Usher syndrome

Disease Term Disease ID Gene Symbol Classification References Source
USHER SYNDROME
C0271097
ADGRV1 Causal — Disgenet
ARSG Causal — Disgenet
BBS1 Causal — Disgenet
CDH23 Causal — Disgenet
CEP250 Causal — Disgenet
CIB2 Causal — Disgenet
CLRN1 Causal — Disgenet
MYO7A Causal — Disgenet
PCDH15 Causal — Disgenet
PDZD7 Causal — Disgenet
PROM1 Causal — Disgenet
SLC9B1 Causal — Disgenet
USH1C Causal — Disgenet
USH1G Causal — Disgenet
USH2A Causal — Disgenet
WHRN Causal — Disgenet
ATP6V1B1 Unknown — Disgenet
C10ORF105 Unknown — Disgenet
CABP4 Unknown — Disgenet
CCDC40 Unknown — Disgenet
COCH Unknown — Disgenet
COL4A4 Unknown — Disgenet
CRX Unknown — Disgenet
DGKQ Unknown — Disgenet
FMC1 Unknown — Disgenet
FMC1-LUC7L2 Unknown — Disgenet
GUCA1A Unknown — Disgenet
GUCA1ANB-GUCA1A Unknown — Disgenet
HDAC6 Unknown — Disgenet
KIF11 Unknown — Disgenet
LUC7L2 Unknown — Disgenet
OTOA Unknown — Disgenet
OTOP2 Unknown — Disgenet
PAX3 Unknown — Disgenet
PDE6A Unknown — Disgenet
PRPH2 Unknown — Disgenet
SERPINB6 Unknown — Disgenet
ZDHHC24 Unknown — Disgenet
USHER SYNDROME TYPE 1
231169MONDO:0010168
CDH23 Causal
20301442
ClinGen GenCC Orphanet
CIB2 Causal
20301442 23023331
ClinGen Disgenet Orphanet
ESPN Causal
29572253
ClinVar Orphanet
MYO7A Causal
10958658 18181211 20301442 23559863 25211151 27013738 28400833 28660889 7870172 8622919
CTD ClinGen ClinVar Orphanet
PCDH15 Causal
20301442
ClinGen GenCC Orphanet
USH1C Causal
20301442 32412666 34684815 34733232
ClinGen ClinVar GenCC Orphanet
USH1G Causal
20301442 32367058 36943151
ClinGen GenCC Orphanet
USHER SYNDROME TYPE 1B
MONDO:0700087
MYO7A Causal — GenCC
USHER SYNDROME TYPE 1C
MONDO:0010171
USH1C Causal — ClinVar GenCC
USHER SYNDROME TYPE 1D
MONDO:0010984
CDH23 Causal
15537665 11090341 21228398 11138009 25963016
ClinVar GWAS catalog
PCDH15 Causal — ClinVar
USHER SYNDROME TYPE 1F
MONDO:0011186
PCDH15 Causal — ClinVar GenCC