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	80184
Gene name	Centrosomal protein 290
Gene symbol	CEP290
Synonyms (NCBI Gene)	3H11AgBBS14CT87JBTS5LCA10MKS4NPHP6POC3SLSN6rd16
Chromosome	12
Chromosome location	12q21.32
Summary	This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centros

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Show/Hide all (178)

SNP ID	Visualize variation	Clinical significance	Consequence
rs11836796	T>C,G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, missense variant, non coding transcript variant
rs45502896	C>A,G,T	Likely-pathogenic, benign	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs62638179	C>A	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs62638180	TAAAG>-	Not-provided, pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs62640570	T>-,TT	Pathogenic, likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, stop gained
rs62640574	G>A	Not-provided, pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs73192874	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs77778467	T>C	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs137852832	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs137852833	A>C	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs137852834	T>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs137852835	G>A,C	Pathogenic	Non coding transcript variant, stop gained, genic upstream transcript variant, coding sequence variant, missense variant
rs140236736	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs150296134	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs181121175	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, missense variant, synonymous variant, coding sequence variant
rs182369459	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs182851622	A>G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs183655276	C>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs184143186	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs188164241	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs191613017	A>C,G	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, intron variant, missense variant
rs199770158	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, not-provided	Intron variant, genic upstream transcript variant
rs200729812	T>A	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs200818935	T>C	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs201218801	C>T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Intron variant, genic downstream transcript variant, splice donor variant
rs201295052	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs202159966	G>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs267606719	C>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs281865188	->T	Pathogenic, not-provided	Frameshift variant, non coding transcript variant, coding sequence variant
rs281865192	T>C	Pathogenic	Intron variant
rs369451049	G>A,T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs369523378	T>C	Likely-pathogenic	Splice acceptor variant
rs370119681	C>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs371159780	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs371496675	A>T	Pathogenic, likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs371525247	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs372349042	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs373913704	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs375548374	G>A,T	Likely-pathogenic	Non coding transcript variant, missense variant, stop gained, genic downstream transcript variant, 3 prime UTR variant, coding sequence variant
rs376493409	G>A,T	Pathogenic	Missense variant, stop gained, non coding transcript variant, coding sequence variant
rs376645523	C>A,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs377227262	A>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs386834148	AT>-	Pathogenic	Genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs386834149	T>-	Likely-pathogenic, pathogenic	Genic upstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant, upstream transcript variant
rs386834151	TT>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs386834152	G>A	Likely-pathogenic, pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs386834153	C>A,G	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, missense variant, stop gained, coding sequence variant
rs386834155	TT>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs386834156	CT>A	Likely-pathogenic	Genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs386834157	ATCT>-	Likely-pathogenic, pathogenic	Genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs386834158	T>-	Likely-pathogenic, pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs386834159	A>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs539400286	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs561598805	G>A,T	Likely-benign, likely-pathogenic	Non coding transcript variant, coding sequence variant, synonymous variant, stop gained
rs575767207	G>A,C	Pathogenic	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs587779733	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs587783009	C>T	Pathogenic	Splice donor variant
rs587783010	AA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs587783016	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs587783017	T>-,TT	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic downstream transcript variant
rs727503853	GTTT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs727503855	TT>-,T,TTT	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs745522483	CAAAA>-,CAAAACAAAA	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs747323414	G>-	Likely-pathogenic, uncertain-significance	Intron variant
rs747835249	CA>-	Likely-pathogenic, pathogenic	Coding sequence variant, splice donor variant, non coding transcript variant
rs748034744	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant
rs749331348	TAGT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs749439750	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs751361090	->A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs752942122	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs753884599	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs754728136	AATT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs756302731	CT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs757609119	CT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs757641323	G>A	Likely-pathogenic, pathogenic	Stop gained, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs758329611	T>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, non coding transcript variant, frameshift variant
rs760415289	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs760540562	C>T	Pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs760915898	C>T	Pathogenic-likely-pathogenic, uncertain-significance, likely-pathogenic	Splice donor variant
rs763473957	T>A,C	Likely-pathogenic	Missense variant, stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs764309755	TT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs765002773	A>C,G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, non coding transcript variant
rs765483163	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs766608755	CTTT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs766670248	C>T	Likely-pathogenic	Intron variant, splice acceptor variant, genic downstream transcript variant
