Oculopharyngodistal myopathy

Disease Term Disease ID Gene Symbol Classification References Source
OCULOPHARYNGODISTAL MYOPATHY
98897C1834014MONDO:0025193
ABCD3 Unknown
39068203
Disgenet Orphanet
GIPC1 Unknown
33374016
Disgenet GWAS catalog Orphanet
LRP12 Unknown
31332380
Disgenet Orphanet
NOTCH2NLC Unknown
33693509
Disgenet Orphanet
RILPL1 Unknown
35700120
Disgenet Orphanet
OCULOPHARYNGODISTAL MYOPATHY 1
164310C5231388MONDO:0020793
LRP12 Unknown — ClinGen ClinVar Disgenet GenCC HPO
OCULOPHARYNGODISTAL MYOPATHY 2
618940C5394548MONDO:0030134
GIPC1 Unknown
32413282 33374016
ClinVar Disgenet GWAS catalog HPO
OCULOPHARYNGODISTAL MYOPATHY 3
619473C5561956MONDO:0023671
NOTCH2NLC Unknown — ClinVar Disgenet HPO
OCULOPHARYNGODISTAL MYOPATHY 4
619790C5676941MONDO:0030712
RILPL1 Unknown — ClinVar Disgenet GenCC HPO