RIN2, Ras and Rab interactor 2, 54453

N. diseases: 86; N. variants: 10
Disease: Scoliosis, unspecified ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.110 GeneticVariation disease BEFREE RIN2 syndrome also known as MACS syndrome is a rare autosomal recessive connective tissue disorder caused by RIN2 mutations and is accompanied by following clinical features: macrocephaly, coarsening of facial features, downward slanting palpebral fissures, Puffy droopy eyelids, full everted lips, soft redundant skin especially in face, gum hypertrophy, irregular dentition, sparse scalp hair, skeletal problems, joint hypermobility and scoliosis. 30769224 2020
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.110 Biomarker disease HPO