Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
BARDET-BIEDL SYNDROME	C0752166 110 MONDO:0015229PS209900MESH:D020788	ALMS1	Causal	22773737	Disgenet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +4 more
		ARL6	Causal	20301537	ClinVar, Disgenet, Orphanet	BBSome-mediated cargo-targeting to cilium
		BBS1	Causal	20301537	ClinVar, Disgenet, GWAS catalog, Orphanet	BBSome-mediated cargo-targeting to cilium
		BBS10	Causal	20301537 23219996 23403234	Disgenet, GWAS catalog, Orphanet	BBSome-mediated cargo-targeting to cilium
		BBS12	Causal	20301537	CTD, Disgenet, Orphanet	BBSome-mediated cargo-targeting to cilium
		BBS2	Causal	20301537	Disgenet, GWAS catalog, Orphanet	BBSome-mediated cargo-targeting to cilium
		BBS4	Causal	20301537	ClinVar, Disgenet, GWAS catalog, Orphanet	BBSome-mediated cargo-targeting to cilium
		BBS5	Causal	20301537	Disgenet, GWAS catalog, Orphanet	BBSome-mediated cargo-targeting to cilium
		BBS7	Causal	20301537	Disgenet, Orphanet	BBSome-mediated cargo-targeting to cilium
		BBS9	Causal	20301537	Disgenet, Orphanet	BBSome-mediated cargo-targeting to cilium
		CEP19	Causal	29127258	Disgenet, GWAS catalog, Orphanet	—
		CEP290	Causal	18327255 20301537	CTD, Disgenet, Orphanet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more
		COMT	Causal	—	Disgenet	Steroid hormone biosynthesis Tyrosine metabolism Metabolic pathways +4 more
		IFT172	Causal	25168386	CTD, Disgenet, Orphanet	Hedgehog 'off' state Intraflagellar transport
		IFT27	Causal	24488770	Disgenet, GWAS catalog, Orphanet	Intraflagellar transport
		IFT74	Causal	27486776	Disgenet, Orphanet	Intraflagellar transport
		LZTFL1	Causal	20301537 22510444	Disgenet, GWAS catalog, Orphanet	BBSome-mediated cargo-targeting to cilium
		MKKS	Causal	20301537	ClinVar, Disgenet, GWAS catalog, Orphanet	BBSome-mediated cargo-targeting to cilium
		RPGRIP1L	Causal	—	Disgenet	Hedgehog 'off' state Anchoring of the basal body to the plasma membrane
		SDCCAG8	Causal	20301537 20835237	ClinVar, Disgenet, GWAS catalog, Orphanet	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +4 more
		TMEM67	Causal	18327255	CTD, Disgenet	Anchoring of the basal body to the plasma membrane
		TRAPPC3	Causal	—	Disgenet	COPII-mediated vesicle transport RAB GEFs exchange GTP for GDP on RABs
		TRIM32	Causal	20301537	Disgenet, GWAS catalog, Orphanet	Ubiquitin mediated proteolysis Regulation of innate immune responses to cytosolic DNA Antigen processing: Ubiquitination & Proteasome degradation
		TSPOAP1	Causal	—	Disgenet	Serotonin Neurotransmitter Release Cycle Norepinephrine Neurotransmitter Release Cycle Pregnenolone biosynthesis +3 more
		TTC8	Causal	20301537	Disgenet, GWAS catalog, Orphanet	BBSome-mediated cargo-targeting to cilium
		WDPCP	Causal	20301537	Disgenet, GWAS catalog, Orphanet	—
		AKT3	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +119 more
		ARL6IP6	Unknown	—	Disgenet	—
		ASTN2	Unknown	—	Disgenet	—
		BBIP1	Unknown	20301537 24026985	Disgenet, GWAS catalog, Orphanet	BBSome-mediated cargo-targeting to cilium
		CCDC28B	Unknown	—	Disgenet	—
		CFAP418	Unknown	27008867	Disgenet, Orphanet	—
		GLI1	Unknown	—	Disgenet	cAMP signaling pathway Hedgehog signaling pathway Pathways in cancer +5 more
		GLI2	Unknown	—	Disgenet	Hedgehog signaling pathway Hippo signaling pathway Pathways in cancer +4 more
		HTR2B	Unknown	—	Disgenet	Calcium signaling pathway Neuroactive ligand-receptor interaction Gap junction +4 more
		IFT57	Unknown	40273360 27060890	Disgenet	Huntington disease Pathways of neurodegeneration - multiple diseases Hedgehog 'off' state +1 more
