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	51057
Gene name	WD repeat containing planar cell polarity effector
Gene symbol	WDPCP
Synonyms (NCBI Gene)	BBS15C2orf86CHDTHPCPLANE5FRITZFRTZ
Chromosome	2
Chromosome location	2p15
Summary	This gene encodes a cytoplasmic WD40 repeat protein. A similar gene in frogs encodes a planar cell polarity protein that plays a critical role in collective cell movement and ciliogenesis by mediating septin localization. Mutations in this gene are associ

Show/Hide all (7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs199959383	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs200322968	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs267606692	C>G	Risk-factor	Coding sequence variant, non coding transcript variant, missense variant
rs267606693	C>T	Risk-factor	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs397704728	C>A	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs727503781	TA>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1575420160	AA>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

146

Show/Hide all (146)

miRTarBase ID	miRNA	Experiments	Reference
MIRT714805	hsa-miR-122-3p	HITS-CLIP	19536157
MIRT714804	hsa-miR-1470	HITS-CLIP	19536157
MIRT714803	hsa-miR-370-3p	HITS-CLIP	19536157
MIRT714802	hsa-miR-6893-3p	HITS-CLIP	19536157
MIRT714801	hsa-miR-3653-5p	HITS-CLIP	19536157
MIRT714800	hsa-miR-1976	HITS-CLIP	19536157
MIRT714799	hsa-miR-4290	HITS-CLIP	19536157
MIRT714798	hsa-miR-3157-5p	HITS-CLIP	19536157
MIRT714797	hsa-miR-4279	HITS-CLIP	19536157
MIRT714796	hsa-miR-3977	HITS-CLIP	19536157
MIRT664636	hsa-miR-483-5p	HITS-CLIP	23313552
MIRT664635	hsa-miR-2392	HITS-CLIP	23313552
MIRT664634	hsa-miR-1265	HITS-CLIP	23313552
MIRT664628	hsa-miR-411-5p	HITS-CLIP	23313552
MIRT664633	hsa-miR-4716-5p	HITS-CLIP	23313552
MIRT664632	hsa-miR-193b-5p	HITS-CLIP	23313552
MIRT664631	hsa-miR-6832-5p	HITS-CLIP	23313552
MIRT664630	hsa-miR-8078	HITS-CLIP	23313552
MIRT664629	hsa-miR-6755-3p	HITS-CLIP	23313552
MIRT664628	hsa-miR-411-5p	HITS-CLIP	23313552
MIRT664627	hsa-miR-197-3p	HITS-CLIP	23313552
MIRT664626	hsa-miR-5096	HITS-CLIP	23313552
MIRT664625	hsa-miR-1303	HITS-CLIP	23313552
MIRT664636	hsa-miR-483-5p	HITS-CLIP	23824327
MIRT664635	hsa-miR-2392	HITS-CLIP	23824327
MIRT664634	hsa-miR-1265	HITS-CLIP	23824327
MIRT664628	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT664633	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT664632	hsa-miR-193b-5p	HITS-CLIP	23824327
MIRT664631	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT664630	hsa-miR-8078	HITS-CLIP	23824327
MIRT664629	hsa-miR-6755-3p	HITS-CLIP	23824327
MIRT664628	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT664627	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT664626	hsa-miR-5096	HITS-CLIP	23824327
MIRT664625	hsa-miR-1303	HITS-CLIP	23824327
MIRT714805	hsa-miR-122-3p	HITS-CLIP	19536157
MIRT714804	hsa-miR-1470	HITS-CLIP	19536157
MIRT714803	hsa-miR-370-3p	HITS-CLIP	19536157
MIRT714802	hsa-miR-6893-3p	HITS-CLIP	19536157
MIRT714801	hsa-miR-3653-5p	HITS-CLIP	19536157
MIRT714800	hsa-miR-1976	HITS-CLIP	19536157
MIRT714799	hsa-miR-4290	HITS-CLIP	19536157
MIRT714798	hsa-miR-3157-5p	HITS-CLIP	19536157
MIRT714797	hsa-miR-4279	HITS-CLIP	19536157
MIRT714796	hsa-miR-3977	HITS-CLIP	19536157
MIRT664636	hsa-miR-483-5p	HITS-CLIP	23313552
MIRT664635	hsa-miR-2392	HITS-CLIP	23313552
MIRT664634	hsa-miR-1265	HITS-CLIP	23313552
MIRT664628	hsa-miR-411-5p	HITS-CLIP	23313552
MIRT664633	hsa-miR-4716-5p	HITS-CLIP	23313552
MIRT664632	hsa-miR-193b-5p	HITS-CLIP	23313552
