SOX9, SRY-box transcription factor 9, 6662

N. diseases: 466; N. variants: 25
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 1.000 39 2008 2020
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 11 1 1995 2018
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 1.000 11 2008 2019
CUI: C0028259
Disease: Nodule
Nodule 		phenotype Acquired Abnormality 278 19 0.030 None 1.000 3 2016 2020
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		disease Anatomical Abnormality 148 18 0.030 None 1.000 3 1997 2013
CUI: C0334037
Disease: Intestinal metaplasia
Intestinal metaplasia 		phenotype Disease or Syndrome 266 24 0.020 None 1.000 2 2011 2017
CUI: C1397307
Disease: Cardiac fibrosis
Cardiac fibrosis 		disease Disease or Syndrome 297 3 0.020 None 1.000 2 2017 2019
CUI: C0279603
Disease: Chondroblastic osteosarcoma
Chondroblastic osteosarcoma 		disease Neoplastic Process 3 0.010 None 1.000 1 2017 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.010 None 1.000 1 2015 2015
CUI: C0855073
Disease: Undifferentiated (Embryonal) Sarcoma
Undifferentiated (Embryonal) Sarcoma 		disease Neoplastic Process 35 4 0.010 None 1.000 1 2015 2015
CUI: C1142152
Disease: Heart valve calcification
Heart valve calcification 		disease Disease or Syndrome 7 0.010 None 1.000 1 2016 2016
CUI: C1260954
Disease: Morphologically altered structure
Morphologically altered structure 		disease Anatomical Abnormality 46 0.010 None 1.000 1 2013 2013
CUI: C1402315
Disease: Vascular lesions
Vascular lesions 		disease Disease or Syndrome 111 9 0.010 None 1.000 1 2017 2017
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 1996 1996
CUI: C1704376
Disease: Uterine Corpus Carcinosarcoma
Uterine Corpus Carcinosarcoma 		disease Neoplastic Process 33 0.010 None 1.000 1 2016 2016
CUI: C1708566
Disease: Invasive Prostate Carcinoma
Invasive Prostate Carcinoma 		disease Neoplastic Process 45 0.010 None 1.000 1 2018 2018
CUI: C2827469
Disease: Coronary Microvascular Disease
Coronary Microvascular Disease 		disease Disease or Syndrome 45 3 0.010 None 1.000 1 1996 1996
CUI: C2919755
Disease: Testicular dysgenesis syndrome
Testicular dysgenesis syndrome 		disease Disease or Syndrome 19 0.010 None 1.000 1 2008 2008
CUI: C3146257
Disease: Stage II Colon Cancer AJCC v7
Stage II Colon Cancer AJCC v7 		disease Neoplastic Process 48 3 0.010 None 1.000 1 2016 2016
CUI: C3495890
Disease: Osteochondral defects
Osteochondral defects 		phenotype Anatomical Abnormality 17 0.010 None 1.000 1 2018 2018
CUI: C3539168
Disease: PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A 		disease Disease or Syndrome 34 3 0.010 None 1.000 1 2018 2018
CUI: C3839280
Disease: High grade serous carcinoma
High grade serous carcinoma 		disease Neoplastic Process 118 1 0.010 None 1.000 1 2019 2019
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		disease Disease or Syndrome 11 0.300 None 1.000 1 2011 2011
CUI: C4525119
Disease: Stage II Colon Cancer AJCC v8
Stage II Colon Cancer AJCC v8 		disease Neoplastic Process 48 3 0.010 None 1.000 1 2016 2016
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		disease Disease or Syndrome 741 81 0.010 None 1.000 1 2018 2018