ATM, ATM serine/threonine kinase, 472

N. diseases: 684; N. variants: 974
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: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 543 432 0.600 None 0 7
Neoplasm of uncertain or unknown behavior of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 17 0.300 None 0
Neoplasm of uncertain or unknown behavior of bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 15 0.300 None 0
CUI: C0153943
Disease: Benign neoplasm of stomach
Benign neoplasm of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 17 0.300 None 0
CUI: C0154017
Disease: Benign neoplasm of bladder
Benign neoplasm of bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 15 0.300 None 0
CUI: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 545 0.300 None 0
CUI: C0154060
Disease: Carcinoma in situ of stomach
Carcinoma in situ of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 19 0.300 None 0
CUI: C0154091
Disease: Carcinoma in situ of bladder
Carcinoma in situ of bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 16 0.300 None 0
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 527 0.300 None 0
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease Nervous System Diseases Disease or Syndrome 104 4 0.300 None 0
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 453 235 0.300 None 0
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 342 108 0.300 None 0
Abnormality of the gastrointestinal tract
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 14 1 0.100 None 0
CUI: C4024276
Disease: Peripheral Schwannoma
Peripheral Schwannoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4 2 0.100 None 0 1
ATAXIA-TELANGIECTASIA WITHOUT IMMUNODEFICIENCY
disease Finding 2 2 0.100 None 0 2
CUI: C0349604
Disease: Intracranial Meningioma
Intracranial Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 38 3 0.100 None 0 1
Decreased proportion of CD4-positive T cells
phenotype Immune System Diseases; Hemic and Lymphatic Diseases Finding 19 0.100 None 0
Abnormality of bone marrow cell morphology
disease Anatomical Abnormality 15 0.100 None 0
CUI: C4022018
Disease: Telangiectasia of the skin
Telangiectasia of the skin
phenotype Cardiovascular Diseases Finding 56 3 0.100 None 0
CUI: C4023796
Disease: Aplasia/Hypoplasia of the thymus
Aplasia/Hypoplasia of the thymus
disease Anatomical Abnormality 6 0.100 None 0
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.100 None 0
CUI: C4022020
Disease: Mucosal telangiectasiae
Mucosal telangiectasiae
disease Cardiovascular Diseases Anatomical Abnormality 16 0.100 None 0
CUI: C0029440
Disease: Osteoma
Osteoma
disease Neoplasms Neoplastic Process 6 1 0.100 None 0 1
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 596 81 0.100 None 0
CUI: C4024737
Disease: Aplasia/Hypoplasia of the skin
Aplasia/Hypoplasia of the skin
phenotype Finding 29 0.100 None 0