Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
CATARACT 19, MULTIPLE TYPE S	615277 C3809004 OMIM:615277	LIM2	Unknown	—	CTD Disgenet HPO
CATARACT 2, MULTIPLE TYPE S	604307 C4721890 MONDO:0100436	CRYGC	Unknown	10521291 10914683 12011157 18618005 19204787 28298635	ClinVar Disgenet GWAS catalog HPO
CATARACT 20 MULTIPLE TYPE S	MONDO:0007284	CRYGS	Unknown	16141006 18587492 21866213 19262743 24328668	ClinVar GWAS catalog
CATARACT 20, MULTIPLE TYPE S	116100 C3805410 OMIM:116100	CRYGS	Unknown	—	CTD Disgenet HPO
CATARACT 21 MULTIPLE TYPE S	MONDO:0012437	MAF	Unknown	11772997 16470690 30659945 29314435 24664492	CTD ClinVar
CATARACT 21, MULTIPLE TYPE S	610202	MAF	Unknown	—	HPO
CATARACT 22 MULTIPLE TYPE S	MONDO:0012336	CRYBB3	Unknown	15914629 19182255 23508780 27326458	ClinVar GWAS catalog
CATARACT 22, MULTIPLE TYPE S	609741	CRYBB3	Unknown	—	HPO
CATARACT 23	C3808012 MONDO:0012489	CRYBA4	Causal	16960806 20577656 15452067	ClinVar Disgenet GWAS catalog
CATARACT 23, MULTIPLE TYPE S	610425 OMIM:610425	CRYBA4	Unknown	—	CTD HPO
CATARACT 3 MULTIPLE TYPE S	MONDO:0011104	CRYBB2	Unknown	8812489 11424921 16179907 10634616 9158139 27385965 24312286 21245961 18449377	ClinVar GWAS catalog
CATARACT 3, MULTIPLE TYPE S	601547 OMIM:601547	CRYBB2	Unknown	—	CTD HPO
CATARACT 30	C3805411 MONDO:0007286	VIM	Causal	19126778 26694549 27334676 28450710	ClinVar Disgenet HPO
CATARACT 30, MULTIPLE TYPE S	116300	VIM	Unknown	—	HPO
CATARACT 31 MULTIPLE TYPE S	MONDO:0011547	CHMP4B	Unknown	17701905 17701915	ClinVar GWAS catalog
CATARACT 31, MULTIPLE TYPE S	605387	CHMP4B	Unknown	—	HPO
CATARACT 33	MONDO:0012665	BFSP1	Causal	17225135 24379646 26694549 28450710	ClinVar GWAS catalog
CATARACT 33, CORTICAL	C3808107	BFSP1	Unknown	—	Disgenet
CATARACT 33, MULTIPLE TYPE S	611391	BFSP1	Unknown	—	HPO
CATARACT 34 MULTIPLE TYPE S	MONDO:0013067	FOXE3	Unknown	—	ClinVar
CATARACT 34, MULTIPLE TYPE S	612968	FOXE3	Unknown	—	HPO
CATARACT 36	613887 C3151304 MONDO:0013484 OMIM:613887	TDRD7	Causal	21436445 28418495 31048812	CTD ClinVar Disgenet GWAS catalog HPO
CATARACT 38	614691 C3553494 MONDO:0013859 OMIM:614691	AGK	Causal	22415731 31980526	CTD ClinVar Disgenet HPO
CATARACT 39 MULTIPLE TYPE S	MONDO:0014075	CRYGB	Unknown	21941057 23288985	ClinVar GWAS catalog
CATARACT 39, MULTIPLE TYPE S	615188 C3808800 OMIM:615188	CRYGB	Unknown	—	CTD Disgenet HPO
CATARACT 4 MULTIPLE TYPE S	MONDO:0007281	CRYGD	Unknown	10915766 10521291 12011157 17564961 9927684 12676897 18079686 20508808	ClinVar GWAS catalog
CATARACT 4, MULTIPLE TYPE S	115700 C3540850 OMIM:115700	CRYGD	Unknown	—	CTD Disgenet HPO
CATARACT 40	302200 C4049004 MONDO:0010544	NHS	Causal	—	ClinVar Disgenet HPO
CATARACT 41	116400 C3805412 MONDO:0007287 OMIM:116400	WFS1	Causal	23531866 31555371 34014271	CTD ClinVar Disgenet HPO
CATARACT 42	115900 C4011454 MONDO:0007283 OMIM:115900	CRYBA2	Unknown	23508780 28450710	CTD ClinVar Disgenet GWAS catalog HPO
CATARACT 43	616279 C4225389 MONDO:0014565 OMIM:616279	UNC45B	Causal	24549050	CTD ClinVar Disgenet HPO
CATARACT 44	616509 C4225300 MONDO:0014673 OMIM:616509	LSS	Causal	—	CTD ClinVar Disgenet GenCC HPO
CATARACT 45	616851 C4225182 MONDO:0014799 OMIM:616851	SIPA1L3	Causal	25804400 27993984 28951961	CTD ClinVar Disgenet HPO
CATARACT 46 JUVENILE-ONSET	MONDO:0008925	LEMD2	Causal	26788539	ClinVar GWAS catalog
CATARACT 46, JUVENILE-ONSET, WITH OR WITHOUT ARRHYTHMIC CARDIOMYOPATHY	212500 C0220721 OMIM:212500	LEMD2	Unknown	—	CTD Disgenet HPO
CATARACT 47	612018 C4310806	SLC16A12	Unknown	—	Disgenet HPO
CATARACT 48	618415 C5193082 MONDO:0032735	DNMBP	Causal	30290152	CTD ClinVar Disgenet HPO
CATARACT 49	619593 C5562010 MONDO:0030465	PANK4	Causal	30585370	ClinVar Disgenet HPO
CATARACT 5 MULTIPLE TYPE S	MONDO:0007290	HSF4	Unknown	12089525 30143024 24045990 26490182 19014451 29243736 24637349 16876512	ClinVar GWAS catalog
CATARACT 5, MULTIPLE TYPE S	116800 C3888417	HSF4	Unknown	—	Disgenet HPO
CATARACT 50 WITH OR WITHOUT GLAUCOMA	620253 C5830299 MONDO:0859382	TRPM3	Unknown	25090642 27518543 29914532	ClinGen ClinVar Disgenet GWAS catalog HPO
CATARACT 6 MULTIPLE TYPE S	MONDO:0007288	EPHA2	Unknown	19005574 19306328 20361013 28418495 31555371 30450742	ClinVar GWAS catalog
CATARACT 6, MULTIPLE TYPE S	116600 OMIM:116600	EPHA2	Unknown	—	CTD HPO
CATARACT 9 MULTIPLE TYPE S	MONDO:0011413	CRYAA	Unknown	9467006 18302245 11006246 17296897	ClinVar GWAS catalog
CATARACT 9, MULTIPLE TYPE S	604219	CRYAA	Unknown	—	HPO
TOTAL EARLY-ONSET CATARACT	98994 MONDO:0021548	AGK	Unknown	22415731 26622071	GWAS catalog Orphanet
		CRYAA	Unknown	16862070	GWAS catalog Orphanet
		CRYBB2	Unknown	21031021	GWAS catalog Orphanet
		CRYGB	Unknown	23288985	GWAS catalog Orphanet
		DNMBP	Unknown	30290152	CTD Orphanet

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