WT1, WT1 transcription factor, 7490

N. diseases: 446; N. variants: 61
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: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 384 96 0.100 None 0
CUI: C4025749
Disease: Abnormality of the spleen
Abnormality of the spleen
disease Anatomical Abnormality 26 1 0.100 None 0
CUI: C1856023
Disease: Abnormal vagina morphology
Abnormal vagina morphology
phenotype Finding 12 0.100 None 0
CUI: C4025698
Disease: Abnormality of the peritoneum
Abnormality of the peritoneum
disease Anatomical Abnormality 9 0.100 None 0
CUI: C4024996
Disease: Aplasia/Hypoplasia of the lungs
Aplasia/Hypoplasia of the lungs
phenotype Finding 29 0.100 None 0
CUI: C0241355
Disease: Small testicle
Small testicle
phenotype Finding 129 0.100 None 0
CUI: C4024748
Disease: Aplasia/Hypoplasia of the iris
Aplasia/Hypoplasia of the iris
disease Anatomical Abnormality 52 0.100 None 0
CUI: C0241011
Disease: Low serum estradiol levels
Low serum estradiol levels
phenotype Finding 33 0.100 None 0
CUI: C1858573
Disease: Sparse pubic hair
Sparse pubic hair
phenotype Finding 42 0.100 None 0
CUI: C1858574
Disease: Sparse axillary hair
Sparse axillary hair
phenotype Finding 39 0.100 None 0
CUI: C0221353
Disease: Horseshoe Kidney
Horseshoe Kidney
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 51 3 0.100 None 0
Gonadal dysgenesis with female appearance, male
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 2 0.100 None 0
Elevated circulating luteinizing hormone level
phenotype Finding 23 0.100 None 0
CUI: C1855496
Disease: Contiguous gene syndrome
Contiguous gene syndrome
disease Disease or Syndrome 52 0.100 None 0
CUI: C4025860
Disease: Hearing abnormality
Hearing abnormality
disease Finding 24 5 0.100 None 0
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 426 87 0.100 None 0
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 27 0.100 None 0
CUI: C1837352
Disease: Childhood onset
Childhood onset
phenotype Finding 56 0.100 None 0
Female external genitalia in individual with 46,XY karyotype
phenotype Finding 17 1 0.100 None 0
CUI: C0018965
Disease: Hematuria
Hematuria
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 235 31 0.100 None 0
CUI: C4073137
Disease: Decreased serum testosterone level
Decreased serum testosterone level
phenotype Finding 47 0.100 None 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.100 None 0
Abnormality of cardiovascular system morphology
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 198 13 0.100 None 0
CUI: C4025895
Disease: Abnormality of the scrotum
Abnormality of the scrotum
disease Anatomical Abnormality 13 2 0.100 None 0
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip
phenotype Finding 105 3 0.100 None 0