Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8820
Gene Symbol: HESX1
HESX1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.310 GermlineCausalMutation ORPHANET New insights into septo-optic dysplasia. 24802313

2014

Entrez Id: 8820
Gene Symbol: HESX1
HESX1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.310 GermlineCausalMutation ORPHANET Two novel heterozygous missense mutations (p.H42Y and p.V75L) and previously reported heterozygous missense mutation p.Q6H in HESX1 were identified in 3 of 217 patients (1.4%).All were males with KS. 23465708

2013

Entrez Id: 8820
Gene Symbol: HESX1
HESX1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.310 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: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.310 GermlineCausalMutation ORPHANET Septo-optic dysplasia. 19623216

2010

Entrez Id: 8820
Gene Symbol: HESX1
HESX1
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome
0.310 GermlineCausalMutation ORPHANET Genetics of septo-optic dysplasia. 17587179

2007