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, 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
Increased subcutaneous truncal adipose tissue
phenotype Finding 1 0.100 None 0
CUI: C1861693
Disease: Cervical Vertebral Dysplasia
Cervical Vertebral Dysplasia
disease Musculoskeletal Diseases Disease or Syndrome 1 0.100 None 0
CUI: C4025617
Disease: Atlantoaxial abnormality
Atlantoaxial abnormality
phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C1295643
Disease: Increased estradiol level
Increased estradiol level
phenotype Finding 2 0.100 None 0
CUI: C1868554
Disease: Irregular sclerotic endplates
Irregular sclerotic endplates
phenotype Finding 2 0.100 None 0
Congenital malformation of the left heart
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 2 0.100 None 0
CUI: C4476792
Disease: High myoinositol in brain by MRS
High myoinositol in brain by MRS
phenotype Finding 2 0.100 None 0
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
CUI: C1269700
Disease: Caliectasis
Caliectasis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 3 0.100 None 0
CUI: C1859449
Disease: Thin long bone diaphyses
Thin long bone diaphyses
phenotype Finding 3 0.100 None 0
CUI: C1866206
Disease: Dysplastic pulmonary valve
Dysplastic pulmonary valve
phenotype Finding 3 3 0.100 None 0
CUI: C2677109
Disease: Leukodystrophy, Hypomyelinating, 4
Leukodystrophy, Hypomyelinating, 4
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 3 2 0.100 None 0 1
CUI: C4020718
Disease: Wide nasal ridge
Wide nasal ridge
phenotype Finding 3 0.100 None 0
CUI: C4022551
Disease: Wide penis
Wide penis
disease Anatomical Abnormality 3 0.100 None 0
CUI: C4022680
Disease: Lagopthalmos
Lagopthalmos
disease Disease or Syndrome 3 1 0.100 None 0
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
Abnormality of ocular smooth pursuit
phenotype Finding 5 0.100 None 0
CUI: C4023607
Disease: Abnormal corpus striatum morphology
Abnormal corpus striatum morphology
phenotype Anatomical Abnormality 5 0.100 None 0
CUI: C4025212
Disease: Autonomic bladder dysfunction
Autonomic bladder dysfunction
disease Nervous System Diseases Disease or Syndrome 5 1 0.100 None 0
CUI: C4072885
Disease: Increased serum testosterone level
Increased serum testosterone level
phenotype Finding 5 1 0.100 None 0
CUI: C1837767
Disease: Loss of facial adipose tissue
Loss of facial adipose tissue
phenotype Finding 6 0.100 None 0
CUI: C1856542
Disease: Prominent scalp veins
Prominent scalp veins
phenotype Finding 6 1 0.100 None 0
CUI: C1857126
Disease: Parietal bossing
Parietal bossing
phenotype Finding 7 1 0.100 None 0
CUI: C4021585
Disease: Impaired distal proprioception
Impaired distal proprioception
phenotype Finding 7 1 0.100 None 0