SOX10, SRY-box transcription factor 10, 6663

N. diseases: 334; N. variants: 45
Disease: Hirschsprung Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 GeneticVariation disease BEFREE Interestingly, neurological phenotypes reminiscent of that observed in WS4 (PCWH syndrome [peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, WS, and Hirschsprung disease]) were observed in some WS2-affected patients with SOX10 deletions. 17999358 2007
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 GeneticVariation disease BEFREE SOX10 mutations are specifically associated with a more severe phenotype called PCWH: peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease. 16504559 2006
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 GeneticVariation disease BEFREE In this study, comprehensive analysis of RET, GDNF, EDNRB, ET-3, and SOX-10 genes among sporadic HSCR in Thailand was conducted by standard PCR-SSCP, RFLP, and sequencing methods. 17009072 2006
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 Biomarker disease BEFREE To systematically identify genes that modulate Sox10-dependent aganglionosis, we performed a single nucleotide polymorphism-based genome scan in Sox10Dom/+ F1 intercross progeny. 15843399 2005
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 GeneticVariation disease BEFREE Discrepancy between macroscopic and microscopic transitional zones in Hirschsprung's disease with reference to the type of RET/GDNF/SOX10 gene mutation. 12720173 2003
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 AlteredExpression disease BEFREE While the lack of normal SOX10 mediated activation of RET transcription may lead to intestinal aganglionosis, overexpression of genes coding for structural myelin proteins such as P0 due to mutant SOX10 may explain the dysmyelination phenotype observed in the patients with an additional neurological disorder. 14523991 2003
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 GeneticVariation disease LHGDN Discrepancy between macroscopic and microscopic transitional zones in Hirschsprung's disease with reference to the type of RET/GDNF/SOX10 gene mutation. 12720173 2003
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 GeneticVariation disease BEFREE These results show that chronic intestinal pseudo-obstruction may be a manifestation associated with WS, and indicate that aganglionosis is not the only mechanism underlying the intestinal dysfunction of patients with SOX10 mutations. 12189494 2002
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 Biomarker disease BEFREE Coding sequence mutations in RET, GDNF, EDNRB, EDN3 and SOX10 lead to long-segment (L-HSCR) and syndromic HSCR but fail to explain the transmission of the much more common short-segment form (S-HSCR). 11953745 2002
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 Biomarker disease BEFREE RET, GDNF, EDNRB, EDN3, and SOX10 lead to long-segment (L-HSCR) as well as syndromic HSCR but fail to explain the transmission of the much more common short-segment form (S-HSCR). 12239580 2002
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 GeneticVariation disease BEFREE SOX10 mutations have been found in patients with intestinal aganglionosis and depigmentation with deafness (Waardenburg-Hirschsprung). 11499640 2001
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 Biomarker disease BEFREE Expression and cellular distribution of SOX10 in bowel segments of normal and HD infants were examined by reverse transcription-polymerase chain reaction and in situ hybridisation. 11454798 2001
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 GeneticVariation disease BEFREE Mutations in SOX10, a transcription modulator crucial in the development of the enteric nervous system (ENS), melanocytes and glial cells, are found in Shah-Waardenburg syndrome (WS4), a neurocristopathy that associates intestinal aganglionosis, pigmentation defects and sensorineural deafness. 11734543 2001
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 Biomarker disease BEFREE Sox10(Dom)/+ mice exhibit variability of aganglionosis and hypopigmentation influenced by genetic background similar to that observed in WS4 patients. 10077527 1999
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 Biomarker disease BEFREE These results identify the transcriptional regulator Sox10 as an essential factor in mouse neural crest development and as a further candidate gene for human Hirschsprung disease, especially in cases where it is associated with features of Waardenburg syndrome. 9560246 1998
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 GeneticVariation disease BEFREE In order to test if Gfra1 could be the Dom gene or if it represents a new possible HSCR locus we have undertaken the mapping of the mouse Gfra1. 9465906 1997
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 GeneticVariation disease CLINVAR
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 Biomarker disease HPO