WFS1 (wolframin ER transmembrane glycoprotein)

Gene

• Entrez ID: 7466
• Gene name: Wolframin ER transmembrane glycoprotein
• Gene symbol: WFS1
• Synonyms (NCBI Gene): CTRCT41, WFRS, WFS, WFSL
• 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

SNPs

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

miRNA

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

Transcription factors

Transcription factor	Regulation	Reference
XBP1	Unknown	16539657

Gene ontology (GO)

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

Other IDs

• MIM: 606201
• HGNC: 12762
• e!Ensembl: ENSG00000109501

Protein

• UniProt ID: 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
• 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

Pathways

KEGG:

Protein processing in endoplasmic reticulum

Reactome:

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

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Auditory neuropathy	Likely pathogenic	rs369062548, rs775303221	RCV003484467 RCV003484490	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant nonsyndromic hearing loss	Likely pathogenic; Pathogenic	rs74315205, rs387906930	RCV004794324 RCV004808555	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant nonsyndromic hearing loss 6	Likely pathogenic; Pathogenic	rs761320763, rs2109107823, rs747658523, rs772357412, rs1381011685, rs2109126109, rs764993824, rs777904670, rs781262017, rs1335076773, rs377544135, rs763677869, rs1560419631, rs2474194199, rs71530923, rs1730456165, rs1309408215, rs2474195676, rs71530928, rs28937891, rs28937892, rs1362648752, rs28937893, rs104893883, rs104893882, rs74315205, rs199946797, rs797045076, rs797046113, rs148953711, rs138682654, rs863224264, rs863224265, rs201239579, rs863224268, rs774416127, rs1560421457, rs143064649, rs387906930, rs774265764, rs781575919, rs760337383, rs1131691778, rs372855769, rs1560422383, rs1443751733, rs142428158	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cataract 41	Likely pathogenic; Pathogenic	rs761320763, rs2109107823, rs747658523, rs772357412, rs1381011685, rs2109126109, rs764993824, rs777904670, rs781262017, rs1335076773, rs377544135, rs763677869, rs1560419631, rs749886570, rs71530923, rs1730456165, rs1309408215, rs71530928, rs28937891, rs28937892, rs1362648752, rs104893883, rs199946797, rs797045076, rs797046113, rs148953711, rs138682654, rs863224264, rs863224265, rs201239579, rs863224268, rs774416127, rs1560421457, rs143064649, rs774265764, rs781575919, rs760337383, rs372855769, rs1560422383, rs1443751733, rs142428158, rs1730930342, rs398123066	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diabetes mellitus	Likely pathogenic; Pathogenic	rs199946797, rs143064649, rs1730884546, rs1445355190, rs1170910466, rs142428158, rs1222900668	RCV001175325 RCV001175324 RCV001172534 RCV001175317 RCV001175318 RCV001175321 RCV001175326	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Meniere disease	Likely pathogenic; Pathogenic	rs71530923	RCV004567372	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monogenic hearing loss	Likely pathogenic; Pathogenic	rs71532864, rs28937893, rs199946797, rs2474195730	RCV005865101 RCV005859322 RCV005646810 RCV006449210	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonsyndromic genetic hearing loss	Likely pathogenic; Pathogenic	rs74315205	RCV001544536	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Optic neuropathy	Likely pathogenic; Pathogenic	rs377726402	RCV006262008	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic deafness	Likely pathogenic; Pathogenic	rs727503745, rs28937893, rs74315205, rs863224265, rs876657675, rs387906930, rs142668478, rs397517196	RCV000152660 RCV000599627 RCV000599631 RCV000611263 RCV000219504 RCV000605882 RCV000038650 RCV000038651	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs1362648752, rs74315205, rs199946797	RCV004814825 RCV004814826 RCV004816308	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Type 2 diabetes mellitus	Likely pathogenic; Pathogenic	rs761320763, rs2109107823, rs747658523, rs772357412, rs1381011685, rs2109126109, rs764993824, rs777904670, rs781262017, rs1335076773, rs377544135, rs763677869, rs1560419631, rs71530923, rs1730456165, rs1309408215, rs71530928, rs28937891, rs28937892, rs1362648752, rs104893883, rs199946797, rs797045076, rs797046113, rs148953711, rs138682654, rs863224264, rs863224265, rs201239579, rs863224268, rs774416127, rs1560421457, rs143064649, rs774265764, rs781575919, rs760337383, rs372855769, rs1553876668, rs1560422383, rs1443751733, rs142428158	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
WFS1-Related Spectrum Disorders	Likely pathogenic; Pathogenic	rs1362648752, rs199946797, rs863224265, rs143064649, rs760337383, rs1443751733	RCV000778736 RCV000778739 RCV001849340 RCV000285512 RCV000778738 RCV002221595	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
