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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	124997
Gene name	WD repeat domain 81
Gene symbol	WDR81
Synonyms (NCBI Gene)	CAMRQ2CHMRQHYC3PPP1R166SORF-2
Chromosome	17
Chromosome location	17p13.3
Summary	This gene encodes a multi-domain transmembrane protein which is predominantly expressed in the brain and is thought to play a role in endolysosomal trafficking. Mutations in this gene are associated with an autosomal recessive form of a syndrome exhibitin

Show/Hide all (17)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137952560	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs138211651	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs138358708	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs143688446	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs151330612	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs200150228	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs200781463	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs369322431	T>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, intron variant, synonymous variant, coding sequence variant
rs543853235	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, intron variant, coding sequence variant, synonymous variant
rs587776906	C>T	Pathogenic	Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs730882206	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs770279237	C>T	Pathogenic, likely-pathogenic	Intron variant, non coding transcript variant, stop gained, coding sequence variant
rs771116788	AG>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057524638	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, stop gained
rs1064796183	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs1555562577	CG>T	Likely-pathogenic	Frameshift variant, intron variant, non coding transcript variant, coding sequence variant
rs1567718875	G>T	Likely-pathogenic	Intron variant, stop gained, non coding transcript variant, coding sequence variant

161

Show/Hide all (161)

