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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7466
Gene name	Wolframin ER transmembrane glycoprotein
Gene symbol	WFS1
Synonyms (NCBI Gene)	CTRCT41WFRSWFSWFSL
Chromosome	4
Chromosome location	4p16.1
Summary	This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram

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SNP ID	Visualize variation	Clinical significance	Consequence
rs6446482	C>A,G	Conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs10010131	A>G	Benign, pathogenic	Intron variant
rs28937890	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs28937891	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs28937892	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs28937893	G>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs28937894	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs28937895	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs35932623	C>T	Likely-benign, uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs55814513	G>A,T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs56002719	A>T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs56035336	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs61735401	C>T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs71524353	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Stop gained, missense variant, coding sequence variant
rs71524377	G>A,T	Likely-benign, pathogenic	Missense variant, coding sequence variant
rs71524381	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, coding sequence variant
rs71526461	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs71530923	C>G,T	Likely-pathogenic, pathogenic, not-provided	Stop gained, missense variant, coding sequence variant
rs71532863	G>A,T	Likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs71539657	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs71539668	G>A,T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs71539673	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs104893879	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs104893880	C>T	Pathogenic	Stop gained, coding sequence variant
rs104893881	C>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs104893882	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs104893883	T>C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs112871383	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs121912618	G>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs138232538	G>A,C	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs140115060	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs141177727	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, coding sequence variant
rs141585847	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs142668478	G>A,C,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs143064649	G>A	Pathogenic	Stop gained, coding sequence variant
rs144840779	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs145639028	G>A	Pathogenic	Missense variant, coding sequence variant
rs146132083	C>G,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs146670741	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs147834269	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Missense variant, coding sequence variant
rs149013740	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs149846741	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs199910987	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs199946797	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs200672755	G>A,C	Likely-pathogenic, pathogenic-likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs201239579	G>T	Pathogenic	Coding sequence variant, stop gained
rs369107336	C>A,G,T	Pathogenic, uncertain-significance, likely-benign	Coding sequence variant, stop gained, missense variant
rs377539343	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs387906930	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs387906931	G>A	Pathogenic	Coding sequence variant, missense variant
rs397517196	A>C	Pathogenic	Coding sequence variant, missense variant
rs397517197	ACG>-,ACGACG	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, inframe insertion, inframe deletion
rs398123066	A>G	Pathogenic	Coding sequence variant, missense variant
rs727503745	->CTGAAGG	Pathogenic	Frameshift variant, coding sequence variant
rs752461187	AAG>-,AAGAAG	Likely-pathogenic	Inframe deletion, coding sequence variant, inframe insertion
rs753237278	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs760171298	G>A,C,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs760337383	CTCT>-,CT	Pathogenic	Coding sequence variant, frameshift variant
rs760631912	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs760938537	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant, synonymous variant
