CTU2, cytosolic thiouridylase subunit 2, 348180

N. diseases: 38; N. variants: 7
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587776988
rs587776988
Entrez Id: 9780;348180;100616167
Gene Symbol: PIEZO1;CTU2;MIR4722
PIEZO1;CTU2;MIR4722
CUI: C4551512
Disease:
DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA 		0.800 GeneticVariation UNIPROT
dbSNP: rs587776988
rs587776988
Entrez Id: 9780;348180;100616167
Gene Symbol: PIEZO1;CTU2;MIR4722
PIEZO1;CTU2;MIR4722
CUI: C4551512
Disease:
DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA 		T 0.800 CausalMutation CLINVAR
dbSNP: rs61745086
rs61745086
Entrez Id: 9780;348180
Gene Symbol: PIEZO1;CTU2
PIEZO1;CTU2
CUI: C0206161
Disease:
Reticulocyte count (procedure) 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs577860843
rs577860843
Entrez Id: 9780;348180;100616167
Gene Symbol: PIEZO1;CTU2;MIR4722
PIEZO1;CTU2;MIR4722
CUI: C4225184
Disease:
LYMPHATIC MALFORMATION 6 		0.700 GeneticVariation UNIPROT Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis. 26333996 2015
dbSNP: rs8052560
rs8052560
Entrez Id: 348180
Gene Symbol: CTU2
CTU2
CUI: C0005890
Disease:
Body Height 		A 0.700 GeneticVariation GWASCAT Hundreds of variants clustered in genomic loci and biological pathways affect human height. 20881960 2010
dbSNP: rs8052560
rs8052560
Entrez Id: 348180
Gene Symbol: CTU2
CTU2
CUI: C0489786
Disease:
Height 		A 0.700 GeneticVariation GWASDB Hundreds of variants clustered in genomic loci and biological pathways affect human height. 20881960 2010
dbSNP: rs587776992
rs587776992
Entrez Id: 9780;348180
Gene Symbol: PIEZO1;CTU2
PIEZO1;CTU2
CUI: C4551512
Disease:
DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA 		CCTCCAG 0.700 CausalMutation CLINVAR
dbSNP: rs749288233
rs749288233
Entrez Id: 9780;348180
Gene Symbol: PIEZO1;CTU2
PIEZO1;CTU2
CUI: C4551512
Disease:
DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA 		0.700 GeneticVariation UNIPROT
dbSNP: rs769481947
rs769481947
Entrez Id: 348180
Gene Symbol: CTU2
CTU2
CUI: C4748348
Disease:
MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME 		A 0.700 CausalMutation CLINVAR
dbSNP: rs749288233
rs749288233
Entrez Id: 9780;348180
Gene Symbol: PIEZO1;CTU2
PIEZO1;CTU2
CUI: C0272051
Disease:
Xerocytosis 		0.010 GeneticVariation BEFREE Functional studies of PIEZO1 mutant R2488Q expressed in Xenopus oocytes demonstrated changes in ion-channel activity consistent with the altered cation content of DHSt patient red cells. 23479567 2013