spectrin	566 → 672	Spectrin repeat	Domain
  PF00435	Spectrin	907 → 1011	Spectrin repeat	Domain
  PF00435	Spectrin	1138 → 1244	Spectrin repeat	Domain
  PF00621	RhoGEF	1296 → 1468	RhoGEF domain	Domain
  PF00169	PH	1480 → 1591	PH domain	Domain
  PF00018	SH3_1	1662 → 1713	SH3 domain	Domain
  PF16609	SH3-RhoG_link	1715 → 1972		Disordered
  PF00621	RhoGEF	1973 → 2143	RhoGEF domain	Domain
  PF00169	PH	2159 → 2271	PH domain	Domain
  PF07679	I-set	2685 → 2776	Immunoglobulin I-set domain	Domain
  PF00069	Pkinase	2796 → 3050	Protein kinase domain	Domain

• Sequence:

  MSGSSGGAAAPAASSGPAAAASAAGSGCGGGAGEGAEEAAKDLADIAAFFRSGFRKNDEM
  KAMDVLPILKEKVAYLSGGRDKRGGPILTFPARSNHDRIRQEDLRRLISYLACIPSEEVC
  KRGFTVIVDMRGSKWDSIKPLLKILQESFPCCIHVALIIKPDNFWQKQRTNFGSSKFEFE
  TNMVSLEGLTKVVDPSQLTPEFDGCLEYNHEEWIEIRVAFEDYISNATHMLSRLEELQDI
  LAKKELPQDLEGARNMIEEHSQLKKKVIKAPIEDLDLEGQKLLQRIQSSESFPKKNSGSG
  NADLQNLLPKVSTMLDRLHSTRQHLHQMWHVRKLKLDQCFQLRLFEQDAEKMFDWITHNK
  GLFLNSYTEIGTSHPHAMELQTQHNHFAMNCMNVYVNINRIMSVANRLVESGHYASQQIR
  QIASQLEQEWKAFAAALDERSTLLDMSSIFHQKAEKYMSNVDSWCKACGEVDLPSELQDL
  EDAIHHHQGIYEHITLAYSEVSQDGKSLLDKLQRPLTPGSSDSLTASANYSKAVHHVLDV
  IHEVLHHQRQLENIWQHRKVRLHQRLQLCVFQQDVQQVLDWIENHGEAFLSKHTGVGKSL
  HRARALQKRHEDFEEVAQNTYTNADKLLEAAEQLAQTGECDPEEIYQAAHQLEDRIQDFV
  RRVEQRKILLDMSVSFHTHVKELWTWLEELQKELLDDVYAESVEAVQDLIKRFGQQQQTT
  LQVTVNVIKEGEDLIQQLRDSAISSNKTPHNSSINHIETVLQQLDEAQSQMEELFQERKI
  KLELFLQLRIFERDAIDIISDLESWNDELSQQMNDFDTEDLTIAEQRLQHHADKALTMNN
  LTFDVIHQGQDLLQYVNEVQASGVELLCDRDVDMATRVQDLLEFLHEKQQELDLAAEQHR
  KHLEQCVQLRHLQAEVKQVLGWIRNGESMLNAGLITASSLQEAEQLQREHEQFQHAIEKT
  HQSALQVQQKAEAMLQANHYDMDMIRDCAEKVASHWQQLMLKMEDRLKLVNASVAFYKTS
  EQVCSVLESLEQEYKREEDWCGGADKLGPNSETDHVTPMISKHLEQKEAFLKACTLARRN
  ADVFLKYLHRNSVNMPGMVTHIKAPEQQVKNILNELFQRENRVLHYWTMRKRRLDQCQQY
  VVFERSAKQALEWIHDNGEFYLSTHTSTGSSIQHTQELLKEHEEFQITAKQTKERVKLLI
  QLADGFCEKGHAHAAEIKKCVTAVDKRYRDFSLRMEKYRTSLEKALGISSDSNKSSKSLQ
  LDIIPASIPGSEVKLRDAAHELNEEKRKSARRKEFIMAELIQTEKAYVRDLRECMDTYLW
  EMTSGVEEIPPGIVNKELIIFGNMQEIYEFHNNIFLKELEKYEQLPEDVGHCFVTWADKF
  QMYVTYCKNKPDSTQLILEHAGSYFDEIQQRHGLANSISSYLIKPVQRITKYQLLLKELL
  TCCEEGKGEIKDGLEVMLSVPKRANDAMHLSMLEGFDENIESQGELILQESFQVWDPKTL
  IRKGRERHLFLFEMSLVFSKEVKDSSGRSKYLYKSKLFTSELGVTEHVEGDPCKFALWVG
  RTPTSDNKIVLKASSIENKQDWIKHIREVIQERTIHLKGALKEPIHIPKTAPATRQKGRR
  DGEDLDSQGDGSSQPDTISIASRTSQNTLDSDKLSGGCELTVVIHDFTACNSNELTIRRG
  QTVEVLERPHDKPDWCLVRTTDRSPAAEGLVPCGSLCIAHSRSSMEMEGIFNHKDSLSVS
  SNDASPPASVASLQPHMIGAQSSPGPKRPGNTLRKWLTSPVRRLSSGKADGHVKKLAHKH
  KKSREVRKSADAGSQKDSDDSAATPQDETVEERGRNEGLSSGTLSKSSSSGMQSCGEEEG
  EEGADAVPLPPPMAIQQHSLLQPDSQDDKASSRLLVRPTSSETPSAAELVSAIEELVKSK
  MALEDRPSSLLVDQGDSSSPSFNPSDNSLLSSSSPIDEMEERKSSSLKRRHYVLQELVET
  ERDYVRDLGYVVEGYMALMKEDGVPDDMKGKDKIVFGNIHQIYDWHRDFFLGELEKCLED
  PEKLGSLFVKHERRLHMYIAYCQNKPKSEHIVSEYIDTFFEDLKQRLGHRLQLTDLLIKP
  VQRIMKYQLLLKDFLKYSKKASLDTSELERAVEVMCIVPRRCNDMMNVGRLQGFDGKIVA
  QGKLLLQDTFLVTDQDAGLLPRCRERRIFLFEQIVIFSEPLDKKKGFSMPGFLFKNSIKV
  SCLCLEENVENDPCKFALTSRTGDVVETFILHSSSPSVRQTWIHEINQILENQRNFLNAL
