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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	57539
Gene name	WD repeat domain 35
Gene symbol	WDR35
Synonyms (NCBI Gene)	CED2CFAP118FAP118IFT121IFTA1SRTD7
Chromosome	2
Chromosome location	2p24.1
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

Show/Hide all (43)

SNP ID	Visualize variation	Clinical significance	Consequence
rs74470618	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Downstream transcript variant, missense variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs75602337	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant, missense variant, coding sequence variant, downstream transcript variant
rs140308808	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant, genic upstream transcript variant
rs142103808	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, intron variant
rs143343508	T>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs144673252	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, intron variant
rs144701688	A>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs147325795	A>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs148828104	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant, intron variant
rs151047156	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs182360785	C>A,T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant, synonymous variant
rs199840434	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic upstream transcript variant
rs199952377	A>C	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, intron variant, stop gained
rs200140363	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs200649783	C>A	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs201207790	G>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs267607174	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs267607175	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs371669862	C>A,G,T	Pathogenic, likely-pathogenic	Splice donor variant, intron variant
rs387907085	G>A,C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, stop gained
rs397515334	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs397515533	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs397515535	T>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs397515536	A>T	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs431905505	A>G	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs541910371	T>C,G	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs745486923	->TC	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant
rs746128772	C>T	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, synonymous variant
rs754712378	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs756004566	CA>-	Likely-pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs758456073	G>A,T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, synonymous variant, non coding transcript variant, stop gained
rs765513105	C>T	Pathogenic-likely-pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant, genic upstream transcript variant
rs767751856	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs776631281	T>C	Pathogenic	Intron variant
rs886043316	C>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs886044119	G>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1050086118	G>A,T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs1327489348	->C	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1553313859	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1553316926	T>A	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1553317813	CCTTTAAAGACAAAAAAAAAGTTATGTTTCATT>-	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, splice acceptor variant
rs1553324519	A>T	Pathogenic	Genic upstream transcript variant, intron variant
rs1558342399	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant

103

Show/Hide all (103)