rs771409809	C>T	Pathogenic	Coding sequence variant, stop gained
rs772392224	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs773312242	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs774265764	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs777580652	C>G,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs777663097	C>T	Pathogenic	Coding sequence variant, missense variant
rs781575919	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs797045075	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs797046112	TTC>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs797046113	CCTCTT>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs863224264	->TTGA	Uncertain-significance, likely-pathogenic	Stop gained, coding sequence variant, inframe insertion
rs863224265	GTC>-	Pathogenic	Coding sequence variant, inframe deletion
rs863224266	CG>TA	Likely-pathogenic	Coding sequence variant, missense variant
rs876657675	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs876657735	TTC>-	Pathogenic	Coding sequence variant, inframe deletion
rs886044563	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1064796781	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064797306	CGAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1131691259	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691778	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1191510461	G>A	Pathogenic	Splice donor variant
rs1281745640	G>A,T	Likely-pathogenic	Splice donor variant
rs1362648752	->GGCCGTCGCGAGGCTG	Pathogenic	Frameshift variant, coding sequence variant
rs1430938532	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs1443751733	T>G	Pathogenic	Stop gained, coding sequence variant
rs1553876668	C>A	Pathogenic	Stop gained, coding sequence variant
rs1553879004	G>A	Pathogenic	Coding sequence variant, missense variant
rs1560408865	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1560418164	TCT>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1578609780	AGGTCACCG>-	Pathogenic	Inframe deletion, coding sequence variant
rs1578611240	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1578612324	->T	Pathogenic	Coding sequence variant, frameshift variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT000164	hsa-miR-21-5p	Quantitative proteomic approach	19253296
MIRT025906	hsa-miR-7-5p	Microarray	19073608
MIRT1492376	hsa-miR-1246	CLIP-seq
MIRT1492377	hsa-miR-2110	CLIP-seq
MIRT1492378	hsa-miR-31	CLIP-seq
MIRT1492379	hsa-miR-3134	CLIP-seq
MIRT1492380	hsa-miR-3937	CLIP-seq
MIRT1492381	hsa-miR-3944-3p	CLIP-seq
MIRT1492382	hsa-miR-4269	CLIP-seq
MIRT1492383	hsa-miR-4271	CLIP-seq
MIRT1492384	hsa-miR-4320	CLIP-seq
MIRT1492385	hsa-miR-4492	CLIP-seq
MIRT1492386	hsa-miR-4498	CLIP-seq
MIRT1492387	hsa-miR-4505	CLIP-seq
MIRT1492388	hsa-miR-4514	CLIP-seq
MIRT1492389	hsa-miR-4534	CLIP-seq
MIRT1492390	hsa-miR-4667-5p	CLIP-seq
MIRT1492391	hsa-miR-4692	CLIP-seq
MIRT1492392	hsa-miR-4696	CLIP-seq
MIRT1492393	hsa-miR-4700-5p	CLIP-seq
MIRT1492394	hsa-miR-4725-3p	CLIP-seq
MIRT1492395	hsa-miR-4731-5p	CLIP-seq
MIRT1492396	hsa-miR-4742-5p	CLIP-seq
MIRT1492397	hsa-miR-548q	CLIP-seq
MIRT1492398	hsa-miR-762	CLIP-seq
MIRT1492399	hsa-miR-3689d	CLIP-seq
MIRT1492400	hsa-miR-3941	CLIP-seq
MIRT1492401	hsa-miR-4318	CLIP-seq
MIRT1492402	hsa-miR-466	CLIP-seq
MIRT1492403	hsa-miR-4672	CLIP-seq
MIRT1492404	hsa-miR-4693-5p	CLIP-seq
MIRT1492405	hsa-miR-583	CLIP-seq
MIRT1492406	hsa-miR-892a	CLIP-seq
MIRT1555595	hsa-miR-361-3p	CLIP-seq
MIRT2148465	hsa-miR-1287	CLIP-seq
MIRT2148466	hsa-miR-1827	CLIP-seq
MIRT2148467	hsa-miR-3135b	CLIP-seq
MIRT2148468	hsa-miR-370	CLIP-seq
MIRT2148469	hsa-miR-4301	CLIP-seq
MIRT2148470	hsa-miR-4459	CLIP-seq
MIRT2148471	hsa-miR-4520a-3p	CLIP-seq
MIRT2148472	hsa-miR-4638-3p	CLIP-seq
MIRT2148473	hsa-miR-4779	CLIP-seq
MIRT2368890	hsa-miR-106a	CLIP-seq
MIRT2368891	hsa-miR-106b	CLIP-seq
MIRT2368892	hsa-miR-17	CLIP-seq
MIRT2368893	hsa-miR-20a	CLIP-seq
MIRT2368894	hsa-miR-20b	CLIP-seq
MIRT2368895	hsa-miR-216a	CLIP-seq
MIRT2368896	hsa-miR-302a	CLIP-seq
MIRT2368897	hsa-miR-302b	CLIP-seq
MIRT2368898	hsa-miR-302c	CLIP-seq
MIRT2368899	hsa-miR-302d	CLIP-seq
MIRT2368900	hsa-miR-302e	CLIP-seq
MIRT2368901	hsa-miR-3140-3p	CLIP-seq
MIRT2368902	hsa-miR-3180-5p	CLIP-seq
MIRT2368903	hsa-miR-3607-3p	CLIP-seq
MIRT2368904	hsa-miR-3609	CLIP-seq
MIRT2368905	hsa-miR-3686	CLIP-seq
MIRT2368906	hsa-miR-372	CLIP-seq
MIRT2368907	hsa-miR-373	CLIP-seq
MIRT2368908	hsa-miR-4796-3p	CLIP-seq
MIRT2368909	hsa-miR-519d	CLIP-seq
MIRT2368910	hsa-miR-520a-3p	CLIP-seq
MIRT2368911	hsa-miR-520a-5p	CLIP-seq
MIRT2368912	hsa-miR-520b	CLIP-seq
MIRT2368913	hsa-miR-520c-3p	CLIP-seq
MIRT2368914	hsa-miR-520d-3p	CLIP-seq
MIRT2368915	hsa-miR-520e	CLIP-seq
MIRT2368916	hsa-miR-520f	CLIP-seq
MIRT2368917	hsa-miR-525-5p	CLIP-seq
MIRT2368918	hsa-miR-548ah	CLIP-seq
MIRT2368919	hsa-miR-93	CLIP-seq
MIRT2695233	hsa-miR-3974	CLIP-seq
MIRT2695234	hsa-miR-668	CLIP-seq

