MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
Parent Node:
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Macular Degeneration (D008268)
..Starting node
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MACULAR DEGENERATION, AGE-RELATED, 14 (OMIM:615489)

       Child Nodes:



 Sister Nodes: 
..expandEctodermal dysplasia, ectrodactyly, and macular dystrophy (C536190)
..expandFundus Dystrophy, Pseudoinflammatory, Of Sorsby (C564992)
..expandGeographic Atrophy (D057092)
..expandJuvenile macular degeneration and hypotrichosis (C537698)
..expandMacular Degeneration, Age-Related, 1 (C566411)
..expandMacular Degeneration, Age-Related, 10 (C566935)
..expandMacular Degeneration, Age-Related, 11 (C567450)
..expandMACULAR DEGENERATION, AGE-RELATED, 12 (OMIM:613784)
..expandMACULAR DEGENERATION, AGE-RELATED, 13 (OMIM:615439)
..expandMACULAR DEGENERATION, AGE-RELATED, 14 (OMIM:615489)
..expandMACULAR DEGENERATION, AGE-RELATED, 15 (OMIM:615591)
..expandMacular Degeneration, Age-Related, 2 (C562479)
..expandMacular Degeneration, Age-Related, 3 (C563838)
..expandMacular Degeneration, Age-Related, 4 (C565196)
..expandMACULAR DEGENERATION, AGE-RELATED, 5 (OMIM:613761)
..expandMacular Degeneration, Age-Related, 6 (C563674)
..expandMacular Degeneration, Age-Related, 7 (C565718)
..expandMACULAR DEGENERATION, AGE-RELATED, 8 (OMIM:613778)
..expandMacular Degeneration, Age-Related, 9 (C566958)
..expandMACULAR DEGENERATION, EARLY-ONSET (OMIM:616118)
..expandMACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT (OMIM:616170)
..expandMacular dystrophy, concentric annular (C537833)
..expandMACULAR DYSTROPHY, RETINAL, 3 (OMIM:608850)
..expandMacular Dystrophy, X-Linked (C564110)
..expandMacular Edema (D008269)
..expandMyoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders (C565786)
..expandOCCULT MACULAR DYSTROPHY (OMIM:613587)
..expandStargardt disease 1 (C535804)
..expandStargardt disease 3 (C535805)
..expandStargardt disease 4 (C535521)
..expandStargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features (C548086)
..expandVitelliform Macular Dystrophy (D057826) Child2
..expandWet Macular Degeneration (D057135)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:7318
Name:MACULAR DEGENERATION, AGE-RELATED, 14
Definition:
Alternative IDs:DO:DOID:0110026
ParentIDs:MESH:D008268
TreeNumbers:C11.768.585.439/615489
Synonyms:ARMD14 |MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF, INCLUDED
Slim Mappings:Eye disease
Reference: MedGen: 615489
MeSH: 615489
OMIM: 615489;
MSeqDR LSDB:  
Genes: CFB; MPV17;
Phenotypes
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000063.5(C2):c.954G>C (p.Glu318Asp)717C2Conflicting interpretations of pathogenicity9332739RCV000012913; RCV000304426; RCV000394631; RCV000454375; NMedGen:C3809653,OMIM:615489; MedGen:C3150275,OMIM:217000; Human Phenotype Ontology:HP:0000608,MedGen:C0024437,SNOMED CT:422338006; MedGen:CN16937463190380431903804OMIM Allelic Variant:613927.0004,UniProtKB (protein):P06681#VAR_019158C3809653 615489 Age-related macular degeneration 14;
NM_000063.6(C2):c.988+5G>A717C2Uncertain significance-1RCV000767910; RCV000767910; NMedGen:C3809653,OMIM:615489; MedGen:C3150275,OMIM:21700063190384331903843-
NM_000063.5(C2):c.1360+62G>T717C2protective547154RCV000012914; NMedGen:C3809653,OMIM:61548963191093831910938OMIM Allelic Variant:613927.0005C3809653 615489 Age-related macular degeneration 14;
NM_001710.5(CFB):c.26T>A (p.Leu9His)-1C2;CFBConflicting interpretations of pathogenicity4151667RCV000017457; RCV000264554; RCV000385220; RCV000288622; RCV000454952; NMedGen:C3809653,OMIM:615489; MedGen:C2931788, Orphanet:ORPHA2134; MedGen:C3150275,OMIM:217000; Human Phenotype Ontology:HP:0000608,MedGen:C0024437,SNOMED CT:422338006; MedGen:CN16937463191402431914024OMIM Allelic Variant:138470.0003,UniProtKB (protein):P00751#VAR_016274C3809653 615489 Age-related macular degeneration 14;
NM_001710.5(CFB):c.95G>A (p.Arg32Gln)-1C2;CFBBenign/Likely benign, protective641153RCV000017458; RCV000259759; RCV000017454; RCV000281261; RCV000017453; RCV000319518; RCV000455762; NMedGen:C3809653,OMIM:615489; MedGen:C2931788, Orphanet:ORPHA2134; na; MedGen:C3150275,OMIM:217000; na; Human Phenotype Ontology:HP:0000608,MedGen:C0024437,SNOMED CT:422338006; MedGen:CN16937463191418031914180OMIM Allelic Variant:138470.0001,OMIM Allelic Variant:138470.0004,UniProtKB (protein):P00751#VAR_006494C3809653 615489 Age-related macular degeneration 14;
MSeqDR Portal