Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8820
Gene Symbol: HESX1
HESX1
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia
1.000 GermlineCausalMutation ORPHANET New insights into septo-optic dysplasia. 24802313

2014

Entrez Id: 8820
Gene Symbol: HESX1
HESX1
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia
1.000 GermlineCausalMutation ORPHANET Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond. 21396578

2011

Entrez Id: 8820
Gene Symbol: HESX1
HESX1
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia
1.000 GermlineCausalMutation ORPHANET Septo-optic dysplasia. 19623216

2010

Entrez Id: 8820
Gene Symbol: HESX1
HESX1
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia
1.000 GermlineCausalMutation ORPHANET However, a number of familial cases have been described and the identification of mutations in the key developmental gene HESX1 in patients with SOD and associated phenotypes suggests that a genetic causation is likely in the more common sporadic cases of the condition. 17587179

2007