rs766952056	C>T	Pathogenic	Splice donor variant
rs771266705	TTTTA>-	Pathogenic	Upstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs771454167	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic downstream transcript variant
rs772170760	T>A	Pathogenic	Intron variant, stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs773386777	T>C	Pathogenic	Splice acceptor variant
rs773622064	T>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, genic upstream transcript variant, coding sequence variant
rs776645403	G>A	Pathogenic	Non coding transcript variant, stop gained, genic upstream transcript variant, coding sequence variant
rs777464278	C>A	Likely-pathogenic	Splice acceptor variant
rs778030031	C>G,T	Likely-pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs779262951	G>A,T	Pathogenic	Synonymous variant, stop gained, non coding transcript variant, coding sequence variant
rs780225183	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs780624853	TTCT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs780805963	C>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs786205620	T>-	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs797044604	C>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs863224523	TT>-	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs863225182	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs863225183	T>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs863225184	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs863225185	A>C	Pathogenic	Non coding transcript variant, stop gained, genic upstream transcript variant, coding sequence variant
rs863225186	C>T	Pathogenic	Splice donor variant
rs863225187	G>T	Pathogenic	Stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs863225189	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs878853360	C>A,T	Uncertain-significance, likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs878853361	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs878853362	TA>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs878855334	T>A,C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs886039805	AA>-	Pathogenic	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant
rs886039808	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs886042020	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs886042153	G>A	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs886042359	T>C	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs886042360	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs886042734	CT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, 3 prime UTR variant, genic downstream transcript variant
rs886043303	CTCT>-	Pathogenic	Non coding transcript variant, frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs886044332	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs965522059	C>T	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs968692633	C>G	Pathogenic	Splice acceptor variant
rs1039146791	A>C,G	Pathogenic	Genic downstream transcript variant, intron variant
rs1057517886	T>A	Likely-pathogenic	Non coding transcript variant, stop gained, genic upstream transcript variant, coding sequence variant
rs1057518822	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1057519165	T>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, intron variant, frameshift variant, genic downstream transcript variant
rs1057519245	C>T	Likely-pathogenic	Non coding transcript variant, synonymous variant, coding sequence variant
rs1060499781	->CC	Likely-pathogenic	Non coding transcript variant, splice donor variant, coding sequence variant, genic downstream transcript variant
rs1064793733	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1064797171	->AA	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1170451277	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, upstream transcript variant, genic upstream transcript variant, stop gained, non coding transcript variant
rs1192112844	C>A,T	Likely-pathogenic	Splice acceptor variant
rs1206723575	A>G,T	Likely-pathogenic	Stop gained, non coding transcript variant, missense variant, coding sequence variant
rs1209421607	T>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1213286417	T>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1221464366	AG>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1226324483	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1272411609	G>C,T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1278679056	T>A	Pathogenic	Upstream transcript variant, coding sequence variant, non coding transcript variant, stop gained, genic upstream transcript variant
rs1290241933	G>A	Pathogenic	Stop gained, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs1294402003	->GATTA	Pathogenic	3 prime UTR variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained
rs1302558061	A>C	Pathogenic	Intron variant
rs1339975972	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1369768287	A>G	Likely-pathogenic	Splice donor variant
rs1452465499	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant
rs1459653241	G>A,C	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, missense variant
rs1465414886	G>A,C	Likely-pathogenic	Stop gained, missense variant, coding sequence variant, non coding transcript variant
rs1468942944	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1555197766	T>A	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, stop gained, genic downstream transcript variant
rs1555200648	A>T	Likely-pathogenic	Splice donor variant
rs1555201796	CTCGT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555202126	G>C	Likely-pathogenic	Intron variant
rs1555205328	C>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555208180	->G	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555208870	->T	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555212150	TC>CA	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555212271	->A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555213161	T>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555213204	T>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555216730	->T	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555218898	->T	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555220625	C>A	Pathogenic-likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555220638	A>C	Pathogenic	Intron variant
rs1555222073	C>T	Pathogenic	Intron variant
rs1555225566	T>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1565822519	->T	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592639588	C>G	Pathogenic	Splice donor variant, upstream transcript variant, genic upstream transcript variant
rs1592656929	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1592668925	G>C	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1592671618	CA>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic upstream transcript variant
rs1592671672	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic upstream transcript variant
rs1592726020	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1592784618	T>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1592807018	T>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1592808035	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1592833648	TTTA>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1592836704	C>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT885854	hsa-miR-146a	CLIP-seq
MIRT885855	hsa-miR-146b-5p	CLIP-seq