WFS1-spectrum disorder	Likely pathogenic; Pathogenic	rs387906930	RCV005252698	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Wolfram syndrome	Likely pathogenic; Pathogenic	rs1362648752, rs199946797, rs777580652, rs797046112, rs797046113, rs369107336, rs774265764, rs372855769	RCV000499974 RCV000501459 RCV000192573 RCV000193337 RCV000194382 RCV000193050 RCV004017644 RCV000503566	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wolfram syndrome 1	Likely pathogenic; Pathogenic	rs761320763, rs2109125661, rs2109107823, rs2109125846, rs71530910, rs747658523, rs772357412, rs1381011685, rs2109125157, rs147974629, rs2109126109, rs2109125327, rs764993824, rs1189512943, rs2109127192, rs777904670, rs1386447227, rs71532864, rs373146435, rs71530911, rs781262017, rs1335076773, rs377544135, rs763677869, rs1560419631, rs1281745640, rs377726402, rs150465110, rs2474194001, rs2474195328, rs931042621, rs1730863609, rs727503745, rs774330485, rs71530923, rs1730456165, rs2474192449, rs760337383, rs748205778, rs1309408215, rs71530928, rs28937891, rs104893879, rs28937892, rs1578609780, rs1191510461, rs104893880, rs104893881, rs1362648752, rs104893883, rs74315205, rs199946797, rs797045075, rs797045076, rs797046113, rs148953711, rs138682654, rs863224264, rs863224265, rs753237278, rs201239579, rs863224268, rs1043668392, rs1310304264, rs774416127, rs1402999203, rs762467865, rs773343292, rs1560422046, rs1560421457, rs143064649, rs1275272268, rs145639028, rs71524374, rs387906930, rs1064796781, rs1064794257, rs1064797306, rs774265764, rs781575919, rs760171298, rs372855769, rs1553879087, rs1553876668, rs1560422383, rs1560408865, rs1443751733, rs1578612324, rs1730600472, rs1730884546, rs142428158, rs1038816435, rs1730930342, rs71530914	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wolfram-like syndrome	Likely pathogenic; Pathogenic	rs761320763, rs2109107823, rs747658523, rs772357412, rs1381011685, rs2109126109, rs764993824, rs777904670, rs71532864, rs781262017, rs1335076773, rs377544135, rs763677869, rs1560419631, rs71530923, rs1730456165, rs748205778, rs1309408215, rs71530928, rs28937891, rs28937892, rs1362648752, rs104893883, rs74315205, rs199946797, rs797045076, rs797046113, rs148953711, rs138682654, rs863224264, rs863224265, rs201239579, rs71539673, rs863224268, rs876657675, rs774416127, rs1560421457, rs143064649, rs387906930, rs774265764, rs781575919, rs760337383, rs372855769, rs1560422383, rs1443751733, rs142428158	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Autistic behavior	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood onset hearing loss	Uncertain risk allele; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital bilateral perisylvian syndrome	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 6	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATOMYCOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATOPHYTOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental cataract	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes mellitus, noninsulin-dependent, association with	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC EYE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEUROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC POLYNEUROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET NUCLEAR CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary ataxia	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphedema	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monogenic diabetes	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance; Uncertain risk allele	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonsyndromic Hearing Loss, Dominant	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC ATROPHY 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTHER SPECIFIED DIABETES MELLITUS WITH UNSPECIFIED COMPLICATIONS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERISYLVIAN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural hearing loss disorder	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic ataxia	Uncertain significance; Conflicting classifications of pathogenicity; Uncertain risk allele	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES NEPHROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alstrom Syndrome	Alstrom syndrome	Pubtator	28432734	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia, Megaloblastic	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	16151413		★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ataxias, Hereditary	Ataxia	GENOMICS_ENGLAND_DG	30171196		★☆☆☆☆ Found in Text Mining only
Atrophy of testis	Testicular atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Attention Deficit and Disruptive Behavior Disorders	Attention deficit hyperactivity disorder	Pubtator	37399203	Associate	★☆☆☆☆ Found in Text Mining only
Auditory neuropathy	Auditory neuropathy	Pubtator	39422244	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autistic behavior	Autism	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Autoimmune Diseases	Autoimmune Diseases	BEFREE	18688868		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	LHGDN	18688868		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	18688868	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal dominant non-syndromic sensorineural deafness type DFNA	Non-Syndromic Sensorineural Deafness	Orphanet			★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	10760554, 12565131, 15234338, 15473915, 19125190, 27045389		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	15473915, 17239488, 18343518, 19125190, 22028430		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	15473915	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blindness	Blindness	Pubtator	34006618, 36933359	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	28335035		★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of the kidney and urinary tract	Pubtator	27151922	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	36967753	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	21623591		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	21623591, 23531866, 28432734, 28468959, 34014271, 36781206, 37493686, 39766859	Associate	★☆☆☆☆ Found in Text Mining only
