Mitochondria Phenome Knowledgebase

Phenotypic Feature Blepharoptosis finds 20 Gene-Feature associations that are associated with 20 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ACADS 201470 Blepharoptosis ptosis ophthalmologic 3335634 3571488 9932958
ACSL4 300387 Blepharoptosis unilateral ptosis ophthalmologic 11889465
BCS1L 124000 Blepharoptosis ptosis ophthalmologic 12910490
COX10 220110 Blepharoptosis ptosis ophthalmologic 10767350
DLAT 245348 Blepharoptosis mild ptosis; intermittend ophthalmologic 16049940
DMPK 160900 Blepharoptosis variable ptosis; lid drop ophthalmologic 7811171 10935840 11424841 12639730 14726854 15770660
ECGF1 603041 Blepharoptosis bilateral ptosis; ptosis ophthalmologic 9683610 12177387 15042378 15781193 16120316 16178026 16198108 16294144 16498612 16530527
LRPPRC 220111 Blepharoptosis ptosis ophthalmologic 8392290 8392291 11156535
NDUFV1 252010 Blepharoptosis bilateral ptosis ophthalmologic 11349233
OPA1 125250 Blepharoptosis upper eyelid ptosis ophthalmologic 15531309
PDHA1 312170 Blepharoptosis ptosis; episodes ophthalmologic 9686362 15384102
PEO1 271245 Blepharoptosis ptosis ophthalmologic 8133312
PEO1 607459 Blepharoptosis ptosis; bilateral ptosis ophthalmologic 15668446
PEO1 609286 Blepharoptosis bilateral ptosis; bilateral; progressive ophthalmologic 1634620 9153451 10522883 12163192 12707443 12921794 15258213
POLG 157640 Blepharoptosis bilateral ptosis; progressive ophthalmologic 12975295 15351195 15534189
POLG 258450 Blepharoptosis bilateral ptosis; ptosis ophthalmologic 12707443 12975295 15351195 15477547 16401742 16638794 16715201
POLG 607459 Blepharoptosis ptosis ophthalmologic 12565911
POLG2 157640 Blepharoptosis drooping of the eyelids; progressive; ptosis ophthalmologic 16685652
PUS1 600462 Blepharoptosis mild ptosis; bilateral ophthalmologic 14981724
SCO2 604377 Blepharoptosis ptosis ophthalmologic 11673586 16765077
SLC25A4 609283 Blepharoptosis bilateral ptosis; progressive ophthalmologic 10364542 10926541 11756613 12112115 12565915 12707443 15792871
SUCLA2 609560 Blepharoptosis mild ptosis ophthalmologic 15877282
SURF1 220110 Blepharoptosis ptosis ophthalmologic 16225813
TK2 609560 Blepharoptosis bilateral ophthalmologic 12269728 12682338 16504786

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