ATRX, ATRX chromatin remodeler, 546

N. diseases: 412; N. variants: 38
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome 		0.720 GermlineCausalMutation disease ORPHANET Carpenter-Waziri syndrome results from a mutation in XNP. 10398237 1999
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome 		0.720 GermlineCausalMutation disease ORPHANET XNP mutation in a large family with Juberg-Marsidi syndrome. 8630485 1996
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome 		0.720 GermlineCausalMutation disease ORPHANET Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome. 11050622 2000
CUI: C0796159
Disease: Mental retardation Smith Fineman Myers type
Mental retardation Smith Fineman Myers type 		0.310 GermlineCausalMutation disease ORPHANET Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome. 10751095 2000
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		1.000 CausalMutation disease CLINVAR ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome. 8968741 1996
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		1.000 CausalMutation disease CLINVAR Functional significance of mutations in the Snf2 domain of ATRX. 21505078 2011
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome 		0.720 CausalMutation disease CLINVAR A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy. 10632111 2000
CUI: C0585216
Disease: Alpha-Thalassemia Myelodysplasia Syndrome
Alpha-Thalassemia Myelodysplasia Syndrome 		0.710 CausalMutation disease CLINVAR
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.410 CausalMutation disease CLINVAR
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.380 CausalMutation disease CGI
CUI: C1328479
Disease: Pancreatic Endocrine Carcinoma
Pancreatic Endocrine Carcinoma 		0.300 CausalMutation disease CGI
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.200 CausalMutation disease CLINVAR
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.150 CausalMutation disease CLINVAR
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.130 CausalMutation disease CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 CausalMutation disease CLINVAR
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias. 10417298 1999
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma. 28371217 2017
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Carpenter-Waziri syndrome results from a mutation in XNP. 10398237 1999
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR X linked mental retardation: a clinical guide. 16118346 2006
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS). 12858175 2003
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X). 24805811 2015
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome. 16813605 2006
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Expanding phenotype of XNP mutations: mild to moderate mental retardation. 12116232 2002
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome. 11050622 2000
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes. 10570185 1999