Disease Term Disease ID Gene Symbol References
Usher Syndrome C0271097 BBS1 30718709
GUCA1A 30718709
HARS1
TRNS2
MYO7A 27460420, 25472526, 10094549, 25404053, 9718356, 18181211, 15965244, 28944237, 24831256, 17361009, 10930322, 28439001
USH2A 26766544, 26310143, 12427073, 10775529, 12525556, 20591486, 26969326, 29196752, 17085681, 21151602, 17405132, 18665195, 22135276, 24853665, 25356976, 25558175, 25575603, 18273898, 25910913, 25521520, 10909849, 11402400, 18641288, 12112664, 15325563, 14970843, 24944099, 25649381, 23924366, 21738395, 16098008, 24160897, 25133613, 20052763, 27624628, 18463160, 27460420, 30718709, 28981474, 25333064, 27318125, 9624053, 29490346, 26338283, 23591405, 16963483, 10729113, 15025721, 20440071, 23737954, 30245029, 20507924, 25425308, 15015129, 19737284, 19881469, 19023448, 28944237, 22009552, 15241801, 19683999, 25472526
PROM1
USH1C 10973248
CEP250
ARSG
CDH23
PCDH15 19309154
ADGRV1 24154662, 14740321
PLD4 28041643
ZDHHC24 30718709
CDH23-AS1
Usher Syndrome, Type III C1568248 HARS1 22279524
TRNS2
MYO7A 15965244
CLRN1 22135276, 17407589, 14569126, 11524702, 16963483, 19753315, 18281613, 12080385, 12145752, 19539019, 22952768, 19423712, 23304067, 21675857, 26180195, 15521980, 24596593, 16028794, 24045267, 26943149, 22787034, 9719374, 22363448, 18273898, 27110679, 17893653
ARSG 29300381
PCDH15 19309154
CEP78 27627988
CLRN1-AS1 22952768, 18281613, 24596593, 23304067, 18273898, 12145752, 19753315, 22135276, 22787034, 17893653, 26180195, 16028794, 11524702, 19423712, 14569126, 17407589, 12080385, 16963483, 21675857
USHER SYNDROME, TYPE IIIB C3281066 HARS1 22279524, 7755634
Usher syndrome type 2 C0339534, 231178 MYO7A 24831256
USH2A 25211151, 19959642, 26401052, 17360538, 16301217, 22004887, 9624053, 20497194
PDZD7 20440071
ADGRV1
WHRN
Usher Syndrome, Type I C1568247 MYO7A 18181211, 23148716, 28660889, 25404053, 10094549, 27610647, 10447383, 22135276, 26872967, 9002678, 16679490, 23804846, 8900236, 15043528, 24194196, 25798947, 20052763, 23591405, 21873662, 24831256, 15660226, 24997346, 20497194, 23770805, 27440999, 24618850, 27460420, 15823922, 16470552, 12112664, 10930322, 19299023, 28400833, 22898263, 27013738, 21311020, 25211151, 21738395, 26309859, 23559863, 19074810, 20613545, 17361009, 9382091, 27068579, 26969326, 16400615, 7870171, 16963483, 25558175, 8622919, 24105371, 23451239, 27583663, 21569298, 25080338, 10364543, 21436283, 26338283, 7870172, 24164807, 10958658, 26445815, 27729122, 28281779, 26791358, 25788563, 18700726, 19683999, 9718356, 28472130, 27957503, 25468891, 9171832, 9843659, 25575603
USH1C 10973247, 15578223, 12630964, 21569298, 10973248, 11139240, 12107438, 11810303, 12702164, 21203349, 11239869
CIB2 23023331
CDH23 21689626, 20513143, 12407180, 21569298, 15537665, 12075507, 11750125, 11090341
PCDH15 15634702, 11138007, 16260500, 11487575, 12782354, 15537665, 15928608, 24618850, 11398101, 12711741
ESPN
ADGRV1 21569298
OTOP2 21569298
USH1G 24608321, 12588794, 11941484, 22381527, 21569298, 27583663, 17923142, 26936824, 25798947, 21436032
CDH23-AS1 15537665
Usher Syndrome, Type II C1568249 MYO7A 24831256, 15965244
USH2A 26401052
WHRN 27117407, 28254438, 22147658, 16434480, 12833159, 26338283, 17171570, 21738389, 20502675
PCDH15 19309154
PDZD7 20440071
USHER SYNDROME, TYPE IB (disorder) C1848638 MYO7A 25211151, 23559863, 8622919, 27013738, 7870172, 10958658, 28660889, 18181211, 28400833
USH1C 11239869, 10973248, 10973247, 21203349
CDH23 21689626, 12407180, 11090341, 12075507, 20513143, 11750125
PCDH15 12782354, 15634702, 15928608, 11398101, 11487575, 16260500, 11138007
