Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome 		0.510 Biomarker disease BEFREE RIPPLY2-associated spondylocostal dysostosis is a rare disorder that leads to segmentation defects of the vertebrae. 30420309 2019
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome 		0.510 GermlineCausalMutation disease ORPHANET Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects. 25343988 2015
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome 		0.510 Biomarker disease MGD Ripply2 is essential for precise somite formation during mouse early development. 17531978 2007
CUI: C1837549
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 		0.500 Biomarker disease MGD Ripply2 is essential for precise somite formation during mouse early development. 17531978 2007
CUI: C1853296
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3 		0.500 Biomarker disease MGD Ripply2 is essential for precise somite formation during mouse early development. 17531978 2007
CUI: C1837549
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 		0.500 Biomarker disease CTD_human
CUI: C1853296
Disease: SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3 		0.500 Biomarker disease CTD_human
CUI: C4225279
Disease: SPONDYLOCOSTAL DYSOSTOSIS 6, AUTOSOMAL RECESSIVE
SPONDYLOCOSTAL DYSOSTOSIS 6, AUTOSOMAL RECESSIVE 		0.300 Biomarker disease GENOMICS_ENGLAND Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects. 25343988 2015
CUI: C3150942
Disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE 		0.200 Biomarker disease MGD Ripply2 is essential for precise somite formation during mouse early development. 17531978 2007
CUI: C4083048
Disease: SPONDYLOCOSTAL DYSOSTOSIS 5
SPONDYLOCOSTAL DYSOSTOSIS 5 		0.200 Biomarker disease MGD Ripply2 is essential for precise somite formation during mouse early development. 17531978 2007
CUI: C4274761
Disease: Autosomal dominant spondylocostal dysostosis
Autosomal dominant spondylocostal dysostosis 		0.200 Biomarker disease MGD Ripply2 is essential for precise somite formation during mouse early development. 17531978 2007
CUI: C1859209
Disease: Klippel Feil syndrome recessive type
Klippel Feil syndrome recessive type 		0.110 GeneticVariation disease CLINVAR Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome. 26238661 2015
CUI: C1859209
Disease: Klippel Feil syndrome recessive type
Klippel Feil syndrome recessive type 		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
CUI: C1859209
Disease: Klippel Feil syndrome recessive type
Klippel Feil syndrome recessive type 		0.110 GeneticVariation disease CLINVAR Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects. 25343988 2015
CUI: C1395317
Disease: Dextrocardia with situs inversus
Dextrocardia with situs inversus 		0.100 GeneticVariation disease CLINVAR Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome. 26238661 2015
CUI: C1395317
Disease: Dextrocardia with situs inversus
Dextrocardia with situs inversus 		0.100 GeneticVariation disease CLINVAR Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects. 25343988 2015
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.100 Biomarker phenotype HPO
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		0.100 Biomarker phenotype HPO
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 Biomarker phenotype HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		0.100 Biomarker phenotype HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO