GeDiPNet: Comprehensive Gene Data - OMIM, HGNC, Ensembl, UniProt, GO, Transcription Factors & miRNA

Home
Browse
- Genes
- Diseases
- Pathways
  - Reactome
  - KEGG
Analysis
Help
Links
FAQ
Contact us

UBE3A (ubiquitin protein ligase E3A)

Gene

7337

Ubiquitin protein ligase E3A

UBE3A

ANCR, AS, E6-AP, EPVE6AP, HPVE6A, PIX1

15q11.2

This gene encodes an E3 ubiquitin-protein ligase, part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelm

Show/Hide all(264)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019860	hsa-miR-375	Microarray	20215506
MIRT030496	hsa-miR-24-3p	Microarray	19748357
MIRT019860	hsa-miR-375	PAR-CLIP	21572407
MIRT546137	hsa-miR-5692a	PAR-CLIP	21572407
MIRT546136	hsa-miR-541-5p	PAR-CLIP	21572407
MIRT192300	hsa-miR-944	PAR-CLIP	21572407
MIRT546135	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT546133	hsa-miR-5692b	PAR-CLIP	21572407
MIRT546134	hsa-miR-5692c	PAR-CLIP	21572407
MIRT546132	hsa-miR-3613-3p	PAR-CLIP	21572407
MIRT546131	hsa-miR-1206	PAR-CLIP	21572407
MIRT546130	hsa-miR-6853-3p	PAR-CLIP	21572407
MIRT192294	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT192299	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT546128	hsa-miR-5007-3p	PAR-CLIP	21572407
MIRT546129	hsa-miR-6739-3p	PAR-CLIP	21572407
MIRT733700	hsa-miR-26a-5p	ELISA, Immunoprecipitaion (IP), Luciferase reporter assay, Western blotting	33857357
MIRT734437	hsa-miR-302c-3p	Western blotting, Luciferase reporter assay, qRT-PCR	31949242
MIRT019860	hsa-miR-375	PAR-CLIP	21572407
MIRT546137	hsa-miR-5692a	PAR-CLIP	21572407
MIRT546136	hsa-miR-541-5p	PAR-CLIP	21572407
MIRT192300	hsa-miR-944	PAR-CLIP	21572407
MIRT546135	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT546133	hsa-miR-5692b	PAR-CLIP	21572407
MIRT546134	hsa-miR-5692c	PAR-CLIP	21572407
MIRT546132	hsa-miR-3613-3p	PAR-CLIP	21572407
MIRT546131	hsa-miR-1206	PAR-CLIP	21572407
MIRT546130	hsa-miR-6853-3p	PAR-CLIP	21572407
MIRT192294	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT192299	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT546128	hsa-miR-5007-3p	PAR-CLIP	21572407
MIRT546129	hsa-miR-6739-3p	PAR-CLIP	21572407
MIRT1469322	hsa-miR-1229	CLIP-seq
MIRT1469323	hsa-miR-124	CLIP-seq
MIRT1469324	hsa-miR-1283	CLIP-seq
MIRT1469325	hsa-miR-2052	CLIP-seq
MIRT1469326	hsa-miR-3065-3p	CLIP-seq
MIRT1469327	hsa-miR-3074-3p	CLIP-seq
MIRT1469328	hsa-miR-3074-5p	CLIP-seq
MIRT1469329	hsa-miR-3143	CLIP-seq
MIRT1469330	hsa-miR-3618	CLIP-seq
MIRT1469331	hsa-miR-3667-3p	CLIP-seq
MIRT1469332	hsa-miR-3688-5p	CLIP-seq
MIRT1469333	hsa-miR-4282	CLIP-seq
