Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	3097
Gene name	HIVEP zinc finger 2
Gene symbol	HIVEP2
Synonyms (NCBI Gene)	HIV-EP2MBP-2MIBP1MRD43SHN2ZAS2ZNF40B
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,

Show/Hide all (21)

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

191

Show/Hide all (191)

miRTarBase ID	miRNA	Experiments	Reference
MIRT000974	hsa-miR-155-5p	Luciferase reporter assay	18367535
MIRT000974	hsa-miR-155-5p	Luciferase reporter assayqRT-PCRWestern 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

Show/Hide all (11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	2022670, 2247438
GO:0005515	Function	Protein binding	IPI	20936779, 28514442, 33961781, 36931259
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
143054	4921	ENSG00000010818

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

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Angelman syndrome-like	Pathogenic	rs1554275163, rs1582843150	RCV000852329 RCV000852369	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HIVEP2-related disorder	Pathogenic; Likely pathogenic	rs869312847, rs2482796579	RCV000509366 RCV004536718	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic; Likely pathogenic	rs869312841, rs1774993424, rs1775510548	RCV004798812 RCV001260723 RCV001260724	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, autosomal dominant 43	Pathogenic; Likely pathogenic	rs2114653975, rs2114611238, rs2114611687, rs2114611483, rs2482839679, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs878853251, rs878853269, rs2482859580, rs2482811651 View all (16 more)	RCV001542656 RCV001725794 RCV002250042 RCV002274270 RCV002795914 View all (26 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental delay	Pathogenic	rs2114664519	RCV002274343	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (28)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital ocular coloboma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 13	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLSTONES	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HIVEP2-related syndromic intellectual disability	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 43	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability, autosomal dominant 13	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (36)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anxiety	Anxiety disorder	Pubtator	26153216, 35052433	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	32119686	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	35052433	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	35052433	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal dominant non-syndromic intellectual disability	Non-Syndromic Intellectual Disability	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	15868437		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	27003583	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	27003583	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	27003583, 31207095		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	BEFREE	24158731		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	BEFREE	27003583		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	26153216	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	26153216, 27003583, 29233179, 30285890, 31207095		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	26153216, 27003583	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	26350204		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	35535739	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15868437		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24158731		★★★★★ ★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory disorders	Pubtator	26153216	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 43	Mental retardation	GENOMICS_ENGLAND_DG	26350204		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 43	Mental retardation	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL DOMINANT 43	Mental retardation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	22294689, 23020937, 26153216, 27003583		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	CTD_human_DG	16214533		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	26133963, 29233179, 30285890		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37800836	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom macroglobulinemia	Pubtator	24366360	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

HIVEP2 (HIVEP zinc finger 2)