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: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.010 Biomarker disease BEFREE Mutations in DLL3, MESP2, LFNG, HES7, TBX6, and RIPPLY2 are known to cause different subtypes of SCD. 29681102 2018
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		0.010 Biomarker disease BEFREE Mutations in DLL3, MESP2, LFNG, HES7, TBX6, and RIPPLY2 are known to cause different subtypes of SCD. 29681102 2018
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		0.010 Biomarker disease BEFREE We investigated the linkage between presumptive TA-related genes (FCGR2A/FCGR3A, EEFSEC, RPS9/LILRB3, RIPPLY2 and MLX) and TA in the Han Chinese population.We performed a large case-control multi-center study of 412 Han Chinese TA patients and 597 ethnically matched healthy controls. 27769046 2017
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: 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: 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: C0266642
Disease: Situs ambiguus
Situs ambiguus 		0.010 GeneticVariation 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: 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: 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: 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: 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