PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
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 0.994 155 3 1997 2020
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.100 None 1.000 41 2000 2019
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.100 None 0.938 16 1 2000 2019
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 14 5 2001 2015
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype Finding 103 93 0.100 None 1.000 14 3 2001 2015
CUI: C1739135
Disease: Progression of prostate cancer
Progression of prostate cancer
disease Neoplastic Process 398 7 0.100 None 1.000 11 1998 2018
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification
disease Disease or Syndrome 170 14 0.100 None 0.800 10 2010 2017
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
disease Neoplastic Process 573 14 0.090 None 1.000 9 2009 2020
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.180 None 1.000 8 19 2006 2019
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
disease Neoplastic Process 860 154 0.060 None 1.000 6 2003 2019
Metastatic castration-resistant prostate cancer
disease Neoplastic Process 140 2 0.060 None 1.000 6 2012 2019
CUI: C3642347
Disease: Basal-Like Breast Carcinoma
Basal-Like Breast Carcinoma
disease Neoplastic Process 245 9 0.050 None 1.000 5 1 2008 2016
CUI: C4523846
Disease: MSI-high
MSI-high
disease Neoplastic Process 83 9 0.050 None 1.000 5 2004 2017
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor
phenotype Neoplastic Process 735 33 0.040 None 1.000 4 1998 2016
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.040 None 1.000 4 2 1997 2018
CUI: C0272138
Disease: Erythroblastosis
Erythroblastosis
disease Disease or Syndrome 89 0.030 None 1.000 3 2014 2016
Metastasis from malignant tumor of prostate
disease Neoplastic Process 342 18 0.030 None 1.000 3 2005 2019
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
disease Neoplastic Process 83 11 0.030 None 1.000 3 2008 2014
CUI: C3544205
Disease: Ovarian clear cell carcinoma
Ovarian clear cell carcinoma
disease Neoplastic Process 103 0.030 None 1.000 3 2014 2019
CUI: C3714948
Disease: PACHYONYCHIA CONGENITA 3
PACHYONYCHIA CONGENITA 3
disease Disease or Syndrome 209 20 0.030 None 1.000 3 2002 2018
CUI: C3897752
Disease: Recurrent Childhood Glioblastoma
Recurrent Childhood Glioblastoma
disease Neoplastic Process 51 1 0.030 None 0.667 3 2008 2020
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.030 None 0.667 3 2015 2019
Stage IIA Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.030 None 0.667 3 2015 2019
Stage IIB Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.030 None 0.667 3 2015 2019
Stage III Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.030 None 0.667 3 2015 2019