SHOX, short stature homeobox, 6473

N. diseases: 138; N. variants: 16
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265309
Disease: Leri-Weill dyschondrosteosis
Leri-Weill dyschondrosteosis 		0.800 Biomarker disease CTD_human
CUI: C0265309
Disease: Leri-Weill dyschondrosteosis
Leri-Weill dyschondrosteosis 		0.800 CausalMutation disease CLINVAR
CUI: C0265309
Disease: Leri-Weill dyschondrosteosis
Leri-Weill dyschondrosteosis 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0432230
Disease: Langer Mesomelic Dysplasia Syndrome
Langer Mesomelic Dysplasia Syndrome 		0.800 Biomarker disease CTD_human
CUI: C0432230
Disease: Langer Mesomelic Dysplasia Syndrome
Langer Mesomelic Dysplasia Syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0432230
Disease: Langer Mesomelic Dysplasia Syndrome
Langer Mesomelic Dysplasia Syndrome 		0.800 CausalMutation disease CLINVAR
CUI: C1845118
Disease: SHORT STATURE, IDIOPATHIC, X-LINKED
SHORT STATURE, IDIOPATHIC, X-LINKED 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C1845118
Disease: SHORT STATURE, IDIOPATHIC, X-LINKED
SHORT STATURE, IDIOPATHIC, X-LINKED 		0.710 CausalMutation disease CLINVAR
CUI: C1845118
Disease: SHORT STATURE, IDIOPATHIC, X-LINKED
SHORT STATURE, IDIOPATHIC, X-LINKED 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C1845118
Disease: SHORT STATURE, IDIOPATHIC, X-LINKED
SHORT STATURE, IDIOPATHIC, X-LINKED 		0.710 Biomarker disease CTD_human
CUI: C1845118
Disease: SHORT STATURE, IDIOPATHIC, X-LINKED
SHORT STATURE, IDIOPATHIC, X-LINKED 		0.710 GermlineCausalMutation disease ORPHANET
CUI: C1859399
Disease: Radial bowing
Radial bowing 		0.400 Biomarker phenotype HPO
CUI: C1859399
Disease: Radial bowing
Radial bowing 		0.400 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C1855276
Disease: Dorsolateral bowed, short radii
Dorsolateral bowed, short radii 		0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.200 Biomarker disease HPO
CUI: C0152441
Disease: Madelung Deformity
Madelung Deformity 		0.200 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.110 Biomarker disease HPO
CUI: C0158465
Disease: Acquired cubitus valgus
Acquired cubitus valgus 		0.110 Biomarker disease HPO
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.110 Biomarker disease HPO
CUI: C0549306
Disease: Mesomelia
Mesomelia 		0.110 Biomarker disease HPO
CUI: C1868578
Disease: Patellar aplasia
Patellar aplasia 		0.110 Biomarker phenotype HPO
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		0.100 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO
CUI: C0025995
Disease: Micromelia
Micromelia 		0.100 Biomarker disease HPO