POLR2F, RNA polymerase II subunit F, 5435

N. diseases: 30; N. variants: 47
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003126
Disease: Anosmia
Anosmia 		0.100 CausalMutation phenotype CLINVAR
CUI: C0578626
Disease: blue iris (physical finding)
blue iris (physical finding) 		0.100 CausalMutation phenotype CLINVAR
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 Biomarker phenotype BEFREE DNA-directed RNA polymerase II subunit F (POLR2F), a subunit of the V0 domain of the vacuolar ATPase (ATP6V0A1) and the prion protein (PRNP) are molecules of potential importance in carcinogenesis and targeted cancer therapy. 18505059 2008
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.010 AlteredExpression group BEFREE POLR2F and PRNP exhibited elevated levels in carcinomas compared to normal tissue samples suggesting a possible role for these molecules in colorectal cancer. 18505059 2008
CUI: C0401149
Disease: Chronic constipation
Chronic constipation 		0.100 CausalMutation phenotype CLINVAR
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 AlteredExpression disease BEFREE POLR2F and PRNP exhibited elevated levels in carcinomas compared to normal tissue samples suggesting a possible role for these molecules in colorectal cancer. 18505059 2008
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.010 AlteredExpression group LHGDN POLR2F, ATP6V0A1 and PRNP expression in colorectal cancer: new molecules with prognostic significance? 18505059 2008
CUI: C4023373
Disease: Demyelinating sensory neuropathy
Demyelinating sensory neuropathy 		0.100 CausalMutation disease CLINVAR
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 AlteredExpression disease BEFREE The expression of DECR1 and POLR2F was significantly lower, while the levels of HDAC1 and PDIA3 were highly expressed in GBM tissues. 31633244 2020
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 AlteredExpression disease BEFREE The expression of DECR1 and POLR2F was significantly lower, while the levels of HDAC1 and PDIA3 were highly expressed in GBM tissues. 31633244 2020
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 CausalMutation phenotype CLINVAR
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.100 GeneticVariation disease CLINVAR
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.100 GeneticVariation disease CLINVAR
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch 		0.100 CausalMutation phenotype CLINVAR
CUI: C4477049
Disease: Hypoplasia of the olfactory bulb
Hypoplasia of the olfactory bulb 		0.100 CausalMutation disease CLINVAR
CUI: C0021364
Disease: Male infertility
Male infertility 		0.100 CausalMutation phenotype CLINVAR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.300 GeneticVariation disease UNIPROT
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 AlteredExpression disease BEFREE POLR2F and PRNP exhibited elevated levels in carcinomas compared to normal tissue samples suggesting a possible role for these molecules in colorectal cancer. 18505059 2008
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 Biomarker group BEFREE DNA-directed RNA polymerase II subunit F (POLR2F), a subunit of the V0 domain of the vacuolar ATPase (ATP6V0A1) and the prion protein (PRNP) are molecules of potential importance in carcinogenesis and targeted cancer therapy. 18505059 2008
CUI: C0025160
Disease: Megacolon
Megacolon 		0.100 CausalMutation phenotype CLINVAR
CUI: C4023381
Disease: Morphological abnormality of the inner ear
Morphological abnormality of the inner ear 		0.100 CausalMutation phenotype CLINVAR
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation phenotype CLINVAR
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		0.100 CausalMutation disease CLINVAR
CUI: C1836727
Disease: Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 		0.100 CausalMutation disease CLINVAR
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 Biomarker group BEFREE DNA-directed RNA polymerase II subunit F (POLR2F), a subunit of the V0 domain of the vacuolar ATPase (ATP6V0A1) and the prion protein (PRNP) are molecules of potential importance in carcinogenesis and targeted cancer therapy. 18505059 2008