Show/Hide all (47)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001822	Process	Kidney development	IBA
GO:0005515	Function	Protein binding	IPI	16682973, 18694559, 18723859, 21565611, 21620453, 22441691, 22446187, 22797915, 22863007, 23446637, 23644468, 23943788, 24421332, 24550735, 24816561, 25416956, 25552655, 26638075, 28235840, 28514442, 32296183, 33961781, 36606424
GO:0005576	Component	Extracellular region	TAS
GO:0005634	Component	Nucleus	IDA	16682973
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	14654843
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	24648492
GO:0005813	Component	Centrosome	IDA	14654843, 16682973, 21399614, 24550735
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IDA	27623382
GO:0005814	Component	Centriole	IEA
GO:0005829	Component	Cytosol	IDA	16682973
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0015031	Process	Protein transport	IEA
GO:0015031	Process	Protein transport	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0030030	Process	Cell projection organization	IEA
GO:0030902	Process	Hindbrain development	ISS	16682973
GO:0030916	Process	Otic vesicle formation	ISS	16682973
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032391	Component	Photoreceptor connecting cilium	ISS	16682973
GO:0032991	Component	Protein-containing complex	IDA	24421332
GO:0034451	Component	Centriolar satellite	IBA
GO:0034451	Component	Centriolar satellite	IDA	22797915, 23943788
GO:0034451	Component	Centriolar satellite	IEA
GO:0035580	Component	Specific granule lumen	TAS
GO:0035869	Component	Ciliary transition zone	IBA
GO:0035869	Component	Ciliary transition zone	IDA	23943788, 36606424
GO:0036038	Component	MKS complex	ISS
GO:0036064	Component	Ciliary basal body	IEA
GO:0042462	Process	Eye photoreceptor cell development	ISS	16682973
GO:0042802	Function	Identical protein binding	IPI	18723859
GO:0042995	Component	Cell projection	IEA
GO:0043010	Process	Camera-type eye development	IBA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	16682973
GO:0048793	Process	Pronephros development	ISS	16682973
GO:0051011	Function	Microtubule minus-end binding	IDA	16682973
GO:0060271	Process	Cilium assembly	IDA	26386044
GO:0060271	Process	Cilium assembly	ISS
GO:0070201	Process	Regulation of establishment of protein localization	IMP	24421332
GO:0090316	Process	Positive regulation of intracellular protein transport	IMP	22797915
GO:0097711	Process	Ciliary basal body-plasma membrane docking	IBA
GO:1905349	Process	Ciliary transition zone assembly	IBA
GO:1905515	Process	Non-motile cilium assembly	IBA

