KLF1, Kruppel like factor 1, 10661

N. diseases: 64; N. variants: 15
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.
Congenital dyserythropoietic anemia, type I
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 8 12 0.300 None 0
Congenital dyserythropoietic anemia, type II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 21 14 0.300 None 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.100 None 0
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 131 27 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0
CUI: C1292231
Disease: In(Lu) phenotype (finding)
In(Lu) phenotype (finding)
phenotype Finding 1 10 0.400 moderate 0 10
CUI: C0030232
Disease: Pallor
Pallor
phenotype Pathological Conditions, Signs and Symptoms Finding 124 4 0.100 None 0
CUI: C0239941
Disease: Persistence of hemoglobin F
Persistence of hemoglobin F
phenotype Finding 9 0.100 None 0
CUI: C0678199
Disease: Anemia of inadequate production
Anemia of inadequate production
disease Hemic and Lymphatic Diseases Disease or Syndrome 10 3 0.100 None 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype Pathological Conditions, Signs and Symptoms Finding 345 19 0.100 None 0
CUI: C0206160
Disease: Reticulocytosis
Reticulocytosis
phenotype Pathological Conditions, Signs and Symptoms Finding 40 1 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
Congenital dyserythropoietic anemia, type III
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 6 0.300 None 0
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6
phenotype Finding 1 3 0.400 moderate 0 3
CUI: C4023620
Disease: Blood group antigen abnormality
Blood group antigen abnormality
phenotype Anatomical Abnormality 8 6 0.100 None 0 1
Absence of Lutheran antigen on erythrocytes
disease Anatomical Abnormality 1 1 0.100 None 0 1
CUI: C4025630
Disease: Abnormal bone structure
Abnormal bone structure
disease Anatomical Abnormality 7 0.100 None 0
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0014800
Disease: Erythroid hyperplasia
Erythroid hyperplasia
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 22 3 0.100 None 0
CUI: C0002891
Disease: Anemia, Neonatal
Anemia, Neonatal
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 6 0.010 None < 0.001 1 2017 2017
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest
disease Cardiovascular Diseases Disease or Syndrome 411 50 0.010 None < 0.001 1 2019 2019
Congenital dyserythropoietic anemia type IV
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 2 6 0.780 None 1.000 10 3 2010 2020
CUI: C0002871
Disease: Anemia
Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.190 None 1.000 9 1 2006 2018
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 80 43 0.080 None 1.000 8 2000 2019
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 198 103 0.260 None 1.000 7 1994 2019