		IQCB1	Unknown	—	Disgenet	Anchoring of the basal body to the plasma membrane
		LOC128706665	Unknown	—	Disgenet	—
		LOC128706666	Unknown	—	Disgenet	—
		MKS1	Unknown	18327255 20301537	CTD, Disgenet, Orphanet	Hedgehog 'off' state Anchoring of the basal body to the plasma membrane
		NPHP1	Unknown	24746959	Disgenet, GWAS catalog, Orphanet	Anchoring of the basal body to the plasma membrane
		NPHP3	Unknown	—	Disgenet	Trafficking of myristoylated proteins to the cilium
		NPHP4	Unknown	—	Disgenet	Signaling by Hippo Anchoring of the basal body to the plasma membrane
		OSBPL8	Unknown	—	Disgenet	Acyl chain remodelling of PS
		PHLDB1	Unknown	—	Disgenet	—
		PSMD1	Unknown	—	Disgenet	Proteasome Alzheimer disease Parkinson disease +58 more
		RLIG1	Unknown	—	Disgenet	—
		RPGRIP1	Unknown	—	Disgenet	—
		SCAPER	Unknown	30723319	Disgenet, Orphanet	—
		SCLT1	Unknown	32253632	CTD, Disgenet, Orphanet	Anchoring of the basal body to the plasma membrane
BARDET-BIEDL SYNDROME 1	C2936862 MESH:C537909 MONDO:0008854 209900	ARL6	Causal	—	CTD, ClinVar, Disgenet	BBSome-mediated cargo-targeting to cilium
		BBS1	Causal	10577921 10577922 12118255 12524598 12837689 20177705 23143442	CTD, ClinVar, Disgenet, GenCC, HPO	BBSome-mediated cargo-targeting to cilium
		BBS10	Causal	—	Disgenet	BBSome-mediated cargo-targeting to cilium
		BBS12	Causal	—	Disgenet	BBSome-mediated cargo-targeting to cilium
		BBS2	Causal	—	Disgenet	BBSome-mediated cargo-targeting to cilium
		BBS4	Causal	—	Disgenet	BBSome-mediated cargo-targeting to cilium
		BBS7	Causal	—	Disgenet	BBSome-mediated cargo-targeting to cilium
		BBS9	Causal	—	Disgenet	BBSome-mediated cargo-targeting to cilium
		BBS5	Unknown	—	Disgenet	BBSome-mediated cargo-targeting to cilium
		CCDC28B	Unknown	16327777 21552264	CTD, ClinVar, Disgenet	—
		IFT172	Unknown	—	Disgenet	Hedgehog 'off' state Intraflagellar transport
		NPHP1	Unknown	—	Disgenet	Anchoring of the basal body to the plasma membrane
		SCAPER	Unknown	—	Disgenet	—
BARDET-BIEDL SYNDROME 10	615987 C1859568 MESH:C565919 MONDO:0014438	BBS10	Causal	16582908 20805367 26762677	CTD, ClinVar, Disgenet, GenCC, HPO	BBSome-mediated cargo-targeting to cilium
BARDET-BIEDL SYNDROME 10	615987 C1859568 MESH:C565919 MONDO:0014438	OSBPL8	Unknown	—	Disgenet	Acyl chain remodelling of PS
BARDET-BIEDL SYNDROME 11	615988 C1859569 MESH:C565920 MONDO:0014439	TRIM32	Causal	16606853 20498079 24400638 25351777 281728	CTD, ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	Ubiquitin mediated proteolysis Regulation of innate immune responses to cytosolic DNA Antigen processing: Ubiquitination & Proteasome degradation
BARDET-BIEDL SYNDROME 11	615988 C1859569 MESH:C565920 MONDO:0014439	ASTN2	Unknown	—	Disgenet	—
BARDET-BIEDL SYNDROME 12	615989 C1859570 MESH:C565921 MONDO:0014440	BBS12	Causal	17160889 19797195 20827784 26082521	CTD, ClinVar, Disgenet, GenCC, HPO	BBSome-mediated cargo-targeting to cilium
BARDET-BIEDL SYNDROME 13	615990 C2673873 MESH:C567140 MONDO:0014441	MKS1	Causal	17377820 16415886	CTD, ClinVar, Disgenet, HPO	Hedgehog 'off' state Anchoring of the basal body to the plasma membrane
BARDET-BIEDL SYNDROME 14	615991 C2673874 MESH:C567141 MONDO:0014442	CEP290	Causal	16909394 17345604 18327255 20690115 23943788 27486776	CTD, ClinVar, Disgenet, HPO	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more
		TMEM67	Causal	—	CTD, ClinVar, Disgenet	Anchoring of the basal body to the plasma membrane
		RLIG1	Unknown	—	Disgenet	—