  TSPIEYQRNHSGGGGGGGSGGSGGGGGSGGGGAPSGGSGHSGGPSSCGGAPSTSRSRPSR
  IPQPVRHHPPVLVSSAASSQAEADKMSGTSTPGPSLPPPGAAPEAGPSAPSRRPPGADAE
  GSEREAEPIPKMKVLESPRKGAANASGSSPDAPAKDARASLGTLPLGKPRAGAASPLNSP
  LSSAVPSLGKEPFPPSSPLQKGGSFWSSIPASPASRPGSFTFPGDSDSLQRQTPRHAAPG
  KDTDRMSTCSSASEQSVQSTQSNGSESSSSSNISTMLVTHDYTAVKEDEINVYQGEVVQI
  LASNQQNMFLVFRAATDQCPAAEGWIPGFVLGHTSAVIVENPDGTLKKSTSWHTALRLRK
  KSEKKDKDGKREGKLENGYRKSREGLSNKVSVKLLNPNYIYDVPPEFVIPLSEVTCETGE
  TVVLRCRVCGRPKASITWKGPEHNTLNNDGHYSISYSDLGEATLKIVGVTTEDDGIYTCI
  AVNDMGSASSSASLRVLGPGMDGIMVTWKDNFDSFYSEVAELGRGRFSVVKKCDQKGTKR
  AVATKFVNKKLMKRDQVTHELGILQSLQHPLLVGLLDTFETPTSYILVLEMADQGRLLDC
  VVRWGSLTEGKIRAHLGEVLEAVRYLHNCRIAHLDLKPENILVDESLAKPTIKLADFGDA
  VQLNTTYYIHQLLGNPEFAAPEIILGNPVSLTSDTWSVGVLTYVLLSGVSPFLDDSVEET
  CLNICRLDFSFPDDYFKGVSQKAKEFVCFLLQEDPAKRPSAALALQEQWLQAGNGRSTGV
  LDTSRLTSFIERRKHQNDVRPIRSIKNFLQSRLLPRV

• Sequence length: 3097

Pathways

Reactome:

NRAGE signals death through JNK
Rho GTPase cycle
G alpha (q) signalling events
G alpha (12/13) signalling events
DCC mediated attractive signaling

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Atrioventricular septal defect	Atrioventricular Septal Defect	rs121912626, rs121912627, rs137852683, rs137852686, rs104894073, rs1598737972, rs1057518960, rs774018674, rs1575650682, rs1598737976, rs1188358849, rs2033057699
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs120074176, rs786205019
Autism	Autistic behavior	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
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
Deafness	Deafness, Autosomal Recessive 28	rs267607135, rs387906219, rs387906220, rs387906221, rs387906222, rs606231120, rs267606855, rs121918370, rs137853185, rs137853186, rs137853187, rs137853188, rs587776522, rs587776523, rs200781822, rs118203957, rs111706634, rs118203988, rs1559365985, rs118203989, rs1559371613, rs1559372640, rs1559366000, rs118204026, rs118204027, rs118204028, rs118204029, rs118204030, rs118204031, rs1601632909, rs779841884, rs104893975, rs1581972457, rs1562687726, rs1562687295, rs398122997, rs119103279, rs28940307, rs137852839, rs121918339, rs876661301, rs28942097, rs28941781, rs876657371, rs267607120, rs1567381218, rs193919333, rs1564568849, rs1023746725, rs121908072, rs121908073, rs1169090943, rs121908076, rs786200882, rs786200883, rs1569770998, rs1569726455, rs121908134, rs121908136, rs1569771486, rs1569712066, rs28937893, rs104893883, rs104893882, rs74315205, rs1584317722, rs111033308, rs80338848, rs28939086, rs80338849, rs111033244, rs111033303, rs121908364, rs121908362, rs121908363, rs765884316, rs111033307, rs111033348, rs2129315781, rs121908365, rs111033199, rs111033254, rs111033205, rs111033313, rs121908366, rs111033212, rs786200885, rs74315437, rs111033270, rs121908348, rs121908349, rs111033271, rs121908351, rs121908352, rs121908354, rs137853001, rs199469706, rs137853002, rs137853003, rs137852999, rs28939084, rs137853000, rs1480243085, rs397515359, rs151045328, rs121