DGCR2 (DiGeorge syndrome critical region gene 2)

Gene

• Entrez ID: 9993
• Gene name: DiGeorge syndrome critical region gene 2
• Gene symbol: DGCR2
• Synonyms (NCBI Gene): DGS-C, IDD, LAN, SEZ-12
• Disease Acronyms (UniProt): IDD
• Chromosome: 22
• Chromosome location: 22q11.21
• Summary: Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004236	hsa-miR-346	Microarray	16822819
MIRT046368	hsa-miR-23b-3p	CLASH	23622248
MIRT042326	hsa-miR-484	CLASH	23622248
MIRT933669	hsa-miR-1299	CLIP-seq
MIRT933670	hsa-miR-199a-3p	CLIP-seq
MIRT933671	hsa-miR-199b-3p	CLIP-seq
MIRT933672	hsa-miR-3129-5p	CLIP-seq
MIRT933673	hsa-miR-3160-3p	CLIP-seq
MIRT933674	hsa-miR-3171	CLIP-seq
MIRT933675	hsa-miR-3173-3p	CLIP-seq
MIRT933676	hsa-miR-3663-5p	CLIP-seq
MIRT933677	hsa-miR-3677-5p	CLIP-seq
MIRT933678	hsa-miR-3978	CLIP-seq
MIRT933679	hsa-miR-4428	CLIP-seq
MIRT933680	hsa-miR-4487	CLIP-seq
MIRT933681	hsa-miR-4499	CLIP-seq
MIRT933682	hsa-miR-4527	CLIP-seq
MIRT933683	hsa-miR-548u	CLIP-seq
MIRT933684	hsa-miR-558	CLIP-seq
MIRT933685	hsa-miR-875-3p	CLIP-seq
MIRT933686	hsa-miR-1200	CLIP-seq
MIRT933687	hsa-miR-1266	CLIP-seq
MIRT933688	hsa-miR-128	CLIP-seq
MIRT933669	hsa-miR-1299	CLIP-seq
MIRT933689	hsa-miR-1323	CLIP-seq
MIRT933690	hsa-miR-138	CLIP-seq
MIRT933691	hsa-miR-142-5p	CLIP-seq
MIRT933692	hsa-miR-1972	CLIP-seq
MIRT933670	hsa-miR-199a-3p	CLIP-seq
MIRT933671	hsa-miR-199b-3p	CLIP-seq
MIRT933693	hsa-miR-214	CLIP-seq
MIRT933694	hsa-miR-3065-3p	CLIP-seq
MIRT933695	hsa-miR-3120-3p	CLIP-seq
MIRT933696	hsa-miR-3126-5p	CLIP-seq
MIRT933672	hsa-miR-3129-5p	CLIP-seq
MIRT933697	hsa-miR-3144-5p	CLIP-seq
MIRT933673	hsa-miR-3160-3p	CLIP-seq
MIRT933674	hsa-miR-3171	CLIP-seq
MIRT933675	hsa-miR-3173-3p	CLIP-seq
MIRT933698	hsa-miR-3182	CLIP-seq
MIRT933699	hsa-miR-3191	CLIP-seq
MIRT933700	hsa-miR-3192	CLIP-seq
MIRT933701	hsa-miR-3194-3p	CLIP-seq
MIRT933702	hsa-miR-3199	CLIP-seq
MIRT933703	hsa-miR-338-3p	CLIP-seq
MIRT933704	hsa-miR-340	CLIP-seq
MIRT933705	hsa-miR-342-5p	CLIP-seq
MIRT933706	hsa-miR-3619-5p	CLIP-seq
MIRT933707	hsa-miR-3670	CLIP-seq
MIRT933677	hsa-miR-3677-5p	CLIP-seq
MIRT933708	hsa-miR-3688-3p	CLIP-seq
MIRT933709	hsa-miR-370	CLIP-seq
MIRT933710	hsa-miR-3908	CLIP-seq
MIRT933678	hsa-miR-3978	CLIP-seq
MIRT933711	hsa-miR-4270	CLIP-seq
MIRT933712	hsa-miR-4324	CLIP-seq
MIRT933713	hsa-miR-4419a	CLIP-seq
MIRT933679	hsa-miR-4428	CLIP-seq
MIRT933714	hsa-miR-4441	CLIP-seq
MIRT933715	hsa-miR-4463	CLIP-seq
MIRT933680	hsa-miR-4487	CLIP-seq
MIRT933716	hsa-miR-4494	CLIP-seq
MIRT933717	hsa-miR-4510	CLIP-seq
MIRT933718	hsa-miR-4518	CLIP-seq
MIRT933719	hsa-miR-4530	CLIP-seq
MIRT933720	hsa-miR-4639-3p	CLIP-seq
MIRT933721	hsa-miR-4651	CLIP-seq
MIRT933722	hsa-miR-4652-5p	CLIP-seq
MIRT933723	hsa-miR-4664-5p	CLIP-seq
