RIN2, Ras and Rab interactor 2, 54453

N. diseases: 86; N. variants: 10
Disease: Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751321
Disease: Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 		0.720 GeneticVariation disease BEFREE Our findings expand the clinical spectrum of MACS syndrome due to mutation in RIN2 gene. 30769224 2020
CUI: C2751321
Disease: Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 		0.720 Biomarker disease GENOMICS_ENGLAND RIN2 syndrome: Expanding the clinical phenotype. 27277385 2016
CUI: C2751321
Disease: Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 		0.720 GermlineCausalMutation disease ORPHANET We describe herein the fourth family with MACS syndrome in two siblings carrying a novel homozygous mutation, c.1878_1879insC in exon 8 of the RIN2 gene, which predicts p.Ile627Hisfs*7. 24449201 2014
CUI: C2751321
Disease: Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 		0.720 GeneticVariation disease BEFREE Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2. 24449201 2014
CUI: C2751321
Disease: Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 		0.720 GermlineCausalMutation disease ORPHANET RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. 19631308 2009
CUI: C2751321
Disease: Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 		0.720 Biomarker disease CTD_human
CUI: C2751321
Disease: Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 		0.720 CausalMutation disease CLINVAR
CUI: C2751321
Disease: Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 		0.720 GeneticVariation disease CLINVAR