CATARACT 41	Cataract	UNIPROT_DG	23531866		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CATARACT 41	Cataract	GENOMICS_ENGLAND_DG	27185633, 27468121		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CATARACT 41	Cataract	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CATARACT 41	Cataract	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Central Diabetes Insipidus	Diabetes Insipidus	BEFREE	25740874		★☆☆☆☆ Found in Text Mining only
Central Diabetes Insipidus	Diabetes Insipidus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Color Vision Defects	Color vision deficiency	Pubtator	39363032	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31724326, 35395711, 36445321	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects	Pubtator	39609996	Associate	★☆☆☆☆ Found in Text Mining only
Congenital sensorineural hearing loss	Congenital Sensorineural Hearing Loss	BEFREE	21067485		★☆☆☆☆ Found in Text Mining only
Congenital sensorineural hearing loss	Congenital Sensorineural Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Costeff optic atrophy syndrome	Costeff optic atrophy syndrome	Pubtator	34006618	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	18688868, 37493686	Associate	★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	18060660, 18688868, 19258739, 20069065, 21623591, 21713316, 22238590, 25289672, 28039263, 30682115, 34325055, 34630320, 36597107, 36933359	Associate	★☆☆☆☆ Found in Text Mining only
Deafness Autosomal Dominant 1	Deafness	Pubtator	12490066, 16648378, 17517145, 18518985, 18688868, 29258540, 34258273, 36225977, 36833385, 39766859	Associate	★☆☆☆☆ Found in Text Mining only
Deafness Autosomal Dominant 6	Deafness	Pubtator	18688868, 36833385, 39422244	Associate	★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)	Deafness	BEFREE	12324385		★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL DOMINANT 6	Deafness	UNIPROT_DG	11709537, 11709538, 12181639, 17517145, 18518985, 18688868, 21356526, 24462758, 25388789		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 6	Deafness	CLINVAR_DG	21917145		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 6	Deafness	GENOMICS_ENGLAND_DG	27185633, 9817917		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 6	Deafness	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 2	Deafness	BEFREE	12324385		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	37834358	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depression, Bipolar	Bipolar Disorder	BEFREE	12565131		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	10760554, 15852062		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	PSYGENET_DG	10760554, 11377748, 15852062		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder Major	Major depressive disorder	Pubtator	15473915	Associate	★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	15008830, 17603484, 18060660, 18544103, 19190890, 21199859, 21602428, 22662265, 23567972, 23845777, 23851660, 24477584, 28432734, 29207974, 30014265, 30266217		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Insipidus	Diabetes Insipidus	BEFREE	15138533, 21892113, 22771918, 23429432, 25056293, 29549887		★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus	Diabetes insipidus	Pubtator	18060660, 19258739, 21713316, 22238590, 23429432, 29549887, 32938580, 37399203	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus	Diabetes Insipidus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	11317350, 12107816, 12955714, 15008830, 17568405, 17603484, 18060660, 18544103, 18688868, 18806274, 19190890, 21199859, 21602428, 22662265, 23429432, 23567972, 23595122, 23650218, 23845777, 23851660, 24477584, 24588001, 25056293, 26426397, 27395765, 28432734, 28860598, 29207974, 29549887, 30014265, 30266217		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diabetes Mellitus	Diabetes mellitus	Pubtator	12707373, 16442662, 16989814, 17603484, 18060660, 18688868, 21602428, 21713316, 22238590, 22662265, 23429432, 23851660, 23903355, 26426397, 28432734, 28468959, 29207974, 31276222, 32938580, 33538814, 35227307, 36208030, 36418577, 36967753, 37277527, 37399203, 37440664, 37897565, 39609996, 39766859, 40641032	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diabetes Mellitus	Diabetes Mellitus	LHGDN	12955714, 18544103		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diabetes Mellitus Transient Neonatal 1	Diabetes mellitus transient neonatal	Pubtator	28468959, 37897565	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	28432734, 31276222, 33538814, 36418577	