Disease Term Disease ID Gene Symbol Classification References Source
DEAFNESS GJB2 Causal CTD
JAG1 Causal CTD
OTOF Causal CTD
PJVK Causal CTD
AK2 Unknown CTD
BDNF Unknown CTD
CACNA1D Unknown CTD
CDC14A Unknown CTD
CLDN14 Unknown CTD
CRYL1 Unknown GWAS catalog
ESPN Unknown CTD
GJB3 Unknown CTD
GJB6 Unknown GWAS catalog
LRRC51 Unknown CTD
MITF Unknown CTD
PAX3 Unknown CTD
PCDH15 Unknown CTD
POLD1 Unknown CTD
SERAC1 Unknown CTD
SLC26A5 Unknown CTD
SMAD4 Unknown CTD
TMTC2 Unknown CTD
DEAFNESS, AUTOSOMAL DOMINANT 1 DIAPH1 Unknown CTD Disgenet
DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA DIAPH1 Unknown HPO
DEAFNESS, AUTOSOMAL DOMINANT 10 EYA4 Unknown CTD Disgenet HPO
DEAFNESS, AUTOSOMAL DOMINANT 11 MYO7A Unknown CTD Disgenet HPO
DEAFNESS, AUTOSOMAL DOMINANT 12 TBCEL-TECTA Unknown Disgenet
TECTA Unknown CTD Disgenet HPO
DEAFNESS, AUTOSOMAL DOMINANT 13 COL11A2 Unknown CTD Disgenet HPO
DEAFNESS, AUTOSOMAL DOMINANT 15 POU4F3 Unknown CTD Disgenet HPO
DEAFNESS, AUTOSOMAL DOMINANT 16 STRC Unknown Disgenet
DEAFNESS, AUTOSOMAL DOMINANT 17 MYH9 Unknown Disgenet HPO
DEAFNESS, AUTOSOMAL DOMINANT 20 ACTG1 Unknown CTD Disgenet HPO
DEAFNESS, AUTOSOMAL DOMINANT 21 RIPOR2 Unknown CTD Disgenet HPO
DEAFNESS, AUTOSOMAL DOMINANT 22 MYO6 Unknown HPO
DEAFNESS, AUTOSOMAL DOMINANT 22,DFNA22 DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, MYO6 Unknown CTD
DEAFNESS, AUTOSOMAL DOMINANT 23 SIX1 Unknown CTD Disgenet HPO
DEAFNESS, AUTOSOMAL DOMINANT 25 SLC17A8 Unknown CTD Disgenet HPO
DEAFNESS, AUTOSOMAL DOMINANT 27 REST Unknown CTD Disgenet HPO
DEAFNESS, AUTOSOMAL DOMINANT 28 GRHL2 Unknown CTD Disgenet HPO
DEAFNESS, AUTOSOMAL DOMINANT 2A KCNQ4 Unknown CTD Disgenet HPO
DEAFNESS, AUTOSOMAL DOMINANT 2B GJB3 Unknown CTD Disgenet HPO
DEAFNESS, AUTOSOMAL DOMINANT 30 MYO3A Unknown Disgenet
DEAFNESS, AUTOSOMAL DOMINANT 33 ATP11A Unknown Disgenet
COL11A2 Unknown Disgenet
DEAFNESS, AUTOSOMAL DOMINANT 36 TMC1 Unknown CTD Disgenet HPO
USH2A Unknown Disgenet
DEAFNESS, AUTOSOMAL DOMINANT 37 COL11A1 Unknown Disgenet HPO
DEAFNESS, AUTOSOMAL DOMINANT 3A GJB2 Unknown CTD Disgenet HPO
GJB4 Unknown Disgenet