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	55717
Gene name	WD repeat domain 11
Gene symbol	WDR11
Synonyms (NCBI Gene)	BRWD2DR11HH14SRI1WDR15
Chromosome	10
Chromosome location	10q26.12
Summary	This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein com

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SNP ID	Visualize variation	Clinical significance	Consequence
rs318240760	G>A,C	Not-provided, pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant

194

Show/Hide all (194)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005277	hsa-miR-1-3p	pSILAC	18668040
MIRT020745	hsa-miR-155-5p	Proteomics	18668040
MIRT005277	hsa-miR-1-3p	Proteomics;Other	18668040
MIRT050257	hsa-miR-25-3p	CLASH	23622248
MIRT045904	hsa-miR-125b-5p	CLASH	23622248
MIRT044907	hsa-miR-186-5p	CLASH	23622248
MIRT1489710	hsa-miR-1179	CLIP-seq
MIRT1489711	hsa-miR-369-3p	CLIP-seq
MIRT1489712	hsa-miR-374a	CLIP-seq
MIRT1489713	hsa-miR-374b	CLIP-seq
MIRT1489714	hsa-miR-4251	CLIP-seq
MIRT1489715	hsa-miR-4303	CLIP-seq
MIRT1489716	hsa-miR-4329	CLIP-seq
MIRT1489717	hsa-miR-4503	CLIP-seq
MIRT1489718	hsa-miR-4709-5p	CLIP-seq
MIRT1489719	hsa-miR-4762-3p	CLIP-seq
MIRT1489720	hsa-miR-4786-5p	CLIP-seq
MIRT1489721	hsa-miR-545	CLIP-seq
MIRT1489722	hsa-miR-633	CLIP-seq
MIRT1489723	hsa-miR-769-5p	CLIP-seq
MIRT2147677	hsa-miR-4307	CLIP-seq
MIRT2147678	hsa-miR-4729	CLIP-seq
MIRT2147679	hsa-miR-570	CLIP-seq
MIRT2367990	hsa-miR-1323	CLIP-seq
MIRT2367991	hsa-miR-3171	CLIP-seq
MIRT2367992	hsa-miR-3613-3p	CLIP-seq
MIRT2367993	hsa-miR-3662	CLIP-seq
MIRT2367994	hsa-miR-410	CLIP-seq
MIRT2367995	hsa-miR-4269	CLIP-seq
MIRT2367996	hsa-miR-4318	CLIP-seq
MIRT2367997	hsa-miR-4438	CLIP-seq
MIRT2367998	hsa-miR-4679	CLIP-seq
MIRT2367999	hsa-miR-4693-5p	CLIP-seq
MIRT2368000	hsa-miR-4720-3p	CLIP-seq
MIRT2368001	hsa-miR-4766-3p	CLIP-seq
MIRT2368002	hsa-miR-4804-3p	CLIP-seq
MIRT2368003	hsa-miR-5095	CLIP-seq
MIRT2368004	hsa-miR-520d-5p	CLIP-seq
MIRT2368005	hsa-miR-524-5p	CLIP-seq
MIRT2368006	hsa-miR-548a-5p	CLIP-seq
MIRT2368007	hsa-miR-548ab	CLIP-seq
MIRT2368008	hsa-miR-548ak	CLIP-seq
MIRT2368009	hsa-miR-548b-5p	CLIP-seq
MIRT2368010	hsa-miR-548c-5p	CLIP-seq
MIRT2368011	hsa-miR-548d-5p	CLIP-seq
MIRT2368012	hsa-miR-548h	CLIP-seq
MIRT2368013	hsa-miR-548i	CLIP-seq
MIRT2368014	hsa-miR-548j	CLIP-seq
MIRT2368015	hsa-miR-548k	CLIP-seq
MIRT2368016	hsa-miR-548l	CLIP-seq
MIRT2368017	hsa-miR-548o	CLIP-seq
MIRT2368018	hsa-miR-548u	CLIP-seq
MIRT2368019	hsa-miR-548w	CLIP-seq