MIM	HGNC	e!Ensembl
610142	29021	ENSG00000198707

O15078

Protein name

Centrosomal protein of 290 kDa (Cep290) (Bardet-Biedl syndrome 14 protein) (Cancer/testis antigen 87) (CT87) (Nephrocystin-6) (Tumor antigen se2-2)

Protein function

Involved in early and late steps in cilia formation. Its association with CCP110 is required for inhibition of primary cilia formation by CCP110 (PubMed:18694559). May play a role in early ciliogenesis in the disappearance of centriolar satellit

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16574	CEP209_CC5	1289 → 1416	Coiled-coil region of centrosome protein CE290	Coiled-coil

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. Expressed strongly in placenta and weakly in brain. {ECO:0000269|PubMed:11149944, ECO:0000269|PubMed:16682973}.

Sequence

MPPNINWKEIMKVDPDDLPRQEELADNLLISLSKVEVNELKSEKQENVIHLFRITQSLMK
MKAQEVELALEEVEKAGEEQAKFENQLKTKVMKLENELEMAQQSAGGRDTRFLRNEICQL
EKQLEQKDRELEDMEKELEKEKKVNEQLALRNEEAENENSKLRRENKRLKKKNEQLCQDI
IDYQKQIDSQKETLLSRRGEDSDYRSQLSKKNYELIQYLDEIQTLTEANEKIEVQNQEMR
KNLEESVQEMEKMTDEYNRMKAIVHQTDNVIDQLKKENDHYQLQVQELTDLLKSKNEEDD
PIMVAVNAKVEEWKLILSSKDDEIIEYQQMLHNLREKLKNAQLDADKSNVMALQQGIQER
DSQIKMLTEQVEQYTKEMEKNTCIIEDLKNELQRNKGASTLSQQTHMKIQSTLDILKEKT
KEAERTAELAEADAREKDKELVEALKRLKDYESGVYGLEDAVVEIKNCKNQIKIRDREIE
ILTKEINKLELKISDFLDENEALRERVGLEPKTMIDLTEFRNSKHLKQQQYRAENQILLK
EIESLEEERLDLKKKIRQMAQERGKRSATSGLTTEDLNLTENISQGDRISERKLDLLSLK
NMSEAQSKNEFLSRELIEKERDLERSRTVIAKFQNKLKELVEENKQLEEGMKEILQAIKE
MQKDPDVKGGETSLIIPSLERLVNAIESKNAEGIFDASLHLKAQVDQLTGRNEELRQELR
ESRKEAINYSQQLAKANLKIDHLEKETSLLRQSEGSNVVFKGIDLPDGIAPSSASIINSQ
NEYLIHLLQELENKEKKLKNLEDSLEDYNRKFAVIRHQQSLLYKEYLSEKETWKTESKTI
KEEKRKLEDQVQQDAIKVKEYNNLLNALQMDSDEMKKILAENSRKITVLQVNEKSLIRQY
TTLVELERQLRKENEKQKNELLSMEAEVCEKIGCLQRFKEMAIFKIAALQKVVDNSVSLS
ELELANKQYNELTAKYRDILQKDNMLVQRTSNLEHLECENISLKEQVESINKELEITKEK
LHTIEQAWEQETKLGNESSMDKAKKSITNSDIVSISKKITMLEMKELNERQRAEHCQKMY
EHLRTSLKQMEERNFELETKFAELTKINLDAQKVEQMLRDELADSVSKAVSDADRQRILE
LEKNEMELKVEVSKLREISDIARRQVEILNAQQQSRDKEVESLRMQLLDYQAQSDEKSLI
AKLHQHNVSLQLSEATALGKLESITSKLQKMEAYNLRLEQKLDEKEQALYYARLEGRNRA
KHLRQTIQSLRRQFSGALPLAQQEKFSKTMIQLQNDKLKIMQEMKNSQQEHRNMENKTLE
MELKLKGLEELISTLKDTKGAQKVINWHMKIEELRLQELKLNRELVKDKEEIKYLNNIIS
EYERTISSLEEEIVQQNKFHEERQMAWDQREVDLERQLDIFDRQQNEILNAAQKFEEATG
SIPDPSLPLPNQLEIALRKIKENIRIILETRATCKSLEEKLKEKESALRLAEQNILSRDK
VINELRLRLPATAEREKLIAELGRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQ
RLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFKQTAWDLMKQSPTPVPTNKHF
IRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEV
KKVKAEVEDLKYLLDQSQKESQCLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQ
QKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIVDRHTRELKTQVEDLNENLLK
LKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSG
LQGKPLTDNKQSLIEELQRKVKKLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQA
KIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTLQRKLKTTGMTVDQVLGIRAL
ESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFSKDT
YSKPSISGIESDDHCQREQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMC
EFLKKEKAEVQRKLGHVRGSGRSGKTIPELEKTIGLMKKVVEKVQRENEQLKKASGILTS
EKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKETDAA
EKLRIAKNNLEILNEKMTVQLEETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLK
ELETDIAKKNQSITDLKQLVKEATEREQKVNKYNEDLEQQIKILKHVPEGAETEQGLKRE
LQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDLEKQ
HLKEEIKKLKKELENFDPSFFEEIEDLKYNYKEEVKKNILLEEKVKKLSEQLGVELTSPV
AASEEFEDEEESPVNFPIY

Sequence length

2479

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 Anchoring of the basal body to the plasma membrane Neutrophil degranulation AURKA Activation by TPX2

