Source: HPO

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: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.410 strong 1.000 0 0 2017 2019
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 0 2017 2017
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		AMMECR nuclear protein 1 0.659 0.692 0.82
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype 0.400 strong 1.000 0 0 2017 2017
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		AMMECR nuclear protein 1 0.659 0.692 0.82
CUI: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary 		disease 0.130 None 1.000 0 0 2017 2019
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		AMMECR nuclear protein 1 0.659 0.692 0.82
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.110 None 1.000 0 0 2019 2019
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		AMMECR nuclear protein 1 0.659 0.692 0.82
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis 		disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		AMMECR nuclear protein 1 0.659 0.692 0.82
CUI: C1839783
Disease: Large forehead
Large forehead 		phenotype 0.100 None 0 0
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		AMMECR nuclear protein 1 0.659 0.692 0.82
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		phenotype 0.100 None 0 0
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		AMMECR nuclear protein 1 0.659 0.692 0.82
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype 0.100 None 0 0
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		AMMECR nuclear protein 1 0.659 0.692 0.82
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		AMMECR nuclear protein 1 0.659 0.692 0.82
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		disease 0.100 None 0 0
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 0
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		AMMECR nuclear protein 1 0.659 0.692 0.82
CUI: C1301937
Disease: Talipes
Talipes 		disease 0.100 None 0 0
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		AMMECR nuclear protein 1 0.659 0.692 0.82
CUI: C0578038
Disease: Thin lips
Thin lips 		phenotype 0.100 None 0 0
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		AMMECR nuclear protein 1 0.659 0.692 0.82
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype 0.100 None 0 0
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		AMMECR nuclear protein 1 0.659 0.692 0.82
CUI: C1849089
Disease: Broad forehead
Broad forehead 		phenotype 0.100 None 0 0
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		AMMECR nuclear protein 1 0.659 0.692 0.82
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease 0.100 None 0 0
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		AMMECR nuclear protein 1 0.659 0.692 0.82
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		disease 0.100 None 0 0
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		AMMECR nuclear protein 1 0.659 0.692 0.82
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		phenotype 0.100 None 0 0
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		AMMECR nuclear protein 1 0.659 0.692 0.82
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		disease 0.100 None 0 0
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		AMMECR nuclear protein 1 0.659 0.692 0.82
CUI: C3164445
Disease: Abnormality of aortic valve
Abnormality of aortic valve 		disease 0.100 None 0 0
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		AMMECR nuclear protein 1 0.659 0.692 0.82
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		phenotype 0.100 None 0 0
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		AMMECR nuclear protein 1 0.659 0.692 0.82
CUI: C1858085
Disease: Malar flattening
Malar flattening 		disease 0.100 None 0 0
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		AMMECR nuclear protein 1 0.659 0.692 0.82
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		phenotype 0.100 None 0 0
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		AMMECR nuclear protein 1 0.659 0.692 0.82
CUI: C1853241
Disease: Flat face
Flat face 		phenotype 0.100 None 0 0