AMMECR1, AMMECR nuclear protein 1, 9949

N. diseases: 64; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519337
rs1057519337
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1
CUI: C4310810
Disease:
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS 		0.800 GeneticVariation UNIPROT
dbSNP: rs1057519337
rs1057519337
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1
CUI: C4310810
Disease:
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1057519338
rs1057519338
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1
CUI: C1384666
Disease:
hearing impairment 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057519338
rs1057519338
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1
CUI: C0557874
Disease:
Global developmental delay 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057519338
rs1057519338
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1
CUI: C2673410
Disease:
Small midface 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057519338
rs1057519338
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1
CUI: C0349588
Disease:
Short stature 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057519338
rs1057519338
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1
CUI: C0151746
Disease:
Abnormal renal function 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057519338
rs1057519338
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1
CUI: C4021866
Disease:
obsolete Abnormal heart morphology 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057519338
rs1057519338
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1
CUI: C4021790
Disease:
Abnormality of the skeletal system 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057519338
rs1057519338
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1
CUI: C4310810
Disease:
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1569405174
rs1569405174
Entrez Id: 9949;105373312
Gene Symbol: AMMECR1;LOC105373312
AMMECR1;LOC105373312
CUI: C0349588
Disease:
Short stature 		C 0.700 CausalMutation CLINVAR
dbSNP: rs765498367
rs765498367
Entrez Id: 9949;105373312
Gene Symbol: AMMECR1;LOC105373312
AMMECR1;LOC105373312
CUI: C4310810
Disease:
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS 		T 0.700 CausalMutation CLINVAR
dbSNP: rs765498367
rs765498367
Entrez Id: 9949;105373312
Gene Symbol: AMMECR1;LOC105373312
AMMECR1;LOC105373312
CUI: C4021790
Disease:
Abnormality of the skeletal system 		T 0.700 CausalMutation CLINVAR
dbSNP: rs765498367
rs765498367
Entrez Id: 9949;105373312
Gene Symbol: AMMECR1;LOC105373312
AMMECR1;LOC105373312
CUI: C4021866
Disease:
obsolete Abnormal heart morphology 		T 0.700 CausalMutation CLINVAR
dbSNP: rs765498367
rs765498367
Entrez Id: 9949;105373312
Gene Symbol: AMMECR1;LOC105373312
AMMECR1;LOC105373312
CUI: C0349588
Disease:
Short stature 		T 0.700 CausalMutation CLINVAR
dbSNP: rs765498367
rs765498367
Entrez Id: 9949;105373312
Gene Symbol: AMMECR1;LOC105373312
AMMECR1;LOC105373312
CUI: C1384666
Disease:
hearing impairment 		T 0.700 CausalMutation CLINVAR
dbSNP: rs765498367
rs765498367
Entrez Id: 9949;105373312
Gene Symbol: AMMECR1;LOC105373312
AMMECR1;LOC105373312
CUI: C2673410
Disease:
Small midface 		T 0.700 CausalMutation CLINVAR