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 (45)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal facial shape	Likely pathogenic; Pathogenic	rs763762899	RCV001270057	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of prenatal development or birth	Likely pathogenic; Pathogenic	rs727503855, rs903257336	RCV001836753 RCV001814260	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs137852832, rs863225184	RCV001836688 RCV001814112	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bardet-Biedl syndrome	Likely pathogenic	rs797044604	RCV000192446	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bardet-Biedl syndrome 14	Likely pathogenic; Pathogenic	rs2038702746, rs1404507934, rs1196938557, rs2035880971, rs1007902545, rs62640580, rs62640570, rs62640581, rs62640582, rs62640574, rs62638179, rs281865187, rs281865188, rs62638180, rs62640578 View all (379 more)	RCV001330036 RCV002504524 RCV005005228 RCV005005225 RCV003469638 View all (409 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Blindness	Pathogenic; Likely pathogenic	rs137852834, rs376493409, rs886043303, rs1057518822	RCV000415219 RCV000414892 RCV000415286 RCV000415004	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Central hypotonia	Pathogenic; Likely pathogenic	rs137852834, rs1057518822	RCV000415120 RCV000414899	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CEP290-related ciliopathy	Likely pathogenic; Pathogenic	rs62638179, rs281865187, rs281865188, rs775969711, rs879447211, rs1417251616, rs137852834, rs758550675, rs2499472817, rs771266705, rs764309755, rs1592833648, rs587783017, rs1290241933, rs386834148 View all (6 more)	RCV004593991 RCV005632241 RCV005632242 RCV005635129 RCV005635150 View all (16 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CEP290-related disorder	Likely pathogenic; Pathogenic	rs1404507934, rs62640570, rs62640574, rs62638179, rs281865187, rs62638180, rs767231715, rs779645669, rs1417251616, rs758991387, rs1223251937, rs2137720951, rs1288619268, rs2138086844, rs1478582091 View all (69 more)	RCV004531121 RCV003315227 RCV004542803 RCV000263885 RCV004732680 View all (81 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
COG7 congenital disorder of glycosylation	Likely pathogenic; Pathogenic	rs137852832	RCV001815157	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone-rod dystrophy	Pathogenic	rs886042153	RCV000787815	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cystic renal dysplasia	Pathogenic; Likely pathogenic	rs376493409, rs1555202126	RCV000626966 RCV000626967	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Encephalocele	Pathogenic	rs137852835, rs774410421	RCV001257362 RCV001257363	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Likely pathogenic; Pathogenic	rs369523378	RCV005899811	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Pathogenic; Likely pathogenic	rs376493409, rs886043303, rs763762899	RCV000414892 RCV000415286 RCV001270057	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypotonia	Likely pathogenic; Pathogenic	rs763762899	RCV001270057	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs281865192, rs2035114607	RCV001255341 RCV001255342	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome	Likely pathogenic; Pathogenic	rs2038702746, rs774705706, rs1404507934, rs1196938557, rs2136958216, rs2035880971, rs1007902545, rs2138025029, rs2138082472, rs62640580, rs62640570, rs62640581, rs62640582, rs62640572, rs62640574 View all (539 more)	RCV001863212 RCV001387506 RCV001390586 RCV001378757 RCV001377335 View all (580 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome 1	Likely pathogenic; Pathogenic	rs281865192, rs727503855, rs886042153, rs778030031, rs1039146791, rs1592836704, rs1592639588, rs1592668925, rs1434632102	RCV000988884 RCV000988888 RCV000988887 RCV000988885 RCV000988881 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome 5	Likely pathogenic; Pathogenic	rs1404507934, rs1196938557, rs2035880971, rs62640570, rs62640581, rs62640572, rs62640574, rs62638179, rs281865187, rs281865188, rs62638180, rs62640578, rs281865189, rs1374014119, rs767231715 View all (178 more)	RCV002504524 RCV005005228 RCV005005225 RCV000201666 RCV001199210 View all (198 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome and related disorders	Pathogenic	rs886039808	RCV000256429	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kidney disorder	Pathogenic	rs760540562	RCV002294351	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber congenital amaurosis	Pathogenic; Likely pathogenic	rs62640580, rs62640570, rs62640581, rs62640574, rs62638179, rs281865187, rs62638180, rs1374014119, rs779645669, rs2137182509, rs137852832, rs62635288, rs281865192, rs137852834, rs137852835 View all (62 more)	RCV001831896 RCV001271580 RCV001831897 RCV001002936 