GDF6, growth differentiation factor 6, 392255

N. diseases: 91; N. variants: 12
Disease: Klippel-Feil Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		0.740 Biomarker disease BEFREE Mutated genes for both dominant (GDF6 and GDF3) and recessive (MEOX1) forms of Klippel-Feil syndrome have been shown to be involved in somite development via transcription regulation and signaling pathways. 26238661 2015
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		0.740 Biomarker disease BEFREE Of particular interest were two regions (Chr8, Max LOD = 3.04; Chr12, Max LOD = 2.09) identified within the subset of "CTD-negative" families, both of which harbor growth differentiation factors (GDF6, GDF3) implicated in the development of Klippel-Feil syndrome (KFS). 23620759 2013
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		0.740 GeneticVariation disease BEFREE Multiple mis-sense variants were identified in patients with ocular and/or skeletal (Klippel-Feil) anomalies including one individual with heterozygous alterations in GDF3 and GDF6. 19864492 2010
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		0.740 GeneticVariation disease BEFREE Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. 18425797 2008
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		0.740 GermlineCausalMutation disease ORPHANET Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. 18425797 2008
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		0.740 Biomarker disease CTD_human Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. 18425797 2008
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		0.740 GeneticVariation disease LHGDN Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. 18425797 2008
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		0.740 Biomarker disease GENOMICS_ENGLAND
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		0.740 Biomarker disease HPO