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	8481
Gene name	OFD1 centriole and centriolar satellite protein
Gene symbol	OFD1
Synonyms (NCBI Gene)	71-7ACXorf5JBTS10RP23SGBS2
Chromosome	X
Chromosome location	Xp22.2
Summary	This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not su

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Show/Hide all (127)

SNP ID	Visualize variation	Clinical significance	Consequence
rs122460150	A>C	Pathogenic	Coding sequence variant, missense variant
rs139444990	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, upstream transcript variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant
rs143954823	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Missense variant, coding sequence variant
rs199902986	A>G	Conflicting-interpretations-of-pathogenicity	Upstream transcript variant, genic upstream transcript variant, intron variant, splice acceptor variant
rs201675886	T>C	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant, 5 prime UTR variant, coding sequence variant, synonymous variant
rs312262819	T>C	Pathogenic	Genic upstream transcript variant, intron variant, 5 prime UTR variant, coding sequence variant, missense variant
rs312262820	A>G	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant, genic upstream transcript variant
rs312262821	TGGTTTGGCAAAAGAAAAG>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs312262822	G>-	Pathogenic	Splice donor variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs312262823	->G	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, splice acceptor variant
rs312262825	C>T	Pathogenic	5 prime UTR variant, coding sequence variant, genic upstream transcript variant, stop gained
rs312262826	C>G,T	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, stop gained, synonymous variant
rs312262827	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant, genic upstream transcript variant
rs312262828	C>G	Pathogenic	Intron variant, genic upstream transcript variant
rs312262829	A>G	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs312262830	GAAA>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs312262831	A>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs312262832	T>-	Pathogenic	Splice donor variant, genic upstream transcript variant
rs312262833	T>C,G	Pathogenic	Intron variant, genic upstream transcript variant
rs312262834	->T	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs312262835	T>A	Pathogenic	5 prime UTR variant, coding sequence variant, genic upstream transcript variant, stop gained
rs312262836	C>T	Pathogenic	5 prime UTR variant, coding sequence variant, genic upstream transcript variant, stop gained
rs312262837	AAAGC>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs312262838	A>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs312262839	ATAGAA>-	Pathogenic	Inframe deletion, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs312262840	GA>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs312262841	C>T	Pathogenic	5 prime UTR variant, coding sequence variant, genic upstream transcript variant, stop gained
rs312262842	A>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs312262844	C>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs312262845	AA>-,A,AAA	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs312262846	AAAAGTATGAAAA>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs312262849	T>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs312262850	->G	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs312262851	C>T	Pathogenic	5 prime UTR variant, coding sequence variant, genic upstream transcript variant, stop gained
rs312262852	AA>-	Pathogenic	Upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs312262853	AGAAA>-	Pathogenic	Upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs312262855	AA>-	Pathogenic	Upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs312262856	G>-	Pathogenic	Upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs312262857	A>G,T	Pathogenic	Upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, stop gained, missense variant
rs312262858	AT>-	Pathogenic	Upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs312262859	->GA	Pathogenic	Upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs312262860	G>-	Pathogenic	Upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs312262861	A>G,T	Pathogenic	5 prime UTR variant, intron variant, splice acceptor variant
rs312262862	GAAGGATG>TTTTTCCT	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant, intron variant
rs312262863	C>G,T	Uncertain-significance, pathogenic	Intron variant, 5 prime UTR variant, coding sequence variant, stop gained, missense variant
rs312262865	AATT>-	Pathogenic	Intron variant
rs312262866	->A	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, intron variant
rs312262867	A>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, intron variant
rs312262868	AATC>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, intron variant
rs312262869	AGG>-	Pathogenic	Splice donor variant, 5 prime UTR variant, coding sequence variant, intron variant
rs312262870	G>-	Pathogenic	Splice donor variant, 5 prime UTR variant, coding sequence variant, intron variant
rs312262871	AAAAC>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs312262872	C>-	Pathogenic	Coding sequence variant, stop gained
rs312262873	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs312262874	AAGAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs312262875	AGAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs312262876	TG>-	Pathogenic	Frameshift variant, coding sequence variant
rs312262877	T>A	Pathogenic	Coding sequence variant, stop gained
rs312262878	CTTA>-	Pathogenic	Frameshift variant, coding sequence variant
