Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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
CUI: C0080174
Disease: Spina Bifida Occulta
Spina Bifida Occulta 		0.100 Biomarker disease HPO
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		0.100 Biomarker disease HPO
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.100 Biomarker disease HPO
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		0.100 Biomarker disease HPO
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		0.100 Biomarker disease HPO
CUI: C0265695
Disease: Congenital fusion of ribs
Congenital fusion of ribs 		0.100 Biomarker disease HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		0.100 Biomarker phenotype HPO
CUI: C0426789
Disease: Short thorax
Short thorax 		0.100 Biomarker phenotype HPO
CUI: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation 		0.100 Biomarker disease HPO