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Transcription factor	Regulation	Reference
XBP1	Unknown	16539657

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	20160352
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0001822	Process	Kidney development	IMP	9817917
GO:0003091	Process	Renal water homeostasis	IMP	9817917
GO:0005515	Function	Protein binding	IPI	17947299, 21044950, 23035048, 25274773, 32296183, 32814053
GO:0005516	Function	Calmodulin binding	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	23035048
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	11181571, 14527944
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	NAS	20160352
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006983	Process	ER overload response	IDA	16989814
GO:0006983	Process	ER overload response	TAS	17947299
GO:0007601	Process	Visual perception	IMP	9771706, 9817917
GO:0007605	Process	Sensory perception of sound	IMP	17492394
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010558	Process	Negative regulation of macromolecule biosynthetic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0017148	Process	Negative regulation of translation	IEA
GO:0030133	Component	Transport vesicle	IEA
GO:0030141	Component	Secretory granule	IDA	23035048
GO:0030425	Component	Dendrite	ISS	11181571
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	IBA
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	IEA
GO:0031016	Process	Pancreas development	IEA
GO:0031398	Process	Positive regulation of protein ubiquitination	IDA	20160352
GO:0031398	Process	Positive regulation of protein ubiquitination	IEA
GO:0031398	Process	Positive regulation of protein ubiquitination	ISS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IDA	20160352
GO:0031625	Function	Ubiquitin protein ligase binding	IEA
GO:0032469	Process	Endoplasmic reticulum calcium ion homeostasis	IDA	16989814
GO:0034976	Process	Response to endoplasmic reticulum stress	IDA	15994758
GO:0034976	Process	Response to endoplasmic reticulum stress	IEA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0036503	Process	ERAD pathway	IDA	20160352
GO:0036503	Process	ERAD pathway	IEA
GO:0036503	Process	ERAD pathway	ISS
GO:0042048	Process	Olfactory behavior	IEA
GO:0042593	Process	Glucose homeostasis	IMP	9817917
GO:0043066	Process	Negative regulation of apoptotic process	IMP	23035048
GO:0043069	Process	Negative regulation of programmed cell death	IMP	9771706
GO:0043524	Process	Negative regulation of neuron apoptotic process	IMP	9771706, 9817917
GO:0045927	Process	Positive regulation of growth	IEA
GO:0045927	Process	Positive regulation of growth	ISS
GO:0048306	Function	Calcium-dependent protein binding	IEA
GO:0050821	Process	Protein stabilization	IDA	20160352
GO:0050821	Process	Protein stabilization	IEA
GO:0050821	Process	Protein stabilization	IMP	23035048
GO:0050821	Process	Protein stabilization	ISS
GO:0050821	Process	Protein stabilization	TAS	23710284
GO:0050877	Process	Nervous system process	IMP	9817917
GO:0051117	Function	ATPase binding	IEA
GO:0051117	Function	ATPase binding	IPI	17947299
GO:0051247	Process	Positive regulation of protein metabolic process	IDA	17947299
GO:0051928	Process	Positive regulation of calcium ion transport	IDA	16989814
GO:0055074	Process	Calcium ion homeostasis	IBA
GO:0055074	Process	Calcium ion homeostasis	IDA	14527944
GO:0055074	Process	Calcium ion homeostasis	IEA
GO:0070628	Function	Proteasome binding	IEA
GO:0140297	Function	DNA-binding transcription factor binding	IEA
GO:0140597	Function	Protein carrier chaperone	IDA	20160352
GO:1902236	Process	Negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IEA
GO:1902532	Process	Negative regulation of intracellular signal transduction	IEA
GO:1903573	Process	Negative regulation of response to endoplasmic reticulum stress	IEA
GO:1903573	Process	Negative regulation of response to endoplasmic reticulum stress	IMP	23035048
GO:1903892	Process	Negative regulation of ATF6-mediated unfolded protein response	IDA	20160352
GO:1903892	Process	Negative regulation of ATF6-mediated unfolded protein response	IEA
GO:1904294	Process	Positive regulation of ERAD pathway	IEA
GO:2000675	Process	Negative regulation of type B pancreatic cell apoptotic process	IEA
GO:2000675	Process	Negative regulation of type B pancreatic cell apoptotic process	IMP	16087305

MIM	HGNC	e!Ensembl
606201	12762	ENSG00000109501

O76024

Protein name

Wolframin

Protein function

Participates in the regulation of cellular Ca(2+) homeostasis, at least partly, by modulating the filling state of the endoplasmic reticulum Ca(2+) store (PubMed:16989814). Negatively regulates the ER stress response and positively regulates the

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in heart followed by brain, placenta, lung and pancreas. Weakly expressed in liver, kidney and skeletal muscle. Also expressed in islet and beta-cell insulinoma cell line.