MIRT933724	hsa-miR-4667-5p	CLIP-seq
MIRT933725	hsa-miR-4690-5p	CLIP-seq
MIRT933726	hsa-miR-4700-5p	CLIP-seq
MIRT933727	hsa-miR-4707-3p	CLIP-seq
MIRT933728	hsa-miR-4709-3p	CLIP-seq
MIRT933729	hsa-miR-4727-5p	CLIP-seq
MIRT933730	hsa-miR-4729	CLIP-seq
MIRT933731	hsa-miR-4731-5p	CLIP-seq
MIRT933732	hsa-miR-4740-5p	CLIP-seq
MIRT933733	hsa-miR-4742-5p	CLIP-seq
MIRT933734	hsa-miR-4763-5p	CLIP-seq
MIRT933735	hsa-miR-4769-3p	CLIP-seq
MIRT933736	hsa-miR-495	CLIP-seq
MIRT933737	hsa-miR-499a-5p	CLIP-seq
MIRT933738	hsa-miR-515-5p	CLIP-seq
MIRT933739	hsa-miR-544b	CLIP-seq
MIRT933740	hsa-miR-548o	CLIP-seq
MIRT933684	hsa-miR-558	CLIP-seq
MIRT933741	hsa-miR-596	CLIP-seq
MIRT933742	hsa-miR-608	CLIP-seq
MIRT933743	hsa-miR-668	CLIP-seq
MIRT933744	hsa-miR-761	CLIP-seq
MIRT933745	hsa-miR-766	CLIP-seq
MIRT933746	hsa-miR-802	CLIP-seq
MIRT933685	hsa-miR-875-3p	CLIP-seq
MIRT933747	hsa-miR-939	CLIP-seq
MIRT933687	hsa-miR-1266	CLIP-seq
MIRT1976373	hsa-miR-1915	CLIP-seq
MIRT933718	hsa-miR-4518	CLIP-seq
MIRT1976374	hsa-miR-101	CLIP-seq
MIRT1976375	hsa-miR-1207-5p	CLIP-seq
MIRT1976376	hsa-miR-1224-3p	CLIP-seq
MIRT1976377	hsa-miR-1260	CLIP-seq
MIRT1976378	hsa-miR-1260b	CLIP-seq
MIRT933687	hsa-miR-1266	CLIP-seq
MIRT933688	hsa-miR-128	CLIP-seq
MIRT1976379	hsa-miR-1280	CLIP-seq
MIRT1976380	hsa-miR-144	CLIP-seq
MIRT1976381	hsa-miR-1537	CLIP-seq
MIRT1976382	hsa-miR-1587	CLIP-seq
MIRT1976383	hsa-miR-187	CLIP-seq
MIRT1976384	hsa-miR-1913	CLIP-seq
MIRT1976373	hsa-miR-1915	CLIP-seq
MIRT1976385	hsa-miR-2467-3p	CLIP-seq
MIRT1976386	hsa-miR-3064-3p	CLIP-seq
MIRT1976387	hsa-miR-31	CLIP-seq
MIRT1976388	hsa-miR-3120-5p	CLIP-seq
MIRT1976389	hsa-miR-3125	CLIP-seq
MIRT1976390	hsa-miR-3158-5p	CLIP-seq
MIRT1976391	hsa-miR-3180-5p	CLIP-seq
MIRT1976392	hsa-miR-320e	CLIP-seq
MIRT1976393	hsa-miR-324-3p	CLIP-seq
MIRT1976394	hsa-miR-3616-3p	CLIP-seq
MIRT933707	hsa-miR-3670	CLIP-seq
MIRT1976395	hsa-miR-3678-3p	CLIP-seq
MIRT933708	hsa-miR-3688-3p	CLIP-seq
MIRT1976396	hsa-miR-3688-5p	CLIP-seq
MIRT1976397	hsa-miR-378g	CLIP-seq
MIRT1976398	hsa-miR-3916	CLIP-seq
MIRT1976399	hsa-miR-3921	CLIP-seq
MIRT1976400	hsa-miR-3941	CLIP-seq
MIRT1976401	hsa-miR-3974	CLIP-seq
MIRT933678	hsa-miR-3978	CLIP-seq
MIRT1976402	hsa-miR-409-3p	CLIP-seq
MIRT1976403	hsa-miR-4251	CLIP-seq
MIRT1976404	hsa-miR-4256	CLIP-seq
MIRT1976405	hsa-miR-4257	CLIP-seq
MIRT1976406	hsa-miR-4265	CLIP-seq
MIRT1976407	hsa-miR-4277	CLIP-seq
MIRT1976408	hsa-miR-4296	CLIP-seq
MIRT1976409	hsa-miR-4313	CLIP-seq
MIRT1976410	hsa-miR-4322	CLIP-seq
MIRT1976411	hsa-miR-4329	CLIP-seq
MIRT1976412	hsa-miR-4417	CLIP-seq
MIRT1976413	hsa-miR-4437	CLIP-seq
MIRT933680	hsa-miR-4487	CLIP-seq
MIRT1976414	hsa-miR-4492	CLIP-seq
MIRT1976415	hsa-miR-4498	CLIP-seq
