CTNNB1, catenin beta 1, 1499

N. diseases: 1368; N. variants: 68
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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.100 None 0.989 366 1 1994 2020
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.100 None 0.990 210 3 1997 2020
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.100 None 1.000 30 1998 2019
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 22 4 1991 2017
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype Finding 103 93 0.100 None 1.000 22 1 1991 2017
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor
phenotype Neoplastic Process 735 33 0.100 None 1.000 10 2002 2019
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
disease Disease or Syndrome 593 24 0.080 None 1.000 8 2009 2017
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
disease Disease or Syndrome 1 21 0.700 strong 1.000 8 21 1989 2017
CUI: C3838965
Disease: Microcystic stromal tumor
Microcystic stromal tumor
disease Neoplastic Process 8 2 0.060 None 1.000 6 1 2011 2019
CUI: C0028259
Disease: Nodule
Nodule
phenotype Acquired Abnormality 278 19 0.050 None 1.000 5 2010 2018
CUI: C0334037
Disease: Intestinal metaplasia
Intestinal metaplasia
phenotype Disease or Syndrome 266 24 0.050 None 1.000 5 2003 2008
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction
phenotype Disease or Syndrome 716 25 0.050 None 1.000 5 2009 2019
CUI: C1969372
Disease: Tubulointerstitial fibrosis
Tubulointerstitial fibrosis
phenotype Disease or Syndrome 328 0.050 None 1.000 5 2013 2019
CUI: C0940937
Disease: precancerous lesions
precancerous lesions
phenotype Neoplastic Process 270 19 0.040 None 1.000 4 2001 2020
CUI: C4049272
Disease: Tumour budding
Tumour budding
disease Neoplastic Process 71 8 0.040 None 0.750 4 2001 2011
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.040 None 1.000 4 2013 2020
Stage IIA Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.040 None 1.000 4 2013 2020
Stage IIB Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.040 None 1.000 4 2013 2020
Stage III Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.040 None 1.000 4 2013 2020
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.040 None 1.000 4 2013 2020
CUI: C0280141
Disease: Acute Undifferentiated Leukemia
Acute Undifferentiated Leukemia
disease Neoplastic Process 119 1 0.030 None 1.000 3 2013 2018
CUI: C1320468
Disease: Nephrogenic rest
Nephrogenic rest
disease Anatomical Abnormality 15 0.030 None 1.000 3 2008 2015
CUI: C1378511
Disease: Undifferentiated leukemia
Undifferentiated leukemia
disease Neoplastic Process 120 2 0.030 None 1.000 3 2013 2018
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification
disease Disease or Syndrome 170 14 0.030 None 0.667 3 2005 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.030 None 1.000 3 2003 2017