ATRX, ATRX chromatin remodeler, 546

N. diseases: 412; N. variants: 38
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0796159
Disease: Mental retardation Smith Fineman Myers type
Mental retardation Smith Fineman Myers type 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 0.310 None 1.000 2 2000 2000
CUI: C1839727
Disease: Mental Retardation with Spastic Paraplegia
Mental Retardation with Spastic Paraplegia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 0.010 None 1.000 1 2000 2000
CUI: C2873755
Disease: Triple gene defect alpha thalassemia
Triple gene defect alpha thalassemia 		disease Disease or Syndrome 1 0.200 None 0
CUI: C3161173
Disease: Hemoglobin H Constant Spring
Hemoglobin H Constant Spring 		disease Disease or Syndrome 1 0.200 None 0
CUI: C3161175
Disease: Hydrops fetalis due to alpha thalassemia
Hydrops fetalis due to alpha thalassemia 		disease Disease or Syndrome 1 0.200 None 0
CUI: C4016452
Disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED
MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED 		disease Finding 1 8 0.100 None 0 8
CUI: C4021070
Disease: Absent mastoid
Absent mastoid 		disease Congenital Abnormality 1 0.100 None 0
CUI: C4021166
Disease: Bridged palmar crease
Bridged palmar crease 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4022543
Disease: Accessory scrotum
Accessory scrotum 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4023950
Disease: Enlarged epiphyses of the distal phalanges of the hand
Enlarged epiphyses of the distal phalanges of the hand 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C3640999
Disease: High Grade Astrocytic Tumor
High Grade Astrocytic Tumor 		disease Neoplasms Neoplastic Process 2 2 0.010 None 1.000 1 2018 2018
CUI: C1839765
Disease: Triangular nasal tip
Triangular nasal tip 		phenotype Finding 2 0.100 None 0
CUI: C1856886
Disease: Hypoplastic philtrum
Hypoplastic philtrum 		phenotype Finding 2 0.100 None 0
CUI: C4022909
Disease: Excessive femoral anteversion
Excessive femoral anteversion 		phenotype Finding 2 0.100 None 0
CUI: C4531035
Disease: Abnormal pulmonary valve cusp morphology
Abnormal pulmonary valve cusp morphology 		phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C0272005
Disease: Hemoglobin Bart's hydrops syndrome
Hemoglobin Bart's hydrops syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 3 0.200 None 0
CUI: C0426636
Disease: Urgent desire for stool
Urgent desire for stool 		phenotype Digestive System Diseases Sign or Symptom 3 0.100 None 0
CUI: C2873754
Disease: Severe alpha thalassemia
Severe alpha thalassemia 		disease Disease or Syndrome 3 0.200 None 0
CUI: C4020755
Disease: Abnormality of fontanelles
Abnormality of fontanelles 		disease Anatomical Abnormality 3 0.100 None 0
CUI: C4022606
Disease: Lack of bowel sounds
Lack of bowel sounds 		phenotype Finding 3 0.100 None 0
CUI: C4025812
Disease: Dermatological manifestations of systemic disorders
Dermatological manifestations of systemic disorders 		phenotype Finding 3 0.100 None 0
CUI: C4072942
Disease: Atypical pulmonary carcinoid tumor
Atypical pulmonary carcinoid tumor 		disease Neoplastic Process 3 0.100 None 0
CUI: C4476938
Disease: Impairment of activities of daily living
Impairment of activities of daily living 		phenotype Finding 3 0.100 None 0
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 14 0.720 definitive 1.000 20 10 1995 2020
CUI: C0585216
Disease: Alpha-Thalassemia Myelodysplasia Syndrome
Alpha-Thalassemia Myelodysplasia Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Neoplastic Process 4 3 0.710 moderate 1.000 2 3 2003 2006