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: C0278878
Disease: Adult Glioblastoma
Adult 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: C0280474
Disease: Childhood Glioblastoma
Childhood 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: C0338596
Disease: Spastic cerebral palsy
Spastic cerebral palsy 		0.010 GeneticVariation disease BEFREE Twenty children with unilateral spastic CP participated in this study (16 males, four females; mean age 9y 2mo [standard deviation (SD) 3y 2mo], Manual Ability Classification System [MACS] level I-III). 27465858 2017
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.010 GeneticVariation disease BEFREE Association studies in the Japanese Suita cohort of MACS polymorphisms and various phenotypes revealed the contribution of the Leu513Ser polymorphism in MACS2 to multiple risk factors of the metabolic syndrome. 16521160 2006
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.010 GeneticVariation disease BEFREE BBS7 and RIN2 variants cause Bardet Biedl syndrome and RIN2 syndrome respectively. 31521835 2020
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		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: C2363741
Disease: HIV-1 infection
HIV-1 infection 		0.010 GeneticVariation disease BEFREE For risks of infection, no evidences indicated SDF1 polymorphism was associated with the risk of HIV-1 infection in all genetic models (recessive model: OR = 0.94, 95% Cl: 0.75-1.17; homozygous model: OR = 0.89, 95% Cl: 0.70-1.15; heterozygous model: OR = 1.06, 95% Cl: 0.83-1.35; allele model: OR = 0.95, 95% Cl: 0.79-1.13), Furthermore, we failed to find an delayed AIDS progression except in some specific cohorts including MACS cohorts (RH = 0.38, 95% Cl: 0.17-0.59 for time to AIDS; RH = 0.27, 95% Cl: 0.07-0.46 for time to death at the study entry). 29420545 2018
CUI: C3662483
Disease: Allergic sensitization
Allergic sensitization 		0.010 GeneticVariation disease BEFREE In TAHS, cumulative sibling exposure before age 6 months, 2 and 4 years was each associated with a reduced risk of allergic sensitization at age 45 years.A similar effect was observed in MACS. 30288821 2019
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 Biomarker disease GENOMICS_ENGLAND RIN2 syndrome: Expanding the clinical phenotype. 27277385 2016
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.110 Biomarker disease HPO
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: 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
CUI: C0019572
Disease: Hirsutism
Hirsutism 		0.100 Biomarker phenotype HPO
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.100 Biomarker disease HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0086437
Disease: Joint laxity
Joint laxity 		0.100 Biomarker phenotype HPO
CUI: C0151529
Disease: Prolonged bleeding time
Prolonged bleeding time 		0.100 Biomarker phenotype HPO
CUI: C0162285
Disease: Edema of eyelid
Edema of eyelid 		0.100 Biomarker phenotype HPO
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.100 Biomarker disease HPO
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 Biomarker disease HPO