POLH, DNA polymerase eta, 5429

N. diseases: 44; N. variants: 18
Source: ALL
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 4 17 0.940 definitive 1.000 22 17 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 137 35 0.600 None 1.000 38 1999 2019
CUI: C0432328
Disease: Xeroderma pigmentosum, variant form
Xeroderma pigmentosum, variant form
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality 1 0.300 None 1.000 1 2014 2014
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.300 None 0 1
CUI: C0085636
Disease: Photophobia
Photophobia
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 227 7 0.110 None 1.000 1 2000 2000
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
disease Neoplasms Neoplastic Process 2507 257 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 508 38 0.100 None 1.000 10 2003 2019
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 507 248 0.100 None 0
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
disease Neoplasms Neoplastic Process 557 91 0.100 None 0
CUI: C1859923
Disease: Freckles in sun-exposed areas
Freckles in sun-exposed areas
phenotype Finding 5 1 0.100 None 0
CUI: C0392777
Disease: Poikiloderma
Poikiloderma
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 20 2 0.100 None 0
CUI: C0151514
Disease: Atrophic condition of skin
Atrophic condition of skin
group Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 111 4 0.100 None 0
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin
phenotype Skin and Connective Tissue Diseases Pathologic Function 91 3 0.100 None 0
CUI: C0151908
Disease: Dry skin
Dry skin
phenotype Skin and Connective Tissue Diseases Sign or Symptom 159 12 0.100 None 0
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder
disease Skin and Connective Tissue Diseases Disease or Syndrome 126 15 0.100 None 0
CUI: C0039446
Disease: Telangiectasis
Telangiectasis
disease Cardiovascular Diseases Finding 43 0.100 None 0
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE
phenotype Finding 137 0.100 None 0
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 3087 515 0.100 None 0
CUI: C0022568
Disease: Keratitis
Keratitis
disease Eye Diseases Disease or Syndrome 156 10 0.100 None 0
CUI: C0014390
Disease: Entropion
Entropion
disease Eye Diseases Disease or Syndrome 18 1 0.100 None 0
CUI: C0013592
Disease: Ectropion
Ectropion
disease Eye Diseases Disease or Syndrome 50 3 0.100 None 0
CUI: C0009763
Disease: Conjunctivitis
Conjunctivitis
disease Eye Diseases Disease or Syndrome 82 1 0.100 None 0
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.070 None 1.000 7 2000 2020
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 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