miRTarBase ID	miRNA	Experiments	Reference
MIRT045880	hsa-miR-128-3p	CLASH	23622248
MIRT546002	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT546001	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT546000	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT545999	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT545998	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT545997	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT076144	hsa-miR-3714	PAR-CLIP	21572407
MIRT076147	hsa-miR-6510-5p	PAR-CLIP	21572407
MIRT076137	hsa-miR-214-3p	PAR-CLIP	21572407
MIRT076143	hsa-miR-3619-5p	PAR-CLIP	21572407
MIRT076141	hsa-miR-761	PAR-CLIP	21572407
MIRT076140	hsa-miR-605-3p	PAR-CLIP	21572407
MIRT545996	hsa-miR-1253	PAR-CLIP	21572407
MIRT076150	hsa-miR-6770-5p	PAR-CLIP	21572407
MIRT076142	hsa-miR-1909-3p	PAR-CLIP	21572407
MIRT076148	hsa-miR-6722-3p	PAR-CLIP	21572407
MIRT076146	hsa-miR-548aw	PAR-CLIP	21572407
MIRT076138	hsa-miR-518a-5p	PAR-CLIP	21572407
MIRT076139	hsa-miR-527	PAR-CLIP	21572407
MIRT546002	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT546001	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT546000	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT545999	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT545998	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT545997	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT076144	hsa-miR-3714	PAR-CLIP	21572407
MIRT076147	hsa-miR-6510-5p	PAR-CLIP	21572407
MIRT076137	hsa-miR-214-3p	PAR-CLIP	21572407
MIRT076143	hsa-miR-3619-5p	PAR-CLIP	21572407
MIRT076141	hsa-miR-761	PAR-CLIP	21572407
MIRT076140	hsa-miR-605-3p	PAR-CLIP	21572407
MIRT545996	hsa-miR-1253	PAR-CLIP	21572407
MIRT076150	hsa-miR-6770-5p	PAR-CLIP	21572407
MIRT076142	hsa-miR-1909-3p	PAR-CLIP	21572407
MIRT076148	hsa-miR-6722-3p	PAR-CLIP	21572407
MIRT076146	hsa-miR-548aw	PAR-CLIP	21572407
MIRT076138	hsa-miR-518a-5p	PAR-CLIP	21572407
MIRT076139	hsa-miR-527	PAR-CLIP	21572407
MIRT486683	hsa-miR-299-3p	PAR-CLIP	23592263
MIRT486682	hsa-miR-500b-3p	PAR-CLIP	23592263
MIRT486680	hsa-miR-4685-5p	PAR-CLIP	23592263
MIRT486681	hsa-miR-6837-5p	PAR-CLIP	23592263
MIRT486679	hsa-miR-1915-3p	PAR-CLIP	23592263
MIRT486678	hsa-miR-6764-5p	PAR-CLIP	23592263
MIRT486677	hsa-miR-6853-5p	PAR-CLIP	23592263
MIRT486676	hsa-miR-711	PAR-CLIP	23592263
MIRT486675	hsa-miR-3649	PAR-CLIP	23592263
MIRT486674	hsa-miR-1268a	PAR-CLIP	23592263
MIRT486673	hsa-miR-1268b	PAR-CLIP	23592263
MIRT486672	hsa-miR-4648	PAR-CLIP	23592263
MIRT486671	hsa-miR-4417	PAR-CLIP	23592263
MIRT486669	hsa-miR-4265	PAR-CLIP	23592263
MIRT486670	hsa-miR-4296	PAR-CLIP	23592263
MIRT486668	hsa-miR-4322	PAR-CLIP	23592263
MIRT546002	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT546001	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT546000	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT545999	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT545998	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT545997	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT076144	hsa-miR-3714	PAR-CLIP	21572407
MIRT076147	hsa-miR-6510-5p	PAR-CLIP	21572407
MIRT076137	hsa-miR-214-3p	PAR-CLIP	21572407
MIRT076143	hsa-miR-3619-5p	PAR-CLIP	21572407
MIRT076141	hsa-miR-761	PAR-CLIP	21572407
MIRT076140	hsa-miR-605-3p	PAR-CLIP	21572407
MIRT545996	hsa-miR-1253	PAR-CLIP	21572407
MIRT076150	hsa-miR-6770-5p	PAR-CLIP	21572407
MIRT076142	hsa-miR-1909-3p	PAR-CLIP	21572407
MIRT076148	hsa-miR-6722-3p	PAR-CLIP	21572407
MIRT076146	hsa-miR-548aw	PAR-CLIP	21572407
MIRT076138	hsa-miR-518a-5p	PAR-CLIP	21572407
MIRT076139	hsa-miR-527	PAR-CLIP	21572407
MIRT546002	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT546001	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT546000	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT545999	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT545998	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT545997	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT076144	hsa-miR-3714	PAR-CLIP	21572407
MIRT076147	hsa-miR-6510-5p	PAR-CLIP	21572407
MIRT076137	hsa-miR-214-3p	PAR-CLIP	21572407
MIRT076143	hsa-miR-3619-5p	PAR-CLIP	21572407
MIRT076141	hsa-miR-761	PAR-CLIP	21572407
MIRT076140	hsa-miR-605-3p	PAR-CLIP	21572407
MIRT545996	hsa-miR-1253	PAR-CLIP	21572407
MIRT076150	hsa-miR-6770-5p	PAR-CLIP	21572407
MIRT076142	hsa-miR-1909-3p	PAR-CLIP	21572407
MIRT076148	hsa-miR-6722-3p	PAR-CLIP	21572407
MIRT076146	hsa-miR-548aw	PAR-CLIP	21572407
MIRT076138	hsa-miR-518a-5p	PAR-CLIP	21572407
MIRT076139	hsa-miR-527	PAR-CLIP	21572407
MIRT486683	hsa-miR-299-3p	PAR-CLIP	23592263
MIRT486682	hsa-miR-500b-3p	PAR-CLIP	23592263
MIRT486680	hsa-miR-4685-5p	PAR-CLIP	23592263
MIRT486681	hsa-miR-6837-5p	PAR-CLIP	23592263
MIRT486679	hsa-miR-1915-3p	PAR-CLIP	23592263
MIRT486678	hsa-miR-6764-5p	PAR-CLIP	23592263
MIRT486677	hsa-miR-6853-5p	PAR-CLIP	23592263
MIRT486676	hsa-miR-711	PAR-CLIP	23592263
MIRT486675	hsa-miR-3649	PAR-CLIP	23592263
MIRT486674	hsa-miR-1268a	PAR-CLIP	23592263
MIRT486673	hsa-miR-1268b	PAR-CLIP	23592263
MIRT486672	hsa-miR-4648	PAR-CLIP	23592263
MIRT486671	hsa-miR-4417	PAR-CLIP	23592263
MIRT486669	hsa-miR-4265	PAR-CLIP	23592263
MIRT486670	hsa-miR-4296	PAR-CLIP	23592263
MIRT486668	hsa-miR-4322	PAR-CLIP	23592263
MIRT1491626	hsa-miR-1237	CLIP-seq
MIRT1491627	hsa-miR-1248	CLIP-seq
MIRT1491628	hsa-miR-3667-3p	CLIP-seq
MIRT1491629	hsa-miR-4268	CLIP-seq
MIRT1491630	hsa-miR-4448	CLIP-seq
MIRT1491631	hsa-miR-4778-3p	CLIP-seq
MIRT1491632	hsa-miR-1224-3p	CLIP-seq
MIRT1491633	hsa-miR-1236	CLIP-seq
MIRT1491634	hsa-miR-1260	CLIP-seq
MIRT1491635	hsa-miR-1260b	CLIP-seq
MIRT1491636	hsa-miR-1280	CLIP-seq
MIRT1491637	hsa-miR-133a	CLIP-seq
MIRT1491638	hsa-miR-133b	CLIP-seq
MIRT1491639	hsa-miR-188-3p	CLIP-seq
MIRT1491640	hsa-miR-3127-5p	CLIP-seq
MIRT1491641	hsa-miR-3156-3p	CLIP-seq
MIRT1491642	hsa-miR-361-3p	CLIP-seq
MIRT1491643	hsa-miR-4286	CLIP-seq
MIRT1491644	hsa-miR-4640-5p	CLIP-seq
MIRT1491645	hsa-miR-4726-5p	CLIP-seq
MIRT1491646	hsa-miR-760	CLIP-seq
MIRT1491633	hsa-miR-1236	CLIP-seq
MIRT1491637	hsa-miR-133a	CLIP-seq
MIRT1491638	hsa-miR-133b	CLIP-seq
MIRT1491639	hsa-miR-188-3p	CLIP-seq
MIRT1491647	hsa-miR-193a-3p	CLIP-seq
MIRT1491648	hsa-miR-193b	CLIP-seq
MIRT1491649	hsa-miR-25	CLIP-seq
MIRT1491650	hsa-miR-32	CLIP-seq
MIRT1491651	hsa-miR-3619-3p	CLIP-seq
MIRT1491652	hsa-miR-363	CLIP-seq
MIRT1491653	hsa-miR-367	CLIP-seq
MIRT1491654	hsa-miR-3690	CLIP-seq
MIRT1491655	hsa-miR-3918	CLIP-seq
MIRT1491656	hsa-miR-4254	CLIP-seq
MIRT1491657	hsa-miR-4435	CLIP-seq
MIRT1491658	hsa-miR-4449	CLIP-seq
MIRT1491659	hsa-miR-4699-3p	CLIP-seq
MIRT1491660	hsa-miR-4746-5p	CLIP-seq
MIRT1491661	hsa-miR-4764-3p	CLIP-seq
MIRT1491662	hsa-miR-4776-5p	CLIP-seq
MIRT1491663	hsa-miR-4783-3p	CLIP-seq
MIRT1491646	hsa-miR-760	CLIP-seq
MIRT1491664	hsa-miR-92a	CLIP-seq
MIRT1491665	hsa-miR-92b	CLIP-seq
MIRT1491666	hsa-miR-938	CLIP-seq
MIRT2368661	hsa-miR-1912	CLIP-seq
MIRT1491640	hsa-miR-3127-5p	CLIP-seq
MIRT2368662	hsa-miR-3616-3p	CLIP-seq
MIRT1491655	hsa-miR-3918	CLIP-seq
MIRT2368663	hsa-miR-4436b-3p	CLIP-seq
MIRT2368664	hsa-miR-4800-5p	CLIP-seq