miRTarBase ID	miRNA	Experiments	Reference
MIRT695767	hsa-miR-3121-3p	HITS-CLIP	23313552
MIRT695766	hsa-miR-141-5p	HITS-CLIP	23313552
MIRT695765	hsa-miR-4528	HITS-CLIP	23313552
MIRT695764	hsa-miR-3130-3p	HITS-CLIP	23313552
MIRT695763	hsa-miR-4793-3p	HITS-CLIP	23313552
MIRT695762	hsa-miR-6866-5p	HITS-CLIP	23313552
MIRT695761	hsa-miR-340-5p	HITS-CLIP	23313552
MIRT695760	hsa-miR-5007-3p	HITS-CLIP	23313552
MIRT695759	hsa-miR-544a	HITS-CLIP	23313552
MIRT695758	hsa-miR-6738-3p	HITS-CLIP	23313552
MIRT300032	hsa-miR-5692a	PAR-CLIP	22100165
MIRT300030	hsa-miR-3163	PAR-CLIP	22100165
MIRT447429	hsa-miR-95-5p	PAR-CLIP	22100165
MIRT300032	hsa-miR-5692a	PAR-CLIP	22100165
MIRT300030	hsa-miR-3163	PAR-CLIP	22100165
MIRT447429	hsa-miR-95-5p	PAR-CLIP	22100165
MIRT695767	hsa-miR-3121-3p	HITS-CLIP	23313552
MIRT695766	hsa-miR-141-5p	HITS-CLIP	23313552
MIRT695765	hsa-miR-4528	HITS-CLIP	23313552
MIRT695764	hsa-miR-3130-3p	HITS-CLIP	23313552
MIRT695763	hsa-miR-4793-3p	HITS-CLIP	23313552
MIRT695762	hsa-miR-6866-5p	HITS-CLIP	23313552
MIRT695761	hsa-miR-340-5p	HITS-CLIP	23313552
MIRT695760	hsa-miR-5007-3p	HITS-CLIP	23313552
MIRT695759	hsa-miR-544a	HITS-CLIP	23313552
MIRT695758	hsa-miR-6738-3p	HITS-CLIP	23313552
MIRT300032	hsa-miR-5692a	PAR-CLIP	22100165
MIRT300030	hsa-miR-3163	PAR-CLIP	22100165
MIRT447429	hsa-miR-95-5p	PAR-CLIP	22100165
MIRT300032	hsa-miR-5692a	PAR-CLIP	22100165
MIRT300030	hsa-miR-3163	PAR-CLIP	22100165
MIRT447429	hsa-miR-95-5p	PAR-CLIP	22100165
MIRT1490134	hsa-miR-186	CLIP-seq
MIRT1490135	hsa-miR-28-3p	CLIP-seq
MIRT1490136	hsa-miR-3133	CLIP-seq
MIRT1490137	hsa-miR-338-5p	CLIP-seq
MIRT1490138	hsa-miR-3617	CLIP-seq
MIRT1490139	hsa-miR-3647-3p	CLIP-seq
MIRT1490140	hsa-miR-3978	CLIP-seq
MIRT1490141	hsa-miR-421	CLIP-seq
MIRT1490142	hsa-miR-4666-3p	CLIP-seq
MIRT1490143	hsa-miR-4709-5p	CLIP-seq
MIRT1490144	hsa-miR-4766-5p	CLIP-seq
MIRT1490145	hsa-miR-4768-3p	CLIP-seq
MIRT1490146	hsa-miR-641	CLIP-seq
MIRT2147812	hsa-miR-1200	CLIP-seq
MIRT2147813	hsa-miR-1207-3p	CLIP-seq
MIRT2147814	hsa-miR-3920	CLIP-seq
MIRT2147815	hsa-miR-4272	CLIP-seq
MIRT2147816	hsa-miR-4324	CLIP-seq
MIRT2147817	hsa-miR-4329	CLIP-seq
MIRT2147818	hsa-miR-4452	CLIP-seq
MIRT2147819	hsa-miR-544b	CLIP-seq
MIRT2368172	hsa-miR-4423-3p	CLIP-seq
MIRT2368173	hsa-miR-4783-5p	CLIP-seq
MIRT2368174	hsa-miR-4787-3p	CLIP-seq
MIRT2368175	hsa-miR-513a-3p	CLIP-seq
MIRT2396939	hsa-miR-1324	CLIP-seq
MIRT2396940	hsa-miR-3942-3p	CLIP-seq
MIRT2396941	hsa-miR-4514	CLIP-seq
MIRT2396942	hsa-miR-4692	CLIP-seq
MIRT2147812	hsa-miR-1200	CLIP-seq
MIRT2463408	hsa-miR-27a	CLIP-seq
MIRT2463409	hsa-miR-27b	CLIP-seq
MIRT2463410	hsa-miR-3153	CLIP-seq
MIRT2463411	hsa-miR-340	CLIP-seq
MIRT2147816	hsa-miR-4324	CLIP-seq
MIRT2147817	hsa-miR-4329	CLIP-seq
MIRT2463412	hsa-miR-513a-5p	CLIP-seq
MIRT2147819	hsa-miR-544b	CLIP-seq
MIRT2463413	hsa-miR-548a-3p	CLIP-seq
MIRT2463414	hsa-miR-548e	CLIP-seq
MIRT2463415	hsa-miR-548f	CLIP-seq
MIRT2661833	hsa-miR-1208	CLIP-seq
MIRT2661834	hsa-miR-132	CLIP-seq
MIRT2661835	hsa-miR-2053	CLIP-seq
MIRT2661836	hsa-miR-212	CLIP-seq
MIRT2661837	hsa-miR-25	CLIP-seq
MIRT2661838	hsa-miR-3160-5p	CLIP-seq
MIRT2661839	hsa-miR-32	CLIP-seq
MIRT2661840	hsa-miR-363	CLIP-seq
MIRT2661841	hsa-miR-367	CLIP-seq
MIRT2661842	hsa-miR-4279	CLIP-seq
MIRT2661843	hsa-miR-4317	CLIP-seq
MIRT2661844	hsa-miR-4326	CLIP-seq
MIRT2661845	hsa-miR-4704-5p	CLIP-seq
MIRT2661846	hsa-miR-518a-5p	CLIP-seq
MIRT2661847	hsa-miR-527	CLIP-seq
MIRT2661848	hsa-miR-564	CLIP-seq
MIRT2661849	hsa-miR-569	CLIP-seq
MIRT2661850	hsa-miR-659	CLIP-seq
MIRT2661851	hsa-miR-892a	CLIP-seq
MIRT2661852	hsa-miR-92a	CLIP-seq
MIRT2661853	hsa-miR-92b	CLIP-seq
MIRT2695206	hsa-miR-1301	CLIP-seq
MIRT2695207	hsa-miR-2964a-3p	CLIP-seq
MIRT2463410	hsa-miR-3153	CLIP-seq
MIRT2695208	hsa-miR-3684	CLIP-seq
MIRT2396941	hsa-miR-4514	CLIP-seq
MIRT2695209	hsa-miR-4660	CLIP-seq
MIRT2396942	hsa-miR-4692	CLIP-seq
MIRT2695210	hsa-miR-5047	CLIP-seq
MIRT2695211	hsa-miR-888	CLIP-seq

Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	27932497, 29220510, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IEA
GO:0005813	Component	Centrosome	ISS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	NAS	27806291
GO:0005929	Component	Cilium	TAS
GO:0005930	Component	Axoneme	IBA
GO:0005930	Component	Axoneme	IEA
GO:0005930	Component	Axoneme	ISS
GO:0030030	Process	Cell projection organization	IEA
GO:0030991	Component	Intraciliary transport particle A	IBA
GO:0030991	Component	Intraciliary transport particle A	IDA	20889716, 27932497
GO:0030991	Component	Intraciliary transport particle A	IEA
GO:0030991	Component	Intraciliary transport particle A	IPI	27173435
GO:0035721	Process	Intraciliary retrograde transport	IBA
GO:0035721	Process	Intraciliary retrograde transport	IMP	20889716
GO:0035721	Process	Intraciliary retrograde transport	NAS	27806291
GO:0036064	Component	Ciliary basal body	IEA
GO:0036064	Component	Ciliary basal body	ISS
GO:0042073	Process	Intraciliary transport	IMP	29220510
GO:0042995	Component	Cell projection	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IMP	21473986
GO:0060271	Process	Cilium assembly	NAS	27806291
GO:0061512	Process	Protein localization to cilium	IMP	29220510
GO:0097542	Component	Ciliary tip	TAS
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA

MIM	HGNC	e!Ensembl
613602	29250	ENSG00000118965

Q9P2L0

Protein name

WD repeat-containing protein 35 (Intraflagellar transport protein 121 homolog)

Protein function

As a component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in ciliogenesis and ciliary protein trafficking (PubMed:21473986, PubMed

PDB

8BBE , 8BBG , 8FGW , 8FH3

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12894	ANAPC4_WD40	121 → 214	Anaphase-promoting complex subunit 4 WD40 domain	Repeat

Sequence

MFFYLSKKISIPNNVKLQCVSWNKEQGFIACGGEDGLLKVLKLETQTDDAKLRGLAAPSN
LSMNQTLEGHSGSVQVVTWNEQYQKLTTSDENGLIIVWMLYKGSWIEEMINNRNKSVVRS
MSWNADGQKICIVYEDGAVIVGSVDGNRIWGKDLKGIQLSHVTWSADSKVLLFGMANGEI
HIYDNQGNFMIKMKLSCLVNVTGAISIAGIHWYHGTEGYVEPDCPCLAVCFDNGRCQIMR
HENDQNPVLIDTGMYVVGIQWNHMGSVLAVAGFQKAAMQDKDVNIVQFYTPFGEHLGTLK
VPGKEISALSWEGGGLKIALAVDSFIYFANIRPNYKWGYCSNTVVYAYTRPDRPEYCVVF
WDTKNNEKYVKYVKGLISITTCGDFCILATKADENHPQEENEMETFGATFVLVLCNSIGT
PLDPKYIDIVPLFVAMTKTHVIAASKEAFYTWQYRVAKKLTALEINQITRSRKEGRERIY
HVDDTPSGSMDGVLDYSKTIQGTRDPICAITASDKILIVGRESGTIQRYSLPNVGLIQKY
SLNCRAYQLSLNCNSSRLAIIDISGVLTFFDLDARVTDSTGQQVVGELLKLERRDVWDMK
WAKDNPDLFAMMEKTRMYVFRNLDPEEPIQTSGYICNFEDLEIKSVLLDEILKDPEHPNK
DYLINFEIRSLRDSRALIEKVGIKDASQFIEDNPHPRLWRLLAEAALQKLDLYTAEQAFV
RCKDYQGIKFVKRLGKLLSESMKQAEVVGYFGRFEEAERTYLEMDRRDLAIGLRLKLGDW
FRVLQLLKTGSGDADDSLLEQANNAIGDYFADRQKWLNAVQYYVQGRNQERLAECYYMLE
DYEGLENLAISLPENHKLLPEIAQMFVRVGMCEQAVTAFLKCSQPKAAVDTCVHLNQWNK
AVELAKNHSMKEIGSLLARYASHLLEKNKTLDAIELYRKANYFFDAAKLMFKIADEEAKK
GSKPLRVKKLYVLSALLIEQYHEQMKNAQRGKVKGKSSEATSALAGLLEEEVLSTTDRFT
DNAWRGAEAYHFFILAQRQLYEGCVDTALKTALHLKDYEDIIPPVEIYSLLALCACASRA
FGTCSKAFIKLKSLETLSSEQKQQYEDLALEIFTKHTSKDNRKPELDSLMEGGEGKLPTC
VATGSPITEYQFWMCSVCKHGVLAQEISHYSFCPLCHSPVG

