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	57728
Gene name	WD repeat domain 19
Gene symbol	WDR19
Synonyms (NCBI Gene)	ATD5CED4CFAP66DYF-2FAP66IFT144NPHP13ORF26Oseg6PWDMPSPGF72SRTD5
Chromosome	4
Chromosome location	4p14
Summary	The protein encoded by this gene is a member of the WD (tryptophan-aspartic acid) repeat family, which is a large family of structurally-related proteins known to participate in a wide range of cellular processes. Each WD repeat typically contains about 4

Show/Hide all (50)

SNP ID	Visualize variation	Clinical significance	Consequence
rs76599296	C>G	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs79436363	G>A	Pathogenic, uncertain-significance, pathogenic-likely-pathogenic	Missense variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs141039852	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs187546086	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs199904529	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs200266424	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs200339331	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant, non coding transcript variant
rs201597047	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs201685269	G>A,C	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs201963605	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs374400438	A>G	Pathogenic	Splice acceptor variant
rs375644378	A>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs377160857	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs387906980	T>C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs387906981	C>A,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, synonymous variant, genic downstream transcript variant
rs387906982	T>C	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs387906983	T>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs587777348	T>-,TT	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, frameshift variant
rs587777349	G>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs587777350	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs587777351	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs587777352	G>A,T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs745603321	G>A,C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs747165335	ACGG>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs748656635	->A	Pathogenic, uncertain-significance	Frameshift variant, non coding transcript variant, coding sequence variant
rs751386429	G>A,T	Likely-pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs757992911	C>-	Conflicting-interpretations-of-pathogenicity	Intron variant
rs771148519	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs772599282	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, stop gained
rs774658703	A>G,T	Pathogenic	Splice acceptor variant
rs776687469	G>C,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs780847651	T>C	Likely-pathogenic	Splice donor variant
rs786204852	T>A	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs786205114	->A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs886039814	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs886041912	G>A	Pathogenic	Splice donor variant
rs1064796985	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1064796986	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1191056931	G>A,C	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1215108056	G>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1237494778	T>C	Likely-pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs1327583103	G>A	Pathogenic	Splice acceptor variant
rs1451698951	G>A	Pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs1553905326	T>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553907440	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1553918403	A>C	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1560541088	ATTGTTAGAGAGACCCAGTCTCTGGATGGAGCCAAAA>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1577822861	T>G	Pathogenic	Intron variant, stop gained, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs1577823005	->A	Likely-pathogenic	Intron variant, 5 prime UTR variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1577943445	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant

Show/Hide all (61)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017813	hsa-miR-335-5p	Microarray	18185580
MIRT049394	hsa-miR-92a-3p	CLASH	23622248
MIRT1489821	hsa-miR-1185	CLIP-seq
MIRT1489822	hsa-miR-132	CLIP-seq
MIRT1489823	hsa-miR-148a	CLIP-seq
MIRT1489824	hsa-miR-148b	CLIP-seq
MIRT1489825	hsa-miR-152	CLIP-seq
MIRT1489826	hsa-miR-1914	CLIP-seq
MIRT1489827	hsa-miR-212	CLIP-seq
MIRT1489828	hsa-miR-2467-3p	CLIP-seq
MIRT1489829	hsa-miR-3148	CLIP-seq
MIRT1489830	hsa-miR-3190	CLIP-seq
MIRT1489831	hsa-miR-3678-3p	CLIP-seq
MIRT1489832	hsa-miR-3679-5p	CLIP-seq
MIRT1489833	hsa-miR-574-5p	CLIP-seq
MIRT1489834	hsa-miR-626	CLIP-seq
MIRT1489835	hsa-miR-942	CLIP-seq
MIRT2368101	hsa-miR-3713	CLIP-seq
MIRT2368102	hsa-miR-4742-3p	CLIP-seq
MIRT2368103	hsa-miR-4768-5p	CLIP-seq
MIRT2368104	hsa-miR-579	CLIP-seq
MIRT2661616	hsa-miR-106a	CLIP-seq
MIRT2661617	hsa-miR-106b	CLIP-seq
MIRT2661618	hsa-miR-17	CLIP-seq
MIRT2661619	hsa-miR-185	CLIP-seq
MIRT2661620	hsa-miR-20a	CLIP-seq
MIRT2661621	hsa-miR-20b	CLIP-seq
MIRT2661622	hsa-miR-3661	CLIP-seq
MIRT2661623	hsa-miR-3678-5p	CLIP-seq
MIRT2661624	hsa-miR-371-3p	CLIP-seq
MIRT2661625	hsa-miR-3978	CLIP-seq
MIRT2661626	hsa-miR-4254	CLIP-seq
MIRT2661627	hsa-miR-4306	CLIP-seq
MIRT2661628	hsa-miR-4644	CLIP-seq
MIRT2661629	hsa-miR-4715-3p	CLIP-seq
MIRT2368103	hsa-miR-4768-5p	CLIP-seq
MIRT2661630	hsa-miR-4795-5p	CLIP-seq
MIRT2661631	hsa-miR-519d	CLIP-seq
MIRT2368104	hsa-miR-579	CLIP-seq
MIRT2661632	hsa-miR-619	CLIP-seq
MIRT2661633	hsa-miR-631	CLIP-seq
MIRT2661634	hsa-miR-93	CLIP-seq
MIRT2661616	hsa-miR-106a	CLIP-seq
MIRT2661617	hsa-miR-106b	CLIP-seq
MIRT2661618	hsa-miR-17	CLIP-seq
MIRT2661619	hsa-miR-185	CLIP-seq
MIRT2661620	hsa-miR-20a	CLIP-seq
MIRT2661621	hsa-miR-20b	CLIP-seq
MIRT2661622	hsa-miR-3661	CLIP-seq
MIRT2661623	hsa-miR-3678-5p	CLIP-seq
MIRT2661624	hsa-miR-371-3p	CLIP-seq
MIRT2661625	hsa-miR-3978	CLIP-seq
MIRT2661626	hsa-miR-4254	CLIP-seq
MIRT2661627	hsa-miR-4306	CLIP-seq
MIRT2661628	hsa-miR-4644	CLIP-seq
MIRT2661629	hsa-miR-4715-3p	CLIP-seq
MIRT2661630	hsa-miR-4795-5p	CLIP-seq
MIRT2661631	hsa-miR-519d	CLIP-seq
MIRT2661632	hsa-miR-619	CLIP-seq
MIRT2661633	hsa-miR-631	CLIP-seq
MIRT2661634	hsa-miR-93	CLIP-seq

Show/Hide all (46)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0005515	Function	Protein binding	IPI	27173435, 27932497, 28514442, 29220510, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005929	Component	Cilium	IBA
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	NAS	27806291
GO:0005929	Component	Cilium	TAS
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0008406	Process	Gonad development	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0030326	Process	Embryonic limb morphogenesis	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:0031076	Process	Embryonic camera-type eye development	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0031514	Component	Motile cilium	ISS
GO:0032391	Component	Photoreceptor connecting cilium	IEA
GO:0032391	Component	Photoreceptor connecting cilium	ISS
GO:0035721	Process	Intraciliary retrograde transport	IBA
GO:0035721	Process	Intraciliary retrograde transport	IEA
GO:0035721	Process	Intraciliary retrograde transport	IMP	20889716
GO:0035721	Process	Intraciliary retrograde transport	NAS	27806291
GO:0042471	Process	Ear morphogenesis	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043113	Process	Receptor clustering	IEA
GO:0044782	Process	Cilium organization	IEA
GO:0048701	Process	Embryonic cranial skeleton morphogenesis	IEA
GO:0050877	Process	Nervous system process	IEA
GO:0055123	Process	Digestive system development	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	NAS	27806291
GO:0060831	Process	Smoothened signaling pathway involved in dorsal/ventral neural tube patterning	IEA
GO:0061055	Process	Myotome development	IEA
GO:0065003	Process	Protein-containing complex assembly	IMP	27932497
GO:0072657	Process	Protein localization to membrane	IEA
GO:0097542	Component	Ciliary tip	TAS
GO:0097730	Component	Non-motile cilium	IEA
GO:0097730	Component	Non-motile cilium	ISS
GO:1903441	Process	Protein localization to ciliary membrane	IMP	27932497