MIRT664631	hsa-miR-6832-5p	HITS-CLIP	23313552
MIRT664630	hsa-miR-8078	HITS-CLIP	23313552
MIRT664629	hsa-miR-6755-3p	HITS-CLIP	23313552
MIRT664628	hsa-miR-411-5p	HITS-CLIP	23313552
MIRT664627	hsa-miR-197-3p	HITS-CLIP	23313552
MIRT664626	hsa-miR-5096	HITS-CLIP	23313552
MIRT664625	hsa-miR-1303	HITS-CLIP	23313552
MIRT664636	hsa-miR-483-5p	HITS-CLIP	23824327
MIRT664635	hsa-miR-2392	HITS-CLIP	23824327
MIRT664634	hsa-miR-1265	HITS-CLIP	23824327
MIRT664628	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT664633	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT664632	hsa-miR-193b-5p	HITS-CLIP	23824327
MIRT664631	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT664630	hsa-miR-8078	HITS-CLIP	23824327
MIRT664629	hsa-miR-6755-3p	HITS-CLIP	23824327
MIRT664628	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT664627	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT664626	hsa-miR-5096	HITS-CLIP	23824327
MIRT664625	hsa-miR-1303	HITS-CLIP	23824327
MIRT1489703	hsa-miR-3182	CLIP-seq
MIRT1489704	hsa-miR-4457	CLIP-seq
MIRT1489705	hsa-miR-4659a-3p	CLIP-seq
MIRT1489706	hsa-miR-4659b-3p	CLIP-seq
MIRT1489707	hsa-miR-4709-3p	CLIP-seq
MIRT1489708	hsa-miR-4727-5p	CLIP-seq
MIRT1489709	hsa-miR-513b	CLIP-seq
MIRT2147652	hsa-miR-1208	CLIP-seq
MIRT2147653	hsa-miR-1254	CLIP-seq
MIRT2147654	hsa-miR-3116	CLIP-seq
MIRT2147655	hsa-miR-3192	CLIP-seq
MIRT2147656	hsa-miR-4634	CLIP-seq
MIRT2147657	hsa-miR-4735-5p	CLIP-seq
MIRT2147658	hsa-miR-4775	CLIP-seq
MIRT2147659	hsa-miR-4794	CLIP-seq
MIRT2147660	hsa-miR-548a-5p	CLIP-seq
MIRT2147661	hsa-miR-548ab	CLIP-seq
MIRT2147662	hsa-miR-548ak	CLIP-seq
MIRT2147663	hsa-miR-548b-5p	CLIP-seq
MIRT2147664	hsa-miR-548c-5p	CLIP-seq
MIRT2147665	hsa-miR-548d-5p	CLIP-seq
MIRT2147666	hsa-miR-548h	CLIP-seq
MIRT2147667	hsa-miR-548i	CLIP-seq
MIRT2147668	hsa-miR-548j	CLIP-seq
MIRT2147669	hsa-miR-548k	CLIP-seq
MIRT2147670	hsa-miR-548l	CLIP-seq
MIRT2147671	hsa-miR-548w	CLIP-seq
MIRT2147672	hsa-miR-548y	CLIP-seq
MIRT2147673	hsa-miR-559	CLIP-seq
MIRT2147674	hsa-miR-590-3p	CLIP-seq
MIRT2147675	hsa-miR-619	CLIP-seq
MIRT2147676	hsa-miR-661	CLIP-seq
MIRT2367978	hsa-miR-1183	CLIP-seq
MIRT2147652	hsa-miR-1208	CLIP-seq
MIRT2367979	hsa-miR-1343	CLIP-seq
MIRT2367980	hsa-miR-3137	CLIP-seq
MIRT1489703	hsa-miR-3182	CLIP-seq
MIRT2367981	hsa-miR-3185	CLIP-seq
MIRT2367982	hsa-miR-3545-3p	CLIP-seq
MIRT2367983	hsa-miR-3614-3p	CLIP-seq
MIRT2367984	hsa-miR-3714	CLIP-seq
MIRT2367985	hsa-miR-378g	CLIP-seq
MIRT2367986	hsa-miR-4437	CLIP-seq
MIRT1489705	hsa-miR-4659a-3p	CLIP-seq
MIRT1489706	hsa-miR-4659b-3p	CLIP-seq
MIRT2367987	hsa-miR-4674	CLIP-seq
MIRT2367988	hsa-miR-4680-5p	CLIP-seq
MIRT2367989	hsa-miR-4726-3p	CLIP-seq
MIRT2367978	hsa-miR-1183	CLIP-seq
MIRT2147652	hsa-miR-1208	CLIP-seq
MIRT2367980	hsa-miR-3137	CLIP-seq
MIRT2367982	hsa-miR-3545-3p	CLIP-seq
MIRT2367983	hsa-miR-3614-3p	CLIP-seq
MIRT2367988	hsa-miR-4680-5p	CLIP-seq
MIRT2147653	hsa-miR-1254	CLIP-seq
MIRT2147654	hsa-miR-3116	CLIP-seq
MIRT2661501	hsa-miR-4282	CLIP-seq
MIRT1489704	hsa-miR-4457	CLIP-seq
MIRT2147657	hsa-miR-4735-5p	CLIP-seq
MIRT2147658	hsa-miR-4775	CLIP-seq
MIRT2147659	hsa-miR-4794	CLIP-seq
MIRT1489709	hsa-miR-513b	CLIP-seq
MIRT2147674	hsa-miR-590-3p	CLIP-seq
MIRT2147676	hsa-miR-661	CLIP-seq
MIRT2147653	hsa-miR-1254	CLIP-seq
MIRT2147654	hsa-miR-3116	CLIP-seq
MIRT2661501	hsa-miR-4282	CLIP-seq
MIRT1489704	hsa-miR-4457	CLIP-seq
MIRT2147657	hsa-miR-4735-5p	CLIP-seq
MIRT2147658	hsa-miR-4775	CLIP-seq
MIRT2147659	hsa-miR-4794	CLIP-seq
MIRT1489709	hsa-miR-513b	CLIP-seq
MIRT2147674	hsa-miR-590-3p	CLIP-seq
MIRT2147676	hsa-miR-661	CLIP-seq