RCV001276492 View all (74 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber congenital amaurosis 10	Likely pathogenic; Pathogenic	rs1404507934, rs1381940328, rs1196938557, rs2035880971, rs62640581, rs62640574, rs62638179, rs281865187, rs281865188, rs62638180, rs62640578, rs281865189, rs1374014119, rs767231715, rs767426153 View all (157 more)	RCV002504524 RCV001376368 RCV005005228 RCV005005225 RCV002498466 View all (176 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Meckel syndrome, type 4	Likely pathogenic; Pathogenic	rs1404507934, rs1196938557, rs2035880971, rs62640581, rs62640574, rs62638179, rs281865187, rs281865188, rs62638180, rs62640578, rs281865189, rs1374014119, rs767231715, rs767426153, rs2035400071 View all (164 more)	RCV002504524 RCV005005228 RCV005005225 RCV002498466 RCV005008008 View all (182 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Meckel syndrome, type 6	Likely pathogenic; Pathogenic	rs137852832, rs267606719, rs1292516576	RCV001261607 RCV001261609 RCV001261608	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meckel-Gruber syndrome	Likely pathogenic; Pathogenic	rs2038702746, rs774705706, rs1404507934, rs1196938557, rs2136958216, rs2035880971, rs1007902545, rs2138025029, rs2138082472, rs62640580, rs62640570, rs62640581, rs62640582, rs62640572, rs62640574 View all (540 more)	RCV001863212 RCV001387506 RCV001390586 RCV001378757 RCV001377335 View all (581 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Micrognathia	Likely pathogenic; Pathogenic	rs763762899	RCV001270057	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Molar tooth sign on MRI	Pathogenic; Likely pathogenic	rs137852834, rs1057518822	RCV000415120 RCV000414899	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephronophthisis	Likely pathogenic; Pathogenic	rs2038702746, rs774705706, rs1404507934, rs1196938557, rs2136958216, rs2035880971, rs1007902545, rs2138025029, rs2138082472, rs62640580, rs62640570, rs62640581, rs62640582, rs62640572, rs62640574 View all (539 more)	RCV001863212 RCV001387506 RCV001390586 RCV001378757 RCV001377335 View all (580 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Night blindness	Pathogenic	rs1290241933	RCV001030763	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nystagmus	Pathogenic; Likely pathogenic	rs137852834, rs1057518822	RCV000415120 RCV000414899	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Occipital encephalocele	Pathogenic; Likely pathogenic	rs376493409, rs539400286, rs1555202126	RCV000626966 RCV001030764 RCV000626967	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polycystic kidney disease	Pathogenic	rs137852835, rs774410421	RCV001257362 RCV001257363	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal dysplasia and retinal aplasia	Likely pathogenic; Pathogenic	rs758991387	RCV002508962	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal disorder	Pathogenic; Likely pathogenic	rs746413821, rs757641323	RCV006272318 RCV006273017	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs62640580, rs62640570, rs137852832, rs281865192, rs137852834, rs137852835, rs587783009, rs587783017, rs370119681, rs758329611, rs2500523689, rs371525247, rs376493409, rs749439750, rs780624853 View all (48 more)	RCV004815173 RCV004815174 RCV001073790 RCV001075828 RCV001075829 View all (58 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs62638179, rs281865188, rs1295893226, rs137852832, rs281865192, rs781670422, rs758593134, rs1555216730, rs778030031, rs386834152, rs2036808766, rs2037140260	RCV001723671 RCV000678537 RCV001591911 RCV000787813 RCV000678535 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rod-cone dystrophy	Likely pathogenic; Pathogenic	rs2500938116, rs2499528307, rs2500524015, rs778907433	RCV002292433 RCV002292434 RCV002292694 RCV001030765	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Senior-Loken syndrome 1	Pathogenic	rs386834152	RCV005644503	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Senior-Loken syndrome 6	Likely pathogenic; Pathogenic	rs1404507934, rs1196938557, rs2035880971, rs62640581, rs62640574, rs62638179, rs281865187, rs281865188, rs62638180, rs62640578, rs281865189, rs1374014119, rs767231715, rs767426153, rs2035400071 View all (145 more)	RCV001335136 RCV005005228 RCV005005225 RCV002498466 RCV005008008 View all (163 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe hydrocephalus	Pathogenic	rs137852835, rs774410421	RCV001257362 RCV001257363	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic ataxia	Pathogenic	rs386834157	RCV001646988	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs886042360	RCV005895577	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine carcinosarcoma	Likely pathogenic; Pathogenic	rs760915898	RCV005895728	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (37)