908370, rs104894414, rs80356600, rs80356584, rs2147483647, rs80356605, rs80356593, rs28937591, rs80356602, rs80356596, rs80356586, rs2128781753, rs28937588, rs80358277, rs28939710, rs80358271, rs80358278, rs80358276, rs80358272, rs80358279, rs121908927, rs121908929, rs28938175, rs121908930, rs121908932, rs121908934, rs121908965, rs121908966, rs121908967, rs121908968, rs748108031, rs121908969, rs121908971, rs769884586, rs121908972, rs746051220, rs1270302810, rs1567664131, rs121909058, rs966621865, rs121909059, rs121909060, rs1591437831, rs1281790755, rs121909061, rs121909063, rs1591462832, rs398124631, rs121909056, rs121909057, rs137853073, rs121909110, rs121909111, rs1476157529, rs104894478, rs80356460, rs121912557, rs1562201376, rs121912558, rs121912561, rs1562283089, rs121965079, rs41298133, rs28934610, rs121965081, rs2135550200, rs121965082, rs2135478294, rs121965084, rs1555102843, rs121918379, rs1372141763, rs121918380, rs1191259480, rs267607037, rs80338834, rs80338829, rs80338828, rs80338831, rs121913657, rs137853235, rs1788701297, rs35887622, rs80338944, rs104894396, rs104894397, rs80338939, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs886037624, rs80338943, rs80338945, rs104894401, rs104894406, rs104894407, rs72474224, rs886037625, rs28931595, rs28931593, rs80338940, rs104894413, rs104894409, rs72561723, rs121912947, rs121912948, rs121912950, rs28999111, rs104894544, rs104894545, rs104894546, rs104894547, rs267606630, rs267606631, rs267606932, rs1801002, rs80338941, rs80356587, rs80356590, rs80356591, rs80356595, rs80356594, rs80356598, rs281875328, rs281875329, rs80338950, rs201539845, rs387906700, rs387906915, rs387906930, rs387906999, rs387907000, rs748150647, rs387907001, rs946085339, rs387907002, rs387907015, rs387907016, rs387907017, rs75949023, rs387907088, rs149258390, rs387907149, rs782540538, rs397515411, rs370965183, rs397515412, rs1233562246, rs397514588, rs902734999, rs397514599, rs1029389440, rs397514607, rs397514608, rs397515435, rs111033206, rs111033201, rs397516295, rs111033437, rs111033233, rs199897298, rs111033214, rs111033178, rs111033347, rs111033187, rs111033174, rs111033448, rs111033182, rs397516317, rs368657015, rs397516322, rs111033215, rs111033232, rs397516326, rs111033283, rs111033285, rs397516411, rs111033314, rs397516413, rs397516414, rs111033305, rs111033220, rs111033311, rs111033306, rs397516416, rs397516417, rs111033407, rs397516418, rs111033316, rs111033312, rs397516420, rs111033257, rs397516421, rs397516424, rs111033309, rs111033318, rs397516427, rs111033241, rs111033302, rs145254330, rs111033380, rs111033242, rs111033256, rs111033454, rs111033245, rs111033297, rs111033451, rs111033293, rs111033361, rs397516871, rs111033299, rs111033204, rs111033253, rs397516873, rs104894408, rs111033295, rs397516874, rs76434661, rs111033217, rs111033420, rs111033335, rs111033294, rs111033190, rs111033401, rs200451098, rs397517287, rs373462792, rs372466080, rs397517323, rs56264519, rs374793617, rs201632198, rs147231991, rs181949335, rs397517452, rs202033121, rs151001642, rs370898981, rs188119157, rs111033383, rs111033405, rs199766465, rs111033373, rs111033349, rs587777040, rs397515581, rs397515582, rs1443739332, rs397515583, rs397515589, rs397515590, rs397515591, rs201329629, rs397515596, rs397515598, rs199848801, rs397515601, rs147321712, rs143939430, rs397515605, rs397515608, rs397515609, rs397515610, rs1648206560, rs398122967, rs398123006, rs398123070, rs431905513, rs431905517, rs431905518, rs200656442, rs587777147, rs199700840, rs1064792854, rs483352866, rs483353048, rs483353050, rs483353049, rs587777424, rs587777691, rs587777692, rs202138002, rs281865414, rs183258549, rs137853969, rs587783647, rs587783646, rs143343083, rs606231308, rs606231410, rs794729665, rs724160024, rs724160022, rs724160025, rs724160021, rs724160020, rs724160026, rs724160018, rs724160016, rs724160015, rs724160014, rs200147906, rs397515597, rs727504567, rs727505088, rs727503430, rs727503428, rs727505273, rs545947177, rs727504301, rs727503329, rs727504709, rs376764423, rs727503066, rs730880338, rs727504302, rs148690740, rs139956283, rs727503442, rs199839039, rs727503443, rs377480477, rs727503444, rs727504304, rs372526764, rs727503493, rs377015931, rs201587138, rs373937326, rs727503309, rs201978571, rs727503315, rs727505104, rs727503062, rs111033403, rs797044491, rs797044512, rs730882242, rs786201027, rs794728016, rs539699299, rs786204504, rs786204581, rs370588279, rs786204421, rs746238617, rs786204730, rs542620119, rs786204600, rs146281367, rs786204474, rs786204601, rs786204450, rs786204739, rs368119540, rs200455203, rs752807925, rs786204523, rs748706627, rs786204597, rs771748289, rs773528125, rs786204690, rs756484720, rs786204491, rs781534323, rs104894395, rs111033296, rs371024165, rs368027306, rs371100799, rs786204841, rs786205880, rs786205881, rs772264564, rs794729637, rs875989828, rs869320674, rs797044960, rs1553165199, rs797044965, rs797044966, rs797044967, rs797044968, rs797044969, rs797044970, rs797044972, rs797044907, rs797045596, rs778909195, rs863225243, rs863225431, rs863225432, rs864309523, rs864309524, rs869312750, rs869312749, rs754391973, rs201650281, rs397516875, rs532203068, rs876657776, rs762352115, rs876657653, rs757820624, rs138527651, rs773404494, rs876657754, rs876657656, rs876657658, rs766753922, rs759174628, rs876657725, rs772536599, rs765468034, rs184435771, rs143797113, rs782255281, rs876661405, rs876661408, rs777112652, rs878853223, rs878853225, rs878853229, rs878853230, rs753896285, rs140236996, rs878853224, rs878853235, rs878853236, rs878853226, rs774312182, rs878853232, rs878853239, rs377385081, rs878853227, rs878853228, rs878853238, rs878853231, rs878854409, rs878854410, rs878854412, rs878854413, rs878854414, rs878854415, rs779445819, rs774518779, rs1554358720, rs374742590, rs750188782, rs886043441, rs886043616, rs763975867, rs370730786, rs886044666, rs886052676, rs201