USH1G 21436032, 25798947, 27583663, 24608321, 11941484, 12588794, 22381527, 26936824, 17923142
USHER SYNDROME, TYPE IA, FORMERLY C1848639 MYO7A 25211151, 28660889, 10958658, 27013738, 8622919, 23559863, 18181211, 28400833, 7870172
USH1C 10973248, 10973247, 21203349, 11239869
CDH23 12075507, 20513143, 11750125, 11090341, 21689626, 12407180
PCDH15 11138007, 12782354, 11398101, 16260500, 11487575, 15634702, 15928608
USH1G 12588794, 27583663, 11941484, 22381527, 26936824, 24608321, 21436032, 17923142, 25798947
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY C1848640 MYO7A 18181211, 28660889, 10958658, 7870172, 8622919, 27013738, 23559863, 28400833, 25211151
USH1C 10973247, 10973248, 21203349, 11239869
CDH23 11090341, 12407180, 12075507, 20513143, 21689626, 11750125
PCDH15 12782354, 11138007, 11398101, 11487575, 15634702, 15928608, 16260500
USH1G 22381527, 26936824, 21436032, 25798947, 12588794, 24608321, 17923142, 11941484, 27583663
Usher syndrome, type 1A C2931205 MYO7A 15965244
USH1C 21203349
CDH23 21689626
PCDH15 19309154
USH1G 21436032
Usher syndrome, type 1B C2931206 MYO7A
USH1C
USHER SYNDROME, TYPE IIA C1848634 USH2A 22563300, 25097241, 24498627, 27957503, 24944099, 20440071, 25333064, 26496393, 20497194, 17405132, 9624053, 26927203, 25649381, 22009552, 10738000, 25525159, 25366773, 23755871, 18452394, 26667666, 18665195, 18641288, 19881469, 27344577, 15015129, 26969326, 15241801, 27353947, 23940504, 12525556, 15823922, 20052763, 25425308, 19788668, 24516651, 15025721, 28000701, 12112664, 25472526, 20507924, 15325563, 16963483, 20309401, 16098008, 14970843, 11311042, 25324289, 10729113, 15671307, 18273898, 28005958, 28894305, 25412400, 22135276, 25252889, 25991456, 24603341, 26872967, 26377068, 23737954, 25356976, 24853665, 21738395, 28512305, 24901346, 26338283, 19683999, 25575603, 21569298, 21151602, 27318125, 24938718, 28944237, 28981474, 25404053, 19737284, 17085681, 27460420, 10909849, 27032803, 22004887, 25558175, 24625443, 27208204, 27583663, 21593743, 27157150, 24265693, 21686329, 24607488, 23591405, 26856745, 28761320, 18665192, 27624628, 28041643, 25211151, 25133613, 26310143
CDH23 15353998, 12075507, 12522556
PDZD7
USHER SYNDROME, TYPE IC C1848604 USH1C 21487335, 25468891, 27440999, 17407589, 22135276, 25525159, 27460420, 9760205, 27957503, 12107438, 11139240, 28041643, 21203349, 25356976, 23251578, 24498627, 24416283
Usher syndrome, type 1C C2931207 USH1C 12136232
USHER SYNDROME, TYPE ID C1832845 SEC23B
CDH23 11138009, 23451239, 15537665, 12075507, 18429043, 15660226, 2706105, 16679490
PCDH15 26872967, 15537665, 22815625, 23135401, 25307757, 25525159, 18719945, 25262649, 12711741
C10orf105
CDH23-AS1
USHER SYNDROME, TYPE IJ C3553944 CIB2 23023331, 9931475
USHER SYNDROME, TYPE IV C4748364 ARSG 29300381, 22689975
Usher syndrome, type 1D C2931208 CDH23
PCDH15
Usher Syndrome, Type IF C1865885 PCDH15 25525159, 11398101, 18719945, 22135276, 27440999, 25307757, 23135401, 27743452, 24618850, 18484607, 26445815, 22815625, 15660226, 23451239, 11487575, 25425308, 16679490, 25262649, 21436283, 19375528, 25404053, 12711741, 14570705, 24940003, 15537665, 16963483, 26166082, 25575603, 23591405, 19683999, 21569298, 15028842, 26791358, 24705292
Usher syndrome, type 1F C2931210 PCDH15
Usher syndrome, type 2C C2931213 PDZD7 26416264
ADGRV1 23035094, 14740321, 26872967, 16775142, 22147658, 17295842, 25406310, 26164827, 25743181, 25572244, 26432996, 9734811
LUCAT1
USHER SYNDROME, TYPE IG C1847089 OTOP2
USH1G 20142502, 12588794, 16283141, 24608321
Usher syndrome type 3 231183 CEP78
ARSG
CLRN1
HARS1
Usher syndrome type 1 231169 USH1K
CDH23
USH1C
USH1G
MYO7A
PCDH15
USH1E
USH1H
CIB2
ESPN