HIVEP2 (HIVEP zinc finger 2)

Gene

• Entrez ID: 3097
• Gene name: HIVEP zinc finger 2
• Gene symbol: HIVEP2
• Synonyms (NCBI Gene): HIV-EP2, MBP-2, MIBP1, MRD43, SHN2, ZAS2, ZNF40B
• Disease Acronyms (UniProt): MRD43
• Chromosome: 6
• Chromosome location: 6q24.2
• Summary: This gene encodes a member of a family of closely related, large, zinc finger-containing transcription factors. The encoded protein regulates transcription by binding to regulatory regions of various cellular and viral genes that maybe involved in growth,

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs373421716	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs761993070	C>A,G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs869312841	G>A	Pathogenic	Stop gained, coding sequence variant
rs869312842	G>A	Pathogenic	Stop gained, coding sequence variant
rs869312843	C>A	Pathogenic	Stop gained, coding sequence variant
rs869312844	->C	Pathogenic	Frameshift variant, coding sequence variant
rs869312847	C>A	Not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs878853251	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs878853269	G>A	Pathogenic	Stop gained, coding sequence variant
rs1064795825	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1064796034	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554274371	G>A	Pathogenic	Coding sequence variant, stop gained
rs1554275163	G>A	Pathogenic	Coding sequence variant, stop gained
rs1562493608	G>A	Pathogenic	Coding sequence variant, stop gained
rs1562505335	G>A	Pathogenic	Coding sequence variant, stop gained
rs1562505675	->TGACTGTCCATGTGCATGATCTGTGGCTGGGC	Pathogenic	Coding sequence variant, frameshift variant
rs1582831184	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1582831406	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1582842042	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1582842733	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1582843150	CT>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000974	hsa-miR-155-5p	Luciferase reporter assay	18367535
MIRT000974	hsa-miR-155-5p	Luciferase reporter assay, qRT-PCR, Western blot	20427544
MIRT020335	hsa-miR-130b-3p	Sequencing	20371350
MIRT000974	hsa-miR-155-5p	Reporter assay;Other	20584899
MIRT041806	hsa-miR-484	CLASH	23622248
MIRT040488	hsa-miR-598-3p	CLASH	23622248
MIRT536875	hsa-miR-302a-3p	PAR-CLIP	22012620
MIRT536874	hsa-miR-302b-3p	PAR-CLIP	22012620
MIRT536873	hsa-miR-302d-3p	PAR-CLIP	22012620
MIRT536872	hsa-miR-302e	PAR-CLIP	22012620
MIRT536871	hsa-miR-520a-3p	PAR-CLIP	22012620
