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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	57539
Gene name Gene Name - the full gene name approved by the HGNC.	WD repeat domain 35
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	WDR35
Synonyms (NCBI Gene) Gene synonyms aliases	CED2, CFAP118, FAP118, IFT121, IFTA1, SRTD7
Disease Acronyms (UniProt) Disease acronyms from UniProt database	CED2, SRTD7
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2p24.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

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(28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	29220510
GO:0005813	Component	Centrosome	ISS
GO:0005929	Component	Cilium	TAS
GO:0005930	Component	Axoneme	IBA	21873635
GO:0005930	Component	Axoneme	ISS
GO:0009636	Process	Response to toxic substance	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0030991	Component	Intraciliary transport particle A	IBA	21873635
GO:0030991	Component	Intraciliary transport particle A	IDA	20889716, 27932497
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0035721	Process	Intraciliary retrograde transport	IBA	21873635
GO:0035721	Process	Intraciliary retrograde transport	IMP	20889716
GO:0035735	Process	Intraciliary transport involved in cilium assembly	TAS
GO:0036064	Component	Ciliary basal body	ISS
GO:0042073	Process	Intraciliary transport	IMP	29220510
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043280	Process	Positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IEA
GO:0045019	Process	Negative regulation of nitric oxide biosynthetic process	IEA
GO:0060271	Process	Cilium assembly	IBA	21873635
GO:0060271	Process	Cilium assembly	IMP	21473986
GO:0061512	Process	Protein localization to cilium	IMP	29220510
GO:0071333	Process	Cellular response to glucose stimulus	IEA
GO:0071356	Process	Cellular response to tumor necrosis factor	IEA
GO:0090200	Process	Positive regulation of release of cytochrome c from mitochondria	IEA
GO:0097421	Process	Liver regeneration	IEA
GO:0097542	Component	Ciliary tip	TAS
GO:1905705	Process	Cellular response to paclitaxel	IEA
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA

MIM	HGNC	e!Ensembl
613602	29250	ENSG00000118965

Protein

UniProt ID

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

Show/Hide Causal Diseases (27)

Disease term	Disease name	dbSNP ID	References
Causal
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Asphyxiating thoracic dystrophy	Saldino-Noonan Syndrome	rs137853115, rs137853025, rs1565310938, rs137853028, rs137853029, rs137853030, rs137853031, rs137853032, rs431905499, rs137853033, rs137853034, rs137853035, rs431905500, rs483352907, rs387906980 View all (112 more)
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852 View all (22 more)
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322 View all (150 more)
Cholestasis	Cholestasis	rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039
Cranioectodermal dysplasia	CRANIOECTODERMAL DYSPLASIA 1, CRANIOECTODERMAL DYSPLASIA 2, Cranioectodermal dysplasia	rs397515534, rs267607174, rs397515334, rs267607175, rs267607191, rs267607192, rs267607193, rs387906980, rs387906981, rs387907107, rs387907169, rs199952377, rs397515533, rs397515567, rs79436363 View all (13 more)	22791528, 21438135, 28870638, 25908617, 25914204, 22486404, 21473986, 28332779, 20817137, 29068549, 24123776
Craniosynostosis	Craniosynostosis, Craniosynostosis, Type 1	rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs864321680, rs864321681, rs1057517670, rs1064794325, rs1555750816, rs1599823350	20817137
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Cutis laxa	Cutis Laxa	rs80356758, rs80356750, rs119489101, rs119489102, rs193302865, rs121918374, rs121918375, rs1598354372, rs1371235353, rs1598358449, rs121918376, rs121918377, rs121918378, rs137854453, rs1797225811 View all (31 more)
Ectodermal dysplasia	Ectodermal Dysplasia	rs74315309, rs121908116, rs1558814967, rs121908450, rs121908452, rs121908453, rs797044435, rs121908454, rs121908455, rs121908456, rs797044436, rs797044437, rs137853324, rs137853325, rs137853326 View all (42 more)
Hydrops fetalis	Hydrops Fetalis	rs28935477, rs1131691986
Hyperbilirubinemia	Hyperbilirubinemia	rs34993780, rs587784535, rs797046090, rs797046091
Hypertension	Hypertensive disease	rs13306026
Jeune thoracic dystrophy	Jeune thoracic dystrophy	rs137853025, rs137853028, rs137853030, rs137853031, rs137853032, rs431905500, rs201188361, rs587776909, rs397514637, rs431905507, rs199952377, rs431905521, rs587777352, rs750396637, rs755338872 View all (122 more)
Left ventricular hypertrophy	Left Ventricular Hypertrophy	rs397516037
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805 View all (6 more)
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Polycystic kidney disease	Polycystic Kidney Diseases	rs119103233, rs886041027, rs886041028, rs137852944, rs28937907, rs137852947, rs137852948, rs137852949, rs137852950, rs267607048, rs2147483647, rs199476094, rs1567154953, rs199476095, rs199476096 View all (740 more)
Polydactyly	Polydactyly, POLYDACTYLY, POSTAXIAL, Polydactyly preaxial type 1	rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474 View all (3 more)
Renal cyst	Simple renal cyst	rs376586707, rs431905522, rs1057518761, rs1555454411, rs140039128, rs1567413573
Renal insufficiency	Renal Insufficiency	rs1596536873
Short rib-polydactyly syndrome	Short Rib-Polydactyly Syndrome, Short rib-polydactyly syndrome, Verma-Naumoff type, SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY, SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC, Short rib-polydactyly syndrome type 5	rs387907085, rs431905505, rs886037869, rs886037870, rs886044119, rs765513105, rs769724508, rs1555369050, rs1553324519, rs200335504, rs751222088, rs576969206, rs1037828930, rs1360128571, rs547679833 View all (4 more)	22791528, 21473986, 28332779, 25908617, 25914204, 22486404, 29068549, 27158779, 17935248, 28400947
Short-rib thoracic dysplasia without polydactyly	SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY	rs200335504, rs751222088
Syndactyly	Syndactyly	rs878854345, rs104893635, rs28931600, rs587777050, rs587777051, rs606231304

Show/Hide Unknown Diseases (6)

Disease term	Disease name	References	Source
Unknown
Ambiguous genitalia	Ambiguous Genitalia		ClinVar
Pulmonary hypoplasia	Congenital hypoplasia of lung		ClinVar
Renal hypoplasia	Congenital hypoplasia of kidney		ClinVar
Trigonocephaly	Trigonocephaly	20817137	ClinVar
Cranioectodermal Dysplasia	cranioectodermal dysplasia		GenCC
Short Rib-Polydactyly Syndrome	short rib-polydactyly syndrome, Verma-Naumoff type, short-rib thoracic dysplasia 7 with or without polydactyly		GenCC

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text Mining
Campomelic Dysplasia	Associate	29921221
Carcinoma Ductal	Associate	33369054
Ciliopathies	Associate	22987818
Coronary Artery Disease	Associate	33009702
Cranioectodermal Dysplasia	Associate	20817137, 22987818, 29921221, 30570184, 32007091
Craniofacial Abnormalities	Associate	29921221
Ellis Van Creveld Syndrome	Associate	25908617, 29229899
Genetic Diseases Inborn	Associate	30570184
Liver Diseases	Associate	33369054
Neointima	Associate	37703354
Short Rib Polydactyly Syndrome	Associate	22987818
Vascular Diseases	Associate	33009702

WDR35 (WD repeat domain 35)