Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome 		0.720 GermlineCausalMutation ORPHANET Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome. 11050622

2000
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome 		0.720 GermlineCausalMutation ORPHANET Carpenter-Waziri syndrome results from a mutation in XNP. 10398237

1999
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome 		0.720 GermlineCausalMutation ORPHANET XNP mutation in a large family with Juberg-Marsidi syndrome. 8630485

1996