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: C0151746
Disease: Abnormal renal function
Abnormal renal function 		0.100 CausalMutation phenotype CLINVAR
CUI: C3164445
Disease: Abnormality of aortic valve
Abnormality of aortic valve 		0.100 Biomarker disease HPO
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		0.100 Biomarker disease HPO
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.100 CausalMutation disease CLINVAR
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		0.010 Biomarker disease BEFREE In these cases, AMMECR1 gene appears to be responsible for most of the clinical features of the AMME syndrome except for Alport syndrome. 30737907 2019
CUI: C1846242
Disease: Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis 		0.330 Biomarker disease BEFREE In these cases, AMMECR1 gene appears to be responsible for most of the clinical features of the AMME syndrome except for Alport syndrome. 30737907 2019
CUI: C1846242
Disease: Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis 		0.330 GermlineCausalMutation disease ORPHANET AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis. 27811305 2017
CUI: C1846242
Disease: Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis 		0.330 ChromosomalRearrangement disease ORPHANET AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis. 27811305 2017
CUI: C1846242
Disease: Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis 		0.330 ChromosomalRearrangement disease ORPHANET Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) contiguous gene deletion syndrome (AMME). 10049589 1999
CUI: C1846242
Disease: Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis 		0.330 Biomarker disease BEFREE Identification and characterization of mouse orthologs of the AMMECR1 and FACL4 genes deleted in AMME syndrome: orthology of Xq22.3 and MmuXF1-F3. 10828604 2000
CUI: C1846242
Disease: Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis 		0.330 GeneticVariation disease BEFREE AMMECR1 gene is localized in the critical region of contiguous deletion syndrome on Xq22.3 implicated in Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME complex). 28089922 2017
CUI: C0002871
Disease: Anemia
Anemia 		0.010 GeneticVariation disease BEFREE In this study, we report a family with X-linked recessive syndrome caused by mutated AMMECR1 and characterized by elliptocytosis with or without anemia, midface hypoplasia, proportionate short stature and hearing loss. 28089922 2017
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 Biomarker phenotype HPO
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		0.100 Biomarker disease HPO
CUI: C1850630
Disease: Broad distal phalanx of finger
Broad distal phalanx of finger 		0.100 Biomarker phenotype HPO
CUI: C1849089
Disease: Broad forehead
Broad forehead 		0.100 Biomarker phenotype HPO
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma 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: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 Biomarker disease HPO
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.100 Biomarker disease HPO
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.100 Biomarker phenotype HPO
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.010 Biomarker phenotype BEFREE These cases reporting the smallest microdeletions encompassing AMMECR1 gene provide new evidence for involvement of AMMECR1 in the AMME phenotype and permit to discuss a phenotype related to AMMECR1 haploinsufficiency: developmental delay/intellectual deficiency, midface hypoplasia, midline defect, deafness, and short stature. 30737907 2019
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 Biomarker phenotype HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.410 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.410 Biomarker disease GENOMICS_ENGLAND AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis. 27811305 2017
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.410 Biomarker disease BEFREE These cases reporting the smallest microdeletions encompassing AMMECR1 gene provide new evidence for involvement of AMMECR1 in the AMME phenotype and permit to discuss a phenotype related to AMMECR1 haploinsufficiency: developmental delay/intellectual deficiency, midface hypoplasia, midline defect, deafness, and short stature. 30737907 2019