Sequence

MDSNTAPLGPSCPQPPPAPQPQARSRLNATASLEQERSERPRAPGPQAGPGPGVRDAAAP
AEPQAQHTRSRERADGTGPTKGDMEIPFEEVLERAKAGDPKAQTEVGKHYLQLAGDTDEE
LNSCTAVDWLVLAAKQGRREAVKLLRRCLADRRGITSENEREVRQLSSETDLERAVRKAA
LVMYWKLNPKKKKQVAVAELLENVGQVNEHDGGAQPGPVPKSLQKQRRMLERLVSSESKN
YIALDDFVEITKKYAKGVIPSSLFLQDDEDDDELAGKSPEDLPLRLKVVKYPLHAIMEIK
EYLIDMASRAGMHWLSTIIPTHHINALIFFFIVSNLTIDFFAFFIPLVIFYLSFISMVIC
TLKVFQDSKAWENFRTLTDLLLRFEPNLDVEQAEVNFGWNHLEPYAHFLLSVFFVIFSFP
IASKDCIPCSELAVITGFFTVTSYLSLSTHAEPYTRRALATEVTAGLLSLLPSMPLNWPY
LKVLGQTFITVPVGHLVVLNVSVPCLLYVYLLYLFFRMAQLRNFKGTYCYLVPYLVCFMW
CELSVVILLESTGLGLLRASIGYFLFLFALPILVAGLALVGVLQFARWFTSLELTKIAVT
VAVCSVPLLLRWWTKASFSVVGMVKSLTRSSMVKLILVWLTAIVLFCWFYVYRSEGMKVY
NSTLTWQQYGALCGPRAWKETNMARTQILCSHLEGHRVTWTGRFKYVRVTDIDNSAESAI
NMLPFFIGDWMRCLYGEAYPACSPGNTSTAEEELCRLKLLAKHPCHIKKFDRYKFEITVG
MPFSSGADGSRSREEDDVTKDIVLRASSEFKSVLLSLRQGSLIEFSTILEGRLGSKWPVF
ELKAISCLNCMAQLSPTRRHVKIEHDWRSTVHGAVKFAFDFFFFPFLSAA

Sequence length

890

Interactions

View interactions

	KEGG		Reactome
	Protein processing in endoplasmic reticulum		XBP1(S) activates chaperone genes Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation

3816

Show/Hide Causal Diseases (20)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Auditory neuropathy	Likely pathogenic	rs369062548, rs775303221	RCV003484467 RCV003484490
Autosomal dominant nonsyndromic hearing loss	Likely pathogenic; Pathogenic	rs74315205, rs387906930	RCV004794324 RCV004808555
Autosomal dominant nonsyndromic hearing loss 6	Likely pathogenic; Pathogenic	rs761320763, rs2109107823, rs747658523, rs772357412, rs1381011685, rs2109126109, rs764993824, rs777904670, rs781262017, rs1335076773, rs377544135, rs763677869, rs1560419631, rs2474194199, rs71530923 View all (32 more)	RCV002499595 RCV005023150 RCV001535831 RCV001535945 RCV001536100 RCV005023201 RCV002496000 RCV002503178 RCV002507696 RCV002497881 RCV002507701 RCV002492133 RCV002497889 RCV002509845 RCV000509458 RCV005034785 RCV005045372 RCV004585003 RCV005036665 RCV005031390 RCV002496259 RCV005394117 RCV000004778 RCV000004779 RCV000004782 RCV000020637 RCV005042394 RCV001536011 RCV002503760 RCV005031738 RCV005031739 RCV005031742 RCV002478696 RCV005031741 RCV005042421 RCV005047474 RCV005036883 RCV002502346 RCV001542531 RCV002489199 RCV005034035 RCV002481565 RCV003335407 RCV002506232 RCV002499212 RCV002479153 RCV002497609
Cataract 41	Likely pathogenic; Pathogenic	rs761320763, rs2109107823, rs747658523, rs772357412, rs1381011685, rs2109126109, rs764993824, rs777904670, rs781262017, rs1335076773, rs377544135, rs763677869, rs1560419631, rs749886570, rs71530923 View all (28 more)	RCV002499595 RCV005023150 RCV001535831 RCV001535945 RCV001536100 RCV005023201 RCV002496000 RCV002503178 RCV002507696 RCV002497881 RCV002507701 RCV002492133 RCV002497889 RCV002278852 RCV001536034 RCV005034785 RCV005045372 RCV005036665 RCV005031390 RCV002496259 RCV005394117 RCV005041982 RCV005042394 RCV001536011 RCV002503760 RCV005031738 RCV005031739 RCV005031742 RCV002478696 RCV005031741 RCV005042421 RCV005047474 RCV005036883 RCV002502346 RCV002489199 RCV005034035 RCV002481565 RCV002506232 RCV002499212 RCV002479153 RCV002497609 RCV003142122 RCV000077875
Diabetes mellitus	Likely pathogenic; Pathogenic	rs199946797, rs143064649, rs1730884546, rs1445355190, rs1170910466, rs142428158, rs1222900668	RCV001175325 RCV001175324 RCV001172534 RCV001175317 RCV001175318 RCV001175321 RCV001175326
Meniere disease	Likely pathogenic; Pathogenic	rs71530923	RCV004567372
Monogenic hearing loss	Likely pathogenic; Pathogenic	rs71532864, rs28937893, rs199946797, rs2474195730	RCV005865101 RCV005859322 RCV005646810 RCV006449210
Nonsyndromic genetic hearing loss	Likely pathogenic; Pathogenic	rs74315205	RCV001544536
Optic atrophy	Likely pathogenic; Pathogenic	rs71532862, rs150465110, rs199946797, rs145639028, rs387906930, rs1064794257, rs774265764, rs760337383, rs1560408865, rs1057368575	RCV004815702 RCV004816997 RCV004816309 RCV004816642 RCV004814922 RCV004816689 RCV004816720 RCV004816729 RCV004817969 RCV004813751
Optic neuropathy	Likely pathogenic; Pathogenic	rs377726402	RCV006262008
Rare genetic deafness	Likely pathogenic; Pathogenic	rs727503745, rs28937893, rs74315205, rs863224265, rs876657675, rs387906930, rs142668478, rs397517196	RCV000152660 RCV000599627 RCV000599631 RCV000611263 RCV000219504 RCV000605882 RCV000038650 RCV000038651
Retinal dystrophy	Likely pathogenic; Pathogenic	rs1362648752, rs74315205, rs199946797	RCV004814825 RCV004814826 RCV004816308
See cases	Likely pathogenic; Pathogenic	rs74315205, rs760337383, rs1443751733	RCV004797754 RCV002252138 RCV002252279