MIRT536870	hsa-miR-373-3p	PAR-CLIP	22012620
MIRT536869	hsa-miR-520b	PAR-CLIP	22012620
MIRT536868	hsa-miR-520e	PAR-CLIP	22012620
MIRT536867	hsa-miR-372-3p	PAR-CLIP	22012620
MIRT536866	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT536865	hsa-miR-520d-3p	PAR-CLIP	22012620
MIRT536864	hsa-miR-520c-3p	PAR-CLIP	22012620
MIRT536863	hsa-miR-4662a-3p	PAR-CLIP	22012620
MIRT536862	hsa-miR-519a-3p	PAR-CLIP	22012620
MIRT536861	hsa-miR-519b-3p	PAR-CLIP	22012620
MIRT536860	hsa-miR-519c-3p	PAR-CLIP	22012620
MIRT536859	hsa-miR-5700	PAR-CLIP	22012620
MIRT536858	hsa-miR-5684	PAR-CLIP	22012620
MIRT536857	hsa-miR-298	PAR-CLIP	22012620
MIRT440502	hsa-miR-136-5p	HITS-CLIP	24374217
MIRT439126	hsa-miR-10b-5p	3'LIFE	25074381
MIRT440502	hsa-miR-136-5p	HITS-CLIP	24374217
MIRT439126	hsa-miR-10b-5p	3'LIFE	25074381
MIRT536875	hsa-miR-302a-3p	PAR-CLIP	22012620
MIRT536874	hsa-miR-302b-3p	PAR-CLIP	22012620
MIRT536873	hsa-miR-302d-3p	PAR-CLIP	22012620
MIRT536872	hsa-miR-302e	PAR-CLIP	22012620
MIRT536871	hsa-miR-520a-3p	PAR-CLIP	22012620
MIRT536870	hsa-miR-373-3p	PAR-CLIP	22012620
MIRT536869	hsa-miR-520b	PAR-CLIP	22012620
MIRT536868	hsa-miR-520e	PAR-CLIP	22012620
MIRT536867	hsa-miR-372-3p	PAR-CLIP	22012620
MIRT536866	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT536865	hsa-miR-520d-3p	PAR-CLIP	22012620
MIRT536864	hsa-miR-520c-3p	PAR-CLIP	22012620
MIRT536863	hsa-miR-4662a-3p	PAR-CLIP	22012620
MIRT536862	hsa-miR-519a-3p	PAR-CLIP	22012620
MIRT536861	hsa-miR-519b-3p	PAR-CLIP	22012620
MIRT536860	hsa-miR-519c-3p	PAR-CLIP	22012620
MIRT536859	hsa-miR-5700	PAR-CLIP	22012620
MIRT536858	hsa-miR-5684	PAR-CLIP	22012620
MIRT536857	hsa-miR-298	PAR-CLIP	22012620
MIRT1047980	hsa-miR-302a	CLIP-seq
MIRT1047981	hsa-miR-302b	CLIP-seq
MIRT1047982	hsa-miR-302c	CLIP-seq
MIRT1047983	hsa-miR-302d	CLIP-seq
MIRT1047984	hsa-miR-3129-3p	CLIP-seq
MIRT1047985	hsa-miR-338-3p	CLIP-seq
MIRT1047986	hsa-miR-372	CLIP-seq
MIRT1047987	hsa-miR-373	CLIP-seq
MIRT1047988	hsa-miR-4530	CLIP-seq
MIRT1047989	hsa-miR-501-5p	CLIP-seq
MIRT1047990	hsa-miR-519a	CLIP-seq
MIRT1047991	hsa-miR-545	CLIP-seq
MIRT1549506	hsa-miR-1272	CLIP-seq
MIRT1549507	hsa-miR-133a	CLIP-seq
MIRT1549508	hsa-miR-133b	CLIP-seq
MIRT1549509	hsa-miR-2052	CLIP-seq
MIRT1549510	hsa-miR-3155	CLIP-seq
MIRT1549511	hsa-miR-3155b	CLIP-seq
MIRT1549512	hsa-miR-433	CLIP-seq
MIRT1922770	hsa-miR-136	CLIP-seq
MIRT1922770	hsa-miR-136	CLIP-seq
MIRT2010885	hsa-miR-154	CLIP-seq
MIRT2010886	hsa-miR-3671	CLIP-seq
MIRT2010887	hsa-miR-4775	CLIP-seq
MIRT2010888	hsa-miR-548k	CLIP-seq
MIRT2010889	hsa-miR-607	CLIP-seq
MIRT1922770	hsa-miR-136	CLIP-seq
