Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.130 GeneticVariation BEFREE Ophthalmic findings were present in 3 of the 4 siblings with ECEL1-related distal arthrogryposis: bilateral ptosis with bilateral congenital fibrosis of the extraocular muscles, right ptosis with ipsilateral Y exotropia (exotropia increasing in upgaze), and right ptosis with ipsilateral Duane retraction syndrome. 25173900

2014
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.130 Biomarker BEFREE DA5D is characterized by ocular involvement usually in the form of ptosis and incomitant strabismus, but extraocular manifestations have also been reported. 23829171

2014
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.130 GeneticVariation BEFREE DA type 5D (DA5D) is a rare, autosomal-recessive DA previously defined by us and is characterized by congenital contractures of the hands and feet, along with distinctive facial features, including ptosis. 23261301

2013
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.130 CausalMutation CLINVAR

Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.130 Biomarker HPO