MIM	HGNC	e!Ensembl
608151	18340	ENSG00000157796

Q8NEZ3

Protein name

WD repeat-containing protein 19 (Intraflagellar transport 144 homolog)

Protein function

As 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 cilia function and/or assembly (PubMed:20889716). Essential for functio

PDB

8BBF , 8BBG , 8FGW , 8FH3

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15911	WD40_3	508 → 564	WD domain, G-beta repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Some isoforms are tissue-specific. Highly expressed in the prostate. Lower expression in the cerebellum, pituitary gland, fetal lung, and pancreas. In normal prostate, expressed in both basal and luminal epithelial cells. No expression

Sequence

MKRIFSLLEKTWLGAPIQFAWQKTSGNYLAVTGADYIVKIFDRHGQKRSEINLPGNCVAM
DWDKDGDVLAVIAEKSSCIYLWDANTNKTSQLDNGMRDQMSFLLWSKVGSFLAVGTVKGN
LLIYNHQTSRKIPVLGKHTKRITCGCWNAENLLALGGEDKMITVSNQEGDTIRQTQVRSE
PSNMQFFLMKMDDRTSAAESMISVVLGKKTLFFLNLNEPDNPADLEFQQDFGNIVCYNWY
GDGRIMIGFSCGHFVVISTHTGELGQEIFQARNHKDNLTSIAVSQTLNKVATCGDNCIKI
QDLVDLKDMYVILNLDEENKGLGTLSWTDDGQLLALSTQRGSLHVFLTKLPILGDACSTR
IAYLTSLLEVTVANPVEGELPITVSVDVEPNFVAVGLYHLAVGMNNRAWFYVLGENAVKK
LKDMEYLGTVASICLHSDYAAALFEGKVQLHLIESEILDAQEERETRLFPAVDDKCRILC
HALTSDFLIYGTDTGVVQYFYIEDWQFVNDYRHPVSVKKIFPDPNGTRLVFIDEKSDGFV
YCPVNDATYEIPDFSPTIKGVLWENWPMDKGVFIAYDDDKVYTYVFHKDTIQGAKVILAG
STKVPFAHKPLLLYNGELTCQTQSGKVNNIYLSTHGFLSNLKDTGPDELRPMLAQNLMLK
RFSDAWEMCRILNDEAAWNELARACLHHMEVEFAIRVYRRIGNVGIVMSLEQIKGIEDYN
LLAGHLAMFTNDYNLAQDLYLASSCPIAALEMRRDLQHWDSALQLAKHLAPDQIPFISKE
YAIQLEFAGDYVNALAHYEKGITGDNKEHDEACLAGVAQMSIRMGDIRRGVNQALKHPSR
VLKRDCGAILENMKQFSEAAQLYEKGLYYDKAASVYIRSKNWAKVGDLLPHVSSPKIHLQ
YAKAKEADGRYKEAVVAYENAKQWQSVIRIYLDHLNNPEKAVNIVRETQSLDGAKMVARF
FLQLGDYGSAIQFLVMSKCNNEAFTLAQQHNKMEIYADIIGSEDTTNEDYQSIALYFEGE
KRYLQAGKFFLLCGQYSRALKHFLKCPSSEDNVAIEMAIETVGQAKDELLTNQLIDHLLG
ENDGMPKDAKYLFRLYMALKQYREAAQTAIIIAREEQSAGNYRNAHDVLFSMYAELKSQK
IKIPSEMATNLMILHSYILVKIHVKNGDHMKGARMLIRVANNISKFPSHIVPILTSTVIE
CHRAGLKNSAFSFAAMLMRPEYRSKIDAKYKKKIEGMVRRPDISEIEEATTPCPFCKFLL
PECELLCPGCKNSIPYCIATGRHMLKDDWTVCPHCDFPALYSELKIMLNTESTCPMCSER
LNAAQLKKISDCTQYLRTEEEL