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000421	Component	Autophagosome membrane	IDA	28404643
GO:0000421	Component	Autophagosome membrane	IEA
GO:0005515	Function	Protein binding	IPI	26783301, 27126989, 28404643
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	28404643
GO:0005739	Component	Mitochondrion	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IDA	27126989
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005768	Component	Endosome	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	28404643
GO:0005794	Component	Golgi apparatus	IDA	28404643
GO:0005829	Component	Cytosol	IDA	26783301, 27126989
GO:0005829	Component	Cytosol	IEA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IMP	28404643
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007005	Process	Mitochondrion organization	ISS
GO:0010008	Component	Endosome membrane	IDA	26783301, 27126989
GO:0016020	Component	Membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031901	Component	Early endosome membrane	IDA	26783301, 27126989
GO:0031901	Component	Early endosome membrane	IEA
GO:0031902	Component	Late endosome membrane	IDA	26783301, 27126989, 28404643
GO:0031902	Component	Late endosome membrane	IEA
GO:0035014	Function	Phosphatidylinositol 3-kinase regulator activity	IBA
GO:0035973	Process	Aggrephagy	IBA
GO:0035973	Process	Aggrephagy	IMP	28404643
GO:0045022	Process	Early endosome to late endosome transport	IMP	26783301, 27126989
GO:0050821	Process	Protein stabilization	IMP	26783301
GO:0070530	Function	K63-linked polyubiquitin modification-dependent protein binding	IDA	28404643
GO:0141039	Function	Phosphatidylinositol 3-kinase inhibitor activity	IMP	26783301