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	17603484, 18040659, 18060660, 18426861, 18694974, 19020324, 19258739, 20028947, 20361036, 20509872, 21713316, 22275441, 22389004, 22662265, 23144361, 23372846, 23462794, 23499253, 23903355, 24376643, 24637646, 26426397, 29439679, 31123324, 31638168, 31937257, 36208030, 37234924, 37277527, 37859980, 40641032	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	10679252, 15008830, 18806274, 24227685, 24890733, 25895475, 28271591, 29406269, 30014265		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	11916957, 15234338, 17603484, 18040659, 18060660, 18568334, 18597214, 18694974, 18984664, 19190890, 19330314, 20043853, 20361036, 20509872, 21127832, 22389004, 22513821, 23257691, 23298195, 23372846, 24145053, 25800097, 26426397, 26599349, 27623947, 29626590, 30014265, 31123324, 31759989		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	17603484		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	20581827, 22885922, 24509480, 29632382, 30054458, 30595370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	20581827, 22325160, 22885922, 23300278, 24509480		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GENOMICS_ENGLAND_DG	27185633		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Ketoacidosis	Diabetic Ketoacidosis	BEFREE	23755131		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	22513821, 29626590		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	28821857, 39719581	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diaphragmatic Eventration	Diaphragmatic Eventration	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Disruptive Impulse Control and Conduct Disorders	Disruptive, impulse control, and conduct disorders	Pubtator	19328217	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Early-onset nuclear cataract	Cataract	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Embryonal nuclear cataract (disorder)	Cataract	BEFREE	23531866		★☆☆☆☆ Found in Text Mining only
Embryonal nuclear cataract (disorder)	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	34337010	Associate	★☆☆☆☆ Found in Text Mining only
Eye Diseases Hereditary	Eye disease	Pubtator	36729443	Associate	★☆☆☆☆ Found in Text Mining only
Gastric ulcer	Gastric ulcer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	18688868		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	18688868	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	37897565	Associate	★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hearing Disorders	Headache	Pubtator	28039263	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	16648378, 17517145, 17846994, 18518985, 20069065, 21538838, 22240535, 28039263, 32419160, 32567228, 34258273, 34573359, 34753855, 35322580, 36225977, 36833385, 36933359, 39363032, 39766859	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	17517145, 21538838, 28468959, 32567228, 32938580, 34258273, 39422244	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	29529044		★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism Familial Type II	Hyperaldosteronism	Pubtator	36384999	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	18853134, 30266217		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	39766859	Associate	★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	19190890		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	21713316	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	21602428	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	12913071, 15994758		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratosis Follicularis	Keratosis Follicularis	BEFREE	11377748		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	21968327		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	27151922	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Low frequency deafness	Low-frequency hearing loss	BEFREE	12324385, 12650912, 17492394, 22498363, 28802351		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	21815143		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	10760554		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	10760554		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	BEFREE	10760554		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	BEFREE	10760554		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	BEFREE	10760554		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	BEFREE	10760554		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	BEFREE	10760554		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	15473915		★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	BEFREE	31638168		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	10760554, 15852062		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	PSYGENET_DG	10760554, 11377748, 15852062		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	11317350, 12605098, 15234338, 15473915, 15852062, 25056293, 29549887		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	18853134		★☆☆☆☆ Found in Text Mining only
