Mitochondria Phenome Knowledgebase

Phenotypic Feature Ophthalmoplegia finds 15 Gene-Feature associations that are associated with 15 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ACADS 201470 Ophthalmoplegia ophthalmoparesis ophthalmologic 9932958
DMPK 160900 Ophthalmoplegia ophthalmoparesis; extraocular muscle atrophy; vertical gazes abnormal; horizontal gazes abnormal; lagophthalmos ophthalmologic 5091121 15326270
ECGF1 603041 Ophthalmoplegia ophthalmoparesis; external; enophthalmos; Pathology finding; myopathic pattern; ocular muscles abnormal; muscle atrophy; round fibres; fibrosis ophthalmologic 9683610 12177387 14757860 15042378 15607208 15781193 16120316 16178026 16198108 16294144 16498612 16530527
HD 143100 Ophthalmoplegia horizontal ophthalmoplegia; vertical ophthalmoplegia; supranuclear ophthalmoplegia ophthalmologic 12075860
LRPPRC 220111 Ophthalmoplegia ophthalmologic 8392290 8392291 11156535
NDUFV1 252010 Ophthalmoplegia ophthalmologic 11349233
OPA1 125250 Ophthalmoplegia ophthalmoparesis; chronic; progressive; external ophthalmoplegia ophthalmologic 4058877 15531309
PEO1 271245 Ophthalmoplegia ophthalmologic 8133312 8159181 8552218 9027505 9879682 16135556
PEO1 607459 Ophthalmoplegia external ophthalmoplegia ophthalmologic 15668446
PEO1 609286 Ophthalmoplegia external ophthalmoplegia; ophthalmoparesis ophthalmologic 1634620 9153451 10522883 12163192 12921794 15258213
POLG 157640 Ophthalmoplegia ophthalmoparesis ophthalmologic 2067633 11431686 12975295 15351195 15534189
POLG 258450 Ophthalmoplegia ophthalmoparesis; late onset ophthalmoplegia ophthalmologic 12825077 12975295 15351195 15477547 16401742 16621917 16638794 16715201
POLG 607459 Ophthalmoplegia ophthalmoparesis ophthalmologic 12565911 15824347
POLG2 157640 Ophthalmoplegia progressive; external ophthlamoplegia ophthalmologic 16685652
SLC25A4 609283 Ophthalmoplegia external ophthalmoplegia; ophthalmoparesis; progressive ophthalmologic 10364542 10926541 11756613 12112115 12565915 15792871
SPAST 182601 Ophthalmoplegia rare finding ophthalmologic 8931574
SUCLA2 609560 Ophthalmoplegia external ophthalmoplegia; progressive ophthalmologic 15877282
SURF1 220110 Ophthalmoplegia external ophthalmoplegia; ophthalmoparesis; slow saccades; irregular eye movements ophthalmologic 9837813 10647889 10746561 14557577 15214016 16222681 16225813
TK2 609560 Ophthalmoplegia ophthalmoparesis ophthalmologic 16504786

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