Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
CILIOPATHIES	C4277690 MESH:D000072661	ADAMTS9	Unknown	—	Disgenet	Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
		ARL2BP	Unknown	—	Disgenet	Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane
		B9D1	Unknown	—	Disgenet	Anchoring of the basal body to the plasma membrane
		B9D2	Unknown	—	Disgenet	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion +4 more
		BBS1	Unknown	—	Disgenet	BBSome-mediated cargo-targeting to cilium
		BBS10	Unknown	—	Disgenet	BBSome-mediated cargo-targeting to cilium
		BBS12	Unknown	—	Disgenet	BBSome-mediated cargo-targeting to cilium
		BBS2	Unknown	—	Disgenet	BBSome-mediated cargo-targeting to cilium
		BBS4	Unknown	—	Disgenet	BBSome-mediated cargo-targeting to cilium
		BBS7	Unknown	—	Disgenet	BBSome-mediated cargo-targeting to cilium
		BBS9	Unknown	—	Disgenet	BBSome-mediated cargo-targeting to cilium
		CBY1	Unknown	—	Disgenet	Wnt signaling pathway Deactivation of the beta-catenin transactivating complex
		CC2D1A	Unknown	—	Disgenet	—
		CC2D2A	Unknown	—	Disgenet	Anchoring of the basal body to the plasma membrane
		CCP110	Unknown	—	Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more
		CEP104	Unknown	—	Disgenet	—
		CEP120	Unknown	—	Disgenet	—
		CEP164	Unknown	—	Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +4 more
		CEP83	Unknown	—	Disgenet	Anchoring of the basal body to the plasma membrane
		CFAP418	Unknown	—	Disgenet	—
		CIBAR1	Unknown	30395363	CTD, Disgenet	—
		DCDC2	Unknown	—	Disgenet	—
		DLG5	Unknown	—	Disgenet	Hippo signaling pathway
		DNAJB11	Unknown	—	Disgenet	Protein processing in endoplasmic reticulum XBP1(S) activates chaperone genes
		DYNC2H1	Unknown	—	Disgenet	Phagosome Motor proteins Vasopressin-regulated water reabsorption +3 more
		IFT172	Unknown	—	Disgenet	Hedgehog 'off' state Intraflagellar transport
		IFT27	Unknown	—	Disgenet	Intraflagellar transport
		IFT43	Unknown	—	Disgenet	Intraflagellar transport
		IFT81	Unknown	—	Disgenet	Intraflagellar transport
		IQCB1	Unknown	—	Disgenet	Anchoring of the basal body to the plasma membrane
		KATNIP	Unknown	—	Disgenet	—
		KIF11	Unknown	—	Disgenet	Motor proteins MHC class II antigen presentation COPI-dependent Golgi-to-ER retrograde traffic +1 more
		KIF3B	Unknown	—	Disgenet	Motor proteins MHC class II antigen presentation Intraflagellar transport +2 more
		LRRC45	Unknown	—	Disgenet	—
		LZTFL1	Unknown	—	Disgenet	BBSome-mediated cargo-targeting to cilium
		MKS1	Unknown	—	Disgenet	Hedgehog 'off' state Anchoring of the basal body to the plasma membrane
		NEK4	Unknown	—	Disgenet	—
		OFD1	Unknown	—	Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more
		PIBF1	Unknown	—	Disgenet	—
		POC1B	Unknown	—	Disgenet	—
		RPGRIP1L	Unknown	—	Disgenet	Hedgehog 'off' state Anchoring of the basal body to the plasma membrane
		SUFU	Unknown	—	Disgenet	Hedgehog signaling pathway Pathways in cancer Basal cell carcinoma +4 more
		TBC1D32	Unknown	—	Disgenet	—
		TCTN3	Unknown	—	Disgenet	Anchoring of the basal body to the plasma membrane
		TMEM107	Unknown	—	Disgenet	—
		TMEM138	Unknown	—	Disgenet	—
		TMEM216	Unknown	—	Disgenet	Anchoring of the basal body to the plasma membrane
		TMEM218	Unknown	—	Disgenet	—
		TMEM231	Unknown	—	Disgenet	—
		TMEM67	Unknown	—	Disgenet	Anchoring of the basal body to the plasma membrane