Sequence length

1181

Interactions

View interactions

	Reactome
			Hedgehog 'off' state Intraflagellar transport

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 (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cranioectodermal dysplasia	Likely pathogenic; Pathogenic	rs199952377	RCV000826131	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cranioectodermal dysplasia 2	Likely pathogenic; Pathogenic	rs772534528, rs2103399754, rs367810877, rs778613849, rs2103406171, rs143550695, rs867715686, rs766096320, rs767788330, rs371669862, rs397515534, rs267607174, rs397515334, rs267607175, rs2527956878 View all (24 more)	RCV005023256 RCV001384852 RCV001389261 RCV005030715 RCV001865064 View all (35 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Jeune thoracic dystrophy	Pathogenic; Likely pathogenic	rs1553316926, rs776631281, rs199952377	RCV000516006 RCV000516020 RCV000515864	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short rib-polydactyly syndrome	Likely pathogenic; Pathogenic	rs886044119, rs1050086118, rs1558342399	RCV000851219 RCV000851217 RCV000851216	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short-rib thoracic dysplasia 6 with or without polydactyly	Likely pathogenic; Pathogenic	rs765513105	RCV000515824	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short-rib thoracic dysplasia 7 with or without polydactyly	Likely pathogenic; Pathogenic	rs772534528, rs2103399754, rs367810877, rs778613849, rs2103406171, rs143550695, rs867715686, rs766096320, rs767788330, rs371669862, rs397515334, rs2527956878, rs1348813250, rs1486662314, rs886044119 View all (23 more)	RCV005023256 RCV001384852 RCV001389261 RCV005030715 RCV001865064 View all (34 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY	Likely pathogenic; Pathogenic	rs886044119	RCV000578495	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
WDR35-related disorder	Likely pathogenic; Pathogenic	rs1276298140, rs2527880529, rs2527957063, rs765513105, rs199840434, rs199952377	RCV002469997 RCV004529323 RCV004528557 RCV005222974 RCV004733009 RCV000288028 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (32)

