ZNF592, zinc finger protein 592, 9640

N. diseases: 31; N. variants: 0
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: C0852975
Disease: Congenital cerebellar ataxia
Congenital cerebellar ataxia
disease Disease or Syndrome 8 2 0.010 None 1.000 1 2010 2010
CUI: C4699189
Disease: Nonprogressive/congenital
Nonprogressive/congenital
disease Congenital Abnormality 3 0.010 None 1.000 1 2010 2010
Progressive extrapyramidal movement disorder
phenotype Finding 9 0.100 None 0
Aplasia/Hypoplasia of the cerebellum
phenotype Finding 116 5 0.100 None 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE
phenotype Finding 477 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
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 0.610 limited 1.000 2 2010 2015
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 106 16 0.110 None 1.000 1 2010 2010
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 568 51 0.100 None 0
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 384 45 0.100 None 0
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 615 42 0.100 None 0
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
disease Infections Disease or Syndrome 1256 328 0.010 None 1.000 1 2018 2018
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.300 None 1.000 1 2019 2019
CUI: C0005587
Disease: Depression, Bipolar
Depression, Bipolar
disease Mental Disorders Mental or Behavioral Dysfunction 116 2 0.300 None 1.000 1 2019 2019
CUI: C0024713
Disease: Manic Disorder
Manic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 76 0.300 None 1.000 1 2019 2019
CUI: C0338831
Disease: Manic
Manic
disease Mental Disorders Mental or Behavioral Dysfunction 166 8 0.300 None 1.000 1 2019 2019
CUI: C1854301
Disease: Motor delay
Motor delay
phenotype Mental Disorders Finding 384 34 0.100 None 0
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.010 None 1.000 1 2017 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2017 2017
CUI: C4551584
Disease: Brain atrophy
Brain atrophy
disease Nervous System Diseases Disease or Syndrome 182 46 0.100 None 0
CUI: C0795949
Disease: Galloway Mowat syndrome
Galloway Mowat syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 15 1 0.010 None 1.000 1 2010 2010
CUI: C4551772
Disease: GALLOWAY-MOWAT SYNDROME 1
GALLOWAY-MOWAT SYNDROME 1
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 3 11 0.300 limited 0
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 2010 2010
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 580 48 0.100 None 0
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.100 None 0