MIM	HGNC	e!Ensembl
614218	26600	ENSG00000167716

Q562E7

Protein name

WD repeat-containing protein 81

Protein function

Functions as a negative regulator of the PI3 kinase/PI3K activity associated with endosomal membranes via BECN1, a core subunit of the PI3K complex. By modifying the phosphatidylinositol 3-phosphate/PtdInsP3 content of endosomal membranes may re

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02138	Beach	350 → 591	Beige/BEACH domain	Family
PF00400	WD40	1639 → 1675	WD domain, G-beta repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. In the brain, highest levels in cerebellum and corpus callosum. {ECO:0000269|PubMed:21885617}.

Sequence

MAQGSGGREGALRTPAGGWHSPPSPDMQELLRSVERDLSIDPRQLAPAPGGTHVVALVPA
RWLASLRDRRLPLGPCPRAEGLGEAEVRTLLQRSVQRLPAGWTRVEVHGLRKRRLSYPLG
GGLPFEDGSCGPETLTRFMQEVAAQNYRNLWRHAYHTYGQPYSHSPAPSAVPALDSVRQA
LQRVYGCSFLPVGETTQCPSYAREGPCPPRGSPACPSLLRAEALLESPEMLYVVHPYVQF
SLHDVVTFSPAKLTNSQAKVLFILFRVLRAMDACHRQGLACGALSLYHIAVDEKLCSELR
LDLSAYERPEEDENEEAPVARDEAGIVSQEEQGGQPGQPTGQEELRSLVLDWVHGRISNF
HYLMQLNRLAGRRQGDPNYHPVLPWVVDFTTPHGRFRDLRKSKFRLNKGDKQLDFTYEMT
RQAFVAGGAGGGEPPHVPHHISDVLSDITYYVYKARRTPRSVLCGHVRAQWEPHEYPASM
ERMQNWTPDECIPEFYTDPSIFRSIHPDMPDLDVPAWCSSSQEFVAAHRALLESREVSRD
LHHWIDLTFGYKLQGKEAVKEKNVCLHLVDAHTHLASYGVVQLFDQPHPQRLAGAPALAP
EPPLIPKLLVQTIQETTGREDFTENPGQLPNGVGRPVLEATPCEASWTRDRPVAGEDDLE
QATEALDSISLAGKAGDQLGSSSQASPGLLSFSVASASRPGRRNKAAGADPGEGEEGRIL
LPEGFNPMQALEELEKTGNFLAKGLGGLLEVPEQPRVQPAVPLQCLLHRDMQALGVLLAE
MVFATRVRTLQPDAPLWVRFQAVRGLCTRHPKEVPVSLQPVLDTLLQMSGPEVPMGAERG
KLDQLFEYRPVSQGLPPPCPSQLLSPFSSVVPFPPYFPALHRFILLYQARRVEDEAQGRE
LVFALWQQLGAVLKDITPEGLEILLPFVLSLMSEEHTAVYTAWYLFEPVAKALGPKNANK
YLLKPLIGAYESPCQLHGRFYLYTDCFVAQLMVRLGLQAFLTHLLPHVLQVLAGAEASQE
ESKDLAGAAEEEESGLPGAGPGSCAFGEEIPMDGEPPASSGLGLPDYTSGVSFHDQADLP
ETEDFQAGLYVTESPQPQEAEAVSLGRLSDKSSTSETSLGEERAPDEGGAPVDKSSLRSG
DSSQDLKQSEGSEEEEEEEDSCVVLEEEEGEQEEVTGASELTLSDTVLSMETVVAGGSGG
DGEEEEEALPEQSEGKEQKILLDTACKMVRWLSAKLGPTVASRHVARNLLRLLTSCYVGP
TRQQFTVSSGESPPLSAGNIYQKRPVLGDIVSGPVLSCLLHIARLYGEPVLTYQYLPYIS
YLVAPGSASGPSRLNSRKEAGLLAAVTLTQKIIVYLSDTTLMDILPRISHEVLLPVLSFL
TSLVTGFPSGAQARTILCVKTISLIALICLRIGQEMVQQHLSEPVATFFQVFSQLHELRQ
QDLKLDPAGRGEGQLPQVVFSDGQQRPVDPALLDELQKVFTLEMAYTIYVPFSCLLGDII
RKIIPNHELVGELAALYLESISPSSRNPASVEPTMPGTGPEWDPHGGGCPQDDGHSGTFG
SVLVGNRIQIPNDSRPENPGPLGPISGVGGGGLGSGSDDNALKQELPRSVHGLSGNWLAY
WQYEIGVSQQDAHFHFHQIRLQSFPGHSGAVKCVAPLSSEDFFLSGSKDRTVRLWPLYNY
GDGTSETAPRLVYTQHRKSVFFVGQLEAPQHVVSCDGAVHVWDPFTGKTLRTVEPLDSRV
PLTAVAVMPAPHTSITMASSDSTLRFVDCRKPGLQHEFRLGGGLNPGLVRALAISPSGRS
VVAGFSSGFMVLLDTRTGLVLRGWPAHEGDILQIKAVEGSVLVSSSSDHSLTVWKELEQK
PTHHYKSASDPIHTFDLYGSEVVTGTVSNKIGVCSLLEPPSQATTKLSSENFRGTLTSLA
LLPTKRHLLLGSDNGVIRLLA

