POLR3A, RNA polymerase III subunit A, 11128

N. diseases: 219; N. variants: 47
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.
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Stomatognathic Diseases Disease or Syndrome 4 20 0.750 None 1.000 15 17 1977 2018
CUI: C0406586
Disease: Wiedemann-Rautenstrauch syndrome
Wiedemann-Rautenstrauch syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 3 23 0.720 strong 1.000 4 23 2016 2018
Leukodystrophy, Dysmyelinating, with Oligodontia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 1 0.300 None 1.000 1 2011 2011
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 190 27 0.200 None 0.875 16 1 2011 2019
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism
disease Endocrine System Diseases Disease or Syndrome 178 18 0.170 None 0.857 7 2011 2018
CUI: C0020608
Disease: Hypodontia
Hypodontia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 218 48 0.130 None 0.667 3 2014 2018
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.110 None 1.000 1 1 2017 2017
CUI: C4082304
Disease: Oligodontia
Oligodontia
disease Congenital Abnormality 62 34 0.110 None 1.000 1 2018 2018
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease Disease or Syndrome 321 67 0.110 None 1.000 1 2019 2019
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 385 49 0.110 None 1.000 1 2015 2015
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 3111 6892 0.100 None 1.000 1 7 2017 2017
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
phenotype Laboratory Procedure 283 679 0.100 None 1.000 1 1 2012 2012
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
High density lipoprotein measurement
phenotype Laboratory Procedure 545 1440 0.100 None 1.000 1 1 2012 2012
CUI: C1849364
Disease: Absent earlobe
Absent earlobe
phenotype Congenital Abnormality 14 1 0.100 None 0
CUI: C1843300
Disease: Sparse eyelashes
Sparse eyelashes
phenotype Finding 60 4 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 407 35 0.100 None 0
CUI: C1857657
Disease: Reduced subcutaneous adipose tissue
Reduced subcutaneous adipose tissue
phenotype Finding 21 1 0.100 None 0
CUI: C1856542
Disease: Prominent scalp veins
Prominent scalp veins
phenotype Finding 6 1 0.100 None 0
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair
phenotype Finding 85 7 0.100 None 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 77 12 0.100 None 0
CUI: C1857710
Disease: Progeroid facial appearance
Progeroid facial appearance
phenotype Finding 14 0.100 None 0
Increased subcutaneous truncal adipose tissue
phenotype Finding 1 0.100 None 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 211 411 0.100 None 0 1
CUI: C1843369
Disease: Vertical supranuclear gaze palsy
Vertical supranuclear gaze palsy
disease Disease or Syndrome 18 2 0.100 None 0