POLR2F, RNA polymerase II subunit F, 5435

N. diseases: 30; N. variants: 47
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.
Morphological abnormality of the inner ear
phenotype Anatomical Abnormality 2 1 0.100 None 0 1
CUI: C4477049
Disease: Hypoplasia of the olfactory bulb
Hypoplasia of the olfactory bulb
disease Congenital Abnormality 5 1 0.100 None 0 1
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 7 26 0.100 None 1.000 1 4 2018 2018
Sensorineural Hearing Loss (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.100 None 0 2
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 384 162 0.100 None 0 2
CUI: C0021364
Disease: Male infertility
Male infertility
phenotype Male Urogenital Diseases Disease or Syndrome 516 146 0.100 None 0 1
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 95 14 0.100 None 0 1
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0 2
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases Disease or Syndrome 3 7 0.100 None 0 7
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 12 11 0.100 None 0 3
CUI: C2700405
Disease: WAARDENBURG SYNDROME, TYPE IIE
WAARDENBURG SYNDROME, TYPE IIE
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 3 5 0.100 None 0 5
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 2 22 0.100 None 0 22
CUI: C4023373
Disease: Demyelinating sensory neuropathy
Demyelinating sensory neuropathy
disease Disease or Syndrome 2 1 0.100 None 0 1
CUI: C0003126
Disease: Anosmia
Anosmia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 40 4 0.100 None 0 1
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 590 77 0.100 None 0 1
CUI: C0578626
Disease: blue iris (physical finding)
blue iris (physical finding)
phenotype Finding 28 2 0.100 None 0 1
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch
phenotype Skin and Connective Tissue Diseases Finding 123 2 0.100 None 0 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
disease Finding 12 52 0.100 None 0 2
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.010 None 1.000 1 2008 2008
CUI: C0007097
Disease: Carcinoma
Carcinoma
group Neoplasms Neoplastic Process 2462 103 0.010 None 1.000 1 2008 2008
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.010 None 1.000 1 2008 2008
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.010 None 1.000 1 2008 2008
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease Neoplasms Neoplastic Process 3177 281 0.010 None 1.000 1 2020 2020
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2008 2008
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2008 2008