ASXL2, ASXL transcriptional regulator 2, 55252

N. diseases: 89; N. variants: 8
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: C4310672
Disease: SHASHI-PENA SYNDROME
SHASHI-PENA SYNDROME 		disease Disease or Syndrome 1 6 0.400 strong 1.000 1 6 2016 2016
CUI: C4023689
Disease: Abnormality of copper homeostasis
Abnormality of copper homeostasis 		phenotype Finding 3 2 0.100 None 0 1
CUI: C1854408
Disease: Glabellar hemangioma
Glabellar hemangioma 		disease Neoplasms Neoplastic Process 6 4 0.100 None 0 1
CUI: C0428465
Disease: Serum lipids high (finding)
Serum lipids high (finding) 		phenotype Finding 7 7 0.100 None 0 1
CUI: C0685707
Disease: Muscular ventricular septum defect
Muscular ventricular septum defect 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 9 4 0.100 None 0 1
CUI: C1855670
Disease: Abnormal cornea morphology
Abnormal cornea morphology 		group Finding 9 4 0.100 None 0 1
CUI: C4021959
Disease: Round ear
Round ear 		disease Anatomical Abnormality 10 4 0.100 None 0 1
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		disease Pathological Conditions, Signs and Symptoms Anatomical Abnormality 20 11 0.100 None 0 1
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		phenotype Finding 23 8 0.100 None 0
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		phenotype Finding 24 28 0.100 None 0 1
CUI: C0332573
Disease: Macule
Macule 		phenotype Finding 31 2 0.100 None 0 1
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		phenotype Pathologic Function 32 37 0.100 None 0 1
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		phenotype Finding 36 13 0.100 None 0 1
CUI: C0151878
Disease: Prolonged QT interval
Prolonged QT interval 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 38 12 0.100 None 0 1
CUI: C1292780
Disease: Therapy-related myelodysplastic syndrome
Therapy-related myelodysplastic syndrome 		disease Hemic and Lymphatic Diseases Neoplastic Process 42 0.010 None 1.000 1 2004 2004
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		phenotype Congenital Abnormality 45 7 0.100 None 0 1
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 46 10 0.100 None 0 1
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis 		phenotype Eye Diseases Finding 50 14 0.100 None 0 1
CUI: C0158986
Disease: Neonatal hypoglycemia
Neonatal hypoglycemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 55 13 0.100 None 0 1
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		phenotype Finding 64 4 0.100 None 0 1
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		phenotype Finding 64 116 0.100 None 0 1
CUI: C0241240
Disease: Tall stature
Tall stature 		phenotype Finding 79 14 0.100 None 0 1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		phenotype Finding 103 93 0.100 None 0 1
CUI: C0206733
Disease: Strawberry nevus of skin
Strawberry nevus of skin 		disease Neoplasms Neoplastic Process 112 10 0.100 None 0 1
CUI: C0043094
Disease: Weight Gain
Weight Gain 		phenotype Pathological Conditions, Signs and Symptoms Finding 124 12 0.100 None 0 1