Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		AMMECR nuclear protein 1 0.659 0.692 0.82
CUI: C4310810
Disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS 		disease 0.700 strong 1.000 0 3 2017 2017
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		AMMECR nuclear protein 1 0.659 0.692 0.82
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.400 strong 1.000 0 3 2017 2017
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		AMMECR nuclear protein 1 0.659 0.692 0.82
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 1 2019 2019
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		AMMECR nuclear protein 1 0.659 0.692 0.82
CUI: C0151746
Disease: Abnormal renal function
Abnormal renal function 		phenotype 0.100 None 0 1
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		AMMECR nuclear protein 1 0.659 0.692 0.82
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.100 None 0 2
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		AMMECR nuclear protein 1 0.659 0.692 0.82
CUI: C2673410
Disease: Small midface
Small midface 		phenotype 0.100 None 0 2
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		AMMECR nuclear protein 1 0.659 0.692 0.82
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		disease 0.100 None 0 2
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		AMMECR nuclear protein 1 0.659 0.692 0.82
CUI: C4021866
Disease: obsolete Abnormal heart morphology
obsolete Abnormal heart morphology 		phenotype 0.100 None 0 2