GDF6, growth differentiation factor 6, 392255

N. diseases: 91; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751307
Disease: MICROPHTHALMIA, ISOLATED 4 (disorder)
MICROPHTHALMIA, ISOLATED 4 (disorder) 		0.700 GeneticVariation disease UNIPROT Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. 24033328 2014
CUI: C2751307
Disease: MICROPHTHALMIA, ISOLATED 4 (disorder)
MICROPHTHALMIA, ISOLATED 4 (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND GDF6, a novel locus for a spectrum of ocular developmental anomalies. 17236135 2007
CUI: C2751307
Disease: MICROPHTHALMIA, ISOLATED 4 (disorder)
MICROPHTHALMIA, ISOLATED 4 (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. 23307924 2013
CUI: C2751307
Disease: MICROPHTHALMIA, ISOLATED 4 (disorder)
MICROPHTHALMIA, ISOLATED 4 (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes. 19129173 2009
CUI: C2751307
Disease: MICROPHTHALMIA, ISOLATED 4 (disorder)
MICROPHTHALMIA, ISOLATED 4 (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3715164
Disease: LEBER CONGENITAL AMAUROSIS 17
LEBER CONGENITAL AMAUROSIS 17 		0.700 GeneticVariation disease UNIPROT Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. 23307924 2013
CUI: C3715164
Disease: LEBER CONGENITAL AMAUROSIS 17
LEBER CONGENITAL AMAUROSIS 17 		0.700 Biomarker disease CTD_human
CUI: C3715164
Disease: LEBER CONGENITAL AMAUROSIS 17
LEBER CONGENITAL AMAUROSIS 17 		0.700 Biomarker disease GENOMICS_ENGLAND Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. 23307924 2013
CUI: C3715164
Disease: LEBER CONGENITAL AMAUROSIS 17
LEBER CONGENITAL AMAUROSIS 17 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3715164
Disease: LEBER CONGENITAL AMAUROSIS 17
LEBER CONGENITAL AMAUROSIS 17 		0.700 CausalMutation disease CLINVAR
CUI: C4693531
Disease: MULTIPLE SYNOSTOSES SYNDROME 4
MULTIPLE SYNOSTOSES SYNDROME 4 		0.610 CausalMutation disease CLINVAR A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal. 26643732 2016
CUI: C4693531
Disease: MULTIPLE SYNOSTOSES SYNDROME 4
MULTIPLE SYNOSTOSES SYNDROME 4 		0.610 GeneticVariation disease UNIPROT A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal. 26643732 2016
CUI: C4693531
Disease: MULTIPLE SYNOSTOSES SYNDROME 4
MULTIPLE SYNOSTOSES SYNDROME 4 		0.610 Biomarker disease GENOMICS_ENGLAND Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. 18425797 2008
CUI: C4693531
Disease: MULTIPLE SYNOSTOSES SYNDROME 4
MULTIPLE SYNOSTOSES SYNDROME 4 		0.610 GeneticVariation disease BEFREE In this report, we describe the second family with GDF6-related multiple synostoses syndrome (SYNS4), caused by a novel c.1287C>A/p.Ser429Arg mutation in GDF6. 29130651 2018
CUI: C4693531
Disease: MULTIPLE SYNOSTOSES SYNDROME 4
MULTIPLE SYNOSTOSES SYNDROME 4 		0.610 GeneticVariation disease UNIPROT In this report, we describe the second family with GDF6-related multiple synostoses syndrome (SYNS4), caused by a novel c.1287C>A/p.Ser429Arg mutation in GDF6. 29130651 2018
CUI: C3150968
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 		0.600 Biomarker disease CTD_human
CUI: C3150968
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 		0.600 Biomarker disease GENOMICS_ENGLAND GDF6, a novel locus for a spectrum of ocular developmental anomalies. 17236135 2007
CUI: C3150968
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 		0.600 CausalMutation disease CLINVAR
CUI: C3150968
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.310 GermlineCausalMutation disease ORPHANET Review and update on the molecular basis of Leber congenital amaurosis. 25685757 2015
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.310 Biomarker disease BEFREE Here we show that mutations in the transforming growth factor-β (TGF-β) ligand Growth Differentiation Factor 6, which specifies the dorso-ventral retinal axis, contribute to Leber congenital amaurosis. 23307924 2013
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.310 GermlineCausalMutation disease ORPHANET Here we show that mutations in the transforming growth factor-β (TGF-β) ligand Growth Differentiation Factor 6, which specifies the dorso-ventral retinal axis, contribute to Leber congenital amaurosis. 23307924 2013
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0344490
Disease: Sacral agenesis
Sacral agenesis 		0.300 Biomarker disease GENOMICS_ENGLAND Klippel-Feil anomaly with sacral agenesis: an additional subtype, type IV. 3065353 1988
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.130 Biomarker disease HPO