Ciliopathy | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
CILIOPATHIES	C4277690	TOGARAM1	Unknown	—	Disgenet	—
		TRAF3IP1	Unknown	—	Disgenet	Intraflagellar transport
		TULP3	Unknown	—	Disgenet	Hedgehog 'off' state
		TXNDC15	Unknown	—	Disgenet	—
		WDPCP	Unknown	—	Disgenet	—
		WDR19	Unknown	—	Disgenet	Hedgehog 'off' state Intraflagellar transport
		ZNF423	Unknown	—	Disgenet	—
CILIOPATHY	MONDO:0005308 EFO_0003900	ARL6	Unknown	15258860 19236846 19956407 20207729 20603001 22139371 27486776 31736247 31939736 32361989 36550847	ClinGen, GWAS catalog	BBSome-mediated cargo-targeting to cilium
		BBIP1	Unknown	—	ClinGen	BBSome-mediated cargo-targeting to cilium
		CEP41	Unknown	—	ClinGen	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +4 more
		CFAP410	Unknown	—	ClinGen	—
		DDX59	Unknown	—	ClinGen	—
		IFT57	Unknown	40273360 27060890 17027958	ClinGen	Huntington disease Pathways of neurodegeneration - multiple diseases Hedgehog 'off' state +1 more
		IFT74	Unknown	27486776 33531668 33748949 34539760 37315079 37555648	ClinGen, GWAS catalog	Intraflagellar transport
		MC2R	Unknown	40465716	GWAS catalog	cAMP signaling pathway Neuroactive ligand-receptor interaction Hormone signaling +7 more
		MC5R	Unknown	40465716	GWAS catalog	Neuroactive ligand-receptor interaction Hormone signaling Peptide ligand-binding receptors +2 more
		PDE6D	Unknown	—	ClinGen	Purine metabolism Metabolic pathways ARL13B-mediated ciliary trafficking of INPP5E
		SCLT1	Unknown	24285566 28005958 28486600 30237576 30425282 32253632	Disgenet	Anchoring of the basal body to the plasma membrane
		SDCCAG8	Unknown	20835237 22626039 26968886 31534065 32432520	Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +4 more
		TOGARAM1	Unknown	32747439 32453716	CTD	—
		TOPORS	Unknown	17924349 18509552 21159800 28453362 34132027	GWAS catalog	SUMOylation of transcription cofactors SUMOylation of SUMOylation proteins SUMOylation of immune response proteins
		TRAF3IP1	Unknown	19253336 21945076 26487268 29068549	ClinGen, Orphanet	Intraflagellar transport
		TULP3	Unknown	30799239 30799240 35397207 9828123	ClinGen, GWAS catalog	Hedgehog 'off' state
		TXNDC15	Unknown	27894351 30851085 31411728 38156946	CTD, ClinGen	—
		TYR	Unknown	39024449	GWAS catalog	Tyrosine metabolism Metabolic pathways Melanogenesis +1 more
		WDPCP	Unknown	20671153 24302887 25427950 27158779 32860008 34237462 37239474	ClinGen, GWAS catalog	—
		WDR19	Unknown	22019273 22228095 23559409 23683095 25726036 29909964 33517396 33526876	ClinGen, Disgenet	Hedgehog 'off' state Intraflagellar transport
		ZNF423	Unknown	17151198 17521568 22863007 26539891 27727273 28454995 30076350 30868567 33323469 33531950	ClinGen, Disgenet	—

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