Type 2 diabetes mellitus	Likely pathogenic; Pathogenic	rs761320763, rs2109107823, rs747658523, rs772357412, rs1381011685, rs2109126109, rs764993824, rs777904670, rs781262017, rs1335076773, rs377544135, rs763677869, rs1560419631, rs71530923, rs1730456165 View all (26 more)	RCV002499595 RCV005023150 RCV001535831 RCV001535945 RCV001536100 RCV005023201 RCV002496000 RCV002503178 RCV002507696 RCV002497881 RCV002507701 RCV002492133 RCV002497889 RCV001199167 RCV005034785 RCV005045372 RCV005036665 RCV005031390 RCV002496259 RCV001542530 RCV005041982 RCV003227696 RCV001536011 RCV002503760 RCV005031738 RCV005031739 RCV005031742 RCV002478696 RCV005031741 RCV005042421 RCV005047474 RCV005036883 RCV002502346 RCV002489199 RCV005034035 RCV002481565 RCV002506232 RCV000626276 RCV002499212 RCV002479153 RCV002497609
WFS1-related disorder	Likely pathogenic; Pathogenic	rs71530923, rs28937892, rs199946797, rs797046113, rs148953711, rs138682654, rs863224264, rs863224265, rs2474194177, rs2474195730, rs1730871214, rs387906930, rs774265764, rs760337383, rs142428158	RCV004528924 RCV004737135 RCV004537507 RCV004737305 RCV004530178 RCV004737310 RCV004528984 RCV004541271 RCV004528017 RCV004534460 RCV004544196 RCV002280094 RCV004527597 RCV004535551 RCV004738178
WFS1-Related Spectrum Disorders	Likely pathogenic; Pathogenic	rs1362648752, rs199946797, rs863224265, rs143064649, rs760337383, rs1443751733	RCV000778736 RCV000778739 RCV001849340 RCV000285512 RCV000778738 RCV002221595
WFS1-spectrum disorder	Likely pathogenic; Pathogenic	rs387906930	RCV005252698
Wolfram syndrome	Likely pathogenic; Pathogenic	rs1362648752, rs199946797, rs777580652, rs797046112, rs797046113, rs369107336, rs774265764, rs372855769	RCV000499974 RCV000501459 RCV000192573 RCV000193337 RCV000194382 RCV000193050 RCV004017644 RCV000503566
Wolfram syndrome 1	Likely pathogenic; Pathogenic	rs761320763, rs2109125661, rs2109107823, rs2109125846, rs71530910, rs747658523, rs772357412, rs1381011685, rs2109125157, rs147974629, rs2109126109, rs2109125327, rs764993824, rs1189512943, rs2109127192 View all (79 more)	RCV002499595 RCV001647212 RCV005023150 RCV005866992 RCV005866994 RCV001535831 RCV001535945 RCV001536100 RCV001822905 RCV004785280 RCV005023201 RCV001667854 RCV001667855 RCV001667856 RCV001667857 RCV002503178 RCV001789842 RCV003321872 RCV001805739 RCV003323960 RCV002274237 RCV002497881 RCV002507701 RCV002492133 RCV002497889 RCV002509127 RCV002052070 RCV002267791 RCV002284028 RCV002286558 RCV002289299 RCV002289346 RCV002273965 RCV002509132 RCV000169684 RCV005034785 RCV006249854 RCV004775311 RCV003316883 RCV005045372 RCV005036665 RCV000004768 RCV000004769 RCV000004770 RCV000004772 RCV000004773 RCV000004774 RCV000004775 RCV000004777 RCV003155015 RCV001528145 RCV001706152 RCV000191145 RCV000191146 RCV001824671 RCV004786525 RCV005031739 RCV005031742 RCV001843422 RCV003126589 RCV005031741 RCV001668365 RCV003126290 RCV003223364 RCV005870121 RCV003322585 RCV003323276 RCV003323321 RCV003992778 RCV004786950 RCV005036883 RCV002502346 RCV004560392 RCV002469144 RCV000023511 RCV000023515 RCV002509074 RCV002469171 RCV003126754 RCV002489199 RCV005869517 RCV001672804 RCV003126758 RCV002506232 RCV003147503 RCV002509088 RCV001712777 RCV000760988 RCV000987412 RCV000995912 RCV004527413 RCV002274141 RCV002497609 RCV001195287 RCV001195288 RCV001262572
Wolfram-like syndrome	Likely pathogenic; Pathogenic	rs761320763, rs2109107823, rs747658523, rs772357412, rs1381011685, rs2109126109, rs764993824, rs777904670, rs71532864, rs781262017, rs1335076773, rs377544135, rs763677869, rs1560419631, rs71530923 View all (31 more)	RCV002499595 RCV005023150 RCV001535831 RCV001535945 RCV001536100 RCV005023201 RCV002496000 RCV002503178 RCV005603733 RCV002507696 RCV002497881 RCV002507701 RCV002492133 RCV002497889 RCV000509458 RCV005034785 RCV003323304 RCV005045372 RCV005036665 RCV005031390 RCV002243622 RCV005394117 RCV005041982 RCV000004784 RCV005042394 RCV001536011 RCV002503760 RCV005031738 RCV005031739 RCV005031742 RCV002478696 RCV001730586 RCV000656404 RCV005042421 RCV000023513 RCV005047474 RCV005036883 RCV002502346 RCV000023514 RCV002489199 RCV005034035 RCV005355992 RCV001849390 RCV002499212 RCV002479153 RCV002497609