Show/Hide all (50)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001736	Process	Establishment of planar polarity	NAS	27158779
GO:0001822	Process	Kidney development	IEA
GO:0002093	Process	Auditory receptor cell morphogenesis	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	NAS	27158779
GO:0005930	Component	Axoneme	ISS
GO:0005938	Component	Cell cortex	ISS
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007399	Process	Nervous system development	IBA
GO:0007399	Process	Nervous system development	IEA
GO:0010762	Process	Regulation of fibroblast migration	IEA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0016476	Process	Regulation of embryonic cell shape	ISS
GO:0021915	Process	Neural tube development	NAS	27158779
GO:0030030	Process	Cell projection organization	IEA
GO:0032185	Process	Septin cytoskeleton organization	ISS
GO:0032880	Process	Regulation of protein localization	ISS
GO:0035091	Function	Phosphatidylinositol binding	IEA
GO:0035091	Function	Phosphatidylinositol binding	ISS
GO:0042073	Process	Intraciliary transport	NAS	27158779
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IMP	27158779
GO:0042995	Component	Cell projection	IEA
GO:0043010	Process	Camera-type eye development	IEA
GO:0043587	Process	Tongue morphogenesis	IEA
GO:0043587	Process	Tongue morphogenesis	IMP	27158779
GO:0044782	Process	Cilium organization	IBA
GO:0044782	Process	Cilium organization	IEA
GO:0045184	Process	Establishment of protein localization	IBA
GO:0045184	Process	Establishment of protein localization	IEA
GO:0048568	Process	Embryonic organ development	IEA
GO:0051893	Process	Regulation of focal adhesion assembly	IEA
GO:0055123	Process	Digestive system development	IEA
GO:0060021	Process	Roof of mouth development	IEA
GO:0060021	Process	Roof of mouth development	IMP	27158779
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	ISS
GO:0060541	Process	Respiratory system development	IEA
GO:0072359	Process	Circulatory system development	IEA
GO:0090521	Process	Podocyte cell migration	IEA
GO:0097541	Component	Axonemal basal plate	IBA
GO:0097541	Component	Axonemal basal plate	IEA
GO:1900027	Process	Regulation of ruffle assembly	IEA
GO:1902017	Process	Regulation of cilium assembly	NAS	27158779
GO:2000114	Process	Regulation of establishment of cell polarity	IEA