BARDET-BIEDL SYNDROME 15	615992 C3150127 MONDO:0014443 OMIM:615992	WDPCP	Causal	20671153 32055034 37239474	CTD, ClinVar, Disgenet, GenCC, HPO	—
BARDET-BIEDL SYNDROME 16	615993 C3889474 MONDO:0014444 OMIM:615993	SDCCAG8	Causal	20835237 22190896 22825473 24722439 27224062 31534065 35131266 35503560 35886001	CTD, ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +4 more
BARDET-BIEDL SYNDROME 16	615993 C3889474 MONDO:0014444 OMIM:615993	AKT3	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +119 more
BARDET-BIEDL SYNDROME 17	615994 C3714980 MONDO:0014445 OMIM:615994	LZTFL1	Causal	17163542 22510444 23692385 27312011	CTD, ClinVar, Disgenet, GWAS catalog, HPO	BBSome-mediated cargo-targeting to cilium
BARDET-BIEDL SYNDROME 18	615995 C3806174 MONDO:0014446 OMIM:615995	BBIP1	Causal	24026985	CTD, ClinVar, Disgenet, HPO	BBSome-mediated cargo-targeting to cilium
BARDET-BIEDL SYNDROME 19	615996 C3889475 MONDO:0014447 OMIM:615996	IFT27	Causal	24488770 25446516 26023097 29588463 29704304 30761183	CTD, ClinVar, Disgenet, HPO	Intraflagellar transport
BARDET-BIEDL SYNDROME 2	615981 C2936863 MESH:C537910 MONDO:0014432	BBS2	Causal	11285252 11567139 16823392 20618352	CTD, ClinVar, Disgenet, GenCC, HPO	BBSome-mediated cargo-targeting to cilium
BARDET-BIEDL SYNDROME 20	619471 C4310707 MONDO:0014926 MONDO:0023670	IFT172	Causal	25168386 26763875	CTD, ClinVar, Disgenet, HPO	Hedgehog 'off' state Intraflagellar transport
BARDET-BIEDL SYNDROME 21	617406 C4319932 MONDO:0044308 OMIM:617406	CFAP418	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	—
BARDET-BIEDL SYNDROME 22	617119 C5561936 MONDO:0014926 OMIM:617119	IFT74	Causal	33531668 27486776 32144365 33748949	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Intraflagellar transport
BARDET-BIEDL SYNDROME 22	617119 C5561936 MONDO:0014926 OMIM:617119	IFT172	Unknown	—	Disgenet	Hedgehog 'off' state Intraflagellar transport
BARDET-BIEDL SYNDROME 3	600151 C1859564 MESH:C537911 MONDO:0010832	ARL6	Causal	16606853 10973238 15314642 9714014 11567139 8298649 12118255 18203199 20618352 18327255 15137946 20805367 17160889 12524598 16582908 11381270 20671153 12016587 14520415 7987310 12567324 7711739 16308660 21937992 12837689 10973251	CTD, ClinVar, Disgenet, HPO	BBSome-mediated cargo-targeting to cilium
BARDET-BIEDL SYNDROME 4	615982 C2936864 MESH:C537912 MONDO:0014433	BBS4	Causal	11381270 12016587	CTD, ClinVar, Disgenet, GWAS catalog, HPO	BBSome-mediated cargo-targeting to cilium
BARDET-BIEDL SYNDROME 5	615983 C3892039 MONDO:0014434 OMIM:615983	BBS5	Causal	15137946 18203199	CTD, ClinVar, Disgenet, GWAS catalog, HPO	BBSome-mediated cargo-targeting to cilium
BARDET-BIEDL SYNDROME 6	605231 C1858054 MESH:C565738 MONDO:0011523	MKKS	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	BBSome-mediated cargo-targeting to cilium
		LOC128706665	Unknown	—	Disgenet	—
		LOC128706666	Unknown	—	Disgenet	—
BARDET-BIEDL SYNDROME 7	615984 C1859565 MESH:C565916 MONDO:0014435	BBS7	Causal	12567324	CTD, ClinVar, Disgenet, HPO	BBSome-mediated cargo-targeting to cilium
BARDET-BIEDL SYNDROME 8	615985 C1859566 MESH:C565917 MONDO:0014436	TTC8	Causal	14520415 19797195 30886724	CTD, ClinVar, Disgenet, GenCC, HPO	BBSome-mediated cargo-targeting to cilium
BARDET-BIEDL SYNDROME 9	615986 C1859567 MESH:C565918 MONDO:0014437	BBS9	Causal	16380913 22353939	CTD, ClinVar, Disgenet, HPO	BBSome-mediated cargo-targeting to cilium

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Bardet-biedl syndrome

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