SIX2, SIX homeobox 2, 10736

N. diseases: 79; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.340 Biomarker disease CTD_human A Children's Oncology Group and TARGET initiative exploring the genetic landscape of Wilms tumor. 28825729 2017
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.340 Biomarker disease BEFREE The preoperative venous blood SIX2 expression level serves as an underlying biomarker for early diagnosis of WT. 25921281 2015
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.340 Biomarker disease BEFREE SIX2 also appears to be a valuable marker for minimal residual blastema contributing to the prognosis of nephroblastomas. 22995329 2013
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.340 Biomarker disease BEFREE To evaluate expression domains and the pathogenic significance of SIX2 and CITED1 across WT, the Children's Oncology Group provided 40 WT specimens of stages I to IV (n = 10 per stage), which were enriched for unfavorable histology (n = 20) and treatment failure (relapse or death, n = 20). 22703800 2012
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.340 Biomarker disease BEFREE Accordingly, methylation-specific quantitative polymerase chain reaction demonstrated promoter hypomethylation of WT1, PAX2, and SIX2 in primary WT and fetal kidneys, whereas progressive WT xenografts showed hypermethylation of SIX2, possibly leading to loss of renal differentiation. 18467665 2008
CUI: C2930471
Disease: Bilateral Wilms Tumor
Bilateral Wilms Tumor
0.300 Biomarker disease CTD_human A Children's Oncology Group and TARGET initiative exploring the genetic landscape of Wilms tumor. 28825729 2017
CUI: C1968949
Disease: Cakut
Cakut
0.300 Biomarker disease GENOMICS_ENGLAND Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract. 24429398 2014
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.300 Biomarker group CTD_human Misexpression of Six2 is associated with heritable frontonasal dysplasia and renal hypoplasia in 3H1 Br mice. 18570229 2008
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
0.300 Biomarker disease CTD_human Differential expression of inflammation- and apoptosis-related genes in spinal cords of a mutant SOD1 transgenic mouse model of familial amyotrophic lateral sclerosis. 11796754 2002
Amyotrophic Lateral Sclerosis, Sporadic
0.300 Biomarker disease CTD_human Differential expression of inflammation- and apoptosis-related genes in spinal cords of a mutant SOD1 transgenic mouse model of familial amyotrophic lateral sclerosis. 11796754 2002
Amyotrophic Lateral Sclerosis, Familial
0.300 Biomarker disease CTD_human Differential expression of inflammation- and apoptosis-related genes in spinal cords of a mutant SOD1 transgenic mouse model of familial amyotrophic lateral sclerosis. 11796754 2002
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.110 Biomarker disease BEFREE SIX2 haploinsufficiency causes conductive hearing loss with ptosis in humans. 27383657 2016
CUI: C0033377
Disease: Ptosis
Ptosis
0.110 Biomarker disease BEFREE SIX2 haploinsufficiency causes conductive hearing loss with ptosis in humans. 27383657 2016
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.110 Biomarker disease HPO
CUI: C0033377
Disease: Ptosis
Ptosis
0.110 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.100 Biomarker disease HPO
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.100 Biomarker phenotype HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.100 Biomarker phenotype HPO
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
0.100 Biomarker disease HPO
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
0.100 Biomarker disease HPO
Small for gestational age (disorder)
0.100 Biomarker phenotype HPO
CUI: C0239676
Disease: High forehead
High forehead
0.100 Biomarker phenotype HPO
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus
0.100 Biomarker phenotype HPO
CUI: C0349588
Disease: Short stature
Short stature
0.100 Biomarker phenotype HPO
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip
0.100 Biomarker phenotype HPO