MIRT2243112	hsa-miR-3136-5p	CLIP-seq
MIRT2243113	hsa-miR-3613-3p	CLIP-seq
MIRT2243114	hsa-miR-3653	CLIP-seq
MIRT2243115	hsa-miR-3658	CLIP-seq
MIRT2243116	hsa-miR-3977	CLIP-seq
MIRT2243117	hsa-miR-4424	CLIP-seq
MIRT2243118	hsa-miR-4439	CLIP-seq
MIRT2243119	hsa-miR-4468	CLIP-seq
MIRT2243120	hsa-miR-4511	CLIP-seq
MIRT2243121	hsa-miR-4513	CLIP-seq
MIRT2243122	hsa-miR-4709-5p	CLIP-seq
MIRT2243123	hsa-miR-503	CLIP-seq
MIRT2243124	hsa-miR-548b-3p	CLIP-seq
MIRT2243125	hsa-miR-605	CLIP-seq
MIRT2243112	hsa-miR-3136-5p	CLIP-seq
MIRT2243114	hsa-miR-3653	CLIP-seq
MIRT2243115	hsa-miR-3658	CLIP-seq
MIRT2243117	hsa-miR-4424	CLIP-seq
MIRT2243118	hsa-miR-4439	CLIP-seq
MIRT2243120	hsa-miR-4511	CLIP-seq
MIRT2243121	hsa-miR-4513	CLIP-seq
MIRT2243124	hsa-miR-548b-3p	CLIP-seq
MIRT2429593	hsa-miR-3163	CLIP-seq
MIRT2429594	hsa-miR-320a	CLIP-seq
MIRT2429595	hsa-miR-320b	CLIP-seq
MIRT2429596	hsa-miR-320c	CLIP-seq
MIRT2429597	hsa-miR-320d	CLIP-seq
MIRT2429598	hsa-miR-4328	CLIP-seq
MIRT2429599	hsa-miR-4429	CLIP-seq
MIRT2429600	hsa-miR-4718	CLIP-seq
MIRT2429601	hsa-miR-548c-3p	CLIP-seq
MIRT2546294	hsa-miR-1236	CLIP-seq
MIRT2546295	hsa-miR-130a	CLIP-seq
MIRT2546296	hsa-miR-130b	CLIP-seq
MIRT1922770	hsa-miR-136	CLIP-seq
MIRT2546297	hsa-miR-301a	CLIP-seq
MIRT2546298	hsa-miR-301b	CLIP-seq
MIRT1047980	hsa-miR-302a	CLIP-seq
MIRT1047981	hsa-miR-302b	CLIP-seq
MIRT1047982	hsa-miR-302c	CLIP-seq
MIRT1047983	hsa-miR-302d	CLIP-seq
MIRT2546299	hsa-miR-3117-5p	CLIP-seq
MIRT2546300	hsa-miR-3127-3p	CLIP-seq
MIRT1047984	hsa-miR-3129-3p	CLIP-seq
MIRT2546301	hsa-miR-3150a-3p	CLIP-seq
MIRT2546302	hsa-miR-3157-3p	CLIP-seq
MIRT2429593	hsa-miR-3163	CLIP-seq
MIRT2546303	hsa-miR-3175	CLIP-seq
MIRT2429594	hsa-miR-320a	CLIP-seq
MIRT2429595	hsa-miR-320b	CLIP-seq
MIRT2429596	hsa-miR-320c	CLIP-seq
MIRT2429597	hsa-miR-320d	CLIP-seq
MIRT2546304	hsa-miR-3591-5p	CLIP-seq
MIRT2546305	hsa-miR-3666	CLIP-seq
MIRT2546306	hsa-miR-3679-3p	CLIP-seq
MIRT2546307	hsa-miR-3692	CLIP-seq
MIRT1047986	hsa-miR-372	CLIP-seq
MIRT1047987	hsa-miR-373	CLIP-seq
MIRT2546308	hsa-miR-375	CLIP-seq
MIRT2546309	hsa-miR-3973	CLIP-seq
MIRT2546310	hsa-miR-4273	CLIP-seq
MIRT2546311	hsa-miR-4295	CLIP-seq
MIRT2546312	hsa-miR-4307	CLIP-seq
MIRT2429598	hsa-miR-4328	CLIP-seq
MIRT2429599	hsa-miR-4429	CLIP-seq
MIRT2546313	hsa-miR-4446-5p	CLIP-seq
MIRT2546314	hsa-miR-4473	CLIP-seq
MIRT2546315	hsa-miR-4487	CLIP-seq
MIRT2546316	hsa-miR-454	CLIP-seq
MIRT2546317	hsa-miR-4667-5p	CLIP-seq
MIRT2546318	hsa-miR-4671-3p	CLIP-seq
MIRT2546319	hsa-miR-4677-5p	CLIP-seq
MIRT2546320	hsa-miR-4700-5p	CLIP-seq
