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: 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
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A 		RNA polymerase III subunit A 0.538 0.769 1.3E-23
CUI: C1849364
Disease: Absent earlobe
Absent earlobe 		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: C1849300
Disease: Widely patent fontanelles and sutures
Widely patent fontanelles and sutures 		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: C1849134
Disease: Impaired vibration sensation in the lower limbs
Impaired vibration sensation in the lower limbs 		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: 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: 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: C1837781
Disease: Increased subcutaneous truncal adipose tissue
Increased subcutaneous truncal 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: C1295643
Disease: Increased estradiol level
Increased estradiol level 		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: C1280433
Disease: Lipoatrophy
Lipoatrophy 		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: C1269700
Disease: Caliectasis
Caliectasis 		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: C0948896
Disease: Primary hypogonadism
Primary hypogonadism 		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: C0848558
Disease: Hypospadias
Hypospadias 		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: C0750929
Disease: Arnold-Chiari Malformation, Type I
Arnold-Chiari Malformation, Type I 		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: C0747085
Disease: Recurrent otitis media
Recurrent otitis media 		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: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		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: C1298695
Disease: Hypoplasia of optic disc
Hypoplasia of optic disc 		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: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		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: C1384666
Disease: hearing impairment
hearing impairment 		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: C1837767
Disease: Loss of facial adipose tissue
Loss of facial 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: 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: C1836830
Disease: Developmental regression
Developmental regression 		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: C1836646
Disease: Dermal translucency
Dermal translucency 		phenotype 0.100 None 0 0