636911, rs1057516658, rs1057516953, rs1057516988, rs1057516881, rs768245266, rs912147281, rs777333979, rs777008062, rs147952620, rs142498437, rs1057517000, rs376653349, rs1057516243, rs1057517303, rs542079779, rs1057516472, rs770832663, rs758685587, rs1057516342, rs757027638, rs1057517261, rs1057517251, rs1057517264, rs138138689, rs377145777, rs201892914, rs376535635, rs1057517521, rs770116143, rs1057517508, rs767178508, rs199883710, rs1057517491, rs1057517519, rs371086981, rs1057517839, rs766631025, rs201895089, rs1057519601, rs1057519603, rs779077039, rs1057519604, rs1057519606, rs1057519607, rs1057523846, rs763797356, rs139805921, rs1060499651, rs751447996, rs781688103, rs1060499805, rs1060499810, rs1060499799, rs1060499808, rs727503483, rs1056396947, rs1060499788, rs1060499791, rs778251205, rs1060499792, rs1060499793, rs1060499789, rs1060499790, rs764153521, rs1060499800, rs1060499803, rs1060499801, rs1060499802, rs747656448, rs1060499794, rs375916159, rs1060499804, rs1060499798, rs373520843, rs1060499811, rs1060499809, rs549095193, rs141142414, rs554847663, rs571594379, rs1555543836, rs549138385, rs1064797088, rs1064797096, rs1555501320, rs1131691778, rs748302886, rs756790858, rs777911261, rs768620276, rs200090033, rs775633137, rs372855769, rs780170125, rs1555512658, rs778748895, rs1355262412, rs782166819, rs782063761, rs1199012623, rs1378679640, rs1569308571, rs756147087, rs1554874373, rs1554856042, rs753580324, rs1553353527, rs1403112959, rs1553356452, rs1554352234, rs1554352676, rs1554355011, rs201562855, rs1554360358, rs1554360678, rs763006761, rs192366176, rs1554360816, rs749013429, rs1399914687, rs1554362735, rs1390562340, rs1554871816, rs758382198, rs750880909, rs1554874879, rs1554874900, rs1264310782, rs1554877797, rs144948296, rs1248889536, rs752649606, rs530520654, rs1555341794, rs141774369, rs760461823, rs537227442, rs750078356, rs773916549, rs782292032, rs1555546699, rs1477766714, rs1555896285, rs1555342014, rs775828835, rs574007567, rs1306586204, rs1555683951, rs781546107, rs769443188, rs771720649, rs769260536, rs762551629, rs1554882652, rs371465450, rs1554357231, rs1221876133, rs1293971731, rs775428246, rs772430523, rs1157646266, rs748854592, rs748868741, rs375459945, rs397517376, rs764178233, rs771264491, rs759523751, rs763915229, rs373058706, rs1555051455, rs782539587, rs1064797090, rs866476223, rs1555547112, rs1245338270, rs952235302, rs771844359, rs750130520, rs571007078, rs768257384, rs936479651, rs1554275988, rs551348450, rs1554218566, rs1553950635, rs1409994676, rs201326023, rs918684449, rs747076316, rs1554359693, rs1045933779, rs1554354787, rs1275009555, rs121908361, rs201660407, rs1554359670, rs1205712508, rs768471577, rs1554360707, rs142656144, rs1554362815, rs1554822897, rs1168400018, rs1554822703, rs1328440878, rs756692340, rs1554833249, rs1554883705, rs143842048, rs1304228309, rs778110397, rs1187887456, rs1298596518, rs1223763703, rs758555088, rs147956944, rs1207247951, rs1554960388, rs1554960390, rs771279169, rs1283092935, rs1317951509, rs1385324903, rs921755529, rs782064437, rs775496999, rs1253943370, rs568612627, rs1555341926, rs1555341931, rs1555342007, rs1555341783, rs1555341960, rs1555341993, rs1555341949, rs769486081, rs1555341954, rs749861944, rs961865375, rs369245990, rs148737918, rs759201338, rs1553191001, rs549556142, rs1330406146, rs145666727, rs998045226, rs375759781, rs1567658710, 