WDR11, WD repeat domain 11, 55717

N. diseases: 179; 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: C3540450
Disease: HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA 		disease Disease or Syndrome 1 6 0.700 strong 1.000 3 6 2010 2018
CUI: C2364016
Disease: Systemic sclerosis [scleroderma]
Systemic sclerosis [scleroderma] 		disease Disease or Syndrome 11 0.010 None 1.000 1 1995 1995
CUI: C3267047
Disease: Autoimmune necrotizing myopathy
Autoimmune necrotizing myopathy 		disease Musculoskeletal Diseases; Immune System Diseases; Nervous System Diseases Disease or Syndrome 11 0.010 None 1.000 1 2015 2015
CUI: C0263504
Disease: Alopecia totalis
Alopecia totalis 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Endocrine System Diseases Disease or Syndrome 13 1 0.010 None 1.000 1 1995 1995
CUI: C4053775
Disease: Pituitary stalk interruption syndrome
Pituitary stalk interruption syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 16 5 0.310 None 1.000 2 2017 2017
CUI: C0342538
Disease: Constitutional delay of growth and puberty
Constitutional delay of growth and puberty 		disease Disease or Syndrome 16 7 0.010 None 1.000 1 2019 2019
CUI: C0476073
Disease: Papillary neoplasm
Papillary neoplasm 		disease Neoplasms Neoplastic Process 16 2 0.010 None < 0.001 1 1994 1994
CUI: C3279571
Disease: Ectopic posterior pituitary
Ectopic posterior pituitary 		phenotype Finding 16 2 0.100 None 0
CUI: C0748540
Disease: Scleroderma, Limited
Scleroderma, Limited 		disease Skin and Connective Tissue Diseases Disease or Syndrome 17 10 0.010 None 1.000 1 2005 2005
CUI: C4022675
Disease: Increased female libido
Increased female libido 		phenotype Finding 18 0.100 None 0
CUI: C4025901
Disease: Abnormality of body height
Abnormality of body height 		disease Finding 18 0.100 None 0
CUI: C0263505
Disease: Alopecia universalis
Alopecia universalis 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 19 2 0.010 None 1.000 1 1995 1995
CUI: C4025569
Disease: Eunuchoid habitus
Eunuchoid habitus 		phenotype Pathological Conditions, Signs and Symptoms Finding 21 0.100 None 0
CUI: C4025644
Disease: Hypothalamic gonadotropin-releasing hormone deficiency
Hypothalamic gonadotropin-releasing hormone deficiency 		phenotype Finding 22 0.100 None 0
CUI: C3899503
Disease: Congenital hypogonadotropic hypogonadism
Congenital hypogonadotropic hypogonadism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Disease or Syndrome 23 10 0.010 None 1.000 1 2018 2018
CUI: C1846223
Disease: Adrenal hypoplasia
Adrenal hypoplasia 		phenotype Finding 23 1 0.100 None 0
CUI: C1846228
Disease: Absence of pubertal development
Absence of pubertal development 		phenotype Finding 24 0.100 None 0
CUI: C4022003
Disease: Erectile abnormalities
Erectile abnormalities 		disease Finding 24 0.100 None 0
CUI: C0201544
Disease: Prostate specific antigen measurement
Prostate specific antigen measurement 		phenotype Laboratory Procedure 25 95 0.100 None 1.000 1 1 2018 2018
CUI: C0271578
Disease: Female hypogonadism syndrome
Female hypogonadism syndrome 		disease Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 25 0.100 None 0
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 35 19 0.100 None 0
CUI: C0559470
Disease: Allergy to peanuts
Allergy to peanuts 		phenotype Immune System Diseases Disease or Syndrome 36 5 0.010 None 1.000 1 2006 2006
CUI: C1384606
Disease: Dyspareunia
Dyspareunia 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Mental Disorders Finding 37 0.100 None 0
CUI: C0266013
Disease: Congenital hypoplasia of breast
Congenital hypoplasia of breast 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 38 0.100 None 0
CUI: C0454455
Disease: Mirror movements disorder
Mirror movements disorder 		disease Nervous System Diseases Disease or Syndrome 39 9 0.100 None 0