WNT4, Wnt family member 4, 54361

N. diseases: 135; N. variants: 14
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: C0040072
Disease: Thymic Cyst
Thymic Cyst 		disease Neoplasms; Respiratory Tract Diseases Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C1832817
Disease: Klippel-Feil deformity, conductive deafness, and absent vagina
Klippel-Feil deformity, conductive deafness, and absent vagina 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2014 2014
CUI: C2678492
Disease: Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs
Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Respiratory Tract Diseases; Endocrine System Diseases Disease or Syndrome 2 1 0.600 moderate 1.000 2 1 2004 2008
CUI: C0266273
Disease: Congenital absence of adrenal gland
Congenital absence of adrenal gland 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Endocrine System Diseases Congenital Abnormality 2 0.100 None 0
CUI: C1841990
Disease: Aplasia of the vagina
Aplasia of the vagina 		phenotype Finding 2 0.100 None 0
CUI: C4024646
Disease: Aplasia/Hypoplasia of the fallopian tube
Aplasia/Hypoplasia of the fallopian tube 		phenotype Finding 2 0.100 None 0
CUI: C4021610
Disease: Bilateral lung agenesis
Bilateral lung agenesis 		disease Anatomical Abnormality 3 0.100 None 0
CUI: C4329692
Disease: Craniotubular Hyperostosis
Craniotubular Hyperostosis 		disease Musculoskeletal Diseases Disease or Syndrome 4 0.010 None 1.000 1 2017 2017
CUI: C1850041
Disease: Facial hirsutism
Facial hirsutism 		phenotype Finding 4 2 0.100 None 0
CUI: C1855335
Disease: Hypoplasia of the bladder
Hypoplasia of the bladder 		phenotype Finding 4 0.100 None 0
CUI: C1864584
Disease: Frontal balding
Frontal balding 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 4 0.100 None 0
CUI: C2675014
Disease: Mullerian Aplasia and Hyperandrogenism
Mullerian Aplasia and Hyperandrogenism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 5 3 0.710 None 1.000 4 3 2004 2019
CUI: C4072885
Disease: Increased serum testosterone level
Increased serum testosterone level 		phenotype Finding 5 1 0.100 None 0
CUI: C1860244
Disease: Malrotation of small bowel
Malrotation of small bowel 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Finding 7 0.100 None 0
CUI: C4021818
Disease: Abnormality of the ovary
Abnormality of the ovary 		disease Anatomical Abnormality 8 1 0.100 None 0
CUI: C4551490
Disease: Ovotestis
Ovotestis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 8 0.100 None 0
CUI: C0431637
Disease: Mullerian aplasia
Mullerian aplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 10 0.010 None < 0.001 1 2012 2012
CUI: C0425913
Disease: Uterus absent (finding)
Uterus absent (finding) 		phenotype Finding 10 1 0.100 None 0
CUI: C4021794
Disease: Abnormality of the adrenal glands
Abnormality of the adrenal glands 		disease Anatomical Abnormality 10 0.100 None 0
CUI: C1834124
Disease: Shield chest
Shield chest 		phenotype Finding 12 2 0.100 None 0
CUI: C1856023
Disease: Abnormal vagina morphology
Abnormal vagina morphology 		phenotype Finding 12 0.100 None 0
CUI: C4022995
Disease: Sex reversal
Sex reversal 		phenotype Finding 14 0.100 None 0
CUI: C0264511
Disease: Lymphoid interstitial pneumonia
Lymphoid interstitial pneumonia 		disease Respiratory Tract Diseases Disease or Syndrome 17 0.010 None 1.000 1 2020 2020
CUI: C1720887
Disease: Female Urogenital Diseases
Female Urogenital Diseases 		group Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 18 0.300 None 1.000 1 2005 2005
CUI: C0017411
Disease: Female Genital Diseases
Female Genital Diseases 		group Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 21 3 0.010 None 1.000 1 2018 2018