RIN2, Ras and Rab interactor 2, 54453

N. diseases: 86; N. variants: 10
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
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.110 Biomarker disease BEFREE Sorting of breast cancer stem cells (BCSCs) were by using MACS assay. 30482232 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.110 GeneticVariation disease GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.110 Biomarker disease HPO
CUI: C0202159
Disease: Parathyroid hormone measurement
Parathyroid hormone measurement 		0.100 GeneticVariation phenotype GWASCAT Genome-wide meta-analysis identifies novel loci associated with parathyroid hormone level. 30134803 2018
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.100 GeneticVariation phenotype GWASDB A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation. 22291609 2012
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB A genome-wide screen for interactions reveals a new locus on 4p15 modifying the effect of waist-to-hip ratio on total cholesterol. 22028671 2011
CUI: C0004936
Disease: Mental disorders
Mental disorders 		0.100 GeneticVariation group GWASDB A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. 20889312 2010
CUI: C0004936
Disease: Mental disorders
Mental disorders 		0.100 GeneticVariation group GWASCAT A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. 20889312 2010
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		0.100 GeneticVariation group GWASCAT A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. 20889312 2010
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		0.100 GeneticVariation group GWASDB A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. 20889312 2010
CUI: C0002170
Disease: Alopecia
Alopecia 		0.100 Biomarker disease HPO
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		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: C0016202
Disease: Flatfoot
Flatfoot 		0.100 Biomarker phenotype HPO