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
ARIMA SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATYPICAL HEMOLYTIC UREMIC SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical hemolytic-uremic syndrome	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEP290-related ciliopathies	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ANOMALY OF THE KIDNEY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2E	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTIC DYSPLASIA OF KIDNEY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTIC KIDNEY DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL APLASIA OF THE VERMIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Genetic developmental and epileptic encephalopathy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JOUBERT SYNDROME WITH OCULORENAL DEFECT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MECKEL SYNDROME	—	Orphanet Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROGNATHISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian serous cystadenocarcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC KIDNEY DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENIOR-LOKEN SYNDROME	—	GenCC, Orphanet GenCC, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stuve-Wiedemann syndrome 2	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thymoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (194)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alstrom Syndrome	Alstrom Syndrome	BEFREE	31302159		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	BEFREE	16909394, 17148037, 17345604, 17554762, 17724218, 17898177, 17964524, 18079693, 18632300, 19753312, 19764032, 20683928, 20805370, 21245082, 21257638 View all (24 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anencephaly	Anencephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arima syndrome	Arima Syndrome	GENOMICS_ENGLAND_DG	18327255, 20690115		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arima syndrome	Arima Syndrome	ORPHANET_DG	20615230		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	Pubtator	33093519	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	20683928, 30478281		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	20683928	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	BEFREE	18327255, 18772192, 19797195, 20690115, 21052717, 21257638, 22004009, 23943788, 30970040, 31302159		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	LHGDN	18327255		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	CTD_human_DG	18327255		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bardet-Biedl syndrome	Bardet-Biedl Syndrome	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bardet-Biedl syndrome 1 (disorder)	Bardet-Biedl Syndrome	GENOMICS_ENGLAND_DG	17345604, 17564974		★★★★★ ★☆☆☆☆ Found in Text Mining only
BARDET-BIEDL SYNDROME 14 (disorder)	Bardet-Biedl Syndrome	GENOMICS_ENGLAND_DG	16909394, 18327255, 30055837		★★★★★ ★☆☆☆☆ Found in Text Mining only
BARDET-BIEDL SYNDROME 14 (disorder)	Bardet-Biedl Syndrome	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
BARDET-BIEDL SYNDROME 14 (disorder)	Bardet-Biedl Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blindness	Blindness	Pubtator	17564967, 35379979	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35271462	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Choroideremia	Choroideremia	Pubtator	30374144	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	16682970, 17558409, 17564974, 17705300, 18772192, 18950740, 19058225, 19764032, 20690115, 21245082, 21685394, 22446187, 22767577, 23943788, 24051377 View all (13 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	18950740, 19058225, 19764032, 21068128, 21866095, 26166481, 27491411, 31091803, 33105651, 34196201, 35764379, 37224330, 37371046	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coloboma of the Retina	Retinal coloboma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Color Vision Defects	Color vision deficiency	Pubtator	37642804	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone Dystrophy	Cone dystrophy	Pubtator	37642804	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophies	Cone-rod dystrophy	BEFREE	20805370		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophies	Cone-rod dystrophy	CLINVAR_DG	30718709		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	20805370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital absence of spleen	Asplenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of the kidney	Multicystic renal dysplasia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital blindness	Congenital blindness	BEFREE	25761237		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital blindness	Congenital blindness	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital blindness	Congenital blindness	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of ovary	Hypoplasia of the ovary	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital meningocele	Congenital Meningocele	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital nystagmus	Congenital nystagmus	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	BEFREE	26092869		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	19058225		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic kidney	Cystic Kidney Disease	BEFREE	25859007		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic liver disease	Cystic liver disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	35019165	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic Dysplasia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG	17345604		★★★★★ ★☆☆☆☆ Found in Text Mining only
Double ureter	Double Ureter	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	33093519, 35476505	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	CLINVAR_DG	16682970, 16682973, 16909394, 17345604, 17409309, 17564967, 17564974, 17617513, 17964524, 20079931, 20683928, 20690115, 21068128, 21153841, 21245082 View all (22 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	16682973, 17160906, 17377524, 17409309, 17507457, 17554762, 17564967, 17564974, 17617513, 17705300, 17960139, 18772192, 18950740, 23028714, 24850569 View all (8 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibrosis of pancreas	Fibrosis Of Pancreas	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	26092869		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fundus coloboma	Fundus Coloboma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Growth Disorders	Growth disorder	Pubtator	33299522, 36384729	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	2773939	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic Fibrosis, Congenital	Congenital Hepatic Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	25859007		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	33299522, 36384729	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism	Pubtator	36384729	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	20683928, 34196201, 35019165	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	BEFREE	24906019		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome 1	Joubert Syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
JOUBERT SYNDROME 5	Joubert Syndrome	UNIPROT_DG	16682970, 16682973, 22425360, 26166481, 26477546		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
JOUBERT SYNDROME 5	Joubert Syndrome	GENOMICS_ENGLAND_DG	16909394, 17345604, 17564974, 18327255, 20690115, 30055837		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
JOUBERT SYNDROME 5	Joubert Syndrome	CLINVAR_DG	17409309, 26092869		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
JOUBERT SYNDROME 5	Joubert Syndrome	BEFREE	31346239		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
