RTTN, rotatin, 25914

N. diseases: 100; N. variants: 11
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs145037750
rs145037750
Entrez Id: 25914
Gene Symbol: RTTN
RTTN
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs185898
rs185898
Entrez Id: 25914
Gene Symbol: RTTN
RTTN
CUI: C0200665
Disease:
Platelet mean volume determination (procedure) 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs185898
rs185898
Entrez Id: 25914
Gene Symbol: RTTN
RTTN
CUI: C3828530
Disease:
Platelet Component Distribution Width Measurement 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs318240757
rs318240757
Entrez Id: 25914
Gene Symbol: RTTN
RTTN
CUI: C3553831
Disease:
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES 		0.700 GeneticVariation UNIPROT RTTN mutations link primary cilia function to organization of the human cerebral cortex. 22939636 2012
dbSNP: rs1256028809
rs1256028809
Entrez Id: 25914
Gene Symbol: RTTN
RTTN
CUI: C3553831
Disease:
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1256028809
rs1256028809
Entrez Id: 25914
Gene Symbol: RTTN
RTTN
CUI: C3150077
Disease:
Mild short stature 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1256028809
rs1256028809
Entrez Id: 25914
Gene Symbol: RTTN
RTTN
CUI: C0151786
Disease:
Muscle Weakness 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1256028809
rs1256028809
Entrez Id: 25914
Gene Symbol: RTTN
RTTN
CUI: C1843367
Disease:
Poor school performance 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1256028809
rs1256028809
Entrez Id: 25914
Gene Symbol: RTTN
RTTN
CUI: C1836806
Disease:
Mild microcephaly 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555707336
rs1555707336
Entrez Id: 25914
Gene Symbol: RTTN
RTTN
CUI: C4225499
Disease:
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES 		T 0.700 CausalMutation CLINVAR
dbSNP: rs201884120
rs201884120
Entrez Id: 25914;105372180
Gene Symbol: RTTN;LOC105372180
RTTN;LOC105372180
CUI: C3553831
Disease:
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES 		0.700 GeneticVariation UNIPROT
dbSNP: rs318240757
rs318240757
Entrez Id: 25914
Gene Symbol: RTTN
RTTN
CUI: C4225499
Disease:
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES 		A 0.700 CausalMutation CLINVAR
dbSNP: rs775277800
rs775277800
Entrez Id: 25914
Gene Symbol: RTTN
RTTN
CUI: C3553831
Disease:
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES 		G 0.700 CausalMutation CLINVAR
dbSNP: rs775277800
rs775277800
Entrez Id: 25914
Gene Symbol: RTTN
RTTN
CUI: C2677180
Disease:
Congenital microcephaly 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs780270096
rs780270096
Entrez Id: 25914
Gene Symbol: RTTN
RTTN
CUI: C2677180
Disease:
Congenital microcephaly 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs780270096
rs780270096
Entrez Id: 25914
Gene Symbol: RTTN
RTTN
CUI: C3553831
Disease:
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES 		C 0.700 CausalMutation CLINVAR
dbSNP: rs864321620
rs864321620
Entrez Id: 25914
Gene Symbol: RTTN
RTTN
CUI: C2677180
Disease:
Congenital microcephaly 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs864321620
rs864321620
Entrez Id: 25914
Gene Symbol: RTTN
RTTN
CUI: C3553831
Disease:
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES 		C 0.700 CausalMutation CLINVAR
dbSNP: rs864321621
rs864321621
Entrez Id: 25914
Gene Symbol: RTTN
RTTN
CUI: C3553831
Disease:
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES 		G 0.700 CausalMutation CLINVAR
dbSNP: rs864321621
rs864321621
Entrez Id: 25914
Gene Symbol: RTTN
RTTN
CUI: C2677180
Disease:
Congenital microcephaly 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs775277800
rs775277800
Entrez Id: 25914
Gene Symbol: RTTN
RTTN
CUI: C0431350
Disease:
Primary microcephaly 		0.010 GeneticVariation BEFREE These findings reveal that RTTN contributes to building full-length centrioles and illuminate the molecular mechanism through which the RTTN (A578P) mutation causes primary microcephaly.Mutations in many centriolar protein-encoding genes cause primary microcephaly. 28811500 2017
dbSNP: rs775277800
rs775277800
Entrez Id: 25914
Gene Symbol: RTTN
RTTN
CUI: C0025958
Disease:
Microcephaly 		0.010 GeneticVariation BEFREE Interestingly, the naturally occurring microcephaly-associated mutant, RTTN (A578P), shows a low affinity for STIL binding and blocks centriole assembly. 28811500 2017
dbSNP: rs141156594
rs141156594
Entrez Id: 25914
Gene Symbol: RTTN
RTTN
CUI: C0022548
Disease:
Keloid 		0.010 GeneticVariation BEFREE rs181924090 (11p15.5, SIRT3), rs151091483 (17p13.1, MYH8), and rs183178644 (6p25.3, HUS1B) are new potential SNPs associated with KD formation, especially closely related to tumor behaviors as KD is, whereas rs141156594 (18q22.2, RTTN) is a new SNP involved in the extracellular matrix formation in wound healing. 25305228 2015
dbSNP: rs141156594
rs141156594
Entrez Id: 25914
Gene Symbol: RTTN
RTTN
CUI: C0162810
Disease:
Cicatrix, Hypertrophic 		0.010 GeneticVariation BEFREE However, at rs141156594, there was no significant association between KD and HS (P = 0.7893). 25305228 2015