SIX5, SIX homeobox 5, 147912

N. diseases: 38; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy 		0.100 AlteredExpression disease BEFREE The total mRNA level of DMAHP/SIX5 was significantly lower in DM than in controls, but the DMPK mRNA level was unchanged. 10951446 2000
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy 		0.100 AlteredExpression disease BEFREE We report an expression pattern for SIX5 in the normal adult eye that matches the sites of the ocular pathology in DM. 9949207 1999
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy 		0.100 AlteredExpression disease BEFREE Together, these results demonstrate that CTG-repeat expansions can suppress local gene expression and implicate DMAHP in DM pathogenesis. 9241282 1997
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy 		0.100 Biomarker disease BEFREE Quantitative analysis of RNA also indicates that although the level of cytoplasmic DMPK transcript is altered in DM patients, the levels of transcripts from 59 and DMAHP, two genes that immediately flank DMPK, are unaffected in DM cell lines. 9207102 1997
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy 		0.100 AlteredExpression disease BEFREE We show here that DMAHP expression in myoblasts, muscle and myocardium is reduced by the DM mutation is cis, and the magnitude of this effect depends on the extent of CTG repeat expansion. 9241283 1997
CUI: C0006131
Disease: Branchioma
Branchioma 		0.100 Biomarker disease HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 Biomarker disease HPO
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		0.100 Biomarker disease HPO
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		0.100 Biomarker disease HPO
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		0.100 Biomarker disease HPO
CUI: C0235831
Disease: Renal Cell Dysplasia
Renal Cell Dysplasia 		0.100 Biomarker disease HPO
CUI: C0266589
Disease: Congenital ear anomaly NOS (disorder)
Congenital ear anomaly NOS (disorder) 		0.100 Biomarker group HPO
CUI: C0395837
Disease: Stenosis of external auditory canal
Stenosis of external auditory canal 		0.100 Biomarker disease HPO
CUI: C0521619
Disease: Obstruction of pelviureteric junction
Obstruction of pelviureteric junction 		0.100 Biomarker phenotype HPO
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 Biomarker phenotype HPO
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.100 Biomarker disease HPO
CUI: C1836678
Disease: Abnormality of the middle ear ossicles
Abnormality of the middle ear ossicles 		0.100 Biomarker phenotype HPO
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		0.100 Biomarker disease HPO
CUI: C1857453
Disease: Renal hypoplasia/aplasia
Renal hypoplasia/aplasia 		0.100 Biomarker phenotype HPO
CUI: C1858567
Disease: Abnormal lacrimal duct morphology
Abnormal lacrimal duct morphology 		0.100 Biomarker phenotype HPO
CUI: C1860816
Disease: Preauricular skin tag
Preauricular skin tag 		0.100 Biomarker phenotype HPO
CUI: C1866190
Disease: Atresia of the external auditory canal
Atresia of the external auditory canal 		0.100 Biomarker disease HPO
CUI: C2676974
Disease: Hypoplasia of the cochlea
Hypoplasia of the cochlea 		0.100 Biomarker phenotype HPO
CUI: C3494422
Disease: Retrognathia
Retrognathia 		0.100 Biomarker disease HPO
CUI: C3536714
Disease: Renal dysplasia
Renal dysplasia 		0.100 Biomarker disease HPO