CTNNA1, catenin alpha 1, 1495

N. diseases: 82; N. variants: 35
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: C1837029
Disease: Macular Dystrophy, Butterfly-Shaped Pigmentary, 2
Macular Dystrophy, Butterfly-Shaped Pigmentary, 2 		disease Eye Diseases Disease or Syndrome 3 4 0.800 None 1.000 1 4 2016 2016
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease Neoplasms Neoplastic Process 3111 6892 0.450 None 1.000 7 30 2007 2017
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		disease Digestive System Diseases; Neoplasms Neoplastic Process 312 119 0.340 None 0.833 6 2013 2019
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		group Hemic and Lymphatic Diseases Neoplastic Process 1033 95 0.330 None 1.000 4 2007 2014
CUI: C4511237
Disease: Butterfly-shaped pigmentary macular dystrophy
Butterfly-shaped pigmentary macular dystrophy 		disease Disease or Syndrome 7 0.320 None 1.000 2 2016 2017
CUI: C1879321
Disease: Acute Myeloid Leukemia (AML-M2)
Acute Myeloid Leukemia (AML-M2) 		disease Neoplasms Neoplastic Process 143 5 0.300 None 1.000 1 2007 2007
CUI: C2713368
Disease: Hematopoetic Myelodysplasia
Hematopoetic Myelodysplasia 		phenotype Hemic and Lymphatic Diseases Pathologic Function 38 0.300 None 1.000 1 2007 2007
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		group Digestive System Diseases; Neoplasms Neoplastic Process 538 154 0.300 None 1.000 1 2016 2016
CUI: C1868569
Disease: Patterned dystrophy of retinal pigment epithelium
Patterned dystrophy of retinal pigment epithelium 		disease Eye Diseases Disease or Syndrome 3 0.300 None 1.000 1 2016 2016
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 74 0.300 None 1.000 1 2016 2016
CUI: C0026998
Disease: Acute Myeloid Leukemia, M1
Acute Myeloid Leukemia, M1 		disease Neoplasms Neoplastic Process 138 0.300 None 1.000 1 2007 2007
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process 40 875 0.300 0
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process 24 179 0.300 0
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
Hereditary Non-Polyposis Colon Cancer Type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 23 154 0.300 0
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases Neoplastic Process 174 1331 0.300 0
CUI: C1112155
Disease: Hereditary non-polyposis colorectal cancer syndrome
Hereditary non-polyposis colorectal cancer syndrome 		disease Congenital Abnormality 31 0.300 0
CUI: C0153413
Disease: Malignant neoplasm of upper third of esophagus
Malignant neoplasm of upper third of esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5 0.200 None 1.000 1 1999 1999
CUI: C0153415
Disease: Malignant neoplasm of lower third of esophagus
Malignant neoplasm of lower third of esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5 0.200 None 1.000 1 1999 1999
CUI: C0153416
Disease: Malignant neoplasm of other specified part of esophagus
Malignant neoplasm of other specified part of esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5 0.200 None 1.000 1 1999 1999
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.200 None 1.000 1 2004 2004
CUI: C0153414
Disease: Malignant neoplasm of middle third of esophagus
Malignant neoplasm of middle third of esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5 0.200 None 1.000 1 1999 1999
CUI: C0496775
Disease: Malignant neoplasm of abdominal part of esophagus
Malignant neoplasm of abdominal part of esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5 0.200 None 1.000 1 1999 1999
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 1254 270 0.200 None 1.000 1 1999 1999
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.933 15 2002 2019
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 88 6387 0.100 None 0 1