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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.300 GeneticVariation disease UNIPROT
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		0.100 GeneticVariation disease CLINVAR Waardenburg syndrome: Novel mutations in a large Brazilian sample. 29407415 2018
CUI: C0003126
Disease: Anosmia
Anosmia 		0.100 CausalMutation phenotype CLINVAR
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 CausalMutation disease CLINVAR
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.100 GeneticVariation disease CLINVAR
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation phenotype CLINVAR
CUI: C0021364
Disease: Male infertility
Male infertility 		0.100 CausalMutation phenotype CLINVAR
CUI: C0025160
Disease: Megacolon
Megacolon 		0.100 CausalMutation phenotype CLINVAR
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		0.100 CausalMutation disease CLINVAR
CUI: C0401149
Disease: Chronic constipation
Chronic constipation 		0.100 CausalMutation phenotype CLINVAR
CUI: C0578626
Disease: blue iris (physical finding)
blue iris (physical finding) 		0.100 CausalMutation phenotype CLINVAR
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 CausalMutation phenotype 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: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch 		0.100 CausalMutation phenotype CLINVAR
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		0.100 CausalMutation disease CLINVAR
CUI: C2700405
Disease: WAARDENBURG SYNDROME, TYPE IIE
WAARDENBURG SYNDROME, TYPE IIE 		0.100 CausalMutation disease CLINVAR
CUI: C2700405
Disease: WAARDENBURG SYNDROME, TYPE IIE
WAARDENBURG SYNDROME, TYPE IIE 		0.100 GeneticVariation disease CLINVAR
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.100 GeneticVariation disease CLINVAR
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.100 CausalMutation disease CLINVAR
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		0.100 GeneticVariation disease CLINVAR
CUI: C4023373
Disease: Demyelinating sensory neuropathy
Demyelinating sensory neuropathy 		0.100 CausalMutation disease CLINVAR
CUI: C4023381
Disease: Morphological abnormality of the inner ear
Morphological abnormality of the inner ear 		0.100 CausalMutation phenotype CLINVAR
CUI: C4477049
Disease: Hypoplasia of the olfactory bulb
Hypoplasia of the olfactory bulb 		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