MIM	HGNC	e!Ensembl
613580	28027	ENSG00000143951

O95876

Protein name

WD repeat-containing and planar cell polarity effector protein fritz homolog (hFRTZ) (Bardet-Biedl syndrome 15 protein) (WD repeat-containing and planar cell polarity effector protein)

Protein function

Probable effector of the planar cell polarity signaling pathway which regulates the septin cytoskeleton in both ciliogenesis and collective cell movements. Together with FUZ and WDPCP proposed to function as core component of the CPLANE (cilioge

PDB

7Q3D

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF11768	Frtz	79 → 622	WD repeat-containing and planar cell polarity effector protein Fritz	Family

Sequence

MRREFCWDAYSKAAGSRASSPLPRQDRDSFCHQMSFCLTELHLWSLKNTLHIADRDIGIY
QYYDKKDPPATEHGNLEKKQKLAESRDYPWTLKNRRPEKLRDSLKELEELMQNSRCVLSK
WKNKYVCQLLFGSGVLVSLSLSGPQLEKVVIDRSLVGKLISDTISDALLTDSFIILSFLA
QNKLCFIQFTKKMESSDVNKRLEKLSALDYKIFYYEIPGPINKTTERHLAINCVHDRVVC
WWPLVNDDAWPWAPISSEKDRANLLLLGYAQGRLEVLSSVRTEWDPLDVRFGTKQPYQVF
TVEHSVSVDKEPMADSCIYECIRNKIQCVSVTRIPLKSKAISCCRNVTEDKLILGCEDSS
LILYETHRRVTLLAQTELLPSLISCHPSGAILLVGSNQGELQIFDMALSPINIQLLAEDR
LPRETLQFSKLFDASSSLVQMQWIAPQVVSQKGEGSDIYDLLFLRFERGPLGVLLFKLGV
FTRGQLGLIDIIFQYIHCDEIYEAINILSSMNWDTLGHQCFISMSAIVNHLLRQKLTPER
EAQLETSLGTFYAPTRPLLDSTILEYRDQISKYARRFFHHLLRYQRFEKAFLLAVDVGAR
DLFMDIHYLALDKGELALAEVARKRASDIDAESITSGVELLGPLDRGDMLNEAFIGLSLA
PQGEDSFPDNLPPSCPTHRHILQQRILNGSSNRQIIDRRNELEKDICSGFLMTNTCNAED
GELREDGREQEIRDGGSLKMIHFGLV

Sequence length

746

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
Bardet-Biedl syndrome	Likely pathogenic; Pathogenic	rs1486299333, rs2104771725, rs2103954534, rs182144885, rs2105500878, rs1281918775, rs959923850, rs2104772718, rs2105466704, rs772536466, rs727503781, rs1558542714, rs776780491, rs1449433208, rs894887380 View all (15 more)	RCV001378083 RCV001380820 RCV001389721 RCV001382644 RCV001389894 View all (25 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl syndrome 15	Likely pathogenic; Pathogenic	rs2105500878, rs2103953112, rs749286148, rs2105466704, rs397704728, rs766056004, rs2466930630, rs767481770, rs1673664656, rs765356177, rs1700584499	RCV002504653 RCV001536026 RCV005023258 RCV005031991 RCV000000062 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Heart defect - tongue hamartoma - polysyndactyly syndrome	Likely pathogenic; Pathogenic	rs2105500878, rs2103953112, rs749286148, rs2105466704, rs727503781, rs2469145265, rs766056004, rs2469249675, rs767481770, rs1575420160, rs765356177	RCV002504653 RCV001536026 RCV005023258 RCV005031991 RCV000150108 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Orofaciodigital syndrome	Likely pathogenic; Pathogenic	rs1575420160	RCV000851199	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
WDPCP-related disorder	Pathogenic; Likely pathogenic	rs182144885, rs772536466, rs894887380, rs768036084, rs766056004	RCV003416303 RCV004746542 RCV004747222 RCV003404349 RCV004747343	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (33)