rs312262879	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs312262880	C>T	Pathogenic	Coding sequence variant, stop gained
rs312262881	TT>-	Pathogenic	Frameshift variant, coding sequence variant
rs312262882	AGAACTA>-	Pathogenic	Frameshift variant, coding sequence variant
rs312262883	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs312262884	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs312262885	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs312262886	->TA	Pathogenic	Frameshift variant, coding sequence variant
rs312262887	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs312262888	->A	Pathogenic	Frameshift variant, coding sequence variant
rs312262889	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs312262890	AAAG>-,AAAGAAAG	Pathogenic	Frameshift variant, coding sequence variant
rs312262891	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs312262892	G>T	Pathogenic	Splice acceptor variant
rs312262893	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs312262894	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs312262895	AGACAAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs397507557	AAAGTCT>-	Pathogenic	Splice donor variant, genic upstream transcript variant, intron variant
rs397507558	TAA>-	Pathogenic	Splice donor variant, genic upstream transcript variant, intron variant
rs397515380	ACACTTGGGCTCAA>-	Pathogenic	Upstream transcript variant, genic upstream transcript variant, intron variant
rs398122866	TTAAAATGGAAGCAAAAA>-	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, inframe deletion, coding sequence variant
rs398123809	A>C	Pathogenic	Splice acceptor variant
rs398123810	->CT	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant
rs587784231	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs730880283	A>G	Pathogenic	Upstream transcript variant, genic upstream transcript variant, intron variant
rs746612831	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs749448671	AA>-,AAA	Uncertain-significance, pathogenic	5 prime UTR variant, intron variant, frameshift variant, coding sequence variant
rs769923969	C>G,T	Likely-pathogenic	Intron variant
rs780268478	A>-	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant, frameshift variant, intron variant, coding sequence variant
rs797044917	T>C	Likely-pathogenic	Genic upstream transcript variant, missense variant, upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs797044945	TAAAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs863225211	G>T	Pathogenic	Genic upstream transcript variant, intron variant, missense variant, 5 prime UTR variant, coding sequence variant
rs863225212	C>T	Pathogenic	Stop gained, coding sequence variant
rs886039813	C>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs886039859	CT>-	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, intron variant, frameshift variant, coding sequence variant
rs886039860	T>C,G	Pathogenic	Genic upstream transcript variant, initiator codon variant, missense variant, 5 prime UTR variant, coding sequence variant
rs886039861	GA>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs886039862	G>A	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs886039863	->G	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs886039864	C>T	Pathogenic	Stop gained, coding sequence variant
rs886039865	->C	Pathogenic	Frameshift variant, coding sequence variant
rs886041992	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057518526	->T	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant, 5 prime UTR variant
rs1060500123	C>T	Pathogenic	Coding sequence variant, stop gained
rs1131691619	GT>-	Pathogenic	Splice donor variant, intron variant
rs1131691889	GAT>-	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, inframe deletion, 5 prime UTR variant
rs1555901137	T>A	Pathogenic	Missense variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs1555901146	C>-	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1555901169	G>T	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1555902640	->A	Pathogenic	Stop gained, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs1555902797	A>G	Likely-pathogenic	Intron variant, genic upstream transcript variant
rs1555902866	G>T	Pathogenic	Stop gained, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs1555904005	C>T	Likely-pathogenic	Intron variant, stop gained, 5 prime UTR variant, coding sequence variant
rs1555904480	AACTT>-	Likely-pathogenic	Intron variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1555906894	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555907034	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1569102786	G>T	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1569122408	A>G	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1569128307	AA>-	Pathogenic	Coding sequence variant, upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant, frameshift variant
rs1569141500	C>G	Pathogenic	Coding sequence variant, stop gained
rs1569145145	TT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1569162748	AAATT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569163423	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1569164733	G>T	Pathogenic	Coding sequence variant, stop gained
rs1569164829	G>T	Pathogenic	Coding sequence variant, stop gained
rs1602826217	AG>TATA	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, 5 prime UTR variant
rs1602904530	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1602942625	AAAAA>-	Likely-pathogenic	Coding sequence variant, frameshift variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT029155	hsa-miR-26b-5p	Microarray	19088304
MIRT050901	hsa-miR-17-5p	CLASH	23622248
MIRT2286724	hsa-miR-1253	CLIP-seq
MIRT2286725	hsa-miR-4434	CLIP-seq
MIRT2286726	hsa-miR-4516	CLIP-seq
MIRT2286727	hsa-miR-4531	CLIP-seq

