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 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 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 CausalMutation disease CLINVAR
CUI: C3838784
Disease: Bilateral cerebral palsy
Bilateral cerebral palsy 		0.010 AlteredExpression disease BEFREE Mini-MACS/MACS levels and AHA-18 or BoHA-18 distinguished between various developmental trajectories both for children with unilateral and bilateral CP. 29392717 2018
CUI: C4021107
Disease: Non-obstructive azoospermia
Non-obstructive azoospermia 		0.010 AlteredExpression disease BEFREE SSC: spermatogonial stem cells; DP: differential plating; NOA: non-obstructive azoospermia; MACS: magnetic-activated cells sorting; FACS: fluorescence-activated cells sorting. 29193985 2018
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
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin 		0.100 Biomarker phenotype HPO
CUI: C0241703
Disease: High pitched voice
High pitched voice 		0.100 Biomarker phenotype HPO
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.100 Biomarker disease HPO