Mitochondria Phenome Knowledgebase

Phenotypic Feature Electroretinography-abnormal finds 14 Gene-Feature associations that are associated with 14 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
AMACR 604489 Electroretinography-abnormal marked reduction; bilateral; N95 components reduced ophthalmologic 15249642
CLN3 204200 Electroretinography-abnormal ERG abnormal; abolished electroretinogram; scotopic responses diminished; photopic responses diminished; nonrecordable ERG ophthalmologic 9392580 10964839 15032383
COX10 220110 Electroretinography-abnormal consistent with tapetoretinal degeneration ophthalmologic 2834526
HADHA 609016 Electroretinography-abnormal decrease in amplitude ophthalmologic 8736409 9003853
NDUFS2 252010 Electroretinography-abnormal abnormal electroretinogram; ERG ophthalmologic 11220739
NDUFS3 252010 Electroretinography-abnormal retroretinal conduction impairment ophthalmologic 14729820
OAT 258870 Electroretinography-abnormal corneal ERG responses absent; diffuse retinopathy; cone dysfunction; rod dysfunction; extracorneal ERG abnormal; ERG amplitude decreased ophthalmologic 4068589 11297489 11831916 15159649
OPA1 125250 Electroretinography-abnormal ophthalmologic 6493699 15531309
OPA1 165500 Electroretinography-abnormal pattern ERG abnormal; latency abnormal; ganglion cell dysfunction; N95 P50 ratio reduction ophthalmologic 9514489 11017080 16331355
PANK2 234200 Electroretinography-abnormal cone pattern; rod pattern; loss of rod responses; loss of cone responses; cone rod dysfunction; electroretinographic potentials absent ophthalmologic 7503394 16023068
PANK2 607236 Electroretinography-abnormal tapetoretinal degeneration ophthalmologic 7898702 14638969
PDHA1 312170 Electroretinography-abnormal electroretinogram was abnormal in macula ophthalmologic 16256390
POLG 607459 Electroretinography-abnormal mild reduction in the amplitude of the b wave; scotopic ERG abnormal ophthalmologic 12565911
SLC19A2 249270 Electroretinography-abnormal amplitude decreased ophthalmologic 16373304
TIMM8A 304700 Electroretinography-abnormal ERG abnormal; response amplitude decreased; oscillatory potentials; bilateral ophthalmologic 13771732 15037720
TK2 609560 Electroretinography-abnormal b wave responses absent ophthalmologic 12682338

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