XRS, X-ray sensitivity, 8102

N. diseases: 19; N. variants: 0
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: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 384 698 0.040 None 0.750 4 1989 2014
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.020 None 1.000 2 1988 1994
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.020 None 1.000 2 1988 1994
CUI: C0751483
Disease: Familial Retinoblastoma
Familial Retinoblastoma
disease Neoplasms; Eye Diseases Neoplastic Process 12 4 0.010 None 1.000 1 1987 1987
CUI: C0751484
Disease: Sporadic Retinoblastoma
Sporadic Retinoblastoma
disease Neoplasms; Eye Diseases Neoplastic Process 7 0.010 None 1.000 1 1978 1978
CUI: C0949506
Disease: Porokeratosis of Mibelli
Porokeratosis of Mibelli
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 9 1 0.010 None 1.000 1 1993 1993
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 86 38 0.010 None 1.000 1 1997 1997
CUI: C1266184
Disease: Atypical Teratoid Rhabdoid Tumor
Atypical Teratoid Rhabdoid Tumor
disease Neoplasms Neoplastic Process 84 1 0.010 None 1.000 1 2018 2018
Familial Atypical Mole Melanoma Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 30 3 0.010 None 1.000 1 1999 1999
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.010 None 1.000 1 1988 1988
Porokeratosis, Disseminated Superficial Actinic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 13 1 0.010 None 1.000 1 1993 1993
CUI: C0162839
Disease: Porokeratosis
Porokeratosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 11 0.010 None 1.000 1 1993 1993
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
disease Neoplasms; Eye Diseases Neoplastic Process 853 193 0.010 None 1.000 1 1983 1983
CUI: C0013403
Disease: Dysplastic Nevus Syndrome
Dysplastic Nevus Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 15 0.010 None 1.000 1 1999 1999
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 508 38 0.010 None 1.000 1 1999 1999
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 2969 688 0.010 None 1.000 1 1988 1988
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 155 132 0.010 None 1.000 1 1980 1980
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Neoplastic Process 74 124 0.010 None < 0.001 1 1987 1987
CUI: C3828416
Disease: Radiation Damage
Radiation Damage
disease Wounds and Injuries Disease or Syndrome 44 0.010 None 1.000 1 1994 1994