AMMECR1, AMMECR nuclear protein 1, 9949

N. diseases: 64; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		0.100 Biomarker phenotype HPO
CUI: C0040457
Disease: Tooth, Supernumerary
Tooth, Supernumerary 		0.100 Biomarker phenotype HPO
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding 		0.100 Biomarker phenotype HPO
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		0.100 Biomarker phenotype HPO
CUI: C0578038
Disease: Thin lips
Thin lips 		0.100 Biomarker phenotype HPO
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		0.100 Biomarker phenotype HPO
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		0.100 Biomarker phenotype HPO
CUI: C1301937
Disease: Talipes
Talipes 		0.100 Biomarker disease HPO
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO
CUI: C2673410
Disease: Small midface
Small midface 		0.100 CausalMutation phenotype CLINVAR
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.400 Biomarker phenotype GENOMICS_ENGLAND AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis. 27811305 2017
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.400 Biomarker phenotype HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.400 Biomarker phenotype GENOMICS_ENGLAND AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis. 27811305 2017
CUI: C0349588
Disease: Short stature
Short stature 		0.400 CausalMutation phenotype CLINVAR
CUI: C0349588
Disease: Short stature
Short stature 		0.400 Biomarker phenotype HPO
CUI: C0521525
Disease: Short neck
Short neck 		0.100 Biomarker phenotype HPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.100 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.100 Biomarker disease HPO
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease 		0.100 Biomarker group HPO
CUI: C0033687
Disease: Proteinuria
Proteinuria 		0.100 Biomarker phenotype HPO
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 Biomarker disease BEFREE The aim of this study was to characterize the role of Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis chromosomal region gene 1 (AMMECR1) in human lung cancer cell lines. 31519561 2019
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.100 Biomarker disease HPO
CUI: C4021866
Disease: obsolete Abnormal heart morphology
obsolete Abnormal heart morphology 		0.100 CausalMutation phenotype CLINVAR
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 Biomarker disease BEFREE AMMECR1 plays a critical role in cell proliferation, cell-cycle progression, and apoptosis of human lung cancer cells, and may serve as a potential therapeutic target for non-small-cell lung cancer. 31519561 2019