MIRT2243122	hsa-miR-4709-5p	CLIP-seq
MIRT2429600	hsa-miR-4718	CLIP-seq
MIRT2546321	hsa-miR-4731-5p	CLIP-seq
MIRT2546322	hsa-miR-4780	CLIP-seq
MIRT2546323	hsa-miR-488	CLIP-seq
MIRT2546324	hsa-miR-494	CLIP-seq
MIRT1047989	hsa-miR-501-5p	CLIP-seq
MIRT1047990	hsa-miR-519a	CLIP-seq
MIRT2546325	hsa-miR-532-3p	CLIP-seq
MIRT2546326	hsa-miR-548a-5p	CLIP-seq
MIRT2546327	hsa-miR-548ab	CLIP-seq
MIRT2546328	hsa-miR-548ak	CLIP-seq
MIRT2546329	hsa-miR-548b-5p	CLIP-seq
MIRT2429601	hsa-miR-548c-3p	CLIP-seq
MIRT2546330	hsa-miR-548c-5p	CLIP-seq
MIRT2546331	hsa-miR-548d-5p	CLIP-seq
MIRT2546332	hsa-miR-548h	CLIP-seq
MIRT2546333	hsa-miR-548i	CLIP-seq
MIRT2546334	hsa-miR-548j	CLIP-seq
MIRT2546335	hsa-miR-548w	CLIP-seq
MIRT2546336	hsa-miR-548y	CLIP-seq
MIRT2546337	hsa-miR-559	CLIP-seq
MIRT2546338	hsa-miR-662	CLIP-seq
MIRT2546339	hsa-miR-874	CLIP-seq
MIRT2546340	hsa-miR-938	CLIP-seq
MIRT2546341	hsa-miR-939	CLIP-seq
MIRT1922770	hsa-miR-136	CLIP-seq
MIRT1047980	hsa-miR-302a	CLIP-seq
MIRT1047981	hsa-miR-302b	CLIP-seq
MIRT1047982	hsa-miR-302c	CLIP-seq
MIRT1047983	hsa-miR-302d	CLIP-seq
MIRT1047984	hsa-miR-3129-3p	CLIP-seq
MIRT2546301	hsa-miR-3150a-3p	CLIP-seq
MIRT2546303	hsa-miR-3175	CLIP-seq
MIRT1047986	hsa-miR-372	CLIP-seq
MIRT1047987	hsa-miR-373	CLIP-seq
MIRT2546315	hsa-miR-4487	CLIP-seq
MIRT2546317	hsa-miR-4667-5p	CLIP-seq
MIRT2546320	hsa-miR-4700-5p	CLIP-seq
MIRT2546321	hsa-miR-4731-5p	CLIP-seq
MIRT1047989	hsa-miR-501-5p	CLIP-seq
MIRT1047990	hsa-miR-519a	CLIP-seq
MIRT2546341	hsa-miR-939	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0003677	Function	DNA binding	TAS	2022670, 2247438
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005654	Component	Nucleoplasm	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 143054
• HGNC: 4921
• e!Ensembl: ENSG00000010818

Protein

• UniProt ID: P31629
• Protein name: Transcription factor HIVEP2 (Human immunodeficiency virus type I enhancer-binding protein 2) (HIV-EP2) (MHC-binding protein 2) (MBP-2)
• Protein function: This protein specifically binds to the DNA sequence 5'-GGGACTTTCC-3' which is found in the enhancer elements of numerous viral promoters such as those of SV40, CMV, or HIV1. In addition, related sequences are found in the enhancer elements of a
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00096	zf-C2H2	189 → 211	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	1799 → 1821	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	1827 → 1851	Zinc finger, C2H2 type	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in brain and skeletal muscle. {ECO:0000269|PubMed:10207097}.
• Sequence:

  MDTGDTALGQKATSRSGETDKASGRWRQEQSAVIKMSTFGSHEGQRQPQIEPEQIGNTAS
  AQLFGSGKLASPSEVVQQVAEKQYPPHRPSPYSCQHSLSFPQHSLPQGVMHSTKPHQSLE
  GPPWLFPGPLPSVASEDLFPFPIHGHSGGYPRKKISSLNPAYSQYSQKSIEQAEEAHKKE
  HKPKKPGKYICPYCSRACAKPSVLKKHIRSHTGERPYPCIPCGFSFKTKSNLYKHRKSHA
  HAIKAGLVPFTESAVSKLDLEAGFIDVEAEIHSDGEQSTDTDEESSLFAEASDKMSPGPP
  IPLDIASRGGYHGSLEESLGGPMKVPILIIPKSGIPLPNESSQYIGPDMLPNPSLNTKAD
  DSHTVKQKLALRLSEKKGQDSEPSLNLLSPHSKGSTDSGYFSRSESAEQQISPPNTNAKS
  YEEIIFGKYCRLSPRNALSVTTTSQERAAMGRKGIMEPLPHVNTRLDVKMFEDPVSQLIP
  SKGDVDPSQTSMLKSTKFNSESRQPQIIPSSIRNEGKLYPANFQGSNPVLLEAPVDSSPL
  IRSNSVPTSSATNLTIPPSLRGSHSFDERMTGSDDVFYPGTVGIPPQRMLRRQAAFELPS
  VQEGHVEVEHHGRMLKGISSSSLKEKKLSPGDRVGYDYDVCRKPYKKWEDSETPKQNYRD
  ISCLSSLKHGGEYFMDPVVPLQGVPSMFGTTCENRKRRKEKSVGDEEDTPMICSSIVSTP
  VGIMASDYDPKLQMQEGVRSGFAMAGHENLSHGHTERFDPCRPQLQPGSPSLVSEESPSA
  IDSDKMSDLGGRKPPGNVISVIQHTNSLSRPNSFERSESAELVACTQDKAPSPSETCDSE
  ISEAPVSPEWAPPGDGAESGGKPSPSQQVQQQSYHTQPRLVRQHNIQVPEIRVTEEPDKP
  EKEKEAQSKEPEKPVEEFQWPQRSETLSQLPAEKLPPKKKRLRLADMEHSSGESSFESTG
  TGLSRSPSQESNLSHSSSFSMSFEREETSKLSALPKQDEFGKHSEFLTVPAGSYSLSVPG
  HHHQKEMRRCSSEQMPCPHPAEVPEVRSKSFDYGNLSHAPVSGAAASTVSPSRERKKCFL
  VRQASFSGSPEISQGEVGMDQSVKQEQLEHLHAGLRSGWHHGPPAVLPPLQQEDPGKQVA
  GPCPPLSSGPLHLAQPQIMHMDSQESLRNPLIQPTSYMTSKHLPEQPHLFPHQETIPFSP
  IQNALFQFQYPTVCMVHLPAQQPPWWQAHFPHPFAQHPQKSYGKPSFQTEIHSSYPLEHV
  AEHTGKKPAEYAHTKEQTYPCYSGASGLHPKNLLPKFPSDQSSKSTETPSEQVLQEDFAS
  ANAGSLQSLPGTVVPVRIQTHVPSYGSVMYTSISQILGQNSPAIVICKVDENMTQRTLVT
  NAAMQGIGFNIAQVLGQHAGLEKYPIWKAPQTLPLGLESSIPLCLPSTSDSVATLGGSKR
  MLSPASSLELFMETKQQKRVKEEKMYGQIVEELSAVELTNSDIKKDLSRPQKPQLVRQGC
  ASEPKDGLQSGSSSFSSLSPSSSQDYPSVSPSSREPFLPSKEMLSGSRAPLPGQKSSGPS
  ESKESSDELDIDETASDMSMSPQSSSLPAGDGQLEEEGKGHKRPVGMLVRMASAPSGNVA
  DSTLLLTDMADFQQILQFPSLRTTTTVSWCFLNYTKPNYVQQATFKSSVYASWCISSCNP
  NPSGLNTKTTLALLRSKQKITAEIYTLAAMHRPGTGKLTSSSAWKQFTQMKPDASFLFGS
  KLERKLVGNILKERGKGDIHGDKDIGSKQTEPIRIKIFEGGYKSNEDYVYVRGRGRGKYI
  CEECGIRCKKPSMLKKHIRTHTDVRPYVCKLCNFAFKTKGNLTKHMKSKAHMKKCLELGV
  SMTSVDDTETEEAENLEDLHKAAEKHSMSSISTDHQFSDAEESDGEDGDDNDDDDEDEDD
  FDDQGDLTPKTRSRSTSPQPPRFSSLPVNVGAVPHGVPSDSSLGHSSLISYLVTLPSIRV
  TQLMTPSDSCEDTQMTEYQRLFQSKSTDSEPDKDRLDIPSCMDEECMLPSEPSSSPRDFS
