Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6657
Gene Symbol: SOX2
SOX2
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.300 GermlineCausalMutation ORPHANET New insights into septo-optic dysplasia. 24802313

2014

Entrez Id: 6657
Gene Symbol: SOX2
SOX2
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.300 GermlineCausalMutation ORPHANET Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond. 21396578

2011

Entrez Id: 6657
Gene Symbol: SOX2
SOX2
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.300 GermlineCausalMutation ORPHANET Septo-optic dysplasia. 19623216

2010

Entrez Id: 6657
Gene Symbol: SOX2
SOX2
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.300 GermlineCausalMutation ORPHANET Genetics of septo-optic dysplasia. 17587179

2007