POLH, DNA polymerase eta, 5429

N. diseases: 27; N. variants: 0
Source: BEFREE ×
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.
CUI: C1848410
Disease: Xeroderma pigmentosum, variant type
Xeroderma pigmentosum, variant type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 3 0.940 definitive 1.000 4 1999 2018
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 132 23 0.600 None 1.000 30 1999 2019
CUI: C0085636
Disease: Photophobia
Photophobia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 31 2 0.110 None 1.000 1 2000 2000
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		disease Neoplasms Neoplastic Process 2325 197 0.110 None 1.000 1 2007 2007
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 475 38 0.100 None 1.000 10 2003 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10153 1571 0.070 None 1.000 7 2000 2020
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8577 1441 0.040 None 1.000 4 2001 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.040 None 1.000 4 2001 2018
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 48 8 0.030 None 1.000 3 1996 2015
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6241 355 0.030 None 1.000 3 2002 2018
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 287 7 0.020 None 1.000 2 2007 2018
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 426 25 0.020 None 1.000 2 2006 2007
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		disease Nutritional and Metabolic Diseases Disease or Syndrome 94 17 0.010 None 1.000 1 2017 2017
CUI: C1519346
Disease: Skin Carcinogenesis
Skin Carcinogenesis 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 194 7 0.010 None 1.000 1 2018 2018
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 78 12 0.010 None 1.000 1 2010 2010
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality 69 24 0.010 None 1.000 1 2015 2015
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 174 90 0.010 None 1.000 1 2019 2019
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 19 19 0.010 None 1.000 1 2015 2015
CUI: C0007097
Disease: Carcinoma
Carcinoma 		group Neoplasms Neoplastic Process 2375 90 0.010 None 1.000 1 2015 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5011 1186 0.010 None 1.000 1 2020 2020
CUI: C0019348
Disease: Herpes Simplex Infections
Herpes Simplex Infections 		group Infections; Skin and Connective Tissue Diseases Disease or Syndrome 624 11 0.010 None 1.000 1 2010 2010
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6345 327 0.010 None 1.000 1 2020 2020
CUI: C0043345
Disease: Xeroderma
Xeroderma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 4 1 0.010 None 1.000 1 2017 2017
CUI: C0085090
Disease: Lymphoma, AIDS-Related
Lymphoma, AIDS-Related 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 35 0.010 None 1.000 1 2006 2006
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 414 50 0.010 None 1.000 1 2017 2017