Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
BARDET-BIEDL SYNDROME	C0752166	USH2A	Unknown	—	Disgenet
		WDR19	Unknown	—	Disgenet
		ZDHHC24	Unknown	—	Disgenet
BARDET-BIEDL SYNDROME 1	C2936862 MESH:C537909 MONDO:0008854 209900	ARL6	Causal	—	CTD ClinVar Disgenet
		BBS1	Causal	—	CTD ClinVar Disgenet GenCC HPO
		BBS10	Causal	—	Disgenet
		BBS12	Causal	—	Disgenet
		BBS2	Causal	—	Disgenet
		BBS4	Causal	—	Disgenet
		BBS7	Causal	—	Disgenet
		BBS9	Causal	—	Disgenet
		BBS5	Unknown	—	Disgenet
		CCDC28B	Unknown	—	CTD ClinVar Disgenet
		IFT172	Unknown	—	Disgenet
		KIF7	Unknown	—	Disgenet
		NPHP1	Unknown	—	Disgenet
		SCAPER	Unknown	—	Disgenet
		ZDHHC24	Unknown	—	Disgenet
BARDET-BIEDL SYNDROME 10	615987 C1859568 MESH:C565919 MONDO:0014438	BBS10	Causal	—	CTD ClinVar Disgenet GenCC HPO
BARDET-BIEDL SYNDROME 10	615987 C1859568 MESH:C565919 MONDO:0014438	OSBPL8	Unknown	—	Disgenet
BARDET-BIEDL SYNDROME 11	615988 C1859569 MESH:C565920 MONDO:0014439	TRIM32	Causal	16606853 20498079 24400638 25351777 281728	CTD ClinGen ClinVar Disgenet GWAS catalog HPO
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	—	CTD ClinVar Disgenet GenCC HPO
BARDET-BIEDL SYNDROME 13	615990 C2673873 MESH:C567140 MONDO:0014441	MKS1	Causal	17377820 16415886	CTD ClinVar Disgenet HPO
BARDET-BIEDL SYNDROME 14	615991 C2673874 MESH:C567141 MONDO:0014442	CEP290	Causal	16909394 17345604 18327255 20690115 23943788 27486776	CTD ClinVar Disgenet HPO
		TMEM67	Causal	—	CTD ClinVar Disgenet
		RLIG1	Unknown	—	Disgenet
BARDET-BIEDL SYNDROME 15	615992 C3150127 MONDO:0014443 OMIM:615992	WDPCP	Causal	—	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
BARDET-BIEDL SYNDROME 16	615993 C3889474 MONDO:0014444 OMIM:615993	AKT3	Unknown	—	Disgenet
BARDET-BIEDL SYNDROME 17	615994 C3714980 MONDO:0014445 OMIM:615994	LZTFL1	Causal	17163542 22510444 23692385 27312011	CTD ClinVar Disgenet GWAS catalog HPO
BARDET-BIEDL SYNDROME 17	615994 C3714980 MONDO:0014445 OMIM:615994	CCR9	Unknown	—	Disgenet
BARDET-BIEDL SYNDROME 18	615995 C3806174 MONDO:0014446 OMIM:615995	BBIP1	Causal	24026985	CTD ClinVar Disgenet HPO
BARDET-BIEDL SYNDROME 19	615996 C3889475 MONDO:0014447 OMIM:615996	IFT27	Causal	24488770 25446516 26023097 29588463 29704304 30761183	CTD ClinVar Disgenet HPO
BARDET-BIEDL SYNDROME 2	615981 C2936863 MESH:C537910 MONDO:0014432	BBS2	Causal	—	CTD ClinVar Disgenet GenCC HPO
		TTC21B	Causal	—	Disgenet
		OGFOD1	Unknown	—	Disgenet
BARDET-BIEDL SYNDROME 20	619471 C4310707 MONDO:0014926 MONDO:0023670	IFT172	Causal	25168386 26763875	CTD ClinVar Disgenet HPO
BARDET-BIEDL SYNDROME 20	619471 C4310707 MONDO:0014926 MONDO:0023670	KRTCAP3	Unknown	—	Disgenet
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
BARDET-BIEDL SYNDROME 22	617119 C5561936 MONDO:0014926 OMIM:617119	IFT172	Unknown	—	Disgenet
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
BARDET-BIEDL SYNDROME 4	615982 C2936864 MESH:C537912 MONDO:0014433	BBS4	Causal	11381270 12016587	CTD ClinVar Disgenet GWAS catalog HPO
BARDET-BIEDL SYNDROME 5	615983 C3892039 MONDO:0014434 OMIM:615983	BBS5	Causal	15137946 18203199	CTD ClinVar Disgenet GWAS catalog HPO
BARDET-BIEDL SYNDROME 6	605231 C1858054 MESH:C565738 MONDO:0011523	MKKS	Causal	—	CTD ClinVar Disgenet GenCC HPO
		LOC128706665	Unknown	—	Disgenet
		LOC128706666	Unknown	—	Disgenet
BARDET-BIEDL SYNDROME 7	615984 C1859565 MESH:C565916 MONDO:0014435	BBS7	Causal	12567324	CTD ClinVar Disgenet HPO
BARDET-BIEDL SYNDROME 8	615985 C1859566 MESH:C565917 MONDO:0014436	TTC8	Causal	—	CTD ClinVar Disgenet GenCC HPO

«‹12›»

Bardet-biedl syndrome