Source: INFERRED

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A 		RNA polymerase III subunit A 0.538 0.769 1.3E-23
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		disease 0.200 None 0.875 0 0 2011 2019
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A 		RNA polymerase III subunit A 0.538 0.769 1.3E-23
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		disease 0.170 None 0.857 0 0 2011 2018
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A 		RNA polymerase III subunit A 0.538 0.769 1.3E-23
CUI: C0020608
Disease: Hypodontia
Hypodontia 		disease 0.130 None 0.667 0 0 2014 2018
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A 		RNA polymerase III subunit A 0.538 0.769 1.3E-23
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A 		RNA polymerase III subunit A 0.538 0.769 1.3E-23
CUI: C4082304
Disease: Oligodontia
Oligodontia 		disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A 		RNA polymerase III subunit A 0.538 0.769 1.3E-23
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A 		RNA polymerase III subunit A 0.538 0.769 1.3E-23
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype 0.110 None 1.000 0 1 2017 2017
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A 		RNA polymerase III subunit A 0.538 0.769 1.3E-23
CUI: C1857657
Disease: Reduced subcutaneous adipose tissue
Reduced subcutaneous adipose tissue 		phenotype 0.100 None 0 0
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A 		RNA polymerase III subunit A 0.538 0.769 1.3E-23
CUI: C1844505
Disease: Pointed chin
Pointed chin 		phenotype 0.100 None 0 0
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A 		RNA polymerase III subunit A 0.538 0.769 1.3E-23
CUI: C1858085
Disease: Malar flattening
Malar flattening 		disease 0.100 None 0 0
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A 		RNA polymerase III subunit A 0.538 0.769 1.3E-23
CUI: C1858091
Disease: Long fingers
Long fingers 		phenotype 0.100 None 0 0
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A 		RNA polymerase III subunit A 0.538 0.769 1.3E-23
CUI: C1843369
Disease: Vertical supranuclear gaze palsy
Vertical supranuclear gaze palsy 		disease 0.100 None 0 0
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A 		RNA polymerase III subunit A 0.538 0.769 1.3E-23
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype 0.100 None 0 1
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A 		RNA polymerase III subunit A 0.538 0.769 1.3E-23
CUI: C1843300
Disease: Sparse eyelashes
Sparse eyelashes 		phenotype 0.100 None 0 0
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A 		RNA polymerase III subunit A 0.538 0.769 1.3E-23
CUI: C1837761
Disease: Narrow nasal ridge
Narrow nasal ridge 		phenotype 0.100 None 0 0
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A 		RNA polymerase III subunit A 0.538 0.769 1.3E-23
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype 0.100 None 0 0
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A 		RNA polymerase III subunit A 0.538 0.769 1.3E-23
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		phenotype 0.100 None 0 0
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A 		RNA polymerase III subunit A 0.538 0.769 1.3E-23
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		disease 0.100 None 0 0
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A 		RNA polymerase III subunit A 0.538 0.769 1.3E-23
CUI: C1849089
Disease: Broad forehead
Broad forehead 		phenotype 0.100 None 0 0
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A 		RNA polymerase III subunit A 0.538 0.769 1.3E-23
CUI: C1857126
Disease: Parietal bossing
Parietal bossing 		phenotype 0.100 None 0 0
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A 		RNA polymerase III subunit A 0.538 0.769 1.3E-23
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		phenotype 0.100 None 0 0
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A 		RNA polymerase III subunit A 0.538 0.769 1.3E-23
CUI: C1856542
Disease: Prominent scalp veins
Prominent scalp veins 		phenotype 0.100 None 0 0
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A 		RNA polymerase III subunit A 0.538 0.769 1.3E-23
CUI: C1855843
Disease: Severe intrauterine growth retardation
Severe intrauterine growth retardation 		phenotype 0.100 None 0 0
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A 		RNA polymerase III subunit A 0.538 0.769 1.3E-23
CUI: C1853193
Disease: Recurrent skin infections
Recurrent skin infections 		phenotype 0.100 None 0 0
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A 		RNA polymerase III subunit A 0.538 0.769 1.3E-23
CUI: C1850573
Disease: Slender build
Slender build 		phenotype 0.100 None 0 0