Show/Hide Unknown Diseases (21)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autistic behavior	Conflicting classifications of pathogenicity	rs56393026, rs1394576939	RCV000502304 RCV000500223
Cervical cancer	Likely benign; Benign	rs145010311, rs9457	RCV005917897 RCV005897851
Childhood onset hearing loss	Uncertain risk allele; Uncertain significance	rs757027394	RCV001328016
Congenital bilateral perisylvian syndrome	Conflicting classifications of pathogenicity	rs2109125016	RCV003446983
Developmental cataract	Uncertain significance	rs1377309089	RCV001775024
Diabetes	Uncertain significance	rs544473222	RCV003334455
Diabetes mellitus, noninsulin-dependent, association with	Benign	rs6446482	RCV000004786
Hearing impairment	Uncertain significance; Conflicting classifications of pathogenicity	rs1386290018, rs141585847, rs113446173, rs200672755, rs142668478, rs756972444	RCV001375085 RCV001375053 RCV001375054 RCV001375186 RCV001375052 RCV000414885
Hepatocellular carcinoma	Benign	rs11725494, rs11732178, rs11725500	RCV005915244 RCV005906913 RCV005902279
Hereditary ataxia	Uncertain significance; Conflicting classifications of pathogenicity	rs147724970, rs147147660, rs201993978	RCV005625440 RCV005625437 RCV005625439
Lung cancer	Uncertain significance; Benign	rs377209257, rs9457, rs11732178, rs11725500	RCV005924262 RCV005897852 RCV005906915 RCV005902280
Lymphedema	Conflicting classifications of pathogenicity	rs145677667	RCV005625327
Malignant tumor of esophagus	Benign	rs11732178	RCV005906914
Malignant tumor of urinary bladder	Benign; Likely benign	rs71530904	RCV005890016
Monogenic diabetes	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance; Uncertain risk allele	rs55814513, rs71578980, rs71532874, rs35932623, rs35031397, rs146132083, rs1805070, rs71524349, rs41264699, rs3821945, rs112871383, rs71524353, rs56002719, rs373310972, rs146114074 View all (36 more)	RCV001174423 RCV001174427 RCV000445441 RCV000445373 RCV000445544 RCV000664090 RCV001174426 RCV000445448 RCV000445506 RCV000664098 RCV000664085 RCV000445390 RCV000664094 RCV000445494 RCV001174388 RCV000445453 RCV000445379 RCV001174386 RCV001174387 RCV001174421 RCV000445413 RCV001174422 RCV000445430 RCV000445445 RCV000664093 RCV001174389 RCV001174417 RCV000445375 RCV000664092 RCV000445526 RCV000445392 RCV000445466 RCV000445527 RCV000445460 RCV000445535 RCV000445427 RCV000445499 RCV001174418 RCV000664088 RCV000664096 RCV000664097 RCV001174420 RCV000664089 RCV000445534 RCV000445501 RCV001174424 RCV001174425 RCV000664091 RCV000664095 RCV001174385 RCV001174419
Nonpapillary renal cell carcinoma	Uncertain significance; Likely benign	rs71524353, rs1801212, rs1046316	RCV005926705 RCV005930284 RCV005898117
Nonsyndromic Hearing Loss, Dominant	Conflicting classifications of pathogenicity; Uncertain significance	rs752100338, rs373643818, rs886059540, rs886059535, rs71537674, rs568320906, rs71537671	RCV000404067 RCV000265586 RCV000274395 RCV000304463 RCV000338798 RCV000299844 RCV000268947
Ovarian serous cystadenocarcinoma	Uncertain significance; Benign	rs763480468, rs1801212, rs863224261	RCV005922285 RCV005888504 RCV005893561 RCV005930285
Sensorineural hearing loss disorder	Benign	rs1046314	RCV002287352
Spastic ataxia	Uncertain significance; Conflicting classifications of pathogenicity; Uncertain risk allele	rs746010848, rs113446173, rs71532861, rs146563951, rs200192011	RCV001647248 RCV001640297 RCV001640296 RCV001644744 RCV001644837
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs763480468	RCV005922286