MIRT2368020	hsa-miR-548y	CLIP-seq
MIRT2368021	hsa-miR-559	CLIP-seq
MIRT2368022	hsa-miR-892a	CLIP-seq
MIRT2434702	hsa-miR-342-3p	CLIP-seq
MIRT2434703	hsa-miR-4719	CLIP-seq
MIRT2147678	hsa-miR-4729	CLIP-seq
MIRT2434704	hsa-miR-513a-3p	CLIP-seq
MIRT2434705	hsa-miR-539	CLIP-seq
MIRT2147679	hsa-miR-570	CLIP-seq
MIRT2434706	hsa-miR-579	CLIP-seq
MIRT2434707	hsa-miR-580	CLIP-seq
MIRT2661502	hsa-miR-10a	CLIP-seq
MIRT2661503	hsa-miR-10b	CLIP-seq
MIRT2661504	hsa-miR-1256	CLIP-seq
MIRT2661505	hsa-miR-218	CLIP-seq
MIRT2661506	hsa-miR-3140-3p	CLIP-seq
MIRT2367991	hsa-miR-3171	CLIP-seq
MIRT2434702	hsa-miR-342-3p	CLIP-seq
MIRT2661507	hsa-miR-3545-5p	CLIP-seq
MIRT2367992	hsa-miR-3613-3p	CLIP-seq
MIRT2367993	hsa-miR-3662	CLIP-seq
MIRT1489711	hsa-miR-369-3p	CLIP-seq
MIRT1489712	hsa-miR-374a	CLIP-seq
MIRT1489713	hsa-miR-374b	CLIP-seq
MIRT2661508	hsa-miR-376c	CLIP-seq
MIRT2661509	hsa-miR-3925-5p	CLIP-seq
MIRT2661510	hsa-miR-3938	CLIP-seq
MIRT2661511	hsa-miR-3943	CLIP-seq
MIRT2661512	hsa-miR-4291	CLIP-seq
MIRT2661513	hsa-miR-4292	CLIP-seq
MIRT2661514	hsa-miR-4297	CLIP-seq
MIRT2147677	hsa-miR-4307	CLIP-seq
MIRT2661515	hsa-miR-4308	CLIP-seq
MIRT2661516	hsa-miR-4313	CLIP-seq
MIRT2367996	hsa-miR-4318	CLIP-seq
MIRT2661517	hsa-miR-4464	CLIP-seq
MIRT2661518	hsa-miR-4477a	CLIP-seq
MIRT2661519	hsa-miR-455-5p	CLIP-seq
MIRT2367998	hsa-miR-4679	CLIP-seq
MIRT2367999	hsa-miR-4693-5p	CLIP-seq
MIRT2661520	hsa-miR-4699-3p	CLIP-seq
MIRT2661521	hsa-miR-4700-3p	CLIP-seq
MIRT2661522	hsa-miR-4701-5p	CLIP-seq
MIRT1489718	hsa-miR-4709-5p	CLIP-seq
MIRT2434703	hsa-miR-4719	CLIP-seq
MIRT2661523	hsa-miR-4720-5p	CLIP-seq
MIRT2661524	hsa-miR-4725-5p	CLIP-seq
MIRT2147678	hsa-miR-4729	CLIP-seq
MIRT2661525	hsa-miR-4748	CLIP-seq
MIRT2661526	hsa-miR-4773	CLIP-seq
MIRT1489720	hsa-miR-4786-5p	CLIP-seq
MIRT2661527	hsa-miR-4789-3p	CLIP-seq
MIRT2661528	hsa-miR-4799-3p	CLIP-seq
MIRT2661529	hsa-miR-486-5p	CLIP-seq
MIRT2661530	hsa-miR-504	CLIP-seq
MIRT2434704	hsa-miR-513a-3p	CLIP-seq
MIRT2661531	hsa-miR-513a-5p	CLIP-seq
MIRT2661532	hsa-miR-513c	CLIP-seq
MIRT2661533	hsa-miR-514b-5p	CLIP-seq
MIRT2368004	hsa-miR-520d-5p	CLIP-seq
MIRT2368005	hsa-miR-524-5p	CLIP-seq
MIRT2434705	hsa-miR-539	CLIP-seq
MIRT1489721	hsa-miR-545	CLIP-seq
MIRT2368006	hsa-miR-548a-5p	CLIP-seq
MIRT2368007	hsa-miR-548ab	CLIP-seq
MIRT2368008	hsa-miR-548ak	CLIP-seq
MIRT2368009	hsa-miR-548b-5p	CLIP-seq
MIRT2368010	hsa-miR-548c-5p	CLIP-seq
MIRT2368011	hsa-miR-548d-5p	CLIP-seq
MIRT2368012	hsa-miR-548h	CLIP-seq