Sequence length

1342

Interactions

View interactions

	Reactome
			Hedgehog 'off' state Intraflagellar transport

2822

Show/Hide Causal Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Asphyxiating thoracic dystrophy 5	Likely pathogenic; Pathogenic	rs1020915921, rs1221444922, rs756329385, rs753291151, rs778039192, rs1353172956, rs1730535406, rs2109377653, rs1421636172, rs775181779, rs587777348, rs587777351, rs79436363, rs587777352, rs2109497413 View all (57 more)	RCV001970776 RCV001377034 RCV001379131 RCV001379466 RCV001383659 RCV001384582 RCV001386038 RCV001380200 RCV001536016 RCV002571163 RCV001854542 RCV001854544 RCV000653250 RCV001212609 RCV002024085 RCV002010585 RCV002050681 RCV001987849 RCV002007147 RCV001913249 RCV001946837 RCV002029683 RCV001890451 RCV001978430 RCV001981036 RCV003063595 RCV002585060 RCV002829532 RCV002862869 RCV002889379 RCV002876098 RCV002903042 RCV002937813 RCV003009720 RCV003013147 RCV003014757 RCV003037654 RCV001234299 RCV003785580 RCV003786262 RCV003789506 RCV003780680 RCV003794302 RCV003799591 RCV003805473 RCV003805719 RCV003806265 RCV003797459 RCV003802828 RCV003808526 RCV000987440 RCV001857362 RCV000023683 RCV001231474 RCV001851417 RCV001316218 RCV001851418 RCV005034059 RCV000653248 RCV002499193 RCV003768018 RCV000688346 RCV001387309 RCV001856174 RCV000987438 RCV000987439 RCV003769411 RCV001043448 RCV001211083 RCV001235420 RCV002251760 RCV002251761 RCV001880103 RCV001871671
Colon adenocarcinoma	Likely pathogenic; Pathogenic	rs587777352	RCV005887892
Cone dystrophy	Likely pathogenic; Pathogenic	rs775181779	RCV001591895
Connective tissue disorder	Likely pathogenic; Pathogenic	rs587777352, rs387906980	RCV002277157 RCV002276570
Cranioectodermal dysplasia	Likely pathogenic; Pathogenic	rs79436363, rs886039814, rs771148519	RCV000754960 RCV000256446 RCV000754959
Cranioectodermal dysplasia 4	Likely pathogenic; Pathogenic	rs1020915921, rs1353172956, rs1421636172, rs775181779, rs587777348, rs587777351, rs79436363, rs1401145684, rs2109322891, rs1237821935, rs886041912, rs1460409474, rs2475203506, rs387906980, rs387906981 View all (8 more)	RCV005032046 RCV005038190 RCV001536016 RCV002501946 RCV002498492 RCV002477273 RCV003224150 RCV002503474 RCV002248395 RCV002248396 RCV002494812 RCV003234977 RCV005038507 RCV000023681 RCV000023682 RCV005027596 RCV005034058 RCV005034059 RCV002499193 RCV005034296 RCV002225117 RCV005036256 RCV002481903
Familial cancer of breast	Likely pathogenic	rs776416706	RCV005869779
Jeune thoracic dystrophy	Likely pathogenic; Pathogenic	rs587777352, rs1553905326, rs748656635, rs377160857, rs1215108056, rs772599282, rs1191056931, rs745603321, rs747165335	RCV000516054 RCV000515976 RCV000515920 RCV000516052 RCV000516069 RCV000515874 RCV000515837 RCV000516083 RCV000754962
Leber congenital amaurosis	Likely pathogenic; Pathogenic	rs79436363	RCV001262101
