Approved Symbol |
Approved Name |
Source |
Evidence[PMID] |
TBX1 |
T-box 1 |
Mapped by CNV |
ISS
|
GJB6 |
gap junction protein, beta 6, 30kDa |
Mapped by significant region |
IEA
|
TIMM8B |
translocase of inner mitochondrial membrane 8 homolog B (yeast) |
Mapped by significant region |
TAS[10552927]
|
EYA4 |
eyes absent homolog 4 (Drosophila) |
Mapped by significant region |
IEA
|
RPL38 |
ribosomal protein L38 |
Mapped by CNV |
IEA
|
NIPBL |
Nipped-B homolog (Drosophila) |
Mapped by significant region |
IMP[15146186]
|
HOXA1 |
homeobox A1 |
Mapped by significant region |
IDA[16155570]
|
MAP1A |
microtubule-associated protein 1A |
Mapped by LD-proxy |
IEA
|
AXIN1 |
axin 1 |
Mapped by significant region |
IEA
|
COCH |
cochlin |
Mapped by significant region |
IEA
|
CRYM |
crystallin, mu |
Mapped by significant region |
IMP[12471561]
|
TECTA |
tectorin alpha |
Mapped by significant region |
IEA
|
TIMM10 |
translocase of inner mitochondrial membrane 10 homolog (yeast) |
Mapped by significant region |
TAS[10552927]
|
AQP4 |
aquaporin 4 |
Mapped by significant region |
IEA
|
DFNB31 |
deafness, autosomal recessive 31 |
Mapped by significant region |
IMP[17171570]
|
MYO15A |
myosin XVA |
Mapped by significant region |
IEA
|
DFNA5 |
deafness, autosomal dominant 5 |
Mapped by CNV; Mapped by significant region |
TAS[9771715]
|
LRTOMT |
leucine rich transmembrane and O-methyltransferase domain containing |
Mapped by significant region |
ISS[18794526]
|
GABRA5 |
gamma-aminobutyric acid (GABA) A receptor, alpha 5 |
Mapped by CNV; Mapped by significant region |
IEA
|
OTOA |
otoancorin |
Mapped by significant region |
IEA
|
MYO7A |
myosin VIIA |
Mapped by significant region |
IMP[11398101]
|
FZD4 |
frizzled class receptor 4 |
Mapped by significant region |
IEA
|
GABRB3 |
gamma-aminobutyric acid (GABA) A receptor, beta 3 |
Mapped by CNV; Mapped by significant region |
IEA
|
GJB2 |
gap junction protein, beta 2, 26kDa |
Mapped by significant region |
IEA
|
CACNA1D |
calcium channel, voltage-dependent, L type, alpha 1D subunit |
Mapped by PBA pathway |
IMP
|