Show/Hide all (40)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000278	Process	Mitotic cell cycle	ISS
GO:0005515	Function	Protein binding	IPI	17761535, 19800048, 20835237, 21988832, 23789104, 24089205, 24997988, 26496610, 26638075, 33368531, 33934390
GO:0005576	Component	Extracellular region	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IDA	21399614, 33934390
GO:0005814	Component	Centriole	IDA	20230748
GO:0005814	Component	Centriole	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IDA	20230748
GO:0005929	Component	Cilium	IEA
GO:0007099	Process	Centriole replication	ISS
GO:0010172	Process	Embryonic body morphogenesis	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0030030	Process	Cell projection organization	IEA
GO:0031514	Component	Motile cilium	IBA
GO:0034451	Component	Centriolar satellite	IEA
GO:0034451	Component	Centriolar satellite	ISS
GO:0035082	Process	Axoneme assembly	IEA
GO:0036064	Component	Ciliary basal body	IBA
GO:0036064	Component	Ciliary basal body	IDA	33934390
GO:0036064	Component	Ciliary basal body	IDA	20230748
GO:0036064	Component	Ciliary basal body	IEA
GO:0042802	Function	Identical protein binding	IPI	17761535
GO:0042995	Component	Cell projection	IEA
GO:0043014	Function	Alpha-tubulin binding	IEA
GO:0043014	Function	Alpha-tubulin binding	ISS
GO:0043015	Function	Gamma-tubulin binding	IEA
GO:0043015	Function	Gamma-tubulin binding	ISS
GO:0060090	Function	Molecular adaptor activity	IMP	19800048
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IMP	33934390
GO:0060271	Process	Cilium assembly	ISS
GO:0060287	Process	Epithelial cilium movement involved in determination of left/right asymmetry	IEA
GO:0060287	Process	Epithelial cilium movement involved in determination of left/right asymmetry	ISS
GO:0090307	Process	Mitotic spindle assembly	ISS
GO:2000314	Process	Negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation	IEA

MIM	HGNC	e!Ensembl
300170	2567	ENSG00000046651

O75665

Protein name

Centriole and centriolar satellite protein OFD1 (Oral-facial-digital syndrome 1 protein) (Protein 71-7A)

Protein function

Component of the centrioles controlling mother and daughter centrioles length. Recruits to the centriole IFT88 and centriole distal appendage-specific proteins including CEP164 (By similarity). Involved in the biogenesis of the cilium, a centrio

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16045	LisH_2	74 → 101	LisH	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Expressed in 9 and 14 weeks old embryos in metanephric mesenchyme, oral mucosa, lung, heart, nasal and cranial cartilage, and brain. Expressed in metanephros, brain, tongue, and limb. {ECO:0000269|PubMed:12595504}.