Microglossia	Microglossia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Microspherophakia	Microspherophakia	BEFREE	23373429		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	23596069		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	37163979	Associate	★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	10624825, 11377748, 15473915, 19328217, 23650218, 23945090, 25074416		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	LHGDN	12782971, 15473915		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood disorder	Pubtator	15473915, 19328217	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	PSYGENET_DG	19328217, 22028430, 23650218, 23945090, 25074416		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucolipidosis III Gamma	Mucolipidosis	Pubtator	37897565	Associate	★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	22238590	Associate	★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	36833385	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	18040659, 36967753, 36982670	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	18688868, 23321269, 27045389, 28901522, 29357349		★☆☆☆☆ Found in Text Mining only
Neurogenic Urinary Bladder	Neurogenic Urinary Bladder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	19814620, 24909696, 25388789, 28271504		★☆☆☆☆ Found in Text Mining only
Nuclear cataract	Cataract	ORPHANET_DG	23531866		★☆☆☆☆ Found in Text Mining only
Nuclear cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nuclear non-senile cataract	Cataract	ORPHANET_DG	23531866		★☆☆☆☆ Found in Text Mining only
Nuclear non-senile cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	18853134, 19190890		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	36980809, 37859980	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	BEFREE	10521293, 16648378, 17568405, 18544103, 18688868, 21067485, 21538838, 22771918, 23595122, 24890733, 25056293, 25255707, 27395765, 28860598, 29406269, 30014265		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Optic Atrophy	Optic atrophy	Pubtator	12707373, 16648378, 16989814, 17846994, 18060660, 18688868, 19258739, 21538838, 21713316, 22238590, 23429432, 25255707, 29549887, 31937257, 32938580, 34006618, 36933359, 39363032, 39766859, 40527387	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Optic Atrophy 1	Optic Atrophy	BEFREE	16648378, 21538838		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Atrophy Autosomal Dominant	Optic atrophy	Pubtator	16648378, 39363032	Associate	★☆☆☆☆ Found in Text Mining only
Optic Neuropathy	Optic Neuropathy	BEFREE	20069065, 25056293		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteoarthritis	Osteoarthritis	Pubtator	22238590, 39363032	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	18688868		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	18688868	Associate	★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic Ulcer	BEFREE	28335035		★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic ulcer disease	Pubtator	28335035	Stimulate	★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	22389004		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	22389004	Associate	★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	36445321	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	36161854	Associate	★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	37493686	Associate	★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	11709537, 12073007, 17517145, 18518985, 18700423, 21538838, 23595122, 24462758, 25250959, 28271504, 28802351, 28974383, 29774890, 30171196		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	LHGDN	11709537, 12073007, 17492394, 17517145, 18518985		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Sideroblastic anemia	Sideroblastic Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Central	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	29357349		★☆☆☆☆ Found in Text Mining only
Testicular hypogonadism	Testicular Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thiamine Deficiency	Thiamine Deficiency	BEFREE	22226368		★☆☆☆☆ Found in Text Mining only
Thiamine responsive megaloblastic anemia syndrome	Thiamine-responsive megaloblastic anemia	Pubtator	28432734	Associate	★☆☆☆☆ Found in Text Mining only
Thiamine-responsive megaloblastic anemia	Thiamine Responsive Megaloblastic Anemia Syndrome	BEFREE	28432734		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	34167437	Associate	★☆☆☆☆ Found in Text Mining only
Tomaculous neuropathy	Hereditary neuropathy with liability to pressure palsies	Pubtator	28335035	Stimulate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	21199859		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	15473915		★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Usher Syndrome	Usher Syndrome	BEFREE	28263850		★☆☆☆☆ Found in Text Mining only
Vestibular Diseases	Vestibular disease	Pubtator	36833385	Associate	★☆☆☆☆ Found in Text Mining only
Vestibular Diseases	Vestibular disease	Pubtator	36833385	Stimulate	★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	34006618, 35469785	Associate	★☆☆☆☆ Found in Text Mining only
Waardenburg Syndrome	Waardenburg syndrome	Pubtator	32938580	Associate	★☆☆☆☆ Found in Text Mining only
Waardenburg Syndrome Type 1	Waardenburg Syndrome	BEFREE	22790102, 29774890, 30171196, 31266054		★☆☆☆☆ Found in Text Mining only
Wolf-Hirschhorn Syndrome	Wolf-Hirschhorn Syndrome	BEFREE	17637805		★☆☆☆☆ Found in Text Mining only