MIRT1469334	hsa-miR-4287	CLIP-seq
MIRT1469335	hsa-miR-4307	CLIP-seq
MIRT1469336	hsa-miR-4317	CLIP-seq
MIRT1469337	hsa-miR-4452	CLIP-seq
MIRT1469338	hsa-miR-4453	CLIP-seq
MIRT1469339	hsa-miR-4469	CLIP-seq
MIRT1469340	hsa-miR-450b-5p	CLIP-seq
MIRT1469341	hsa-miR-4538	CLIP-seq
MIRT1469342	hsa-miR-4643	CLIP-seq
MIRT1469343	hsa-miR-4685-3p	CLIP-seq
MIRT1469344	hsa-miR-4696	CLIP-seq
MIRT1469345	hsa-miR-4713-5p	CLIP-seq
MIRT1469346	hsa-miR-4722-3p	CLIP-seq
MIRT1469347	hsa-miR-4724-5p	CLIP-seq
MIRT1469348	hsa-miR-494	CLIP-seq
MIRT1469349	hsa-miR-506	CLIP-seq
MIRT1469350	hsa-miR-507	CLIP-seq
MIRT1469351	hsa-miR-513a-3p	CLIP-seq
MIRT1469352	hsa-miR-513c	CLIP-seq
MIRT1469353	hsa-miR-514b-5p	CLIP-seq
MIRT1469354	hsa-miR-522	CLIP-seq
MIRT1469355	hsa-miR-548p	CLIP-seq
MIRT1469356	hsa-miR-557	CLIP-seq
MIRT1469357	hsa-miR-601	CLIP-seq
MIRT1469358	hsa-miR-607	CLIP-seq
MIRT1469359	hsa-miR-642b	CLIP-seq
MIRT1469360	hsa-miR-1244	CLIP-seq
MIRT1469361	hsa-miR-1302	CLIP-seq
MIRT1469362	hsa-miR-197	CLIP-seq
MIRT1469363	hsa-miR-3117-5p	CLIP-seq
MIRT1469364	hsa-miR-3189-3p	CLIP-seq
MIRT1469365	hsa-miR-3689a-3p	CLIP-seq
MIRT1469366	hsa-miR-3689c	CLIP-seq
MIRT1469333	hsa-miR-4282	CLIP-seq
MIRT1469367	hsa-miR-4298	CLIP-seq
MIRT1469336	hsa-miR-4317	CLIP-seq
MIRT1469342	hsa-miR-4643	CLIP-seq
MIRT1469344	hsa-miR-4696	CLIP-seq
MIRT1469368	hsa-miR-4704-3p	CLIP-seq
MIRT1469369	hsa-miR-4705	CLIP-seq
MIRT1469347	hsa-miR-4724-5p	CLIP-seq
MIRT1469348	hsa-miR-494	CLIP-seq
MIRT1469370	hsa-miR-502-5p	CLIP-seq
MIRT1469359	hsa-miR-642b	CLIP-seq
MIRT1469371	hsa-miR-302f	CLIP-seq
MIRT1469331	hsa-miR-3667-3p	CLIP-seq
MIRT1469372	hsa-miR-4711-5p	CLIP-seq
MIRT1469373	hsa-miR-4773	CLIP-seq
MIRT1469351	hsa-miR-513a-3p	CLIP-seq
MIRT1469374	hsa-miR-579	CLIP-seq
MIRT1555327	hsa-miR-3622b-5p	CLIP-seq
MIRT1469332	hsa-miR-3688-5p	CLIP-seq
MIRT2141012	hsa-miR-1208	CLIP-seq
MIRT2141013	hsa-miR-1275	CLIP-seq
MIRT2141014	hsa-miR-1297	CLIP-seq
MIRT2141015	hsa-miR-1305	CLIP-seq
MIRT2141016	hsa-miR-1321	CLIP-seq
MIRT2141017	hsa-miR-186	CLIP-seq
MIRT2141018	hsa-miR-204	CLIP-seq
MIRT2141019	hsa-miR-211	CLIP-seq
MIRT2141020	hsa-miR-23a	CLIP-seq
MIRT2141021	hsa-miR-23b	CLIP-seq
MIRT2141022	hsa-miR-23c	CLIP-seq
MIRT2141023	hsa-miR-26a	CLIP-seq
MIRT2141024	hsa-miR-26b	CLIP-seq
MIRT2141025	hsa-miR-300	CLIP-seq
MIRT1469371	hsa-miR-302f	CLIP-seq
MIRT2141026	hsa-miR-3133	CLIP-seq
MIRT2141027	hsa-miR-3140-3p	CLIP-seq
MIRT2141028	hsa-miR-3154	CLIP-seq
MIRT2141029	hsa-miR-3612	CLIP-seq
MIRT1469331	hsa-miR-3667-3p	CLIP-seq
MIRT2141030	hsa-miR-374a	CLIP-seq