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
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bardet-Biedl syndrome 1	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bardet-Biedl syndrome 12, modifier of	risk factor	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHY	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL APLASIA OF THE VERMIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DEFECT, TONGUE HAMARTOMA AND POLYSYNDACTYLY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DEFECT-TONGUE HAMARTOMA-POLYSYNDACTYLY SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Joubert syndrome	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meckel syndrome, type 6, modifier of	risk factor	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OROFACIODIGITAL SYNDROMES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ 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
Retinal dystrophy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VESICOURETERAL REFLUX	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (80)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anencephaly	Anencephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASCAT_DG	31619474		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrioventricular Septal Defect	Atrioventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	30610198	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	GWASCAT_DG	31619474		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bardet-Biedl syndrome	Bardet-Biedl Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	BEFREE	22004009		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl syndrome 1 (disorder)	Bardet-Biedl Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
BARDET-BIEDL SYNDROME 15	Bardet-Biedl Syndrome	GENOMICS_ENGLAND_DG	20671153, 27158779		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARDET-BIEDL SYNDROME 15	Bardet-Biedl Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARDET-BIEDL SYNDROME 15	Bardet-Biedl Syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Benign neoplasm of central nervous system	Benign Neoplasm Of Nervous System	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic sinusitis	Sinusitis	BEFREE	28001338		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	32055034	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital absence of spleen	Asplenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	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
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	GWASCAT_DG	26237428		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic liver disease	Cystic liver disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Double ureter	Double Ureter	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis of pancreas	Fibrosis Of Pancreas	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hamartoma	Hamartoma	BEFREE	25427950		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart defect, tongue hamartoma and polysyndactyly	Heart Defect, Tongue Hamartoma And Polysyndactyly	ORPHANET_DG	25427950		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart defect-tongue hamartoma-polysyndactyly syndrome	Heart Defect, Tongue Hamartoma And Polysyndactyly	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatic Fibrosis, Congenital	Congenital Hepatic Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	11559656	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lobar Holoprosencephaly	Lobar Holoprosencephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Male Pseudohermaphroditism	Male Pseudohermaphroditism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant melanoma of skin of lower limb	Malignant melanoma of skin	GWASCAT_DG	26237428		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant melanoma of skin of upper limb	Malignant melanoma of skin	GWASCAT_DG	26237428		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meckel syndrome	Meckel Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Meckel syndrome type 1	Meckel Syndrome	GENOMICS_ENGLAND_DG	20671153		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meckel-Gruber syndrome	Meckel-Gruber Syndrome	ORPHANET_DG	20671153		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Orstavik Lindemann Solberg syndrome	Orstavik Lindemann Solberg Syndrome	GENOMICS_ENGLAND_DG	20671153, 27158779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Orstavik Lindemann Solberg syndrome	Orstavik Lindemann Solberg Syndrome	UNIPROT_DG	25427950, 27158779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Orstavik Lindemann Solberg syndrome	Orstavik Lindemann Solberg Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Orstavik Lindemann Solberg syndrome	Orstavik Lindemann Solberg Syndrome	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Cyst	Pancreatic Cyst	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic liver disease	Polycystic liver disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly preaxial type 1	Polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polysyndactyly	Polysyndactyly	BEFREE	25427950		★★★★★ ★☆☆☆☆ Found in Text Mining only
Postaxial foot polydactyly	Foot Polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	GWASCAT_DG	31562322		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Respiratory Tract Diseases	Respiratory system infectious disease	Pubtator	33181258	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sclerocornea	Sclerocornea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Simple syndactyly of fingers - first web	Syndactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Subaortic stenosis	Subaortic Stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
True Hermaphroditism (disorder)	True Hermaphroditism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Urethral atresia	Urethral atresia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

WDPCP (WD repeat containing planar cell polarity effector)