Nephronophthisis 13	Likely pathogenic; Pathogenic	rs1020915921, rs1353172956, rs1421636172, rs775181779, rs587777348, rs587777350, rs587777351, rs79436363, rs587777352, rs1401145684, rs2109358597, rs886041912, rs2475127412, rs2475203506, rs2475082619 View all (13 more)	RCV005032046 RCV005038190 RCV001536016 RCV002501946 RCV002498492 RCV000115012 RCV000115013 RCV000850617 RCV001797626 RCV002503474 RCV002248394 RCV002494812 RCV003388671 RCV005038507 RCV004555796 RCV000023684 RCV000023685 RCV000850616 RCV005034058 RCV005034059 RCV002499193 RCV005034296 RCV005036110 RCV005036256 RCV002481903 RCV001175235 RCV001281113 RCV001281115
Renal dysplasia and retinal aplasia	Likely pathogenic; Pathogenic	rs1020915921, rs387906980	RCV003324579 RCV003324499
Retinal dystrophy	Likely pathogenic; Pathogenic	rs751290509	RCV001074152
Saldino-Mainzer syndrome	Likely pathogenic	rs1729264976, rs766616967	RCV001290087 RCV001290088
Senior-Loken syndrome 8	Likely pathogenic; Pathogenic	rs1020915921, rs1221444922, rs756329385, rs753291151, rs778039192, rs1353172956, rs1730535406, rs2109377653, rs1421636172, rs775181779, rs587777348, rs587777351, rs79436363, rs587777352, rs2109497413 View all (58 more)	RCV001970776 RCV001377034 RCV001379131 RCV001379466 RCV001383659 RCV001384582 RCV001386038 RCV001380200 RCV001536016 RCV002571163 RCV000115010 RCV001281118 RCV000115014 RCV000115015 RCV002024085 RCV002010585 RCV002050681 RCV001987849 RCV002007147 RCV001913249 RCV001946837 RCV002029683 RCV001890451 RCV001978430 RCV001981036 RCV002248393 RCV002288275 RCV000169776 RCV000169777 RCV003063595 RCV002585060 RCV002829532 RCV002862869 RCV002889379 RCV002876098 RCV002903042 RCV002937813 RCV003009720 RCV003013147 RCV003014757 RCV003037654 RCV000985142 RCV001234299 RCV003785580 RCV003786262 RCV003789506 RCV003780680 RCV003794302 RCV003799591 RCV003805473 RCV003805719 RCV003806265 RCV003797459 RCV003802828 RCV003808526 RCV000169775 RCV001857362 RCV000850616 RCV001851417 RCV001316218 RCV001851418 RCV005034059 RCV000653248 RCV002499193 RCV003768018 RCV000688346 RCV001387309 RCV001281117 RCV005036256 RCV003769411 RCV001043448 RCV001211083 RCV001235420 RCV001281116 RCV001880103 RCV001871671
Spermatogenic failure 72	Likely pathogenic; Pathogenic	rs1020915921, rs1353172956, rs775181779, rs587777348, rs587777351, rs79436363, rs1401145684, rs2109521864, rs886041912, rs2475203506, rs748656635, rs377160857, rs1191056931, rs771148519, rs780847651 View all (3 more)	RCV005032046 RCV005038190 RCV002501946 RCV002498492 RCV002477273 RCV005031600 RCV002503474 RCV002248399 RCV002494812 RCV005038507 RCV005027596 RCV005034058 RCV005034059 RCV002499193 RCV005034296 RCV005036110 RCV005036256 RCV002481903
Type IV short rib polydactyly syndrome	Likely pathogenic; Pathogenic	rs1451698951, rs1553918403	RCV000515949 RCV000515847
WDR19-related disorder	Likely pathogenic; Pathogenic	rs1353172956, rs79436363, rs1273811425, rs387906980, rs748656635	RCV004734164 RCV005250018 RCV004542198 RCV004532400 RCV005250067