Show/Hide Text Mining Associations (101)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
18 Hydroxylase deficiency	Associate	36384999
6q24 Related Transient Neonatal Diabetes Mellitus	Associate	28468959
Alstrom Syndrome	Associate	28432734
Attention Deficit and Disruptive Behavior Disorders	Associate	37399203
Auditory neuropathy	Associate	39422244
Autoimmune Diseases	Associate	18688868
Bipolar Disorder	Associate	15473915
Blindness	Associate	34006618, 36933359
Cakut	Associate	27151922
Cardiomyopathy Dilated	Associate	36967753
Cataract	Associate	21623591, 23531866, 28432734, 28468959, 34014271, 36781206, 37493686, 39766859
Cataract Autosomal Dominant Nuclear	Associate	23531866
Color Vision Defects	Associate	39363032
Colorectal Neoplasms	Associate	31724326, 35395711, 36445321
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects	Associate	39609996
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	36967753
Costeff optic atrophy syndrome	Associate	34006618
COVID 19	Associate	37834358
Crohn Disease	Associate	18688868, 37493686
Deafness	Associate	18060660, 18688868, 19258739, 20069065, 21623591, 21713316, 22238590, 25289672, 28039263, 30682115, 34325055, 34630320, 36597107, 36933359
Deafness Autosomal Dominant 1	Associate	12490066, 16648378, 17517145, 18518985, 18688868, 29258540, 34258273, 36225977, 36833385, 39766859
Deafness Autosomal Dominant 6	Associate	18688868, 36833385, 39422244
Deafness X Linked 1	Associate	28468959
Death	Associate	22792385
Dementia	Associate	37834358
Depressive Disorder Major	Associate	15473915
Diabetes Insipidus	Associate	18060660, 19258739, 21713316, 22238590, 23429432, 29549887, 32938580, 37399203
Diabetes Mellitus	Associate	12707373, 16442662, 16989814, 17603484, 18060660, 18688868, 21602428, 21713316, 22238590, 22662265, 23429432, 23851660, 23903355, 26426397, 28432734 View all (16 more)
Diabetes Mellitus Transient Neonatal 1	Associate	28468959, 37897565
Diabetes Mellitus Type 1	Associate	28432734, 31276222, 33538814, 36418577
Diabetes Mellitus Type 2	Associate	17603484, 18040659, 18060660, 18426861, 18694974, 19020324, 19258739, 20028947, 20361036, 20509872, 21713316, 22275441, 22389004, 22662265, 23144361 View all (16 more)
Diabetic Retinopathy	Associate	28821857, 39719581
Disease	Associate	21713316, 35469785, 36161854
Disruptive Impulse Control and Conduct Disorders	Associate	19328217
Dykes Markes Harper syndrome	Associate	37897565
Endometrial Neoplasms	Associate	34337010
Eye Diseases Hereditary	Associate	36729443
Glucose Intolerance	Associate	21602428
Graves Disease	Associate	18688868
Growth Disorders	Associate	37897565
Hearing Disorders	Associate	28039263
Hearing Loss	Associate	16648378, 17517145, 17846994, 18518985, 20069065, 21538838, 22240535, 28039263, 32419160, 32567228, 34258273, 34573359, 34753855, 35322580, 36225977 View all (4 more)
Hearing Loss Noise Induced	Associate	22240535
Hearing Loss Sensorineural	Associate	17517145, 21538838, 28468959, 32567228, 32938580, 34258273, 39422244
Hyperaldosteronism Familial Type II	Associate	36384999
Hyperglycemia	Associate	39766859
Hypertension	Associate	21713316
Hypoglycemia	Associate	21602428
Inflammation	Associate	33693650, 36980809
Kidney Diseases	Associate	27151922
Lymphoma Non Hodgkin	Associate	34258273
Mason Type Diabetes	Associate	40641032
Maturity Onset Diabetes of the Young Type 2	Associate	23903355
Mental Disorders	Associate	15473915, 18688868, 19328217, 32938580, 35206658
Mitochondrial Diseases	Associate	37163979
Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport	Associate	37163979
Mood Disorders	Associate	15473915, 19328217
Mucolipidosis III Gamma	Associate	37897565
Muscle Hypotonia	Associate	28468959
Muscle Weakness	Associate	36781206
Myotonic Dystrophy	Associate	22238590
Nervous System Diseases	Associate	36833385
Neurodegenerative Diseases	Associate	18040659, 36967753, 36982670
Neurologic Manifestations	Associate	23596069
Non alcoholic Fatty Liver Disease	Associate	33194991
Nonsyndromic Deafness	Associate	17846994, 23990876, 24612839, 28432734, 31389194, 34837038
Nonsyndromic Deafness	Stimulate	25388789
Nonsyndromic sensorineural hearing loss	Associate	17517145, 31937257, 32382995, 32567228
Obesity	Associate	36980809, 37859980
Optic Atrophies Hereditary	Associate	34573359
Optic Atrophy	Associate	12707373, 16648378, 16989814, 17846994, 18060660, 18688868, 19258739, 21538838, 21713316, 22238590, 23429432, 25255707, 29549887, 31937257, 32938580 View all (5 more)
Optic Atrophy Autosomal Dominant	Associate	16648378, 39363032
Optic Nerve Diseases	Associate	20069065, 35469785, 39363032
Osteoarthritis	Associate	22238590, 39363032
Parkinson Disease	Associate	18688868
Peptic Ulcer	Stimulate	28335035
Polycystic Ovary Syndrome	Associate	22389004
Prediabetic State	Associate	36980809
Psychological Trauma	Associate	37399203
Pulmonary Disease Chronic Obstructive	Associate	36445321
Renal Insufficiency	Associate	23903355
Retinal Diseases	Associate	36161854
Retinitis Pigmentosa	Associate	37493686
Sleep Wake Disorders	Associate	37399203
Syndrome	Associate	27151922
Thiamine responsive megaloblastic anemia syndrome	Associate	28432734
Thyroid Neoplasms	Associate	34167437
Tinnitus	Associate	35322580
Tomaculous neuropathy	Stimulate	28335035
Tooth Loss	Associate	35469785
Uniparental Disomy	Inhibit	25255707
Uniparental Disomy	Associate	34360843
Urologic Diseases	Associate	29549887, 32938580
Vestibular Diseases	Associate	36833385
Vestibular Diseases	Stimulate	36833385
Vision Disorders	Associate	34006618, 35469785
Waardenburg Syndrome	Associate	32938580
Wolfram Like Syndrome Autosomal Dominant	Associate	16648378, 27217304, 36933359, 39422244, 39766859, 40641032
Wolfram Syndrome	Associate	10521293, 12490066, 12707373, 15149303, 16442662, 16648378, 16989814, 17603484, 18040659, 18060660, 18566338, 18688868, 19258739, 19328217, 21602428 View all (50 more)
Wolfram Syndrome	Stimulate	33879837, 40202504
Wolfram Syndrome 2	Associate	28432734

WFS1 (wolframin ER transmembrane glycoprotein)