SIX1, SIX homeobox 1, 6495

N. diseases: 200; N. variants: 12
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 16 2008 2019
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.060 None 1.000 6 2012 2019
CUI: C0000846
Disease: Agenesis
Agenesis
disease Congenital Abnormality 161 44 0.010 None 1.000 1 2014 2014
CUI: C0280141
Disease: Acute Undifferentiated Leukemia
Acute Undifferentiated Leukemia
disease Neoplastic Process 119 1 0.010 None 1.000 1 2019 2019
Secondary malignant neoplasm of peritoneum
disease Neoplastic Process 58 2 0.010 None 1.000 1 2012 2012
CUI: C0431692
Disease: Bilateral renal hypoplasia
Bilateral renal hypoplasia
disease Congenital Abnormality 8 0.010 None 1.000 1 2014 2014
Midline facial cleft - Tessier cleft 0
disease Congenital Abnormality 8 1 0.010 None 1.000 1 2019 2019
CUI: C1378511
Disease: Undifferentiated leukemia
Undifferentiated leukemia
disease Neoplastic Process 120 2 0.010 None 1.000 1 2019 2019
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 2008 2008
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect
disease Congenital Abnormality 51 45 0.010 None 1.000 1 2018 2018
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia
disease Neoplastic Process 236 4 0.010 None 1.000 1 2020 2020
ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT
disease Disease or Syndrome 2 0.300 None 1.000 1 2004 2004
CUI: C3642346
Disease: Luminal B Breast Carcinoma
Luminal B Breast Carcinoma
disease Neoplastic Process 103 7 0.010 None 1.000 1 2012 2012
CUI: C3665865
Disease: Craniofacial deformity
Craniofacial deformity
disease Congenital Abnormality 3 0.010 None < 0.001 1 2019 2019
CUI: C4551596
Disease: Abnormal renal morphology
Abnormal renal morphology
disease Congenital Abnormality 35 3 0.010 None 1.000 1 2017 2017
CUI: C4551836
Disease: Perilobar nephroblastomatosis
Perilobar nephroblastomatosis
disease Neoplastic Process 3 0.010 None 1.000 1 2015 2015
CUI: C0238210
Disease: Malrotation of kidney
Malrotation of kidney
disease Congenital Abnormality 8 1 0.100 None 0
CUI: C0238300
Disease: Stenosis of nasolacrimal duct
Stenosis of nasolacrimal duct
phenotype Finding 7 2 0.100 None 0
CUI: C0341059
Disease: Lip pit
Lip pit
disease Anatomical Abnormality 14 0.100 None 0
CUI: C0395837
Disease: Stenosis of external auditory canal
Stenosis of external auditory canal
disease Disease or Syndrome 25 4 0.100 None 0
CUI: C0399605
Disease: Commissural lip pit
Commissural lip pit
phenotype Finding 2 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay
phenotype Pathologic Function 244 40 0.100 None 0 1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0 1
CUI: C1836047
Disease: Long face
Long face
phenotype Finding 182 12 0.100 None 0
Abnormality of the middle ear ossicles
phenotype Finding 5 1 0.100 None 0