Show/Hide Unknown Diseases (22)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs1726508523, rs1727603571	-
Acute myeloid leukemia	Likely benign	rs375839756	RCV005904676
Bardet-Biedl syndrome	Benign; Likely benign; Uncertain significance	rs576113399, rs1735527919	RCV001328232 RCV001328231
Cervical cancer	Conflicting classifications of pathogenicity; Benign	rs200133722, rs748620855	RCV005895781 RCV005871091
Cholangiocarcinoma	Benign	rs748620855	RCV005871095
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs200133722	RCV005895782
Colorectal cancer	Conflicting classifications of pathogenicity	rs200133722	RCV005895783
Craniosynostosis syndrome	Uncertain significance	rs201967816	RCV000985264
Familial prostate cancer	Benign	rs748620855	RCV005871092
Gastric cancer	Benign	rs748620855	RCV005871093
Glioma susceptibility 1	Conflicting classifications of pathogenicity; Benign	rs200133722, rs748620855	RCV005895778 RCV005871089
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	rs555557314, rs200133722	RCV005868016 RCV005895779
Intellectual disability	Uncertain significance	rs192495145	RCV001252631
Lung cancer	Conflicting classifications of pathogenicity	rs200133722	RCV005895785
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	rs555557314	RCV005868017
Nephronophthisis	Uncertain significance	rs373737104	RCV005863320
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	rs200133722	RCV005895780
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	rs200133722	RCV005895784
Retinitis pigmentosa	Uncertain significance	rs778689889, rs774806370	RCV001724291 RCV001724304
Squamous cell lung carcinoma	Benign	rs748620855	RCV005871090
Stargardt-like macular dystrophy	Uncertain significance	rs2475138360	RCV003126393
Uterine carcinosarcoma	Benign	rs748620855	RCV005871094

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Caroli Disease	Associate	23559409
Ciliopathies	Associate	22019273, 23559409, 23683095, 32055034, 33875766, 34354814, 36833411, 38062428
Cranioectodermal Dysplasia	Associate	22019273, 32007091
Down Syndrome	Associate	36833411
general anxiety disorder	Associate	36344488
Genetic Diseases Inborn	Associate	36833411
Immune dysfunction with T cell inactivation due to calcium entry defect 2	Associate	38062428
Infertility Male	Associate	32323121
Iridogoniodysgenesis and skeletal anomalies	Associate	22019273
Jeune syndrome	Associate	22019273, 31935347
Kidney Diseases	Associate	22019273
Muscular dystrophy congenital merosin negative	Associate	36833411
Myopathies Nemaline	Associate	36833218
Myotonia with Skeletal Abnormalities and Mental Retardation	Associate	38062428
Nephronophthisis familial juvenile	Associate	22019273, 38589766
Night Blindness	Associate	36833218
Nonsyndromic Deafness	Associate	32323121
Obsessive Compulsive Disorder	Associate	36344488
Pancytopenia	Associate	38589766
Pathological Conditions Anatomical	Associate	36833411
Renal Insufficiency	Associate	22019273
Retinitis Pigmentosa	Associate	23683095, 33946315
Senior Loken Syndrome	Associate	23683095
Short Rib Polydactyly Syndrome	Associate	38062428
Stargardt Disease	Associate	32055034, 36833218, 36833411
Stargardt disease 3	Associate	36833218
T Lymphocytopenia Idiopathic CD4 Positive	Associate	38589766

WDR19 (WD repeat domain 19)