Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4222
Gene Symbol: MEOX1
MEOX1 		0.600 Biomarker disease GENOMICS_ENGLAND Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype. 24073994 2013
Entrez Id: 4222
Gene Symbol: MEOX1
MEOX1 		0.600 Biomarker disease CTD_human
Entrez Id: 4222
Gene Symbol: MEOX1
MEOX1 		0.600 CausalMutation disease CLINVAR
Entrez Id: 4222
Gene Symbol: MEOX1
MEOX1 		0.600 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 134701
Gene Symbol: RIPPLY2
RIPPLY2 		0.110 GeneticVariation disease CLINVAR Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome. 26238661 2015
Entrez Id: 134701
Gene Symbol: RIPPLY2
RIPPLY2 		0.110 Biomarker disease BEFREE Our data confirm RIPPLY2 as a novel gene for autosomal recessive Klippel-Feil syndrome, and in addition-from a mechanistic standpoint-suggest the possibility that mutations in RIPPLY2 could also lead to heterotaxy. 26238661 2015
Entrez Id: 134701
Gene Symbol: RIPPLY2
RIPPLY2 		0.110 GeneticVariation disease CLINVAR Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects. 25343988 2015