MIRT2141031	hsa-miR-374b	CLIP-seq
MIRT2141032	hsa-miR-381	CLIP-seq
MIRT2141033	hsa-miR-4260	CLIP-seq
MIRT1469334	hsa-miR-4287	CLIP-seq
MIRT2141034	hsa-miR-4465	CLIP-seq
MIRT1469339	hsa-miR-4469	CLIP-seq
MIRT2141035	hsa-miR-4488	CLIP-seq
MIRT2141036	hsa-miR-4489	CLIP-seq
MIRT2141037	hsa-miR-452	CLIP-seq
MIRT2141038	hsa-miR-4528	CLIP-seq
MIRT2141039	hsa-miR-4665-5p	CLIP-seq
MIRT2141040	hsa-miR-4676-3p	CLIP-seq
MIRT1469343	hsa-miR-4685-3p	CLIP-seq
MIRT2141041	hsa-miR-4697-5p	CLIP-seq
MIRT1469372	hsa-miR-4711-5p	CLIP-seq
MIRT1469345	hsa-miR-4713-5p	CLIP-seq
MIRT2141042	hsa-miR-4717-3p	CLIP-seq
MIRT2141043	hsa-miR-4739	CLIP-seq
MIRT2141044	hsa-miR-4756-5p	CLIP-seq
MIRT2141045	hsa-miR-4761-5p	CLIP-seq
MIRT1469373	hsa-miR-4773	CLIP-seq
MIRT2141046	hsa-miR-493	CLIP-seq
MIRT2141047	hsa-miR-498	CLIP-seq
MIRT1469358	hsa-miR-607	CLIP-seq
MIRT2141048	hsa-miR-650	CLIP-seq
MIRT2141049	hsa-miR-9	CLIP-seq
MIRT2362072	hsa-miR-1183	CLIP-seq
MIRT2141012	hsa-miR-1208	CLIP-seq
MIRT1469323	hsa-miR-124	CLIP-seq
MIRT1469360	hsa-miR-1244	CLIP-seq
MIRT2362073	hsa-miR-1267	CLIP-seq
MIRT2141014	hsa-miR-1297	CLIP-seq
MIRT2362074	hsa-miR-1298	CLIP-seq
MIRT2141015	hsa-miR-1305	CLIP-seq
MIRT2362075	hsa-miR-132	CLIP-seq
MIRT2141016	hsa-miR-1321	CLIP-seq
MIRT2362076	hsa-miR-139-5p	CLIP-seq
MIRT2362077	hsa-miR-141	CLIP-seq
MIRT2141017	hsa-miR-186	CLIP-seq
MIRT2362078	hsa-miR-200a	CLIP-seq
MIRT2141018	hsa-miR-204	CLIP-seq
MIRT2141019	hsa-miR-211	CLIP-seq
MIRT2362079	hsa-miR-212	CLIP-seq
MIRT2141023	hsa-miR-26a	CLIP-seq
MIRT2141024	hsa-miR-26b	CLIP-seq
MIRT2141025	hsa-miR-300	CLIP-seq
MIRT1469326	hsa-miR-3065-3p	CLIP-seq
MIRT1469328	hsa-miR-3074-5p	CLIP-seq
MIRT2141026	hsa-miR-3133	CLIP-seq
MIRT2141028	hsa-miR-3154	CLIP-seq
MIRT2362080	hsa-miR-3168	CLIP-seq
MIRT2362081	hsa-miR-3180-5p	CLIP-seq
MIRT1469364	hsa-miR-3189-3p	CLIP-seq
MIRT2362082	hsa-miR-320a	CLIP-seq
MIRT2362083	hsa-miR-320b	CLIP-seq
MIRT2362084	hsa-miR-320c	CLIP-seq
MIRT2362085	hsa-miR-320d	CLIP-seq
MIRT2141029	hsa-miR-3612	CLIP-seq
MIRT1469365	hsa-miR-3689a-3p	CLIP-seq
MIRT1469366	hsa-miR-3689c	CLIP-seq
MIRT2141032	hsa-miR-381	CLIP-seq
MIRT2362086	hsa-miR-4255	CLIP-seq
MIRT2362087	hsa-miR-4429	CLIP-seq
MIRT2141034	hsa-miR-4465	CLIP-seq
MIRT2141037	hsa-miR-452	CLIP-seq
MIRT2362088	hsa-miR-4652-3p	CLIP-seq
MIRT2141040	hsa-miR-4676-3p	CLIP-seq
MIRT2362089	hsa-miR-4684-3p	CLIP-seq
MIRT2362090	hsa-miR-4690-3p	CLIP-seq
MIRT2362091	hsa-miR-4693-5p	CLIP-seq
MIRT1469368	hsa-miR-4704-3p	CLIP-seq
MIRT1469369	hsa-miR-4705	CLIP-seq
MIRT1469346	hsa-miR-4722-3p	CLIP-seq
MIRT2362092	hsa-miR-4731-3p	CLIP-seq
