Source: ALL

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: 5429
Gene Symbol: POLH
POLH 		DNA polymerase eta 0.663 0.462 3.5E-09
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		disease 0.940 definitive 1.000 22 17 1999 2018
Entrez Id: 5429
Gene Symbol: POLH
POLH 		DNA polymerase eta 0.663 0.462 3.5E-09
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		disease 0.600 None 1.000 38 0 1999 2019
Entrez Id: 5429
Gene Symbol: POLH
POLH 		DNA polymerase eta 0.663 0.462 3.5E-09
CUI: C0432328
Disease: Xeroderma pigmentosum, variant form
Xeroderma pigmentosum, variant form 		disease 0.300 None 1.000 1 0 2014 2014
Entrez Id: 5429
Gene Symbol: POLH
POLH 		DNA polymerase eta 0.663 0.462 3.5E-09
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.300 None 0 1
Entrez Id: 5429
Gene Symbol: POLH
POLH 		DNA polymerase eta 0.663 0.462 3.5E-09
CUI: C0085636
Disease: Photophobia
Photophobia 		phenotype 0.110 None 1.000 1 0 2000 2000
Entrez Id: 5429
Gene Symbol: POLH
POLH 		DNA polymerase eta 0.663 0.462 3.5E-09
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		disease 0.110 None 1.000 1 0 2007 2007
Entrez Id: 5429
Gene Symbol: POLH
POLH 		DNA polymerase eta 0.663 0.462 3.5E-09
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		disease 0.100 None 1.000 10 0 2003 2019
Entrez Id: 5429
Gene Symbol: POLH
POLH 		DNA polymerase eta 0.663 0.462 3.5E-09
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		disease 0.100 None 0 0
Entrez Id: 5429
Gene Symbol: POLH
POLH 		DNA polymerase eta 0.663 0.462 3.5E-09
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		disease 0.100 None 0 0
Entrez Id: 5429
Gene Symbol: POLH
POLH 		DNA polymerase eta 0.663 0.462 3.5E-09
CUI: C1859923
Disease: Freckles in sun-exposed areas
Freckles in sun-exposed areas 		phenotype 0.100 None 0 0
Entrez Id: 5429
Gene Symbol: POLH
POLH 		DNA polymerase eta 0.663 0.462 3.5E-09
CUI: C0392777
Disease: Poikiloderma
Poikiloderma 		disease 0.100 None 0 0
Entrez Id: 5429
Gene Symbol: POLH
POLH 		DNA polymerase eta 0.663 0.462 3.5E-09
CUI: C0151514
Disease: Atrophic condition of skin
Atrophic condition of skin 		group 0.100 None 0 0
Entrez Id: 5429
Gene Symbol: POLH
POLH 		DNA polymerase eta 0.663 0.462 3.5E-09
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin 		phenotype 0.100 None 0 0
Entrez Id: 5429
Gene Symbol: POLH
POLH 		DNA polymerase eta 0.663 0.462 3.5E-09
CUI: C0151908
Disease: Dry skin
Dry skin 		phenotype 0.100 None 0 0
Entrez Id: 5429
Gene Symbol: POLH
POLH 		DNA polymerase eta 0.663 0.462 3.5E-09
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		disease 0.100 None 0 0
Entrez Id: 5429
Gene Symbol: POLH
POLH 		DNA polymerase eta 0.663 0.462 3.5E-09
CUI: C0039446
Disease: Telangiectasis
Telangiectasis 		disease 0.100 None 0 0
Entrez Id: 5429
Gene Symbol: POLH
POLH 		DNA polymerase eta 0.663 0.462 3.5E-09
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 5429
Gene Symbol: POLH
POLH 		DNA polymerase eta 0.663 0.462 3.5E-09
CUI: C0025202
Disease: melanoma
melanoma 		disease 0.100 None 0 0
Entrez Id: 5429
Gene Symbol: POLH
POLH 		DNA polymerase eta 0.663 0.462 3.5E-09
CUI: C0022568
Disease: Keratitis
Keratitis 		disease 0.100 None 0 0
Entrez Id: 5429
Gene Symbol: POLH
POLH 		DNA polymerase eta 0.663 0.462 3.5E-09
CUI: C0014390
Disease: Entropion
Entropion 		disease 0.100 None 0 0
Entrez Id: 5429
Gene Symbol: POLH
POLH 		DNA polymerase eta 0.663 0.462 3.5E-09
CUI: C0013592
Disease: Ectropion
Ectropion 		disease 0.100 None 0 0
Entrez Id: 5429
Gene Symbol: POLH
POLH 		DNA polymerase eta 0.663 0.462 3.5E-09
CUI: C0009763
Disease: Conjunctivitis
Conjunctivitis 		disease 0.100 None 0 0
Entrez Id: 5429
Gene Symbol: POLH
POLH 		DNA polymerase eta 0.663 0.462 3.5E-09
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group 0.070 None 1.000 7 0 2000 2020
Entrez Id: 5429
Gene Symbol: POLH
POLH 		DNA polymerase eta 0.663 0.462 3.5E-09
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group 0.040 None 1.000 4 0 2001 2018
Entrez Id: 5429
Gene Symbol: POLH
POLH 		DNA polymerase eta 0.663 0.462 3.5E-09
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group 0.040 None 1.000 4 0 2001 2018