MIRT933718	hsa-miR-4518	CLIP-seq
MIRT1976416	hsa-miR-4653-5p	CLIP-seq
MIRT1976417	hsa-miR-4656	CLIP-seq
MIRT1976418	hsa-miR-4667-3p	CLIP-seq
MIRT1976419	hsa-miR-4674	CLIP-seq
MIRT1976420	hsa-miR-4675	CLIP-seq
MIRT1976421	hsa-miR-4687-5p	CLIP-seq
MIRT1976422	hsa-miR-4691-3p	CLIP-seq
MIRT933728	hsa-miR-4709-3p	CLIP-seq
MIRT1976423	hsa-miR-4714-3p	CLIP-seq
MIRT1976424	hsa-miR-4722-3p	CLIP-seq
MIRT933729	hsa-miR-4727-5p	CLIP-seq
MIRT1976425	hsa-miR-4736	CLIP-seq
MIRT1976426	hsa-miR-4741	CLIP-seq
MIRT1976427	hsa-miR-4762-3p	CLIP-seq
MIRT1976428	hsa-miR-4762-5p	CLIP-seq
MIRT1976429	hsa-miR-4763-3p	CLIP-seq
MIRT933735	hsa-miR-4769-3p	CLIP-seq
MIRT1976430	hsa-miR-4786-3p	CLIP-seq
MIRT1976431	hsa-miR-539	CLIP-seq
MIRT1976432	hsa-miR-548ae	CLIP-seq
MIRT1976433	hsa-miR-548aj	CLIP-seq
MIRT1976434	hsa-miR-548am	CLIP-seq
MIRT1976435	hsa-miR-548x	CLIP-seq
MIRT1976436	hsa-miR-552	CLIP-seq
MIRT1976437	hsa-miR-603	CLIP-seq
MIRT1976438	hsa-miR-605	CLIP-seq
MIRT1976439	hsa-miR-760	CLIP-seq
MIRT1976440	hsa-miR-762	CLIP-seq
MIRT1976441	hsa-miR-765	CLIP-seq
MIRT1976442	hsa-miR-877	CLIP-seq
MIRT933687	hsa-miR-1266	CLIP-seq
MIRT2211849	hsa-miR-4272	CLIP-seq
MIRT933718	hsa-miR-4518	CLIP-seq
MIRT933738	hsa-miR-515-5p	CLIP-seq
MIRT1976375	hsa-miR-1207-5p	CLIP-seq
MIRT2211850	hsa-miR-1271	CLIP-seq
MIRT2211851	hsa-miR-182	CLIP-seq
MIRT1976373	hsa-miR-1915	CLIP-seq
MIRT933693	hsa-miR-214	CLIP-seq
MIRT1976388	hsa-miR-3120-5p	CLIP-seq
MIRT2211852	hsa-miR-3130-3p	CLIP-seq
MIRT2211853	hsa-miR-329	CLIP-seq
MIRT933706	hsa-miR-3619-5p	CLIP-seq
MIRT2211854	hsa-miR-362-3p	CLIP-seq
MIRT1976397	hsa-miR-378g	CLIP-seq
MIRT1976400	hsa-miR-3941	CLIP-seq
MIRT1976401	hsa-miR-3974	CLIP-seq
MIRT1976405	hsa-miR-4257	CLIP-seq
MIRT1976406	hsa-miR-4265	CLIP-seq
MIRT2211849	hsa-miR-4272	CLIP-seq
MIRT1976408	hsa-miR-4296	CLIP-seq
MIRT1976410	hsa-miR-4322	CLIP-seq
MIRT1976412	hsa-miR-4417	CLIP-seq
MIRT2211855	hsa-miR-4435	CLIP-seq
MIRT2211856	hsa-miR-4459	CLIP-seq
MIRT933725	hsa-miR-4690-5p	CLIP-seq
MIRT2211857	hsa-miR-4695-5p	CLIP-seq
MIRT1976425	hsa-miR-4736	CLIP-seq
MIRT1976429	hsa-miR-4763-3p	CLIP-seq
MIRT1976437	hsa-miR-603	CLIP-seq
MIRT933744	hsa-miR-761	CLIP-seq
MIRT2211858	hsa-miR-96	CLIP-seq
MIRT933702	hsa-miR-3199	CLIP-seq
MIRT933705	hsa-miR-342-5p	CLIP-seq
MIRT933679	hsa-miR-4428	CLIP-seq
MIRT933721	hsa-miR-4651	CLIP-seq
MIRT933723	hsa-miR-4664-5p	CLIP-seq
MIRT933742	hsa-miR-608	CLIP-seq
MIRT2386860	hsa-miR-615-5p	CLIP-seq
MIRT1976390	hsa-miR-3158-5p	CLIP-seq
MIRT2428220	hsa-miR-3166	CLIP-seq
MIRT2428221	hsa-miR-3622a-3p	CLIP-seq
MIRT2428222	hsa-miR-3622b-3p	CLIP-seq
MIRT2428223	hsa-miR-4715-3p	CLIP-seq
MIRT2428224	hsa-miR-4771	CLIP-seq
MIRT2515588	hsa-miR-103a	CLIP-seq
MIRT2515589	hsa-miR-107	CLIP-seq
