Waardenburg syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Waardenburg Syndrome C3266898 EDN3 Causal Pathogenic evidence from ClinVar 8630502, 19764030 ClinVar
EDNRB Causal Pathogenic evidence from ClinVar 10528251 ClinVar
MITF Causal Pathogenic evidence from ClinVar 7874167, 8589691, 20478267, 20485200, 22258527, 23787126, 24194866, 26781036, 27073475, 27889061, 29094203, 29115496, 29531335, 30612693 ClinVar
PAX3 Causal Pathogenic evidence from ClinVar 1349198, 7897628, 8447316, 8533800, 8589691, 9017978, 9654197, 15729346, 18553554, 18983540, 20095975, 25932447, 26512583, 27759048, 28043919, 28381738, 28690861, 30314436 ClinVar
SOX10 Causal Pathogenic evidence from ClinVar 10762540, 22378281, 24311220, 28390600 ClinVar
SNAI2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12444107 -
WAARDENBURG SYNDROME, TYPE 4A C1848519 EDN3 Causal Pathogenic evidence from ClinVar 8630502, 8630503, 17516928, 19764030 ClinVar
EDNRB Causal Pathogenic evidence from ClinVar 8634719, 9760196, 10528251, 11773966, 12189494, 16237557, 21373256, 21715336, 25852447, 28236341, 28502583 ClinVar
MITF Causal Pathogenic evidence from ClinVar 30612693 ClinVar
SOX10 Causal Pathogenic evidence from ClinVar 22378281, 24311220 ClinVar
POLR2F Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Waardenburg Syndrome, Type 4b C2750457 EDN3 Causal Pathogenic evidence from ClinVar 8001160, 8630502, 8630503, 9359047, 10231870, 11303518, 12189494, 17516928, 19764030, 20127975, 22876130, 27018795, 28263850 ClinVar
Waardenburg-Shah syndrome 897 EDN3 Causal Pathogenic evidence from ClinVar - ClinVar
EDNRB Causal Pathogenic evidence from ClinVar - ClinVar
MITF Causal Pathogenic evidence from ClinVar - ClinVar
SOX10 Causal Pathogenic evidence from ClinVar - ClinVar
Waardenburg syndrome type 2 895 EDNRB Causal Pathogenic evidence from ClinVar - ClinVar
MITF Causal Pathogenic evidence from ClinVar - ClinVar
SOX10 Causal Pathogenic evidence from ClinVar - ClinVar
KITLG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SNAI2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Waardenburg Syndrome Type 2 C2700265 EDNRB Causal Pathogenic evidence from ClinVar 28236341 ClinVar
MITF Causal Pathogenic evidence from ClinVar 7874167, 7874168, 8782819, 9158138, 9499424, 23098757, 23512835, 23787126, 27349893, 27759048, 28356565 ClinVar
SOX10 Causal Pathogenic evidence from ClinVar 17999358, 21898658 ClinVar
KITLG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26522471 -
SNAI2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12444107 -
Waardenburg Syndrome Type 1 C1847800 MITF Causal Pathogenic evidence from ClinVar - ClinVar
PAX3 Causal Pathogenic evidence from ClinVar 1303193, 1347148, 1347149, 6859126, 7825605, 7833953, 7897628, 7981674, 8447316, 8490648, 8533800, 8589691, 8845842, 9067759, 9452070, 9500554, 9541113, 10779847, 12949970, 15729346, 16971891, 18553554, 18983540, 20095975, 20478267, 21965087, 25932447, 27759048, 28043919, 28381738, 28690861, 29407415, 30173992, 30314436 ClinVar
SNAI2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12444107 -
WAARDENBURG SYNDROME, TYPE IIA C1860339 MITF Causal Pathogenic evidence from ClinVar 7874167, 8589691, 22012259, 22080950, 23167872, 23787126, 27473757, 27889061, 28236341, 29407415 ClinVar
SOX10 Causal Pathogenic evidence from ClinVar 29407415 ClinVar
POLR2F Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29407415 -
WAARDENBURG SYNDROME, TYPE IIE C2700405 MITF Causal Pathogenic evidence from ClinVar 9158138 ClinVar
SOX10 Causal Pathogenic evidence from ClinVar 9760192, 10441344, 10762540, 17999358, 21898658 ClinVar
POLR2F Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Waardenburg syndrome type 1 894 PAX3 Causal Pathogenic evidence from ClinVar - ClinVar
Waardenburg syndrome type 3 896 PAX3 Causal Pathogenic evidence from ClinVar - ClinVar
Waardenburg Syndrome, Type 4c C2750452 SOX10 Causal Pathogenic evidence from ClinVar 2364338, 9425902, 9462749, 9760192, 10973953, 10982026, 12668617, 17999358, 18348274, 21898658, 23643381, 24311220, 24735604, 24887110, 27240497, 28390600 ClinVar
POLR2F Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
WAARDENBURG SYNDROME, TYPE IID C1837203 SNAI2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9721220 -