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
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases Congenital Abnormality 137 13 0.400 strong 1.000 1 1996 1996
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 42 30 0.380 None 1.000 8 2011 2017
CUI: C0740858
Disease: Substance abuse problem
Substance abuse problem
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 185 20 0.300 None 1.000 1 2010 2010
CUI: C1510472
Disease: Drug Dependence
Drug Dependence
group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 248 31 0.300 None 1.000 1 2010 2010
CUI: C0038580
Disease: Substance Dependence
Substance Dependence
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 156 19 0.300 None 1.000 1 2010 2010
Organic Mental Disorders, Substance-Induced
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 115 0.300 None 1.000 1 2010 2010
CUI: C4316881
Disease: Prescription Drug Abuse
Prescription Drug Abuse
phenotype Chemically-Induced Disorders; Mental Disorders Finding 115 0.300 None 1.000 1 2010 2010
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms Neoplastic Process 2438 563 0.300 None 1.000 1 2016 2016
CUI: C0038586
Disease: Substance Use Disorders
Substance Use Disorders
group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 218 16 0.300 None 1.000 1 2010 2010
CUI: C0013222
Disease: Drug Use Disorders
Drug Use Disorders
group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 121 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
CUI: C0236969
Disease: Substance-Related Disorders
Substance-Related Disorders
group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 128 20 0.300 None 1.000 1 2010 2010
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: C0596887
Disease: mathematical ability
mathematical ability
phenotype Mental Process 854 2127 0.100 None 1.000 1 1 2018 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 3111 6892 0.100 None 1.000 1 14 2017 2017
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 186 65 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: C0266061
Disease: Open Bite
Open Bite
phenotype Stomatognathic Diseases Congenital Abnormality 38 0.100 None 0
CUI: C0431659
Disease: Hypoplasia of scrotum
Hypoplasia of scrotum
phenotype Congenital Abnormality 57 3 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: 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: 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: 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