Sequence

MMAQSNMFTVADVLSQDELRKKLYQTFKDRGILDTLKTQLRNQLIHELMHPVLSGELQPR
SISVEGSSLLIGASNSLVADHLQRCGYEYSLSVFFPESGLAKEKVFTMQDLLQLIKINPT
SSLYKSLVSGSDKENQKGFLMHFLKELAEYHQAKESCNMETQTSSTFNRDSLAEKLQLID
DQFADAYPQRIKFESLEIKLNEYKREIEEQLRAEMCQKLKFFKDTEIAKIKMEAKKKYEK
ELTMFQNDFEKACQAKSEALVLREKSTLERIHKHQEIETKEIYAQRQLLLKDMDLLRGRE
AELKQRVEAFELNQKLQEEKHKSITEALRRQEQNIKSFEETYDRKLKNELLKYQLELKDD
YIIRTNRLIEDERKNKEKAVHLQEELIAINSKKEELNQSVNRVKELELELESVKAQSLAI
TKQNHMLNEKVKEMSDYSLLKEEKLELLAQNKLLKQQLEESRNENLRLLNRLAQPAPELA
VFQKELRKAEKAIVVEHEEFESCRQALHKQLQDEIEHSAQLKAQILGYKASVKSLTTQVA
DLKLQLKQTQTALENEVYCNPKQSVIDRSVNGLINGNVVPCNGEISGDFLNNPFKQENVL
ARMVASRITNYPTAWVEGSSPDSDLEFVANTKARVKELQQEAERLEKAFRSYHRRVIKNS
AKSPLAAKSPPSLHLLEAFKNITSSSPERHIFGEDRVVSEQPQVGTLEERNDVVEALTGS
AASRLRGGTSSRRLSSTPLPKAKRSLESEMYLEGLGRSHIASPSPCPDRMPLPSPTESRH
SLSIPPVSSPPEQKVGLYRRQTELQDKSEFSDVDKLAFKDNEEFESSFESAGNMPRQLEM
GGLSPAGDMSHVDAAAAAVPLSYQHPSVDQKQIEEQKEEEKIREQQVKERRQREERRQSN
LQEVLERERRELEKLYQERKMIEESLKIKIKKELEMENELEMSNQEIKDKSAHSENPLEK
YMKIIQQEQDQESADKSSKKMVQEGSLVDTLQSSDKVESLTGFSHEELDDSW

Sequence length

1012

Interactions

View interactions

	Reactome
			Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes Loss of proteins required for interphase microtubule organization from the centrosome Recruitment of NuMA to mitotic centrosomes Hedgehog 'off' state Anchoring of the basal body to the plasma membrane AURKA Activation by TPX2

