DCAF17, DDB1 and CUL4 associated factor 17, 80067

N. diseases: 59; N. variants: 12
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: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		group Nervous System Diseases Disease or Syndrome 167 37 0.010 None < 0.001 1 2010 2010
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 69 2 0.010 None 1.000 1 2014 2014
CUI: C4721530
Disease: Congenital hypotrichia
Congenital hypotrichia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 19 4 0.010 None 1.000 1 2014 2014
CUI: C0796074
Disease: MOHR-TRANEBJAERG SYNDROME
MOHR-TRANEBJAERG SYNDROME 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 89 19 0.010 None 1.000 1 2013 2013
CUI: C0239337
Disease: Deformity of limb
Deformity of limb 		group Anatomical Abnormality 37 3 0.010 None 1.000 1 2014 2014
CUI: C4020789
Disease: Abnormal sperm development
Abnormal sperm development 		disease Anatomical Abnormality 1 0.010 None < 0.001 1 2018 2018
CUI: C0341869
Disease: Subfertility, Female
Subfertility, Female 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 33 1 0.010 None 1.000 1 2018 2018
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 505 98 0.010 None 1.000 1 2014 2014
CUI: C2931845
Disease: Neurodegeneration with brain iron accumulation (NBIA)
Neurodegeneration with brain iron accumulation (NBIA) 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 40 2 0.020 None 1.000 2 2011 2016
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 8 13 0.030 None 0.667 3 2010 2014
CUI: C0406587
Disease: Wrinkly skin syndrome
Wrinkly skin syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 3 1 0.030 None 0.667 3 2010 2014
CUI: C0021364
Disease: Male infertility
Male infertility 		phenotype Male Urogenital Diseases Disease or Syndrome 516 146 0.030 None 0.667 3 2018 2018
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 1.000 1 1 2016 2016
CUI: C1839341
Disease: Abnormal T-wave
Abnormal T-wave 		phenotype Finding 20 0.100 None 0
CUI: C4073137
Disease: Decreased serum testosterone level
Decreased serum testosterone level 		phenotype Finding 47 0.100 None 0
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 41 15 0.100 None 0
CUI: C4072897
Disease: Decreased serum insulin-like growth factor 1
Decreased serum insulin-like growth factor 1 		phenotype Finding 9 3 0.100 None 0
CUI: C0423867
Disease: Fine hair
Fine hair 		phenotype Finding 69 1 0.100 None 0
CUI: C0426415
Disease: Large nose
Large nose 		phenotype Finding 70 7 0.100 None 0
CUI: C4021956
Disease: Aplasia/Hypoplasia of the eyebrow
Aplasia/Hypoplasia of the eyebrow 		phenotype Finding 52 0.100 None 0
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 117 30 0.100 None 0
CUI: C0520933
Disease: Abnormal spermatogenesis
Abnormal spermatogenesis 		phenotype Male Urogenital Diseases Finding 5 0.100 None 0
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		disease Disease or Syndrome 168 27 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype Finding 295 14 0.100 None 0
CUI: C0586553
Disease: Raised TSH level
Raised TSH level 		phenotype Endocrine System Diseases Finding 13 0.100 None 0