MIRT2368013	hsa-miR-548i	CLIP-seq
MIRT2368014	hsa-miR-548j	CLIP-seq
MIRT2368015	hsa-miR-548k	CLIP-seq
MIRT2368016	hsa-miR-548l	CLIP-seq
MIRT2368018	hsa-miR-548u	CLIP-seq
MIRT2368019	hsa-miR-548w	CLIP-seq
MIRT2368020	hsa-miR-548y	CLIP-seq
MIRT2661534	hsa-miR-550b	CLIP-seq
MIRT2368021	hsa-miR-559	CLIP-seq
MIRT2147679	hsa-miR-570	CLIP-seq
MIRT2434706	hsa-miR-579	CLIP-seq
MIRT2434707	hsa-miR-580	CLIP-seq
MIRT2661535	hsa-miR-588	CLIP-seq
MIRT1489722	hsa-miR-633	CLIP-seq
MIRT2661536	hsa-miR-636	CLIP-seq
MIRT2661537	hsa-miR-670	CLIP-seq
MIRT1489723	hsa-miR-769-5p	CLIP-seq
MIRT2368022	hsa-miR-892a	CLIP-seq
MIRT2661502	hsa-miR-10a	CLIP-seq
MIRT2661503	hsa-miR-10b	CLIP-seq
MIRT2661504	hsa-miR-1256	CLIP-seq
MIRT2661505	hsa-miR-218	CLIP-seq
MIRT2661506	hsa-miR-3140-3p	CLIP-seq
MIRT2434702	hsa-miR-342-3p	CLIP-seq
MIRT2661507	hsa-miR-3545-5p	CLIP-seq
MIRT1489711	hsa-miR-369-3p	CLIP-seq
MIRT1489712	hsa-miR-374a	CLIP-seq
MIRT1489713	hsa-miR-374b	CLIP-seq
MIRT2661508	hsa-miR-376c	CLIP-seq
MIRT2661510	hsa-miR-3938	CLIP-seq
MIRT2661511	hsa-miR-3943	CLIP-seq
MIRT2661512	hsa-miR-4291	CLIP-seq
MIRT2661513	hsa-miR-4292	CLIP-seq
MIRT2661514	hsa-miR-4297	CLIP-seq
MIRT2147677	hsa-miR-4307	CLIP-seq
MIRT2661515	hsa-miR-4308	CLIP-seq
MIRT2661516	hsa-miR-4313	CLIP-seq
MIRT2661517	hsa-miR-4464	CLIP-seq
MIRT2661518	hsa-miR-4477a	CLIP-seq
MIRT2661519	hsa-miR-455-5p	CLIP-seq
MIRT2661520	hsa-miR-4699-3p	CLIP-seq
MIRT2661521	hsa-miR-4700-3p	CLIP-seq
MIRT2661522	hsa-miR-4701-5p	CLIP-seq
MIRT1489718	hsa-miR-4709-5p	CLIP-seq
MIRT2434703	hsa-miR-4719	CLIP-seq
MIRT2661523	hsa-miR-4720-5p	CLIP-seq
MIRT2661524	hsa-miR-4725-5p	CLIP-seq
MIRT2147678	hsa-miR-4729	CLIP-seq
MIRT2661525	hsa-miR-4748	CLIP-seq
MIRT2661526	hsa-miR-4773	CLIP-seq
MIRT1489720	hsa-miR-4786-5p	CLIP-seq
MIRT2661527	hsa-miR-4789-3p	CLIP-seq
MIRT2695188	hsa-miR-4793-5p	CLIP-seq
MIRT2661528	hsa-miR-4799-3p	CLIP-seq
MIRT2661529	hsa-miR-486-5p	CLIP-seq
MIRT2661530	hsa-miR-504	CLIP-seq
MIRT2434704	hsa-miR-513a-3p	CLIP-seq
MIRT2661531	hsa-miR-513a-5p	CLIP-seq
MIRT2661532	hsa-miR-513c	CLIP-seq
MIRT2661533	hsa-miR-514b-5p	CLIP-seq
MIRT2434705	hsa-miR-539	CLIP-seq
MIRT1489721	hsa-miR-545	CLIP-seq
MIRT2661534	hsa-miR-550b	CLIP-seq
MIRT2147679	hsa-miR-570	CLIP-seq
MIRT2434706	hsa-miR-579	CLIP-seq
MIRT2434707	hsa-miR-580	CLIP-seq
MIRT2661535	hsa-miR-588	CLIP-seq
MIRT1489722	hsa-miR-633	CLIP-seq
MIRT2661536	hsa-miR-636	CLIP-seq
MIRT2661537	hsa-miR-670	CLIP-seq
MIRT1489723	hsa-miR-769-5p	CLIP-seq

