Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0033377
Disease: Ptosis
Ptosis 		0.120 GeneticVariation BEFREE Classical SCS associated with a TWIST 1 mutation could be separated phenotypically from the Muenke phenotype on the basis of the following features: low-set frontal hairline, gross ptosis of eyelids, subnormal ear length, dilated parietal foramina, interdigital webbing, and hallux valgus or broad great toe with bifid distal phalanx. 16251895

2006
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0033377
Disease: Ptosis
Ptosis 		0.120 GeneticVariation BEFREE Saethre-Chotzen syndrome (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant craniosynostosis with brachydactyly, soft tissue syndactyly and facial dysmorphism including ptosis, facial asymmetry and prominent ear crura. 8988167

1997
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0033377
Disease: Ptosis
Ptosis 		0.120 Biomarker HPO