SOX2, SRY-box transcription factor 2, 6657

N. diseases: 503; N. variants: 23
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 0.983 58 2006 2020
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.100 None 0.900 10 2012 2020
CUI: C0334037
Disease: Intestinal metaplasia
Intestinal metaplasia 		phenotype Disease or Syndrome 266 24 0.070 None 1.000 7 2003 2019
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		phenotype Neoplastic Process 1027 20 0.040 None 1.000 4 2013 2019
CUI: C2938924
Disease: Oestrogen receptor positive breast cancer
Oestrogen receptor positive breast cancer 		disease Neoplastic Process 510 58 0.030 None 1.000 3 2016 2019
CUI: C4552011
Disease: Gonadotropin deficiency
Gonadotropin deficiency 		disease Disease or Syndrome 26 0.030 None 1.000 3 2012 2019
CUI: C0374997
Disease: Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site 		disease Disease or Syndrome 593 24 0.020 None 1.000 2 2011 2012
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		phenotype Neoplastic Process 735 33 0.020 None 1.000 2 2017 2018
CUI: C0940937
Disease: precancerous lesions
precancerous lesions 		phenotype Neoplastic Process 270 19 0.020 None 0.500 2 2018 2019
CUI: C3839280
Disease: High grade serous carcinoma
High grade serous carcinoma 		disease Neoplastic Process 118 1 0.020 None 1.000 2 2013 2019
CUI: C4021985
Disease: Germ cell neoplasia
Germ cell neoplasia 		disease Neoplastic Process 22 0.020 None 1.000 2 2009 2010
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		disease Neoplastic Process 356 40 0.020 None 1.000 2 2012 2019
CUI: C0000846
Disease: Agenesis
Agenesis 		disease Congenital Abnormality 161 44 0.010 None 1.000 1 2018 2018
CUI: C0220810
Disease: Congenital defects
Congenital defects 		group Congenital Abnormality 126 6 0.010 None 1.000 1 2020 2020
CUI: C0231706
Disease: Circling gait
Circling gait 		phenotype Sign or Symptom 9 1 0.010 None 1.000 1 2004 2004
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 2017 2017
CUI: C0742034
Disease: cerebellar function
cerebellar function 		disease Disease or Syndrome 14 0.010 None 1.000 1 2018 2018
CUI: C1112356
Disease: Bronchial dysplasia
Bronchial dysplasia 		disease Disease or Syndrome 8 0.010 None 1.000 1 2017 2017
CUI: C1112474
Disease: Small cell carcinoma of esophagus
Small cell carcinoma of esophagus 		disease Neoplastic Process 8 5 0.010 None 1.000 1 2017 2017
CUI: C1411966
Disease: Clostridium; difficile (disorder)
Clostridium; difficile (disorder) 		disease Disease or Syndrome 106 0.010 None 1.000 1 2017 2017
CUI: C1504404
Disease: Hippocampal sclerosis
Hippocampal sclerosis 		disease Disease or Syndrome 84 14 0.010 None 1.000 1 2006 2006
CUI: C1519172
Disease: Salivary Gland Carcinoma ex Pleomorphic Adenoma
Salivary Gland Carcinoma ex Pleomorphic Adenoma 		disease Neoplastic Process 4 0.010 None 1.000 1 2017 2017
CUI: C1654637
Disease: androgen independent prostate cancer
androgen independent prostate cancer 		disease Neoplastic Process 190 5 0.010 None 1.000 1 2017 2017
CUI: C1739135
Disease: Progression of prostate cancer
Progression of prostate cancer 		disease Neoplastic Process 398 7 0.010 None 1.000 1 2011 2011
CUI: C2826323
Disease: Refractory Cytopenia of Childhood
Refractory Cytopenia of Childhood 		disease Neoplastic Process 264 3 0.010 None 1.000 1 2019 2019