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