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: 139285
Gene Symbol: AMER1
AMER1 		APC membrane recruitment protein 1 0.570 0.654 0.85
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		disease 0.400 strong 0 0
Entrez Id: 139285
Gene Symbol: AMER1
AMER1 		APC membrane recruitment protein 1 0.570 0.654 0.85
CUI: C0265513
Disease: Osteopathia striata
Osteopathia striata 		disease 0.110 None 1.000 0 0 2012 2012
Entrez Id: 139285
Gene Symbol: AMER1
AMER1 		APC membrane recruitment protein 1 0.570 0.654 0.85
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.110 None 1.000 0 0 2013 2013
Entrez Id: 139285
Gene Symbol: AMER1
AMER1 		APC membrane recruitment protein 1 0.570 0.654 0.85
CUI: C1406835
Disease: Flexion contracture of toe
Flexion contracture of toe 		phenotype 0.100 None 0 0
Entrez Id: 139285
Gene Symbol: AMER1
AMER1 		APC membrane recruitment protein 1 0.570 0.654 0.85
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		phenotype 0.100 None 0 0
Entrez Id: 139285
Gene Symbol: AMER1
AMER1 		APC membrane recruitment protein 1 0.570 0.654 0.85
CUI: C1832119
Disease: Fibular hypoplasia
Fibular hypoplasia 		phenotype 0.100 None 0 0
Entrez Id: 139285
Gene Symbol: AMER1
AMER1 		APC membrane recruitment protein 1 0.570 0.654 0.85
CUI: C1836186
Disease: Fibular aplasia
Fibular aplasia 		phenotype 0.100 None 0 0
Entrez Id: 139285
Gene Symbol: AMER1
AMER1 		APC membrane recruitment protein 1 0.570 0.654 0.85
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype 0.100 None 0 0
Entrez Id: 139285
Gene Symbol: AMER1
AMER1 		APC membrane recruitment protein 1 0.570 0.654 0.85
CUI: C1837402
Disease: Flat occiput
Flat occiput 		phenotype 0.100 None 0 0
Entrez Id: 139285
Gene Symbol: AMER1
AMER1 		APC membrane recruitment protein 1 0.570 0.654 0.85
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		phenotype 0.100 None 0 0
Entrez Id: 139285
Gene Symbol: AMER1
AMER1 		APC membrane recruitment protein 1 0.570 0.654 0.85
CUI: C1837731
Disease: Overfolded helix
Overfolded helix 		phenotype 0.100 None 0 0
Entrez Id: 139285
Gene Symbol: AMER1
AMER1 		APC membrane recruitment protein 1 0.570 0.654 0.85
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		phenotype 0.100 None 0 0
Entrez Id: 139285
Gene Symbol: AMER1
AMER1 		APC membrane recruitment protein 1 0.570 0.654 0.85
CUI: C0973461
Disease: Dysphasia
Dysphasia 		disease 0.100 None 0 0
Entrez Id: 139285
Gene Symbol: AMER1
AMER1 		APC membrane recruitment protein 1 0.570 0.654 0.85
CUI: C0948187
Disease: Tracheomalacia
Tracheomalacia 		disease 0.100 None 0 0
Entrez Id: 139285
Gene Symbol: AMER1
AMER1 		APC membrane recruitment protein 1 0.570 0.654 0.85
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		disease 0.100 None 0 0
Entrez Id: 139285
Gene Symbol: AMER1
AMER1 		APC membrane recruitment protein 1 0.570 0.654 0.85
CUI: C0281890
Disease: Laryngeal web
Laryngeal web 		disease 0.100 None 0 0
Entrez Id: 139285
Gene Symbol: AMER1
AMER1 		APC membrane recruitment protein 1 0.570 0.654 0.85
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 0
Entrez Id: 139285
Gene Symbol: AMER1
AMER1 		APC membrane recruitment protein 1 0.570 0.654 0.85
CUI: C0431368
Disease: Partial agenesis of corpus callosum
Partial agenesis of corpus callosum 		disease 0.100 None 0 0
Entrez Id: 139285
Gene Symbol: AMER1
AMER1 		APC membrane recruitment protein 1 0.570 0.654 0.85
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		disease 0.100 None 0 0
Entrez Id: 139285
Gene Symbol: AMER1
AMER1 		APC membrane recruitment protein 1 0.570 0.654 0.85
CUI: C0432103
Disease: Submucous cleft of hard palate
Submucous cleft of hard palate 		disease 0.100 None 0 0
Entrez Id: 139285
Gene Symbol: AMER1
AMER1 		APC membrane recruitment protein 1 0.570 0.654 0.85
CUI: C0456132
Disease: Large fontanelle
Large fontanelle 		phenotype 0.100 None 0 0
Entrez Id: 139285
Gene Symbol: AMER1
AMER1 		APC membrane recruitment protein 1 0.570 0.654 0.85
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 139285
Gene Symbol: AMER1
AMER1 		APC membrane recruitment protein 1 0.570 0.654 0.85
CUI: C0566620
Disease: Nasal voice
Nasal voice 		phenotype 0.100 None 0 0
Entrez Id: 139285
Gene Symbol: AMER1
AMER1 		APC membrane recruitment protein 1 0.570 0.654 0.85
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease 0.100 None 0 0
Entrez Id: 139285
Gene Symbol: AMER1
AMER1 		APC membrane recruitment protein 1 0.570 0.654 0.85
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		phenotype 0.100 None 0 0