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.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASPHYXIATING THORACIC DYSPLASIA JEUNE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Connective tissue disorder	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOECTODERMAL DYSPLASIA 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ 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
Ellis-van Creveld syndrome	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJEWSKI SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT RIB DYSPLASIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT RIB POLYDACTYLY SYNDROME TYPE 5	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT RIB-POLYDACTYLY SYNDROME TYPE 5	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT RIB-POLYDACTYLY SYNDROME, VERMA-NAUMOFF TYPE	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short-rib thoracic dysplasia 7/20 with polydactyly, digenic	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ 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
Acrocephaly	Acrocephaly	CTD_human_DG	20817137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anodontia of Permanent Dentition	Anodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	30790652		★★★★★ ★☆☆☆☆ Found in Text Mining only
Biliary cirrhosis	Biliary cirrhosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	CTD_human_DG	20817137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Campomelic Dysplasia	Campomelic dysplasia	Pubtator	29921221	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Camurati-Engelmann Syndrome	Diaphyseal dysplasia	BEFREE	29174089		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	33369054	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangitis	Cholangitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	22987818, 26691894, 29174089		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	22987818	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	18472094		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	29174089		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital duplication of uterus	Congenital Duplication Of Uterus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	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	26968886		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	33009702	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cranioectodermal dysplasia	Cranioectodermal Dysplasia	BEFREE	20817137, 22987818, 24123776, 26691894, 28332779, 28870638, 29134781, 29174089, 30570184		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cranioectodermal Dysplasia	Craniodiaphyseal dysplasia	Pubtator	20817137, 22987818, 29921221, 30570184, 32007091	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cranioectodermal dysplasia	Cranioectodermal Dysplasia	CLINVAR_DG	22486404, 25914204, 28332779		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cranioectodermal dysplasia	Cranioectodermal Dysplasia	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CRANIOECTODERMAL DYSPLASIA 1	Cranioectodermal Dysplasia	BEFREE	20817137, 22987818, 24123776, 26691894, 28332779, 28870638, 29134781, 29174089, 30570184		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOECTODERMAL DYSPLASIA 1	Cranioectodermal Dysplasia	ORPHANET_DG	21438135, 22791528		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOECTODERMAL DYSPLASIA 1	Cranioectodermal Dysplasia	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOECTODERMAL DYSPLASIA 1	Cranioectodermal Dysplasia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOECTODERMAL DYSPLASIA 2	Cranioectodermal Dysplasia	UNIPROT_DG	20817137		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CRANIOECTODERMAL DYSPLASIA 2	Cranioectodermal Dysplasia	CLINVAR_DG	21473986, 22486404, 25908617, 25914204, 28332779, 28870638, 29068549		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CRANIOECTODERMAL DYSPLASIA 2	Cranioectodermal Dysplasia	GENOMICS_ENGLAND_DG	21473986, 24123776		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Craniofacial Abnormalities	Craniofacial abnormalities	Pubtator	29921221	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	CTD_human_DG	20817137		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	BEFREE	24123776		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis, Type 1	Craniosynostosis	CTD_human_DG	20817137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis Laxa	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectopic anus	Ectopic anus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ellis Van Creveld Syndrome	Ellis-van creveld syndrome	Pubtator	25908617, 29229899	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ellis-Van Creveld Syndrome	Ellis-Van Creveld Syndrome	BEFREE	25908617, 26691894, 28857138, 30790652		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Esophageal Atresia	Esophageal Atresia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Foramen Ovale, Patent	Patent foramen ovale	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic Fibrosis, Congenital	Congenital Hepatic Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	26968886		★★★★★ ★☆☆☆☆ Found in Text Mining only
Jeune thoracic dystrophy	Jeune Thoracic Dystrophy	BEFREE	30790652		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Jeune thoracic dystrophy	Jeune Thoracic Dystrophy	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	18472094		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	33369054	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphangioma, Cystic	Cystic hygroma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Majewski Syndrome	Majewski Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesomelia	Mesomelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Metopic synostosis	Metopic synostosis	CTD_human_DG	20817137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metopic synostosis	Metopic synostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9	Nail Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nail dysplasia	Nail dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	BEFREE	21473986, 22987818		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly preaxial type 1	Polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
POLYDACTYLY, POSTAXIAL	Polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polysplenia	Polysplenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhizomelia	Rhizomelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Saldino-Noonan Syndrome	Asphyxiating thoracic dystrophy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scaphycephaly	Scaphocephaly	CTD_human_DG	20817137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Short Rib-Polydactyly Syndrome	Short Rib-Polydactyly Syndrome	BEFREE	21473986, 30790652		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short Rib-Polydactyly Syndrome	Short Rib-Polydactyly Syndrome	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short Rib-Polydactyly Syndrome	Short Rib-Polydactyly Syndrome	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short rib-polydactyly syndrome type 5	Short Rib-Polydactyly Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short rib-polydactyly syndrome, Verma-Naumoff type	Short Rib-Polydactyly Syndrome	ORPHANET_DG	21473986, 22791528		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short rib-polydactyly syndrome, Verma-Naumoff type	Short Rib-Polydactyly Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY	Short Rib-Polydactyly Syndrome	ORPHANET_DG	17935248, 21473986		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY	Short Rib-Polydactyly Syndrome	CLINVAR_DG	21473986, 22486404, 25908617, 25914204, 27158779, 28332779, 28400947, 29068549		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY	Short Rib-Polydactyly Syndrome	UNIPROT_DG	21473986, 27158779, 28400947		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY	Short Rib-Polydactyly Syndrome	GENOMICS_ENGLAND_DG	21473986		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY	Short Rib-Polydactyly Syndrome	BEFREE	26691894, 28870638		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY	SHORT-RIB THORACIC DYSPLASIA WITHOUT POLYDACTYLY	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC	Short Rib-Polydactyly Syndrome	ORPHANET_DG	17935248, 21473986		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC	Short Rib-Polydactyly Syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Simple renal cyst	Renal cyst	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Synostotic Anterior Plagiocephaly	Synostotic Anterior Plagiocephaly	CTD_human_DG	20817137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Synostotic Posterior Plagiocephaly	Synostotic Posterior Plagiocephaly	CTD_human_DG	20817137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Taurodontism	Taurodontism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thoracic dysplasia	Thoracic dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	26792575		★★★★★ ★☆☆☆☆ Found in Text Mining only
Trigonocephaly	Trigonocephaly	CTD_human_DG	20817137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	33009702	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

WDR35 (WD repeat domain 35)