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, rs762876554, rs757327146, rs1564555185, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs751906778, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs1271250198, rs1567411469, rs1566528901, rs1302739538, rs1558014576, rs759414956, rs149712664, rs1567649945, rs1568839335, rs747955135, rs147717802, rs755471554, rs576724182, rs1564556995, rs762226905, rs773573968, rs1233145763, rs377748152, rs1564554148, rs1485674839, rs1562505728, rs1564803868, rs1565129771, rs756606635, rs774366025, rs1567620939, rs1557977732, rs773648511, rs1567396832, rs1557659237, rs1558482554, rs1558489384, rs1559875009, rs371544695, rs1562835480, rs1284633493, rs1562835515, rs746427774, rs1241745103, rs776268964, rs1187168418, rs1564386891, rs1564583413, rs1564544199, rs1564544348, rs1564795354, rs1344509500, rs1565536400, rs1591961566, rs1565331646, rs1565455391, rs1566528185, rs763904943, rs1567618790, rs1229200252, rs1567623176, rs866595552, rs1567638693, rs1555543432, rs1240409145, rs766250454, rs1568278651, rs1569034190, rs1569040134, rs1569042693, rs1569046250, rs1564602202, rs1564759653, rs1564791773, rs1565017125, rs1555076948, rs1338605788, rs751142446, rs773461233, rs1567658906, rs1429442821, rs201613240, rs202086317, rs1298804148, rs1291519904, rs763572195, rs1567624190, rs749136456, rs1418245706, rs1422767764, rs1562336726, rs1558472243, rs1274464930, rs1558485249, rs587783645, rs763898293, rs1591158999, rs771622183, rs1339709390, rs1584292992, rs760866131, rs1589156388, rs1591019480, rs1589072933, rs1591999307, rs111033477, rs889110926, rs1322423998, rs775776282, rs1597787868, rs984967571, rs1584304377, rs760413427, rs773861155, rs1584337228, rs1584337274, rs1584344549, rs1720770872, rs773729617, rs752714222, rs1591224147, rs1597747826, rs1589079163, rs1589950125, rs1446588093, rs1591287317, rs1591310948, rs1591378140, rs1591514873, rs1597752877, rs766187994, rs281875327, rs1583335192, rs1598551290, rs111033290, rs1571147567, rs1571177726, rs1187285510, rs1584331188, rs1384677442, rs550153707, rs1583366400, rs1582024232, rs1599083635, rs1264383341, rs376104832, rs1366021609, rs757070287, rs1598914701, rs1601639680, rs759792660, rs1596339533, rs1601514990, rs1421964916, rs1952428470, rs1959056736, rs1442485603, rs2033273061, rs1407136283, rs963520367, rs951333133, rs1947057220, rs751369871, rs767270134, rs764867438, rs1288328459, rs2046752611, rs760069953, rs2032939837, rs1390498839, rs769983282, rs772048719, rs2094144044, rs1943288780, rs530874854