  PSSHHSSPGYDSSPCRDNSPKRYLIPKGDLSPRRHLSPRRDLSPMRHLSPRKEAALRREM
  SQRDVSPRRHLSPRRPVSPGKDITARRDLSPRRERRYMTTIRAPSPRRALYHNPPLSMGQ
  YLQAEPIVLGPPNLRRGLPQVPYFSLYGDQEGAYEHPGSSLFPEGPNDYVFSHLPLHSQQ
  QVRAPIPMVPVGGIQMVHSMPPALSSLHPSPTLPLPMEGFEEKKGASGESFSKDPYVLSK
  QHEKRGPHALQSSGPPSTPSSPRLLMKQSTSEDSLNATEREQEENIQTCTKAIASLRIAT
  EEAALLGPDQPARVQEPHQNPLGSAHVSIRHFSRPEPGQPCTSATHPDLHDGEKDNFGTS
  QTPLAHSTFYSKSCVDDKQLDFHSSKELSSSTEESKDPSSEKSQLH

• Sequence length: 2446

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Autism	Autistic behavior	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537	29212778
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	30595370
Mental retardation	Intellectual Disability, MENTAL RETARDATION, AUTOSOMAL DOMINANT 43	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	26350204
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	23020937, 26153216, 27003583, 22294689
Non-syndromic intellectual disability	Autosomal dominant non-syndromic intellectual disability	rs121918049, rs1135401819, rs1553638614, rs1561846159, rs1564493599, rs1563978827

Unknown
Disease term	Disease name	Evidence	References	Source
Non-Syndromic Intellectual Disability	autosomal dominant non-syndromic intellectual disability			GenCC
Diabetes	Diabetes			GWAS
Bipolar Disorder	Bipolar Disorder			GWAS
Metabolic Syndrome	Metabolic Syndrome			GWAS
Gastroesophageal Reflux Disease	Gastroesophageal Reflux Disease			GWAS
Mental Depression	Mental Depression			GWAS
Asthma	Asthma			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Anxiety	Associate	26153216, 35052433
Asthma	Associate	32119686
Attention Deficit Disorder with Hyperactivity	Associate	35052433
Autism Spectrum Disorder	Associate	35052433
Congenital Abnormalities	Associate	27003583
Developmental Disabilities	Associate	27003583
Hyperkinesis	Associate	26153216
Intellectual Disability	Associate	26153216, 27003583
Leukemia Myeloid Acute	Associate	35535739
Memory Disorders	Associate	26153216
Personality Disorders	Associate	26153216
Rare Diseases	Associate	35052433
Stomach Neoplasms	Associate	37800836
Waldenstrom Macroglobulinemia	Associate	24366360