ZNF423, zinc finger protein 423, 23090

N. diseases: 97; N. variants: 16
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: C3539071
Disease: NEPHRONOPHTHISIS 14
NEPHRONOPHTHISIS 14 		disease Disease or Syndrome 1 1 0.710 None 1.000 2 1 2012 2016
CUI: C3553846
Disease: JOUBERT SYNDROME 19
JOUBERT SYNDROME 19 		disease Disease or Syndrome 1 0.300 None 1.000 1 2012 2012
CUI: C0431404
Disease: Cerebellar cortical dysplasia
Cerebellar cortical dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 2 0.010 None 1.000 1 2011 2011
CUI: C1260894
Disease: Hypertrophic obesity
Hypertrophic obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
CUI: C1855675
Disease: Arima syndrome
Arima syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 11 0.500 None 1.000 1 2012 2012
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 14 7 0.300 None 1.000 1 2012 2012
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		phenotype Finding 35 7 0.100 None 0
CUI: C0240896
Disease: Fundus coloboma
Fundus coloboma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 57 2 0.100 None 0
CUI: C3540764
Disease: Coloboma of the Retina
Coloboma of the Retina 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 58 3 0.100 None 0
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		phenotype Finding 60 0.100 None 0
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 61 2 0.100 None 0
CUI: C0007760
Disease: Cerebellar Diseases
Cerebellar Diseases 		group Nervous System Diseases Disease or Syndrome 66 4 0.200 None 0
CUI: C4025819
Disease: Abnormality of the hypothalamus-pituitary axis
Abnormality of the hypothalamus-pituitary axis 		disease Anatomical Abnormality 70 0.100 None 0
CUI: C0236807
Disease: Amphetamine Abuse
Amphetamine Abuse 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 75 0.300 None 1.000 1 2008 2008
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 75 1 0.100 None 0
CUI: C0236733
Disease: Amphetamine-Related Disorders
Amphetamine-Related Disorders 		group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 78 3 0.300 None 1.000 1 2008 2008
CUI: C0236804
Disease: Amphetamine Addiction
Amphetamine Addiction 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 81 2 0.300 None 1.000 1 2008 2008
CUI: C0231835
Disease: Tachypnea
Tachypnea 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 82 5 0.100 None 0
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 93 6 0.100 None 0
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases Disease or Syndrome 95 187 0.010 None 1.000 1 2016 2016
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 96 103 0.110 None 1.000 1 2016 2016
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		phenotype Finding 100 26 0.100 None 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype Anatomical Abnormality 104 131 0.100 None 0 2
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		phenotype Finding 108 8 0.100 None 0
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 137 9 0.200 None 1.000 1 2006 2006