Auditory neuropathy

Disease Term Disease ID Gene Symbol Classification References Source
AUDITORY NEUROPATHY
C1852271MONDO:0021944
AIFM1 Causal — Disgenet
CACNA1A Causal — Disgenet
CDH2 Causal — Disgenet
KIF5A Causal — Disgenet
MFN2 Causal — Disgenet
MYO7A Causal — Disgenet
NEFL Causal — Disgenet
NOTCH3 Causal — Disgenet
OPA1 Causal — Disgenet
OTOF Causal — Disgenet
SLC52A3 Causal — Disgenet
TP63 Causal — Disgenet
TRPV4 Causal — Disgenet
TWNK Causal — Disgenet
WFS1 Causal — Disgenet
DIAPH3 Unknown
20624953 23441200
ClinGen Disgenet Orphanet
FDXR Unknown — Disgenet
RAB33A Unknown — Disgenet
TIMM8A Unknown — Disgenet
AUDITORY NEUROPATHY SPECTRUM DISORDER
C2732267
AIFM1 Causal — Disgenet
DIAPH1 Causal — Disgenet
H1-4 Causal — Disgenet
OTOF Causal — Disgenet
PLP1 Causal — Disgenet
SLC52A2 Causal — Disgenet
TBC1D24 Causal — Disgenet
TUBB4A Causal — Disgenet
CEP135 Unknown — Disgenet
ND6 Unknown — Disgenet
OPA1 Unknown — Disgenet
RAB33A Unknown — Disgenet
RAB9B Unknown — Disgenet
SLC17A8 Unknown — Disgenet
AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 1
609129
DIAPH3 Unknown — HPO
AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 2
620384C5830542MONDO:0957279
ATP11A Unknown
35278131 36300302
ClinVar Disgenet HPO
AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 3
619832C5676964MONDO:0859235
TMEM43 Unknown — ClinVar Disgenet GenCC HPO
AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1
C1836743MESH:C563790
DIAPH3 Unknown — CTD Disgenet
AUTOSOMAL DOMINANT AUDITORY NEUROPATHY 1
MONDO:0012196
DIAPH3 Causal — ClinVar GenCC