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 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 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 GeneticVariation disease GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
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: C0019322
Disease: Umbilical hernia
Umbilical hernia 		0.100 GeneticVariation phenotype CLINVAR
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: C0162285
Disease: Edema of eyelid
Edema of eyelid 		0.100 GeneticVariation phenotype CLINVAR
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: 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: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 GeneticVariation phenotype CLINVAR
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: C1832446
Disease: Sparse eyebrow
Sparse eyebrow 		0.100 GeneticVariation phenotype CLINVAR
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 GeneticVariation phenotype CLINVAR
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: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.010 GeneticVariation disease BEFREE <i>Methods</i>: Children with CP (n = 12; MACS [Manual Abilities Classification System] levels I-III) and typically developing (TD) children (n = 26) performed an arrow-based version of the Eriksen flanker task where a button press was performed with either the second or third digit of the right hand depending on the arrow's direction. 31679451 2019
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.010 GeneticVariation group BEFREE Biallelic defects in the RIN2 gene, encoding the Ras and Rab interactor 2 protein, are associated with a rare autosomal recessive connective tissue disorder, with only nine patients from four independent families reported to date. 27277385 2016
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 GeneticVariation disease BEFREE A multicenter randomized phase III study for newly diagnosed maximally resected glioblastoma comparing carmustine wafer implantation followed by chemoradiotherapy with temozolomide with chemoradiotherapy alone; Japan Clinical Oncology Group Study JCOG1703 (MACS study). 31804699 2019
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		0.010 GeneticVariation disease BEFREE We tested the novel MLP1 polymorphism and the MACS flanking markers in a series of 43 Caucasian simplex families in which the affected child had a lumbosacral myelomeningocele. 9598313 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 GeneticVariation group BEFREE Bone marrow-derived primary MSCs or murine 10 T1/2 MSCs were tumor-conditioned (TC-MSCs) and co-cultured with B16 melanoma antigen-specific DCs and MACS purified CD4<sup>+</sup> and CD8<sup>+</sup> T cells. 31547863 2019
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.010 GeneticVariation group BEFREE Nonetheless, the identification of linked and neighboring polymorphisms for MACS and MLP should permit similar genetic studies in other groups of patients with neural tube defects and other neurodevelopmental abnormalities. 9598313 1998
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.010 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