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	20887964, 29084197, 29263200, 29426865
GO:0005634	Component	Nucleus	IDA	29263200
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	20887964
GO:0005737	Component	Cytoplasm	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005794	Component	Golgi apparatus	IEA
GO:0005802	Component	Trans-Golgi network	IDA	29426865
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005929	Component	Cilium	IDA
GO:0005930	Component	Axoneme	ISS
GO:0006886	Process	Intracellular protein transport	IDA	29426865
GO:0007507	Process	Heart development	ISS
GO:0008589	Process	Regulation of smoothened signaling pathway	ISS
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0016020	Component	Membrane	HDA	19946888
GO:0031410	Component	Cytoplasmic vesicle	IDA	29426865
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0035264	Process	Multicellular organism growth	ISS
GO:0036064	Component	Ciliary basal body	IDA	29263200
GO:0036064	Component	Ciliary basal body	IEA
GO:0042995	Component	Cell projection	IEA
GO:0060271	Process	Cilium assembly	ISS
GO:0060322	Process	Head development	ISS
GO:0099041	Process	Vesicle tethering to Golgi	IDA	29426865

MIM	HGNC	e!Ensembl
606417	13831	ENSG00000120008

Q9BZH6

Protein name

WD repeat-containing protein 11 (Bromodomain and WD repeat-containing protein 2) (WD repeat-containing protein 15)

Protein function

Involved in the Hedgehog (Hh) signaling pathway, is essential for normal ciliogenesis (PubMed:29263200). Regulates the proteolytic processing of GLI3 and cooperates with the transcription factor EMX1 in the induction of downstream Hh pathway gen

PDB

8XFB , 8Z9M

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous.