2109

Show/Hide Causal Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cerebellar vermis hypoplasia	Likely pathogenic	rs2047914412	RCV001391275
COACH syndrome	Pathogenic	rs312262845	RCV002463622
Joubert syndrome	Pathogenic; Likely pathogenic	rs312262809, rs2147082213, rs2147016815, rs2146984250, rs2518886212, rs2518940054, rs750227810, rs797044945, rs2518959653, rs863225212, rs983722470, rs766872363, rs1252017658, rs2518759610, rs2518924877 View all (28 more)	RCV001380141 RCV001387144 RCV001977855 RCV001946980 RCV005215922 RCV003064670 RCV002596430 RCV000688416 RCV002862271 RCV001383220 RCV003055752 RCV003782318 RCV003808198 RCV003805461 RCV003805472 RCV003803794 RCV003795182 RCV003809322 RCV003801994 RCV003815369 RCV000465580 RCV000533164 RCV000536651 RCV002514145 RCV005222714 RCV001383219 RCV003050589 RCV000687996 RCV001045035 RCV003041423 RCV000701027 RCV001852687 RCV000638945 RCV000638944 RCV000697557 RCV000706240 RCV000706155 RCV000758012 RCV000758013 RCV000758014 RCV001054764 RCV001234156 RCV001239727
Joubert syndrome 10	Pathogenic; Likely pathogenic	rs2147027077, rs2147060430, rs863225211, rs863225212, rs312262895, rs312262894, rs2518939102, rs1131691889, rs398122866, rs312262868, rs312262810, rs312262830, rs312262845, rs2047914412, rs2047299277	RCV001535950 RCV001806695 RCV000201699 RCV000201562 RCV000012300 RCV000012301 RCV003337711 RCV003152713 RCV000029157 RCV002504861 RCV002496509 RCV000590449 RCV002482947 RCV001253756 RCV001255998
Kidney failure	Pathogenic	rs2518924877	RCV005626862
OFD1-related disorder	Likely pathogenic; Pathogenic	rs2518778078, rs2518821166, rs1060500123, rs312262871, rs312262845	RCV004723318 RCV004534484 RCV002279956 RCV004531568 RCV004737169 RCV004737170
Orofacial-digital syndrome III	Pathogenic	rs886039813	RCV000256422
Orofaciodigital syndrome I	Likely pathogenic; Pathogenic	rs2047796952, rs312262809, rs2147082213, rs2147027077, rs2147060461, rs2146913390, rs2147016815, rs2146984250, rs2518911065, rs2518886212, rs2518940054, rs750227810, rs797044945, rs2518959653, rs863225212 View all (57 more)	RCV001331084 RCV001380141 RCV001387144 RCV001535950 RCV001808142 RCV001808180 RCV001977855 RCV001946980 RCV003992627 RCV005215922 RCV003064670 RCV002596430 RCV000688416 RCV002862271 RCV001383220 RCV003055752 RCV003223605 RCV004760471 RCV000012293 RCV000012294 RCV000012296 RCV000012297 RCV000033991 RCV003232908 RCV003444082 RCV003782318 RCV003808198 RCV003805461 RCV003805472 RCV003803794 RCV003795182 RCV003809322 RCV003801994 RCV003815369 RCV003990328 RCV004545917 RCV004556918 RCV000465580 RCV000533164 RCV000536651 RCV000033955 RCV002504861 RCV001383219 RCV003050589 RCV005603828 RCV004786290 RCV000687996 RCV000034007 RCV000850574 RCV000034022 RCV003041423 RCV000701027 RCV002272036 RCV002290162 RCV000034052 RCV000623454 RCV000638945 RCV000638944 RCV000677724 RCV000677725 RCV000677727 RCV000677728 RCV000677729 RCV000680173 RCV000697557 RCV000706240 RCV000706155 RCV000985086 RCV001027698 RCV001029766 RCV001054764 RCV001171313 RCV001234156 RCV001239727 RCV001293678
Polymicrogyria	Likely pathogenic	rs2047914412	RCV001391275
Primary ciliary dyskinesia	Pathogenic; Likely pathogenic	rs2147082213, rs2147086302, rs2147086315, rs2518777923, rs2518886212, rs797044945, rs2518857883, rs1060500123, rs312262868, rs1569122408, rs1569162748, rs1569164829, rs1569164733, rs1569163423, rs2047909739	RCV005692338 RCV001849688 RCV001849689 RCV004050436 RCV004062317 RCV001849335 RCV004093809 RCV003448908 RCV004821966 RCV004026883 RCV000757955 RCV000758012 RCV000758013 RCV000758014 RCV001255273
Respiratory ciliopathies including non-CF bronchiectasis	Pathogenic	rs1060500123	RCV005252898
Retinal dystrophy	Likely pathogenic; Pathogenic	rs863225212	RCV003888641
Retinitis pigmentosa 23	Pathogenic	rs730880283, rs2147027077, rs312262868, rs312262810, rs312262830, rs312262845	RCV000087736 RCV001535950 RCV002504861 RCV002496509 RCV002482946 RCV002482947
Simpson-Golabi-Behmel syndrome	Pathogenic	rs312262845	RCV004798753
Simpson-Golabi-Behmel syndrome type 2	Pathogenic; Likely pathogenic	rs2147027077, rs2146970113, rs1019055469, rs312262890, rs312262868, rs312262810, rs312262830, rs312262845, rs2047747647	RCV001535950 RCV002250165 RCV003142471 RCV000012299 RCV002504861 RCV002496509 RCV000850574 RCV002482947 RCV001194622
Thyroid cancer, nonmedullary, 1	Pathogenic; Likely pathogenic	rs2147027077, rs1569102786	RCV005914516 RCV005901745
Ventriculomegaly	Likely pathogenic	rs2047914412	RCV001391275

Show/Hide Unknown Diseases (25)