Sequence length

1941

Interactions

View interactions

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

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cerebellar ataxia	Likely pathogenic; Pathogenic	rs138358708	RCV004798813	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2	Likely pathogenic; Pathogenic	rs1484029774, rs1194329020, rs2151169266, rs730882206, rs770279237, rs138358708, rs1353464242, rs762005729, rs1250268669, rs2543921856, rs587776906, rs762607878	RCV003989701 RCV002266320 RCV004594631 RCV003987381 RCV003987417 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hydranencephaly	Likely pathogenic	rs730882206	RCV000162111	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydrocephalus, congenital, 3, with brain anomalies	Likely pathogenic; Pathogenic	rs1484029774, rs2151169266, rs730882206, rs770279237, rs587776906	RCV001844321 RCV002272765 RCV000660890 RCV000660889 RCV002490408	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microlissencephaly	Pathogenic	rs771116788	RCV000852371	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neonatal death	Likely pathogenic	rs730882206	RCV000162111	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe brain malformation	Likely pathogenic	rs730882206	RCV000162111	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe cerebellar hypoplasia	Likely pathogenic	rs730882206	RCV000162111	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
WDR81-related disorder	Likely pathogenic	rs779405050, rs2543908886	RCV001825338 RCV004554464	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 2	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA, INTELLECTUAL DISABILITY, AND DYSEQUILIBRIUM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL COMMUNICATING HYDROCEPHALUS	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSEQUILIBRIUM SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Exstrophy-epispadias complex	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fraser syndrome 3	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROCEPHALUS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OMPHALOCELE EXSTROPHY IMPERFORATE ANUS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (52)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	21885617	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	33730050	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrophoderma maculatum	Anetoderma	BEFREE	22686558		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	33724704, 33730050	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1	Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome	BEFREE	22686558		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2	Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome	GENOMICS_ENGLAND_DG	21885617, 28961333		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2	Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome	UNIPROT_DG	21885617, 26437881		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2	Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2	Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	21885617	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar hypoplasia	Pubtator	21885617	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25193853	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	28969387		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of neck	Congenital Anomaly Of Neck	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Hydrocephalus	Congenital Hydrocephalus	BEFREE	28556411		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Hydrocephalus	Congenital Hydrocephalus	GENOMICS_ENGLAND_DG	28556411		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	28404643		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysequilibrium syndrome	Dysequilibrium Syndrome	ORPHANET_DG	21885617		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysequilibrium syndrome	Dysequilibrium syndrome	Pubtator	21885617	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysequilibrium syndrome	Dysequilibrium Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysequilibrium syndrome	Dysequilibrium Syndrome	BEFREE	22686558, 28556411		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	33730050	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydranencephaly	Hydranencephaly	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydranencephaly	Hydranencephaly	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydrocephalus	Hydrocephalus	Pubtator	33724704	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES	CONGENITAL HYDROCEPHALUS, WITH BRAIN ANOMALIES	UNIPROT_DG	28556411		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES	CONGENITAL HYDROCEPHALUS, WITH BRAIN ANOMALIES	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES	CONGENITAL HYDROCEPHALUS, WITH BRAIN ANOMALIES	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	30531936		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	30531936		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	28969387, 30531936		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	30531936		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	33730050	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	33730050	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	36593250	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

WDR81 (WD repeat domain 81)