Sequence

MLPYTVNFKVSARTLTGALNAHNKAAVDWGWQGLIAYGCHSLVVVIDSITAQTLQVLEKH
KADVVKVKWARENYHHNIGSPYCLRLASADVNGKIIVWDVAAGVAQCEIQEHAKPIQDVQ
WLWNQDASRDLLLAIHPPNYIVLWNADTGTKLWKKSYADNILSFSFDPFDPSHLTLLTSE
GIVFISDFSPSKPPSGPGKKVYISSPHSSPAHNKLATATGAKKALNKVKILITQEKPSAE
FITLNDCLQLAYLPSKRNHMLLLYPREILILDLEVNQTVGVIAIERTGVPFLQVIPCFQR
DGLFCLHENGCITLRVRRSYNNIFTTSNEEPDPDPVQELTYDLRSQCDAIRVTKTVRPFS
MVCCPVNENAAALVVSDGRVMIWELKSAVCNRNSRNSSSGVSPLYSPVSFCGIPVGVLQN
KLPDLSLDNMIGQSAIAGEEHPRGSILREVHLKFLLTGLLSGLPAPQFAIRMCPPLTTKN
IKMYQPLLAVGTSNGSVLVYHLTSGLLHKELSIHSCEVKGIEWTSLTSFLSFATSTPNNM
GLVRNELQLVDLPTGRSIAFRGERGNDESAIEMIKVSHLKQYLAVVFRDKPLELWDVRTC
TLLREMSKNFPTITALEWSPSHNLKSLRKKQLATREAMARQTVVSDTELSIVESSVISLL
QEAESKSELSQNISAREHFVFTDIDGQVYHLTVEGNSVKDSARIPPDGSMGSITCIAWKG
DTLVLGDMDGNLNFWDLKGRVSRGIPTHRSWVRKIRFAPGKGNQKLIAMYNDGAEVWDTK
EVQMVSSLRSGRNVTFRILDVDWCTSDKVILASDDGCIRVLEMSMKSACFRMDEQELTEP
VWCPYLLVPRASLALKAFLLHQPWNGQYSLDISHVDYPENEEIKNLLQEQLNSLSNDIKK
LLLDPEFTLLQRCLLVSRLYGDESELHFWTVAAHYLHSLSQEKSASTTAPKEAAPRDKLS
NPLDICYDVLCENAYFQKFQLERVNLQEVKRSTYDHTRKCTDQLLLLGQTDRAVQLLLET
SADNQHYYCDSLKACLVTTVTSSGPSQSTIKLVATNMIANGKLAEGVQLLCLIDKAADAC
RYLQTYGEWNRAAWLAKVRLNPEECADVLRRWVDHLCSPQVNQKSKALLVLLSLGCFFSV
AETLHSMRYFDRAALFVEACLKYGAFEVTEDTEKLITAIYADYARSLKNLGFKQGAVLFA
SKAGAAGKDLLNELESPKEEPIEE

Sequence length

1224

Interactions

View interactions

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

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hypogonadotropic hypogonadism 14 with anosmia	Pathogenic	rs318240761	RCV000030850	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypogonadotropic hypogonadism 14 with or without anosmia	Likely pathogenic	rs2133718612, rs1847196520	RCV002251049 RCV001192675	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual developmental disorder, autosomal recessive 78	Pathogenic; Likely pathogenic	rs2133748193, rs1252726486, rs747938475, rs760973100	RCV003152627 RCV003152628 RCV003152629 RCV003152630	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Pathogenic; Likely pathogenic	rs2133748193, rs1252726486, rs747938475, rs760973100	RCV001647286 RCV001647287 RCV001647288 RCV001647289	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
WDR11-related disorder	Pathogenic; Likely pathogenic	rs747938475, rs775474626	RCV004753315 RCV003404608	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (27)