MIRT2515590	hsa-miR-1184	CLIP-seq
MIRT2515591	hsa-miR-1193	CLIP-seq
MIRT2515592	hsa-miR-1245b-3p	CLIP-seq
MIRT2515593	hsa-miR-1245b-5p	CLIP-seq
MIRT2515594	hsa-miR-1288	CLIP-seq
MIRT933669	hsa-miR-1299	CLIP-seq
MIRT933690	hsa-miR-138	CLIP-seq
MIRT933693	hsa-miR-214	CLIP-seq
MIRT2515595	hsa-miR-3064-5p	CLIP-seq
MIRT2515596	hsa-miR-3142	CLIP-seq
MIRT933697	hsa-miR-3144-5p	CLIP-seq
MIRT933699	hsa-miR-3191	CLIP-seq
MIRT933701	hsa-miR-3194-3p	CLIP-seq
MIRT933702	hsa-miR-3199	CLIP-seq
MIRT933706	hsa-miR-3619-5p	CLIP-seq
MIRT933709	hsa-miR-370	CLIP-seq
MIRT2515597	hsa-miR-4267	CLIP-seq
MIRT2515598	hsa-miR-4418	CLIP-seq
MIRT933715	hsa-miR-4463	CLIP-seq
MIRT933716	hsa-miR-4494	CLIP-seq
MIRT2515599	hsa-miR-4650-5p	CLIP-seq
MIRT933722	hsa-miR-4652-5p	CLIP-seq
MIRT933724	hsa-miR-4667-5p	CLIP-seq
MIRT933725	hsa-miR-4690-5p	CLIP-seq
MIRT933726	hsa-miR-4700-5p	CLIP-seq
MIRT933734	hsa-miR-4763-5p	CLIP-seq
MIRT2515600	hsa-miR-4782-5p	CLIP-seq
MIRT2515601	hsa-miR-490-3p	CLIP-seq
MIRT933737	hsa-miR-499a-5p	CLIP-seq
MIRT2515602	hsa-miR-509-3-5p	CLIP-seq
MIRT2515603	hsa-miR-509-5p	CLIP-seq
MIRT2515604	hsa-miR-516b	CLIP-seq
MIRT2515605	hsa-miR-518a-5p	CLIP-seq
MIRT2515606	hsa-miR-527	CLIP-seq
MIRT2515607	hsa-miR-604	CLIP-seq
MIRT2515608	hsa-miR-647	CLIP-seq
MIRT933744	hsa-miR-761	CLIP-seq
MIRT933685	hsa-miR-875-3p	CLIP-seq
MIRT2515588	hsa-miR-103a	CLIP-seq
MIRT2515589	hsa-miR-107	CLIP-seq
MIRT2515590	hsa-miR-1184	CLIP-seq
MIRT2515591	hsa-miR-1193	CLIP-seq
MIRT2515593	hsa-miR-1245b-5p	CLIP-seq
MIRT2515594	hsa-miR-1288	CLIP-seq
MIRT933669	hsa-miR-1299	CLIP-seq
MIRT933690	hsa-miR-138	CLIP-seq
MIRT933693	hsa-miR-214	CLIP-seq
MIRT2515596	hsa-miR-3142	CLIP-seq
MIRT933697	hsa-miR-3144-5p	CLIP-seq
MIRT933699	hsa-miR-3191	CLIP-seq
MIRT933702	hsa-miR-3199	CLIP-seq
MIRT933706	hsa-miR-3619-5p	CLIP-seq
MIRT2515598	hsa-miR-4418	CLIP-seq
MIRT933715	hsa-miR-4463	CLIP-seq
MIRT933716	hsa-miR-4494	CLIP-seq
MIRT2515599	hsa-miR-4650-5p	CLIP-seq
MIRT933722	hsa-miR-4652-5p	CLIP-seq
MIRT933724	hsa-miR-4667-5p	CLIP-seq
MIRT933725	hsa-miR-4690-5p	CLIP-seq
MIRT933726	hsa-miR-4700-5p	CLIP-seq
MIRT2515600	hsa-miR-4782-5p	CLIP-seq
MIRT933737	hsa-miR-499a-5p	CLIP-seq
MIRT2515602	hsa-miR-509-3-5p	CLIP-seq
MIRT2515603	hsa-miR-509-5p	CLIP-seq
MIRT2515604	hsa-miR-516b	CLIP-seq
MIRT2515605	hsa-miR-518a-5p	CLIP-seq
MIRT2515606	hsa-miR-527	CLIP-seq
MIRT933744	hsa-miR-761	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0007155	Process	Cell adhesion	IEA
GO:0009887	Process	Animal organ morphogenesis	TAS	7655455
GO:0016020	Component	Membrane	IBA	21873635
GO:0016021	Component	Integral component of membrane	IEA
GO:0030246	Function	Carbohydrate binding	IEA
GO:0050890	Process	Cognition	IMP	23227193