MIRT2141043	hsa-miR-4739	CLIP-seq
MIRT2141044	hsa-miR-4756-5p	CLIP-seq
MIRT2141045	hsa-miR-4761-5p	CLIP-seq
MIRT2362093	hsa-miR-4801	CLIP-seq
MIRT2362094	hsa-miR-488	CLIP-seq
MIRT2141046	hsa-miR-493	CLIP-seq
MIRT2362095	hsa-miR-495	CLIP-seq
MIRT2141047	hsa-miR-498	CLIP-seq
MIRT1469370	hsa-miR-502-5p	CLIP-seq
MIRT1469349	hsa-miR-506	CLIP-seq
MIRT1469355	hsa-miR-548p	CLIP-seq
MIRT1469374	hsa-miR-579	CLIP-seq
MIRT1469358	hsa-miR-607	CLIP-seq
MIRT2362096	hsa-miR-633	CLIP-seq
MIRT2141048	hsa-miR-650	CLIP-seq
MIRT2362097	hsa-miR-664	CLIP-seq
MIRT2362098	hsa-miR-802	CLIP-seq
MIRT2362099	hsa-miR-935	CLIP-seq
MIRT2362077	hsa-miR-141	CLIP-seq
MIRT2362078	hsa-miR-200a	CLIP-seq
MIRT2396595	hsa-miR-3163	CLIP-seq
MIRT2362089	hsa-miR-4684-3p	CLIP-seq
MIRT2396596	hsa-miR-4781-3p	CLIP-seq
MIRT2655785	hsa-miR-1179	CLIP-seq
MIRT2655786	hsa-miR-218	CLIP-seq
MIRT2655787	hsa-miR-219-1-3p	CLIP-seq
MIRT2655788	hsa-miR-3064-3p	CLIP-seq
MIRT2655789	hsa-miR-3120-5p	CLIP-seq
MIRT2655790	hsa-miR-3616-3p	CLIP-seq
MIRT1555327	hsa-miR-3622b-5p	CLIP-seq
MIRT1469332	hsa-miR-3688-5p	CLIP-seq
MIRT2655791	hsa-miR-4275	CLIP-seq
MIRT2655792	hsa-miR-4277	CLIP-seq
MIRT2655793	hsa-miR-4303	CLIP-seq
MIRT1469336	hsa-miR-4317	CLIP-seq
MIRT2655794	hsa-miR-4318	CLIP-seq
MIRT2655795	hsa-miR-4328	CLIP-seq
MIRT2655796	hsa-miR-4446-3p	CLIP-seq
MIRT1469342	hsa-miR-4643	CLIP-seq
MIRT2655797	hsa-miR-4649-3p	CLIP-seq
MIRT2362091	hsa-miR-4693-5p	CLIP-seq
MIRT1469344	hsa-miR-4696	CLIP-seq
MIRT2655798	hsa-miR-4721	CLIP-seq
MIRT2655799	hsa-miR-4775	CLIP-seq
MIRT1469348	hsa-miR-494	CLIP-seq
MIRT2362095	hsa-miR-495	CLIP-seq
MIRT2655800	hsa-miR-543	CLIP-seq
MIRT2655801	hsa-miR-561	CLIP-seq
MIRT2655802	hsa-miR-571	CLIP-seq
MIRT2655803	hsa-miR-584	CLIP-seq
MIRT1469359	hsa-miR-642b	CLIP-seq
MIRT2655804	hsa-miR-892a	CLIP-seq
MIRT2655786	hsa-miR-218	CLIP-seq
MIRT2655787	hsa-miR-219-1-3p	CLIP-seq
MIRT2655790	hsa-miR-3616-3p	CLIP-seq
MIRT1555327	hsa-miR-3622b-5p	CLIP-seq
MIRT1469331	hsa-miR-3667-3p	CLIP-seq
MIRT1469332	hsa-miR-3688-5p	CLIP-seq
MIRT2655793	hsa-miR-4303	CLIP-seq
MIRT1469336	hsa-miR-4317	CLIP-seq
MIRT2655794	hsa-miR-4318	CLIP-seq
MIRT2655796	hsa-miR-4446-3p	CLIP-seq
MIRT1469342	hsa-miR-4643	CLIP-seq
MIRT2655797	hsa-miR-4649-3p	CLIP-seq
MIRT2362091	hsa-miR-4693-5p	CLIP-seq
MIRT1469344	hsa-miR-4696	CLIP-seq
MIRT2655798	hsa-miR-4721	CLIP-seq
MIRT2655799	hsa-miR-4775	CLIP-seq
MIRT1469348	hsa-miR-494	CLIP-seq
MIRT2655801	hsa-miR-561	CLIP-seq
MIRT2655802	hsa-miR-571	CLIP-seq
MIRT1469359	hsa-miR-642b	CLIP-seq
MIRT2655804	hsa-miR-892a	CLIP-seq

Show/Hide all(31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000502	Component	Proteasome complex	IEA
GO:0001541	Process	Ovarian follicle development	IEA
GO:0003713	Function	Transcription coactivator activity	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	12890688, 24105792
GO:0005515	Function	Protein binding	IPI	7624774, 9467941, 12207887, 12620801, 16493710, 16772533, 17023019, 17166906, 22483108, 22810586, 23393263, 24728990, 25910212, 26789255, 31515488
GO:0005634	Component	Nucleus	IEA
GO:0005829	Component	Cytosol	IEA
GO:0006508	Process	Proteolysis	TAS	8221889
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IEA
GO:0007420	Process	Brain development	TAS	8988171
GO:0014068	Process	Positive regulation of phosphatidylinositol 3-kinase signaling	IEA
GO:0016032	Process	Viral process	IEA
GO:0030521	Process	Androgen receptor signaling pathway	IEA
GO:0031398	Process	Positive regulation of protein ubiquitination	IDA	17108031
GO:0032570	Process	Response to progesterone	IDA	16772533
GO:0035037	Process	Sperm entry	IEA
GO:0042220	Process	Response to cocaine	IEA
GO:0042542	Process	Response to hydrogen peroxide	IEA
GO:0042752	Process	Regulation of circadian rhythm	IMP	24728990
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048511	Process	Rhythmic process	IEA
GO:0050847	Process	Progesterone receptor signaling pathway	IDA	16772533
GO:0051865	Process	Protein autoubiquitination	IDA	24105792
GO:0060736	Process	Prostate gland growth	IEA
GO:0061002	Process	Negative regulation of dendritic spine morphogenesis	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IMP	7708685
GO:0070936	Process	Protein K48-linked ubiquitination	IDA	12890688
GO:1905528	Process	Positive regulation of Golgi lumen acidification	IEA
GO:1990416	Process	Cellular response to brain-derived neurotrophic factor stimulus	IEA
GO:2000058	Process	Regulation of ubiquitin-dependent protein catabolic process	IMP	24728990

MIM	HGNC	e!Ensembl
601623	12496	ENSG00000114062

Protein

UniProt ID

Q05086

Protein name

Ubiquitin-protein ligase E3A (EC 2.3.2.26) (E6AP ubiquitin-protein ligase) (HECT-type ubiquitin transferase E3A) (Human papillomavirus E6-associated protein) (Oncogenic protein-associated protein E6-AP) (Renal carcinoma antigen NY-REN-54)

Protein function

E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and transfers it to its substrates (PubMed:10373495, PubMed:16772533, PubMed:19204938, PubMed:19233847, PubMed:19325566, PubMe

PDB

1C4Z , 1D5F , 1EQX , 2KR1 , 4GIZ , 4XR8 , 6SJV , 6SLM , 6TGK , 6U19 , 7Q41 , 7QPB , 8ENP , 8EPT , 8GCR , 8JRN , 8JRO , 8JRP , 8JRQ , 8JRR , 8R1F , 8R1G , 9CHT

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16558	AZUL	29 → 83	Amino-terminal Zinc-binding domain of ubiquitin ligase E3A	Domain
PF00632	HECT	576 → 875	HECT-domain (ubiquitin-transferase)	Domain

Sequence

MEKLHQCYWKSGEPQSDDIEASRMKRAAAKHLIERYYHQLTEGCGNEACTNEFCASCPTF
LRMDNNAAAIKALELYKINAKLCDPHPSKKGASSAYLENSKGAPNNSCSEIKMNKKGARI
DFKDVTYLTEEKVYEILELCREREDYSPLIRVIGRVFSSAEALVQSFRKVKQHTKEELKS
LQAKDEDKDEDEKEKAACSAAAMEEDSEASSSRIGDSSQGDNNLQKLGPDDVSVDIDAIR
RVYTRLLSNEKIETAFLNALVYLSPNVECDLTYHNVYSRDPNYLNLFIIVMENRNLHSPE
YLEMALPLFCKAMSKLPLAAQGKLIRLWSKYNADQIRRMMETFQQLITYKVISNEFNSRN
LVNDDDAIVAASKCLKMVYYANVVGGEVDTNHNEEDDEEPIPESSELTLQELLGEERRNK
KGPRVDPLETELGVKTLDCRKPLIPFEEFINEPLNEVLEMDKDYTFFKVETENKFSFMTC
PFILNAVTKNLGLYYDNRIRMYSERRITVLYSLVQGQQLNPYLRLKVRRDHIIDDALVRL
EMIAMENPADLKKQLYVEFEGEQGVDEGGVSKEFFQLVVEEIFNPDIGMFTYDESTKLFW
FNPSSFETEGQFTLIGIVLGLAIYNNCILDVHFPMVVYRKLMGKKGTFRDLGDSHPVLYQ
SLKDLLEYEGNVEDDMMITFQISQTDLFGNPMMYDLKENGDKIPITNENRKEFVNLYSDY
ILNKSVEKQFKAFRRGFHMVTNESPLKYLFRPEEIELLICGSRNLDFQALEETTEYDGGY
TRDSVLIREFWEIVHSFTDEQKRLFLQFTTGTDRAPVGGLGKLKMIIAKNGPDTERLPTS
HTCFNVLLLPEYSSKEKLKERLLKAITYAKGFGML

Sequence length

875

Interactions

View interactions

	KEGG		Reactome
	Ubiquitin mediated proteolysis Human papillomavirus infection Viral carcinogenesis		Antigen processing: Ubiquitination & Proteasome degradation

Associated diseases

Show/Hide Causal Diseases (12)