CILIOPATHY	MONDO:0005308	ADAMTS9	Unknown	20096780 30609407 33290818 34750010	CTD, ClinGen	Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
		ARL2BP	Unknown	23849777 27790702 29718757 31425546 36507858 38649918	ClinGen, Disgenet	Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane
		B9D1	Unknown	20150540 21493627 21763481 22179047 24886560 26092869 27894351 32622957 34338422	ClinGen, GWAS catalog	Anchoring of the basal body to the plasma membrane
		B9D2	Unknown	17127412 18287022 19208769 21422230 21763481 26092869 31411728	CTD, ClinGen	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion +4 more
		CBY1	Unknown	—	GenCC	Wnt signaling pathway Deactivation of the beta-catenin transactivating complex
		CCP110	Unknown	—	GenCC	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more
		CEP104	Unknown	23970417 26477546 31412255 34196201 35359234 7488117 9628581	CTD, ClinGen	—
		CEP120	Unknown	27208211 25361962	GWAS catalog, ClinGen	—
		CFAP418	Unknown	22177090 25802487 26854863 26865426 27008867 29440555 36233334	ClinGen, Disgenet	—
		DCDC2	Unknown	—	ClinGen, GenCC	—
		DLG5	Unknown	32631816	Disgenet	Hippo signaling pathway
		DNAJB11	Unknown	33129895 34177435	ClinGen, Disgenet	Protein processing in endoplasmic reticulum XBP1(S) activates chaperone genes
		IFT172	Unknown	21552265 24140113 25492405 33393400 34567078 37471416	CTD, ClinGen	Hedgehog 'off' state Intraflagellar transport
		IFT27	Unknown	24488770 25443296 25446516 28964737 29588463 29704304 30761183 34888642 37239474	ClinGen, Disgenet	Intraflagellar transport
		IFT43	Unknown	—	GenCC, ClinGen	Intraflagellar transport
		IFT81	Unknown	26275418	Orphanet	Intraflagellar transport
		IQCB1	Unknown	15723066 18076122 25552655 25984213 27328943 28736169 36084637	ClinGen, HPO	Anchoring of the basal body to the plasma membrane
		KATNIP	Unknown	26714646 27245168 30982090 31197031 32164589 36580738	CTD, ClinGen	—
		KIF11	Unknown	—	GenCC	Motor proteins MHC class II antigen presentation COPI-dependent Golgi-to-ER retrograde traffic +1 more
		KIF3B	Unknown	32386558	GWAS catalog	Motor proteins MHC class II antigen presentation Intraflagellar transport +2 more
		LRRC45	Unknown	34716235 39638757	GenCC	—
		MKS1	Unknown	17185389 17397051 18327255 19776033 23454480 24608809 24886560 26490104 33193692 34359301	ClinGen, Disgenet	Hedgehog 'off' state Anchoring of the basal body to the plasma membrane
		PIBF1	Unknown	23110211 26167768 29695797 30858804 34241634 34592808	ClinGen, GWAS catalog	—
		POC1B	Unknown	—	GenCC	—
		SUFU	Unknown	10559945 10564661 16459298 21289193 25760946 28965847	ClinGen, Orphanet	Hedgehog signaling pathway Pathways in cancer Basal cell carcinoma +4 more
		TMEM107	Unknown	26123494 26518474 26595381	GWAS catalog	—
		TMEM138	Unknown	22282472 23351400 26489029 27081510 27434533 27894351 28102635 28289185 29620724 34354814 34821546 35394880	ClinGen, Orphanet	—
		TMEM216	Unknown	20036350 20512146 22282472 23351400 32163404 32687549 36533556 36788019	ClinGen, GWAS catalog	Anchoring of the basal body to the plasma membrane
		TMEM218	Unknown	35137054 33791682	GenCC	—
		TMEM67	Unknown	16415887 17160906 18327255 19058225 19211713 19515853 21725307 22121117	ClinGen, ClinVar	Anchoring of the basal body to the plasma membrane

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Ciliopathy

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