Wolfram Syndrome	Wolfram Syndrome	BEFREE	10521293, 10679252, 10760554, 11295831, 11317350, 11377748, 11709538, 12107816, 12181639, 12650912, 12754709, 12913071, 12955714, 14676474, 15008830, 15149303, 15151504, 15473915, 15492864, 15503287, 15605410, 15852062, 15994758, 16005363, 16087305, 16151413, 16195229, 16353398, 16442662, 16648378, 16806192, 17492394, 17517145, 17568405, 17603484, 17637805, 17719176, 18040659, 18060660, 18660851, 18688868, 18806274, 19042979, 19160074, 20160352, 20738327, 20972738, 21538838, 21564155, 21602428, 21623591, 21823543, 21968327, 22226368, 22771918, 23103830, 23373429, 23429432, 23650218, 23845777, 24227685, 24890733, 24909696, 25056293, 25173644, 25211237, 25255707, 25740874, 25895475, 26426397, 26435059, 26773575, 26943604, 27045389, 27412528, 27468121, 28263850, 28271591, 28860598, 28974383, 29207974, 29239282, 29277467, 29406269, 29529044, 29549887, 29774890, 29976929, 30014265, 30054673, 30171196, 30266217, 30930784, 31313226, 31391115, 31796109		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wolfram Syndrome	Wolfram syndrome	Pubtator	10521293, 12490066, 12707373, 15149303, 16442662, 16648378, 16989814, 17603484, 18040659, 18060660, 18566338, 18688868, 19258739, 19328217, 21602428, 21623591, 21713316, 22202014, 22226368, 22238590, 22781099, 22792385, 23429432, 23499253, 25255707, 25301491, 25542043, 26426397, 26888576, 27468121, 28271591, 28432734, 29277467, 29549887, 30979932, 31391115, 31937257, 32419160, 32521500, 32938580, 33693650, 33879153, 34006618, 34258273, 34360843, 34404380, 34630320, 35206658, 35469785, 36134655, 36781206, 36933359, 36967753, 36982670, 37163979, 37277527, 37399203, 37440664, 37752530, 37974252, 38450501, 39609996, 39766859, 40527387, 40641032	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wolfram Syndrome	Wolfram Syndrome	LHGDN	12107816, 12605098, 12754709, 12782971, 12955714, 15277431, 15912360, 16005363, 16151413, 16195229, 16550584, 17568405, 18566338, 18660851, 18688868, 19042979		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wolfram Syndrome	Wolfram Syndrome	CLINGEN_DG	12754709, 12913071, 15056606, 16151413, 21446023, 21602428, 24823368, 27341211		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wolfram Syndrome	Wolfram Syndrome	ORPHANET_DG	12913071, 16806192		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wolfram syndrome	Wolfram Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wolfram Syndrome	Wolfram Syndrome	CTD_human_DG	24705017		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wolfram Syndrome	Wolfram syndrome	Pubtator	33879837, 40202504	Stimulate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wolfram Syndrome	Wolfram Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wolfram Syndrome 1	Wolfram Syndrome	UNIPROT_DG	10521293, 11161832, 11295831, 15605410, 21538838, 22226368, 9771706, 9817917		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wolfram Syndrome 1	Wolfram Syndrome	CLINVAR_DG	11295831, 17603484, 18040659, 21067485, 21538838, 22238590, 23981289, 25211237, 26435059, 26633545, 26875006, 9856492		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wolfram Syndrome 1	Wolfram Syndrome	BEFREE	12605098, 17637805, 18667942, 20160352, 22790102, 28901522, 29257731, 29357349		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wolfram Syndrome 1	Wolfram Syndrome	CTD_human_DG	24705017		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wolfram Syndrome 1	Wolfram Syndrome	GENOMICS_ENGLAND_DG	27185633, 28468959, 30171196, 9817917		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
WOLFRAM SYNDROME 2	Wolfram Syndrome	BEFREE	15138533, 19451219		★☆☆☆☆ Found in Text Mining only
Wolfram Syndrome 2	Wolfram syndrome	Pubtator	28432734	Associate	★☆☆☆☆ Found in Text Mining only
Wolfram-like syndrome	Wolfram-Like Syndrome	CLINGEN_DG	11709537, 12073007, 16648378, 18544103, 20069065, 21538838, 25250959, 27341211, 27395765, 28802351, 29529044		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wolfram-like syndrome	Wolfram-Like Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wolfram-like syndrome	Wolfram-Like Syndrome	BEFREE	27217304, 29529044		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Wolfram-Like Syndrome, Autosomal Dominant	Wolfram-Like Syndrome	CLINGEN_DG	11709537, 12073007, 16648378, 18544103, 20069065, 21538838, 25250959, 27341211, 27395765, 28802351, 29529044		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolfram-Like Syndrome, Autosomal Dominant	Wolfram-Like Syndrome	UNIPROT_DG	16648378, 20069065, 21538838		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolfram-Like Syndrome, Autosomal Dominant	Wolfram-Like Syndrome	ORPHANET_DG	20069065		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolfram-Like Syndrome, Autosomal Dominant	Wolfram-Like Syndrome	GENOMICS_ENGLAND_DG	27185633, 9817917		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolfram-Like Syndrome, Autosomal Dominant	Wolfram-Like Syndrome	BEFREE	27217304		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolfram-Like Syndrome, Autosomal Dominant	Wolfram-Like Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wolfram-Like Syndrome, Autosomal Dominant	Wolfram-Like Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations