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: C1860268
Disease: Gonadal tissue inappropriate for external genitalia or chromosomal sex
Gonadal tissue inappropriate for external genitalia or chromosomal sex 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Finding 1 0.100 None 0
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 385 49 0.100 None 0
CUI: C4025860
Disease: Hearing abnormality
Hearing abnormality 		disease Finding 24 5 0.100 None 0
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 59 14 0.100 None 0
CUI: C0302885
Disease: Testicular dysgenesis
Testicular dysgenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 13 2 0.100 None 0
CUI: C0281842
Disease: Abnormality of the fallopian tube
Abnormality of the fallopian tube 		phenotype Anatomical Abnormality 22 0.100 None 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.100 None 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 586 53 0.100 None 0
CUI: C2673946
Disease: Foveal hypoplasia (finding)
Foveal hypoplasia (finding) 		phenotype Finding 25 4 0.100 None 0
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 596 81 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: 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: C4024748
Disease: Aplasia/Hypoplasia of the iris
Aplasia/Hypoplasia of the iris 		disease Anatomical Abnormality 52 0.100 None 0
CUI: C0027498
Disease: Nausea and vomiting
Nausea and vomiting 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 257 11 0.100 None 0
CUI: C4025891
Disease: Ambiguous genitalia, female
Ambiguous genitalia, female 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 10 0.100 None 0
CUI: C4025892
Disease: Abnormality of the labia
Abnormality of the labia 		disease Anatomical Abnormality 11 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: C1862265
Disease: Increased circulating gonadotropin level
Increased circulating gonadotropin level 		phenotype Nervous System Diseases; Endocrine System Diseases Finding 34 0.100 None 0
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype Cell or Molecular Dysfunction 151 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype Finding 295 14 0.100 None 0
CUI: C0520743
Disease: Mediastinal lymphadenopathy
Mediastinal lymphadenopathy 		disease Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 19 0.100 None 0
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 277 5 0.100 None 0
CUI: C0445118
Disease: Nephrotic range proteinuria
Nephrotic range proteinuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 7 7 0.100 None 0 2
CUI: C0423250
Disease: Corneal stromal opacities
Corneal stromal opacities 		phenotype Eye Diseases Finding 46 0.100 None 0