POLR1D, RNA polymerase I and III subunit D, 51082

N. diseases: 84; N. variants: 18
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: C3150983
Disease: TREACHER COLLINS SYNDROME 2
TREACHER COLLINS SYNDROME 2
disease Disease or Syndrome 1 3 0.700 None 1.000 2 3 1996 2011
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.020 None 1.000 2 2019 2020
CUI: C0596887
Disease: mathematical ability
mathematical ability
phenotype Mental Process 854 2127 0.100 None 1.000 1 1 2018 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2020 2020
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system
disease Anatomical Abnormality 148 18 0.010 None 1.000 1 2016 2016
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla
disease Congenital Abnormality 113 5 0.100 None 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
phenotype Finding 391 49 0.100 None 0
CUI: C0431659
Disease: Hypoplasia of scrotum
Hypoplasia of scrotum
phenotype Congenital Abnormality 57 3 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline
phenotype Finding 71 17 0.100 None 0
CUI: C1843005
Disease: Absent eyelashes
Absent eyelashes
phenotype Congenital Abnormality 21 1 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
phenotype Finding 429 29 0.100 None 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion
phenotype Finding 228 0.100 None 0
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease Anatomical Abnormality 190 12 0.100 None 0
CUI: C1860816
Disease: Preauricular skin tag
Preauricular skin tag
phenotype Finding 53 4 0.100 None 0
CUI: C4021242
Disease: Hypoplasia of the zygomatic bone
Hypoplasia of the zygomatic bone
disease Anatomical Abnormality 29 0.100 None 0
CUI: C4021657
Disease: Abnormality of bone mineral density
Abnormality of bone mineral density
disease Anatomical Abnormality 22 1 0.100 None 0
CUI: C4021789
Disease: Abnormality of the vertebral column
Abnormality of the vertebral column
phenotype Anatomical Abnormality 24 5 0.100 None 0
CUI: C4021794
Disease: Abnormality of the adrenal glands
Abnormality of the adrenal glands
disease Anatomical Abnormality 10 0.100 None 0
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel
group Anatomical Abnormality 96 4 0.100 None 0
CUI: C4023383
Disease: Narrow internal auditory canal
Narrow internal auditory canal
phenotype Finding 14 0.100 None 0
CUI: C4023457
Disease: Short face
Short face
phenotype Anatomical Abnormality 6 0.100 None 0
CUI: C4024202
Disease: Reduced number of teeth
Reduced number of teeth
phenotype Finding 67 11 0.100 None 0
CUI: C0013146
Disease: Drug abuse
Drug abuse
group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 405 39 0.300 None 1.000 1 2010 2010
CUI: C0013170
Disease: Drug habituation
Drug habituation
phenotype Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 196 19 0.300 None 1.000 1 2010 2010