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.
Amenorrhea	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN PROSTATIC HYPERPLASIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN URINARY SYSTEM NEOPLASM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARGE syndrome	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EATING DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadotropic hypogonadism	Uncertain significance	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypogonadotropic hypogonadism 7 with or without anosmia	Uncertain significance; Benign; Likely benign	ClinVar ClinVar, HPO ClinVar, HPO	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPOPITUITARISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC GROWTH HORMONE DEFICIENCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KALLMANN SYNDROME	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANHYPOPITUITARISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY DWARFISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY SHORT STATURE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY STALK INTERRUPTION SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHEEHAN SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UROGENITAL NEOPLASM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (129)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adult Medulloblastoma	Medulloblastoma	BEFREE	29029386		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia totalis	Alopecia	BEFREE	7593774		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia universalis	Alopecia	BEFREE	7593774		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	26199944	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anterior hypopituitarism	Hypopituitarism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	11037894	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	21716163		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	15793882		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune thyroiditis	Autoimmune Thyroiditis	BEFREE	16430717		★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	GWASCAT_DG	30410027		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cartilage-hair hypoplasia	Cartilage-Hair Hypoplasia	BEFREE	29263200		★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	33686834	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	29029386		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis of pregnancy	Cholestasis of pregnancy	BEFREE	18554163		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	26518904		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	7908684		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	29263200		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	26199944	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Combined Pituitary Hormone Deficiency	Combined pituitary hormone deficiency	Pubtator	25064402	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypogonadotropic hypogonadism	Congenital Hypogonadotropic Hypogonadism	BEFREE	29263200		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of breast	Breast hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of ovary	Hypoplasia of the ovary	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	BEFREE	30711679		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital sensorineural hearing loss	Congenital Sensorineural Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	32469254	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	34413497	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus	Diabetes Insipidus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	34023962	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	12270547, 12843130		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
End Stage Liver Disease	End Stage Liver Disease	BEFREE	14999597		★★★★★ ★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Female hypogonadism syndrome	Female Hypogonadism Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	11536051		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	11536051		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	11536051		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	15236755		★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	34413497	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	15236755, 16430717		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	34413497	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	40508017	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis Autoimmune	Autoimmune hepatitis	Pubtator	15793882	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	29263200		★★★★★ ★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	Pubtator	34413497	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	26199944, 28209183, 32982993, 33270637, 34413497, 35432193, 40508017	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	30711679		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA	Hypogonadotropic Hypogonadism With Or Without Anosmia	UNIPROT_DG	20887964, 29263200		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA	Hypogonadotropic Hypogonadism With Or Without Anosmia	GENOMICS_ENGLAND_DG	25064402		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA	Hypogonadotropic Hypogonadism With Or Without Anosmia	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA	Hypogonadotropic Hypogonadism With Or Without Anosmia	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypospadias	Hypospadias	Pubtator	28209183	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	20887964, 21856375, 22035731, 26114870		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism	Pubtator	22035731, 36130823	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Inflammatory Myopathies	Inflammatory Myopathy	BEFREE	25521389		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	34413497	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Obstruction	Intestinal Obstruction	BEFREE	10955565		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann Syndrome	BEFREE	20887964, 21856375, 26114870, 29263200		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome	Kallmann Syndrome	ORPHANET_DG	20887964		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann syndrome	Kallmann Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome	Kallmann syndrome	Pubtator	21682876, 22035731, 26199944	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome	Kallmann Syndrome	GENOMICS_ENGLAND_DG	26350204		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Chronic	Kidney Failure	BEFREE	26518904		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	25546242		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	25546242		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	7940496		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12684693, 7940496		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	29029386		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	10049951	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	9807738		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	34413497	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mirror movements disorder	Mirror Movements	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	16671949		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	10803518, 16321860		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	32469254	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11536051, 12684685, 12684693, 16430717, 29029386		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Normosmic congenital hypogonadotropic hypogonadism	Normosmic Congenital Hypogonadotropic Hypogonadism	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	36614257	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Panhypopituitarism	Panhypopituitarism	BEFREE	25064402		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	16430717		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	BEFREE	11982641		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	Pubtator	9540980	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary stalk interruption syndrome	Pituitary Stalk Interruption Syndrome	ORPHANET_DG	28453850		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pituitary stalk interruption syndrome	Pituitary Stalk Interruption Syndrome	BEFREE	28453858		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	24265779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	17257319		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	12100689		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatic Heart Disease	Rheumatic Heart Disease	BEFREE	24581333		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	11469451, 17384178		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	36472318	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	CTD_human_DG	21822266		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	30738099		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scleroderma, Limited	Scleroderma	BEFREE	15572392		★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary physiologic amenorrhea	Secondary Physiologic Amenorrhea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Septo-Optic Dysplasia	Septo-Optic Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	11263593		★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	17384178, 8064726		★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular hypogonadism	Testicular Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	14641517		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	7940496		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	7940496		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	11592376		★★★★★ ★☆☆☆☆ Found in Text Mining only

WDR11 (WD repeat domain 11)