Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
BARDET-BIEDL SYNDROME	C0752166 110 MONDO:0015229PS209900MESH:D020788	ALMS1	Causal	—	Disgenet
		ARL6	Causal	20301537	ClinVar Disgenet Orphanet
		BBS1	Causal	20301537	ClinVar Disgenet GWAS catalog Orphanet
		BBS10	Causal	20301537 23219996 23403234	Disgenet GWAS catalog Orphanet
		BBS12	Causal	20301537	CTD Disgenet Orphanet
		BBS2	Causal	20301537	Disgenet GWAS catalog Orphanet
		BBS4	Causal	20301537	ClinVar Disgenet GWAS catalog Orphanet
		BBS5	Causal	20301537	Disgenet GWAS catalog Orphanet
		BBS7	Causal	20301537	Disgenet Orphanet
		BBS9	Causal	20301537	Disgenet Orphanet
		CEP19	Causal	29127258	Disgenet GWAS catalog Orphanet
		CEP290	Causal	18327255 20301537	CTD Disgenet Orphanet
		COMT	Causal	—	Disgenet
		IFT172	Causal	25168386	CTD Disgenet Orphanet
		IFT27	Causal	24488770	Disgenet GWAS catalog Orphanet
		IFT74	Causal	27486776	Disgenet Orphanet
		LZTFL1	Causal	20301537 22510444	Disgenet GWAS catalog Orphanet
		MKKS	Causal	20301537	ClinVar Disgenet GWAS catalog Orphanet
		RPGRIP1L	Causal	—	Disgenet
		SDCCAG8	Causal	20301537 20835237	ClinVar Disgenet GWAS catalog Orphanet
		TMEM67	Causal	18327255	CTD Disgenet
		TRAPPC3	Causal	—	Disgenet
		TRIM32	Causal	20301537	Disgenet GWAS catalog Orphanet
		TSPOAP1	Causal	—	Disgenet
		TTC8	Causal	20301537	Disgenet GWAS catalog Orphanet
		WDPCP	Causal	20301537	Disgenet GWAS catalog Orphanet
		AKT3	Unknown	—	Disgenet
		ARL6IP6	Unknown	—	Disgenet
		ASTN2	Unknown	—	Disgenet
		BBIP1	Unknown	20301537 24026985	Disgenet GWAS catalog Orphanet
		CCDC28B	Unknown	—	Disgenet
		CFAP418	Unknown	27008867	Disgenet Orphanet
		GLI1	Unknown	—	Disgenet
		GLI2	Unknown	—	Disgenet
		HTR2B	Unknown	—	Disgenet
		IFT57	Unknown	—	Disgenet
		IQCB1	Unknown	—	Disgenet
		LOC128706665	Unknown	—	Disgenet
		LOC128706666	Unknown	—	Disgenet
		MKS1	Unknown	18327255 20301537	CTD Disgenet Orphanet
		NPHP1	Unknown	24746959	Disgenet GWAS catalog Orphanet
		NPHP3	Unknown	—	Disgenet
		NPHP4	Unknown	—	Disgenet
		OSBPL8	Unknown	—	Disgenet
		PHLDB1	Unknown	—	Disgenet
		PSMD1	Unknown	—	Disgenet
		RLIG1	Unknown	—	Disgenet
		RPGRIP1	Unknown	—	Disgenet
		SCAPER	Unknown	30723319	Disgenet Orphanet
		SCLT1	Unknown	32253632	CTD Disgenet Orphanet

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Bardet-biedl syndrome