Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5435
Gene Symbol: POLR2F
POLR2F 		RNA polymerase II subunit F 0.722 0.308 1.3E-02
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		disease 0.100 None 1.000 1 4 2018 2018
Entrez Id: 5435
Gene Symbol: POLR2F
POLR2F 		RNA polymerase II subunit F 0.722 0.308 1.3E-02
CUI: C0003126
Disease: Anosmia
Anosmia 		phenotype 0.100 None 0 1
Entrez Id: 5435
Gene Symbol: POLR2F
POLR2F 		RNA polymerase II subunit F 0.722 0.308 1.3E-02
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch 		phenotype 0.100 None 0 1
Entrez Id: 5435
Gene Symbol: POLR2F
POLR2F 		RNA polymerase II subunit F 0.722 0.308 1.3E-02
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		disease 0.100 None 0 2
Entrez Id: 5435
Gene Symbol: POLR2F
POLR2F 		RNA polymerase II subunit F 0.722 0.308 1.3E-02
CUI: C2700405
Disease: WAARDENBURG SYNDROME, TYPE IIE
WAARDENBURG SYNDROME, TYPE IIE 		disease 0.100 None 0 3
Entrez Id: 5435
Gene Symbol: POLR2F
POLR2F 		RNA polymerase II subunit F 0.722 0.308 1.3E-02
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		disease 0.100 None 0 22
Entrez Id: 5435
Gene Symbol: POLR2F
POLR2F 		RNA polymerase II subunit F 0.722 0.308 1.3E-02
CUI: C3888239
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 		disease 0.100 None 0 2
Entrez Id: 5435
Gene Symbol: POLR2F
POLR2F 		RNA polymerase II subunit F 0.722 0.308 1.3E-02
CUI: C4023373
Disease: Demyelinating sensory neuropathy
Demyelinating sensory neuropathy 		disease 0.100 None 0 1
Entrez Id: 5435
Gene Symbol: POLR2F
POLR2F 		RNA polymerase II subunit F 0.722 0.308 1.3E-02
CUI: C4023381
Disease: Morphological abnormality of the inner ear
Morphological abnormality of the inner ear 		phenotype 0.100 None 0 1
Entrez Id: 5435
Gene Symbol: POLR2F
POLR2F 		RNA polymerase II subunit F 0.722 0.308 1.3E-02
CUI: C1836727
Disease: Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 		disease 0.100 None 0 6
Entrez Id: 5435
Gene Symbol: POLR2F
POLR2F 		RNA polymerase II subunit F 0.722 0.308 1.3E-02
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.100 None 0 1
Entrez Id: 5435
Gene Symbol: POLR2F
POLR2F 		RNA polymerase II subunit F 0.722 0.308 1.3E-02
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.100 None 0 2
Entrez Id: 5435
Gene Symbol: POLR2F
POLR2F 		RNA polymerase II subunit F 0.722 0.308 1.3E-02
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		disease 0.100 None 0 1
Entrez Id: 5435
Gene Symbol: POLR2F
POLR2F 		RNA polymerase II subunit F 0.722 0.308 1.3E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 1
Entrez Id: 5435
Gene Symbol: POLR2F
POLR2F 		RNA polymerase II subunit F 0.722 0.308 1.3E-02
CUI: C0021364
Disease: Male infertility
Male infertility 		phenotype 0.100 None 0 1
Entrez Id: 5435
Gene Symbol: POLR2F
POLR2F 		RNA polymerase II subunit F 0.722 0.308 1.3E-02
CUI: C0025160
Disease: Megacolon
Megacolon 		phenotype 0.100 None 0 2
Entrez Id: 5435
Gene Symbol: POLR2F
POLR2F 		RNA polymerase II subunit F 0.722 0.308 1.3E-02
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		disease 0.100 None 0 1
Entrez Id: 5435
Gene Symbol: POLR2F
POLR2F 		RNA polymerase II subunit F 0.722 0.308 1.3E-02
CUI: C0401149
Disease: Chronic constipation
Chronic constipation 		phenotype 0.100 None 0 1
Entrez Id: 5435
Gene Symbol: POLR2F
POLR2F 		RNA polymerase II subunit F 0.722 0.308 1.3E-02
CUI: C0578626
Disease: blue iris (physical finding)
blue iris (physical finding) 		phenotype 0.100 None 0 1
Entrez Id: 5435
Gene Symbol: POLR2F
POLR2F 		RNA polymerase II subunit F 0.722 0.308 1.3E-02
CUI: C4477049
Disease: Hypoplasia of the olfactory bulb
Hypoplasia of the olfactory bulb 		disease 0.100 None 0 1