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
Hypercalcemia	Hypercalcemia	rs876657376, rs387907322, rs777676129, rs387907323, rs114368325, rs6068812, rs387907324, rs777947329, rs201304511, rs769409705, rs200095793, rs876661338, rs1554095500, rs139763321, rs774432244, rs781367354
Leukemia	Leukemia, Myelocytic, Acute, Acute Myeloid Leukemia (AML-M2)	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601	18206229
Mental retardation	Borderline intellectual disability, Mild Mental Retardation, Intellectual Disability, MENTAL RETARDATION, AUTOSOMAL DOMINANT 44	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131	27418539, 26721934
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	25533962, 26721934, 27418539, 22495306, 28928363, 24038936, 25363760, 8643598, 23033978
Neurodevelopmental disorders	Neurodevelopmental Disorders	rs869312846, rs869312840, rs869312848, rs869312849, rs869312845, rs886041956, rs1064795110, rs1555762734, rs1555764992, rs1568512728, rs1568532361, rs1595472741, rs1595472764, rs1595476797, rs1016320330, rs1595127294, rs1600392059	28191889
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Thyroid hormone resistance	Thyroid Hormone Resistance Syndrome	rs121918686, rs121918688, rs121918687, rs387906515, rs121918690, rs28999971, rs121918691, rs28933408, rs121918692, rs121918693, rs121918694, rs121918695, rs121918696, rs121918697, rs121918698, rs121918703, rs121918704, rs121918705, rs121918706, rs121918707, rs121918708, rs1057519028, rs1060499695, rs1553610984, rs1553609185, rs1553609090, rs1553609119, rs1553609152, rs1553609179, rs1553610974, rs1553611038, rs1553611075, rs1553611083, rs750905761, rs1553609167, rs1553609210

Unknown
Disease name	Disease term	dbSNP ID	References
Camptodactyly of fingers	Clinodactyly of the 5th finger
Clinodactyly	Clinodactyly of fingers, Clinodactyly
Congenital epicanthus	Congenital Epicanthus
Congenital microcephaly	Congenital microcephaly
Congenital pectus excavatum	Congenital pectus excavatum
Congenital ptosis	Congenital ptosis
Coronary heart disease	Coronary heart disease	rs9289231, rs281864746	22751097
Dysmorphic features	Dysmorphic features		26721934, 23033978, 25533962, 8643598, 24038936, 28928363, 27418539, 25363760, 22495306
Dyssomnia	Dyssomnias
High palate	Byzanthine arch palate
Hypodontia	Hypodontia
Liver neoplasms	Liver neoplasms		19233941
Liver cancer	Malignant neoplasm of liver		19233941
Macrotia	Macrotia
Mental depression	Major Depressive Disorder	rs587778876, rs587778877	27777418
Metastatic melanoma	Metastatic melanoma
Micrognathism	Micrognathism
Motor delay	Clumsiness - motor delay
Myeloid leukemia	Acute Myeloid Leukemia, M1		18206229
Obsessive-compulsive disorder	Obsessive compulsive behavior
Sleep disorders	Sleep Disorders
Specific learning disorder	Specific learning disability	rs1057519497
Stereotyped behavior	Stereotyped Behavior
Strabismus	Strabismus
Syndactyly of the toes	2-3 toe syndactyly
Synophrys	Synophrys