SOX10, SRY-box transcription factor 10, 6663

N. diseases: 334; N. variants: 45
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 0.060 None 1.000 6 2014 2019
CUI: C3642347
Disease: Basal-Like Breast Carcinoma
Basal-Like Breast Carcinoma
disease Neoplastic Process 245 9 0.030 None 1.000 3 2013 2018
CUI: C1285498
Disease: Vegetation
Vegetation
disease Anatomical Abnormality 67 0.020 None 1.000 2 2017 2018
CUI: C4274084
Disease: Pelizaeus Merzbacher like disease
Pelizaeus Merzbacher like disease
disease Disease or Syndrome 10 0.020 None 1.000 2 2010 2011
Stage 0 Cutaneous Melanoma AJCC v6 and v7
disease Neoplastic Process 18 2 0.020 None 1.000 2 2018 2018
CUI: C0000846
Disease: Agenesis
Agenesis
disease Congenital Abnormality 161 44 0.010 None 1.000 1 2009 2009
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
disease Neoplastic Process 573 14 0.010 None 1.000 1 2019 2019
CUI: C0312414
Disease: Menstrual spotting
Menstrual spotting
phenotype Sign or Symptom 27 2 0.010 None 1.000 1 2015 2015
CUI: C0346027
Disease: Eccrine epithelioma
Eccrine epithelioma
disease Neoplastic Process 7 0.010 None < 0.001 1 2019 2019
CUI: C0546275
Disease: Hypoganglionosis
Hypoganglionosis
disease Disease or Syndrome 6 1 0.010 None 1.000 1 2018 2018
CUI: C1306726
Disease: Congenital naevus
Congenital naevus
disease Neoplastic Process 5 1 0.010 None 1.000 1 2012 2012
CUI: C1378050
Disease: Oncocytic Neoplasm
Oncocytic Neoplasm
disease Neoplastic Process 105 2 0.010 None 1.000 1 2016 2016
CUI: C1511789
Disease: Desmoplastic
Desmoplastic
disease Disease or Syndrome 117 4 0.010 None 1.000 1 2019 2019
CUI: C1656427
Disease: Early onset schizophrenia
Early onset schizophrenia
disease Mental or Behavioral Dysfunction 15 3 0.310 None 1.000 1 2012 2012
CUI: C3149631
Disease: MELORHEOSTOSIS, ISOLATED
MELORHEOSTOSIS, ISOLATED
disease Disease or Syndrome 35 0.010 None 1.000 1 2013 2013
CUI: C3642345
Disease: Luminal A Breast Carcinoma
Luminal A Breast Carcinoma
disease Neoplastic Process 153 11 0.010 None 1.000 1 2015 2015
CUI: C4022600
Disease: Peripheral amyelination
Peripheral amyelination
disease Congenital Abnormality 1 0.010 None 1.000 1 2012 2012
CUI: C4479552
Disease: 46,XX SEX REVERSAL 4
46,XX SEX REVERSAL 4
disease Congenital Abnormality 3 2 0.010 None < 0.001 1 2004 2004
CUI: C0241355
Disease: Small testicle
Small testicle
phenotype Finding 129 0.100 None 0
CUI: C0263498
Disease: Premature canities
Premature canities
phenotype Finding 33 4 0.100 None 0
CUI: C0520927
Disease: Decreased fertility
Decreased fertility
phenotype Finding 50 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype Finding 295 14 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0578626
Disease: blue iris (physical finding)
blue iris (physical finding)
phenotype Finding 28 2 0.100 None 0 1
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae
phenotype Congenital Abnormality 79 8 0.100 None 0