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: C4024202
Disease: Reduced number of teeth
Reduced number of teeth
phenotype Finding 67 11 0.100 None 0
CUI: C0584837
Disease: Choanal stenosis
Choanal stenosis
phenotype Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Finding 14 2 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: C0546968
Disease: Fistula of branchial cleft
Fistula of branchial cleft
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 8 0.100 None 0
CUI: C0521573
Disease: Coloboma of eyelid
Coloboma of eyelid
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 28 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: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 186 65 0.100 None 0
CUI: C0267048
Disease: Glossoptosis
Glossoptosis
disease Stomatognathic Diseases Disease or Syndrome 25 1 0.100 None 0
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 148 1 0.100 None 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 0.100 None 0
CUI: C0266061
Disease: Open Bite
Open Bite
phenotype Stomatognathic Diseases Congenital Abnormality 38 0.100 None 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 497 70 0.100 None 0
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla
disease Congenital Abnormality 113 5 0.100 None 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Anatomical Abnormality 153 12 0.100 None 0
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 20 0.100 None 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 321 22 0.100 None 0
CUI: C0685787
Disease: Cleft face
Cleft face
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 23 0.100 None 0
CUI: C0685891
Disease: Congenital hypoplasia of thymus
Congenital hypoplasia of thymus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 34 0.100 None 0
CUI: C0973461
Disease: Dysphasia
Dysphasia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 63 4 0.100 None 0
CUI: C4023457
Disease: Short face
Short face
phenotype Anatomical Abnormality 6 0.100 None 0
CUI: C4023383
Disease: Narrow internal auditory canal
Narrow internal auditory canal
phenotype Finding 14 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: C4021794
Disease: Abnormality of the adrenal glands
Abnormality of the adrenal glands
disease Anatomical Abnormality 10 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: C4021657
Disease: Abnormality of bone mineral density
Abnormality of bone mineral density
disease Anatomical Abnormality 22 1 0.100 None 0