HESX1, HESX homeobox 1, 8820

N. diseases: 6; N. variants: 11
Disease: Kallmann Syndrome ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.310 GermlineCausalMutation disease ORPHANET New insights into septo-optic dysplasia. 24802313 2014
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.310 GermlineCausalMutation disease 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
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.310 GermlineCausalMutation disease ORPHANET Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond. 21396578 2011
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.310 GermlineCausalMutation disease ORPHANET Septo-optic dysplasia. 19623216 2010
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.310 GermlineCausalMutation disease ORPHANET Genetics of septo-optic dysplasia. 17587179 2007