Other IDs

• MIM: 600594
• HGNC: 2845
• e!Ensembl: ENSG00000070413

Protein

• UniProt ID: P98153
• Protein name: Integral membrane protein DGCR2/IDD
• Protein function: Putative adhesion receptor, that could be involved in cell-cell or cell-matrix interactions required for normal cell differentiation and migration.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00057	Ldl_recept_a	28 → 66	Low-density lipoprotein receptor domain class A	Repeat
  PF00059	Lectin_C	134 → 267	Lectin C-type domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Predominantly expressed in brain, heart, lung and fetal kidney. Low levels in liver and adult kidney.
• Sequence:

  MVPKADSGAFLLLFLLVLTVTEPLRPELRCNPGQFACRSGTIQCIPLPWQCDGWATCEDE
  SDEANCPEVTGEVRPHHGKEAVDPRQGRARGGDPSHFHAVNVAQPVRFSSFLGKCPTGWH
  HYEGTASCYRVYLSGENYWDAAQTCQRLNGSLATFSTDQELRFVLAQEWDQPERSFGWKD
  QRKLWVGYQYVITGRNRSLEGRWEVAFKGSSEVFLPPDPIFASAMSENDNVFCAQLQCFH
  FPTLRHHDLHSWHAESCYEKSSFLCKRSQTCVDIKDNVVDEGFYFTPKGDDPCLSCTCHG
  GEPEMCVAALCERPQGCQQYRKDPKECCKFMCLDPDGNSLFDSMASGMRLVVSCISSFLI
  LSLLLFMVHRLRQRRRERIESLIGANLHHFNLGRRIPGFDYGPDGFGTGLTPLHLSDDGE
  GGTFHFHDPPPPYTAYKYPDIGQPDDPPPPYEASIHPDSVFYDPADDDAFEPVEVSLPAP
  GDGGSEGALLRRLEQPLPTAGASLADLEDSADSSSALLVPPDPAQSGSTPAAEALPGGGR
  HSRSSLNTVV

• Sequence length: 550

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Conotruncal anomaly face syndrome	CONOTRUNCAL ANOMALY FACE SYNDROME	rs28939675, rs1601294362
Digeorge syndrome	DiGeorge Syndrome	rs587776825, rs1555895466
Mental retardation	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
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
Pierre-robin syndrome	Pierre Robin Syndrome	rs1057519389, rs1057518986
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	21822266
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Unknown
Disease term	Disease name	Evidence	References	Source
Specific learning disorder	Specific learning disability			ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Anemia hereditary spherocytic hemolytic	Associate	5790273
Death	Associate	24616583
Developmental Disabilities	Associate	21223309
Microcephaly	Associate	24767651
Neoplasms	Associate	24616583
Non Muscle Invasive Bladder Neoplasms	Associate	24616583