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: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		1.000 Biomarker disease CTD_human
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		1.000 Biomarker disease MGD
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		1.000 GeneticVariation disease CLINVAR
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome 		0.720 Biomarker disease CTD_human
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome 		0.720 GeneticVariation disease CLINVAR
CUI: C0585216
Disease: Alpha-Thalassemia Myelodysplasia Syndrome
Alpha-Thalassemia Myelodysplasia Syndrome 		0.710 SomaticCausalMutation disease ORPHANET
CUI: C0585216
Disease: Alpha-Thalassemia Myelodysplasia Syndrome
Alpha-Thalassemia Myelodysplasia Syndrome 		0.710 CausalMutation disease CLINVAR
CUI: C0585216
Disease: Alpha-Thalassemia Myelodysplasia Syndrome
Alpha-Thalassemia Myelodysplasia Syndrome 		0.710 Biomarker disease CTD_human
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.470 Biomarker group HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.410 CausalMutation disease CLINVAR
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.410 Biomarker disease HPO
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.380 CausalMutation disease CGI
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		0.300 Biomarker disease MGD
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: C0272005
Disease: Hemoglobin Bart's hydrops syndrome
Hemoglobin Bart's hydrops syndrome 		0.200 Biomarker disease MGD
CUI: C2873754
Disease: Severe alpha thalassemia
Severe alpha thalassemia 		0.200 Biomarker disease MGD
CUI: C2873755
Disease: Triple gene defect alpha thalassemia
Triple gene defect alpha thalassemia 		0.200 Biomarker disease MGD
CUI: C3161173
Disease: Hemoglobin H Constant Spring
Hemoglobin H Constant Spring 		0.200 Biomarker disease MGD
CUI: C3161175
Disease: Hydrops fetalis due to alpha thalassemia
Hydrops fetalis due to alpha thalassemia 		0.200 Biomarker disease MGD
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 Biomarker group HPO
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.150 CausalMutation disease CLINVAR
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		0.130 Biomarker disease HPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.130 CausalMutation disease CLINVAR
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.130 Biomarker disease HPO