SHOX, short stature homeobox, 6473

N. diseases: 138; N. variants: 16
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852555
rs137852555
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
CUI: C0265309
Disease:
Leri-Weill dyschondrosteosis 		0.810 GeneticVariation BEFREE In this study, we further characterized the cell death mechanisms triggered by SHOX and compared them with the effects induced by one clinically relevant mutant form of SHOX, detected in LWD patients (SHOX R153L) and a SHOX C-terminally truncated version (L185X). 24186869 2014
dbSNP: rs137852555
rs137852555
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
CUI: C0265309
Disease:
Leri-Weill dyschondrosteosis 		0.810 GeneticVariation UNIPROT SHOX point mutations in dyschondrosteosis. 11403039 2001
dbSNP: rs137852555
rs137852555
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
CUI: C0265309
Disease:
Leri-Weill dyschondrosteosis 		0.810 GeneticVariation UNIPROT Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia. 11030412 2000
dbSNP: rs137852555
rs137852555
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
CUI: C0265309
Disease:
Leri-Weill dyschondrosteosis 		T 0.810 CausalMutation CLINVAR
dbSNP: rs137852557
rs137852557
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
CUI: C0432230
Disease:
Langer Mesomelic Dysplasia Syndrome 		0.800 GeneticVariation UNIPROT SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features. 11889214 2002
dbSNP: rs137852554
rs137852554
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
CUI: C0265309
Disease:
Leri-Weill dyschondrosteosis 		0.800 GeneticVariation UNIPROT SHOX point mutations in dyschondrosteosis. 11403039 2001
dbSNP: rs137852556
rs137852556
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
CUI: C0265309
Disease:
Leri-Weill dyschondrosteosis 		0.800 GeneticVariation UNIPROT SHOX point mutations in dyschondrosteosis. 11403039 2001
dbSNP: rs137852554
rs137852554
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
CUI: C0265309
Disease:
Leri-Weill dyschondrosteosis 		0.800 GeneticVariation UNIPROT Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia. 11030412 2000
dbSNP: rs137852556
rs137852556
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
CUI: C0265309
Disease:
Leri-Weill dyschondrosteosis 		0.800 GeneticVariation UNIPROT Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia. 11030412 2000
dbSNP: rs137852554
rs137852554
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
CUI: C0265309
Disease:
Leri-Weill dyschondrosteosis 		G 0.800 CausalMutation CLINVAR
dbSNP: rs137852556
rs137852556
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
CUI: C0265309
Disease:
Leri-Weill dyschondrosteosis 		T 0.800 CausalMutation CLINVAR
dbSNP: rs137852557
rs137852557
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
CUI: C0432230
Disease:
Langer Mesomelic Dysplasia Syndrome 		T 0.800 CausalMutation CLINVAR
dbSNP: rs397514461
rs397514461
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
CUI: C0265309
Disease:
Leri-Weill dyschondrosteosis 		0.710 GeneticVariation BEFREE In conclusion, we have identified A170P as the first frequent SHOX mutation in Gypsy LWD and LMD individuals. 21712857 2011
dbSNP: rs397514461
rs397514461
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
CUI: C0432230
Disease:
Langer Mesomelic Dysplasia Syndrome 		0.710 GeneticVariation BEFREE In conclusion, we have identified A170P as the first frequent SHOX mutation in Gypsy LWD and LMD individuals. 21712857 2011
dbSNP: rs397514461
rs397514461
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
CUI: C0265309
Disease:
Leri-Weill dyschondrosteosis 		C 0.710 CausalMutation CLINVAR
dbSNP: rs397514461
rs397514461
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
CUI: C0432230
Disease:
Langer Mesomelic Dysplasia Syndrome 		C 0.710 CausalMutation CLINVAR
dbSNP: rs1057518701
rs1057518701
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
CUI: C1845118
Disease:
SHORT STATURE, IDIOPATHIC, X-LINKED 		A 0.700 CausalMutation CLINVAR
dbSNP: rs111549748
rs111549748
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
CUI: C1845118
Disease:
SHORT STATURE, IDIOPATHIC, X-LINKED 		C 0.700 CausalMutation CLINVAR
dbSNP: rs113313554
rs113313554
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
CUI: C1845118
Disease:
SHORT STATURE, IDIOPATHIC, X-LINKED 		A 0.700 CausalMutation CLINVAR
dbSNP: rs137852552
rs137852552
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
CUI: C0349588
Disease:
Short stature 		T 0.700 CausalMutation CLINVAR
dbSNP: rs137852552
rs137852552
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
CUI: C1845118
Disease:
SHORT STATURE, IDIOPATHIC, X-LINKED 		T 0.700 CausalMutation CLINVAR
dbSNP: rs137852553
rs137852553
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
CUI: C0265309
Disease:
Leri-Weill dyschondrosteosis 		G 0.700 CausalMutation CLINVAR
dbSNP: rs137852557
rs137852557
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
CUI: C0265309
Disease:
Leri-Weill dyschondrosteosis 		T 0.700 CausalMutation CLINVAR
dbSNP: rs137852558
rs137852558
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
CUI: C0265309
Disease:
Leri-Weill dyschondrosteosis 		T 0.700 CausalMutation CLINVAR
dbSNP: rs137852559
rs137852559
Entrez Id: 6473
Gene Symbol: SHOX
SHOX
CUI: C0265309
Disease:
Leri-Weill dyschondrosteosis 		C 0.700 CausalMutation CLINVAR