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	rs397515380	-
Abnormal nail morphology	Uncertain significance	rs1394450537	RCV000626849
Bifid nail	Uncertain significance	rs1394450537	RCV000626849
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	Conflicting classifications of pathogenicity	rs770614769	RCV005863261
Cervical cancer	Likely benign; Benign; Conflicting classifications of pathogenicity	rs138721221, rs17311049, rs758883184	RCV005917627 RCV005916713 RCV005923905
Cholangiocarcinoma	Benign	rs141160969	RCV005918358
Ciliopathy	Benign; Likely benign	rs200465596	RCV005355870
Congenital anomaly of kidney and urinary tract	Conflicting classifications of pathogenicity	rs199902986	RCV001254710
Congenital cerebellar hypoplasia	Benign; Likely benign	rs529916753	RCV005625618
Familial cancer of breast	Likely benign	rs746956954	RCV005869948
Gastric cancer	Benign	rs17311049	RCV005916714
Hepatocellular carcinoma	Benign	rs17311049	RCV005916712
History of neurodevelopmental disorder	Conflicting classifications of pathogenicity; Uncertain significance	rs146251034, rs776834508	RCV000721041 RCV000721039
Intellectual disability	Conflicting classifications of pathogenicity; Benign; Likely benign	rs760663674, rs532274932, rs142352920, rs2046874934, rs766600036, rs2048228026	RCV005626517 RCV005626597 RCV005625349 RCV001252088 RCV001252089 RCV001252087
Lung cancer	Benign	rs17311049	RCV005916717
Lymphoma	Benign	rs17311049	RCV005916715
Malignant tumor of urinary bladder	Likely benign; Conflicting classifications of pathogenicity	rs369277849, rs199902986	RCV005921016 RCV005889711
Nonpapillary renal cell carcinoma	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs2146904488, rs1355239331, rs1190659995, rs146279923, rs199902986, rs770888228, rs369907022	RCV005917503 RCV005920710 RCV005920731 RCV005928293 RCV005889712 RCV005931157 RCV005934901
OFD1-related ciliopathy	Uncertain significance	rs2146904488, rs1569151549	RCV001563662 RCV002260576
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance	rs17311049, rs141160969, rs779494159	RCV005916716 RCV005918357 RCV005928411
Peripheral precocious puberty	Uncertain significance	rs2047489418, rs2146992262	RCV001374424 RCV001374432
Polydactyly, postaxial, type A1	Uncertain significance	rs1394450537	RCV000626849
Rare genetic intellectual disability	Conflicting classifications of pathogenicity	rs748643730	RCV001257024
Ridged nail	Uncertain significance	rs1394450537	RCV000626849
Uterine corpus endometrial carcinoma	Benign	rs17311049, rs141160969	RCV005916718 RCV005918359

Show/Hide Text Mining Associations (40)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Agenesis of Cerebellar Vermis	Associate	22619378, 30581852
Autism Spectrum Disorder	Associate	32193494
Autistic Disorder	Associate	36833254
Brachydactyly	Associate	31243241
Calcinosis	Associate	25180832
Carcinogenesis	Associate	19587378
Ciliary Motility Disorders	Associate	39180133, 39766900
Ciliopathies	Associate	22619378, 23033313, 35398350, 35764379
Cleft Palate	Associate	22723972
Congenital Abnormalities	Associate	36833254
Craniofacial Abnormalities	Associate	25180832
Dandy Walker variant	Associate	30581852
Developmental Disabilities	Associate	36833254
Familial paroxysmal dystonia	Associate	25180832
Fused Kidney	Associate	31243241
Genetic Diseases X Linked	Associate	30581852
Hypothalamic hamartomas	Associate	35137044, 35398350
Joubert Syndrome 10	Associate	23033313, 30581852
Joubert syndrome 2	Associate	23033313
Kidney Diseases Cystic	Associate	25180832
Language Development Disorders	Associate	36833254
Leber Congenital Amaurosis	Associate	22619378
Monoclonal Gammopathy of Undetermined Significance	Associate	19587378
Mouth Abnormalities	Associate	36833254
Multiple Myeloma	Associate	19587378
Neoplasms	Associate	35753349
Orofaciodigital syndrome type1	Associate	11179005, 36833254
Orofaciodigital Syndromes	Associate	11179005, 19587378, 22619378, 23033313, 24997988, 26593159, 31243241, 35398350, 39766900
Orofaciodigital Syndromes	Stimulate	36833254
Periventricular Nodular Heterotopia	Associate	36833254
Polycystic Kidney Autosomal Dominant	Associate	25180832
Polycystic Kidney Diseases	Associate	25180832, 31243241
Progressive hearing loss stapes fixation	Associate	23033313
Retinal Degeneration	Associate	22619378
Retinitis Pigmentosa	Associate	29843741
Retinitis Pigmentosa 2	Associate	22619378, 40119724
Simpson Golabi Behmel Syndrome Type 2	Associate	22619378, 23033313, 39766900
Spinocerebellar Ataxia 29	Associate	23033313
Syndactyly	Associate	30581852
Vitiligo	Inhibit	38139355

OFD1 (OFD1 centriole and centriolar satellite protein)