Causal
Disease name	Disease term	dbSNP ID	References
Angelman syndrome	Angelman Syndrome, Angelman syndrome due to a point mutation, Angelman syndrome due to imprinting defect in 15q11-q13, Angelman syndrome due to paternal uniparental disomy of chromosome 15, Angelman syndrome due to maternal 15q11q13 deletion	rs111033595, rs111033596, rs111033597, rs2147483647, rs28934904, rs267608434, rs28935468, rs61748396, rs398124440, rs587780565, rs587780566, rs587780567, rs587780568, rs587780569, rs587780570, rs587780571, rs587780572, rs587780573, rs587780574, rs587780575, rs587780576, rs587780577, rs587780578, rs587780579, rs587780580, rs76794400, rs587780581, rs587780582, rs587780583, rs587780584, rs587780585, rs63749748, rs61754453, rs267608546, rs587781190, rs587781191, rs587781192, rs587781193, rs587781194, rs587781195, rs587781196, rs587781197, rs587781198, rs587781199, rs587781200, rs587781201, rs587781202, rs587781203, rs587781204, rs587781205, rs587781206, rs587781207, rs587781208, rs587781209, rs587781210, rs587781211, rs587781212, rs587781213, rs587781214, rs587781215, rs587781216, rs587781217, rs587781218, rs587781219, rs587781220, rs587781221, rs587781222, rs587781223, rs587781224, rs587781225, rs1555379745, rs587781226, rs587781227, rs1555379684, rs587781228, rs587781229, rs587781231, rs587781232, rs587781233, rs587781234, rs587781235, rs587781236, rs587781237, rs587781238, rs587781239, rs587781240, rs587781241, rs587781242, rs587781243, rs587781244, rs587783097, rs587784526, rs587784520, rs587782919, rs587784519, rs587784518, rs587784516, rs587784515, rs587784514, rs587784513, rs587784512, rs587784509, rs587784508, rs587784534, rs587784533, rs587784532, rs587784531, rs587784530, rs587784529, rs1557135251, rs863225070, rs863225068, rs756564767, rs797046088, rs1555379800, rs587781230, rs797046087, rs797046086, rs797046085, rs797046084, rs863224940, rs864309508, rs864309506, rs886039516, rs886041603, rs1057519062, rs1064792950, rs1064795001, rs1064795012, rs1064793307, rs1555399937, rs1490279918, rs1555380809, rs1555391286, rs1555400239, rs1555393242, rs1566954070, rs1566959617, rs1566961418, rs1595375255, rs1595375630, rs1595804239, rs1207660411, rs1595362860, rs1595572384, rs1595591164, rs997044541, rs2074508602, rs2080231132, rs2080238010, rs1891450501	27174604, 9887341, 25212744, 24796722, 20034088, 14981718, 9288087, 29188609, 8988171, 24385930, 18500341, 8988172, 9808466, 15878204, 19213023, 11748306, 9585605, 26993267, 26255772
Apraxia	Apraxias	rs121908377, rs121908378, rs1135401820, rs1178491246, rs1584969672
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs120074176, rs786205019
Autism	Autistic Disorder	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	11543639, 19404257, 20609483
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
Epilepsy	Epilepsy, Epilepsy, Cryptogenic, Awakening Epilepsy	rs113994140, rs119454947, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs1805032, rs387906420, rs121917752, rs121918622, rs121434579, rs1581220270, rs281865564, rs387907313, rs397514564, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777363, rs587777364, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs1554169267, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532	15878204
Mental retardation	Severe intellectual disability, Intellectual Disability	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
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Obesity	Obesity	rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Show/Hide Unknown Diseases (18)

Unknown
Disease name	Disease term	dbSNP ID	References
15q11q13 microduplication syndrome	15q11q13 microduplication syndrome, Duplication 15q11-q13 Syndrome	rs1057522609	25884337
Brachycephaly	Brachycephaly
Camptodactyly of fingers	Clinodactyly of the 5th finger
Cerebral cortical atrophy	Cerebral cortical atrophy
Congenital epicanthus	Congenital Epicanthus
Dwarfism	Dwarfism
Dysmorphic features	Dysmorphic features		22670133, 19213023, 24876791, 25212744, 26219744, 8988171, 17940072, 15263005, 25884337, 2309781, 17765640, 16470747
Exotropia	Exotropia
Hypopigmentation disorder	Hypopigmentation disorder
Hypoplasia of the maxilla	Hypoplasia of the maxilla
Macroglossia	Macroglossia
Macrostomia	Macrostomia
Malocclusion	Class III malocclusion
Motor delay	Clumsiness - motor delay
Movement disorders	Movement Disorders		26219744, 25212744, 17765640, 16470747, 19213023, 17940072, 22670133, 2309781, 25884337, 15263005, 24876791, 8988171
Obsessive-compulsive disorder	Obsessive compulsive behavior
Strabismus	Strabismus
Syndactyly of fingers	Syndactyly of fingers

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412