Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4540020
Disease: JOINT LAXITY, SHORT STATURE, AND MYOPIA
JOINT LAXITY, SHORT STATURE, AND MYOPIA 		0.600 GermlineCausalMutation disease ORPHANET GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome. 28475863 2017
CUI: C4540020
Disease: JOINT LAXITY, SHORT STATURE, AND MYOPIA
JOINT LAXITY, SHORT STATURE, AND MYOPIA 		0.600 Biomarker disease GENOMICS_ENGLAND GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome. 28475863 2017
CUI: C4540020
Disease: JOINT LAXITY, SHORT STATURE, AND MYOPIA
JOINT LAXITY, SHORT STATURE, AND MYOPIA 		0.600 CausalMutation disease CLINVAR
CUI: C0175778
Disease: Larsen syndrome
Larsen syndrome 		0.310 Biomarker disease GENOMICS_ENGLAND Our results suggest that GZF1 mutations cause a phenotype of severe myopia and significant articular involvement not previously described in Larsen syndrome. 28475863 2017
CUI: C0175778
Disease: Larsen syndrome
Larsen syndrome 		0.310 Biomarker disease GENOMICS_ENGLAND Our results suggest that GZF1 mutations cause a phenotype of severe myopia and significant articular involvement not previously described in Larsen syndrome. 28475863 2017
CUI: C0175778
Disease: Larsen syndrome
Larsen syndrome 		0.310 Biomarker disease GENOMICS_ENGLAND Our results suggest that GZF1 mutations cause a phenotype of severe myopia and significant articular involvement not previously described in Larsen syndrome. 28475863 2017
CUI: C0175778
Disease: Larsen syndrome
Larsen syndrome 		0.310 GeneticVariation disease BEFREE Our results suggest that GZF1 mutations cause a phenotype of severe myopia and significant articular involvement not previously described in Larsen syndrome. 28475863 2017
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.110 GeneticVariation disease BEFREE Our results suggest that GZF1 mutations cause a phenotype of severe myopia and significant articular involvement not previously described in Larsen syndrome. 28475863 2017
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.110 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		0.100 Biomarker disease HPO
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.100 Biomarker disease HPO
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.100 Biomarker disease HPO
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		0.100 Biomarker disease HPO
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis 		0.100 Biomarker disease HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0521525
Disease: Short neck
Short neck 		0.100 Biomarker phenotype HPO
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		0.100 Biomarker disease HPO
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		0.100 Biomarker disease HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C3277226
Disease: Restrictive ventilatory defect
Restrictive ventilatory defect 		0.100 Biomarker phenotype HPO