JOUBERT SYNDROME 5	Joubert Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Joubert syndrome with oculorenal defect	Joubert Syndrome With Oculorenal Defect	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome	Kallmann syndrome	Pubtator	33299522	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratosis Follicularis	Keratosis Follicularis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	28973549		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	28973549, 29146704, 35352487	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leber Congenital Amaurosis	Leber Congenital Amaurosis	CLINVAR_DG	16682970, 30718709		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	BEFREE	16909394, 17345604, 17507457, 17554762, 17564974, 17705300, 17898177, 18079693, 19764032, 19959640, 20805370, 21257638, 22355252, 22446187, 22619378 View all (24 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	16909394, 17564974, 18682808, 18936139, 19764032, 19959640, 20683928, 20805370, 21153841, 21602930, 22619378, 23411883, 26626312, 27151457, 27880076 View all (15 more)	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	GENOMICS_ENGLAND_DG	17345604		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	ORPHANET_DG	25685757		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber congenital amaurosis	Leber Congenital Amaurosis	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leber Congenital Amaurosis 10	Leber congenital amaurosis	Pubtator	35379979, 37371046	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LEBER CONGENITAL AMAUROSIS 10 (disorder)	Leber Congenital Amaurosis	GENOMICS_ENGLAND_DG	16909394, 17345604, 17564974, 18327255, 19764032, 20690115, 30055837		★★★★★ ★☆☆☆☆ Found in Text Mining only
LEBER CONGENITAL AMAUROSIS 10 (disorder)	Leber Congenital Amaurosis	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
LEBER CONGENITAL AMAUROSIS 10 (disorder)	Leber Congenital Amaurosis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lobar Holoprosencephaly	Lobar Holoprosencephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular dystrophy	Macular dystrophy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Male Pseudohermaphroditism	Male Pseudohermaphroditism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Meckel syndrome	Meckel Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meckel syndrome type 1	Meckel Syndrome	BEFREE	17564974, 17705300, 18772192, 19058225, 19764032, 20690115, 21257638, 23954617, 29771326, 30970040, 31840411		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meckel syndrome type 1	Meckel-gruber syndrome	Pubtator	17564974, 19764032, 19777577, 21493627, 31840411, 34981460, 35352487	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Meckel syndrome type 1	Meckel Syndrome	GENOMICS_ENGLAND_DG	18327255, 20690115		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meckel Syndrome Type 4	Meckel-gruber syndrome	Pubtator	31840411, 35352487	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MECKEL SYNDROME, TYPE 4	Meckel Syndrome	GENOMICS_ENGLAND_DG	16909394, 17345604, 17564974, 18327255, 20690115, 30055837		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MECKEL SYNDROME, TYPE 4	Meckel Syndrome	BEFREE	23954617		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MECKEL SYNDROME, TYPE 4	Meckel Syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MECKEL SYNDROME, TYPE 4	Meckel Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Meckel-Gruber syndrome	Meckel-Gruber Syndrome	CLINVAR_DG	16682970, 16682973, 16909394, 17345604, 17409309, 17564967, 17564974, 17617513, 17964524, 20079931, 20683928, 20690115, 21068128, 21153841, 21245082 View all (22 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Meckel-Gruber syndrome	Meckel-Gruber Syndrome	ORPHANET_DG	17564974, 19466712, 21110233		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Meckel-Gruber syndrome	Meckel-Gruber Syndrome	BEFREE	17705300, 18772192, 21257638, 30970040		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcornea	Microcornea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	BEFREE	20683928		★★★★★ ★☆☆☆☆ Found in Text Mining only
MOHR-TRANEBJAERG SYNDROME	MOHR-TRANEBJAERG SYNDROME	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	CLINVAR_DG	16682970, 16682973, 16909394, 17345604, 17409309, 17564967, 17564974, 17617513, 17964524, 20079931, 20683928, 20690115, 21068128, 21153841, 21245082 View all (22 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephronophthisis	Nephronophthisis	BEFREE	16682973, 17409309, 17558409, 17960139, 19753312, 20690115		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephronophthisis	Nephronophthisis	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephronophthisis familial juvenile	Nephronophthisis	Pubtator	17617513	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nystagmus Pathologic	Nystagmus	Pubtator	34196655	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Occipital Encephalocele	Occipital Encephalocele	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	17564974	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	BEFREE	24051377, 24664739, 29856367		★★★★★ ★☆☆☆☆ Found in Text Mining only
OROFACIODIGITAL SYNDROME VI	Orofaciodigital syndrome	BEFREE	26982032		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Cyst	Pancreatic Cyst	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic liver disease	Polycystic liver disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly of toes	Polydactyly Of Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly preaxial type 1	Polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Postaxial foot polydactyly	Foot Polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal dysplasia and retinal aplasia (disorder)	Renal dysplasia and retinal aplasia	BEFREE	17564967, 17617513, 20690115, 24051377		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal dysplasia and retinal aplasia (disorder)	Renal dysplasia and retinal aplasia	GENOMICS_ENGLAND_DG	18327255, 20690115		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal dysplasia and retinal aplasia (disorder)	Renal dysplasia and retinal aplasia	ORPHANET_DG	22819833		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	22619378, 27257755, 28235840, 31212307, 33507217, 35456422	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	30664785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	31346239, 35379979, 37371046, 38160664	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	17160906, 17507457, 19461662, 27106101, 28829391, 30114557		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG	17564967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	16632484, 18079693, 25377065, 30970040, 31212307		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	30543658, 33105651, 39189993	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG	30718709		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rod-Cone Dystrophy	Rod-cone dystrophy	BEFREE	20805370		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sclerocornea	Sclerocornea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Senior Loken Syndrome	Senior-loken syndrome	Pubtator	17564967, 17617513, 19764032, 20683928, 37224330, 37642804	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Senior-Loken syndrome	Senior-Loken Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENIOR-LOKEN SYNDROME 6	Senior-Loken Syndrome	GENOMICS_ENGLAND_DG	16909394, 17345604, 17564974, 18327255, 20690115, 30055837		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SENIOR-LOKEN SYNDROME 6	Senior-Loken Syndrome	UNIPROT_DG	20683928		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SENIOR-LOKEN SYNDROME 6	Senior-Loken Syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SENIOR-LOKEN SYNDROME 6	Senior-Loken Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Simple renal cyst	Renal cyst	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Situs Inversus	Situs inversus	Pubtator	17564967	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Central	Sleep Apnea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	17960139		★★★★★ ★☆☆☆☆ Found in Text Mining only
True Hermaphroditism (disorder)	True Hermaphroditism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Urethral atresia	Urethral atresia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	23411883, 31212307	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

CEP290 (centrosomal protein 290)