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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Retinal Dystrophies (D058499)
..Starting node ..CONE-ROD DYSTROPHY 9 (OMIM:612775)
Child Nodes:
Sister Nodes:
..Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism (C565850)
..CONE-ROD DYSTROPHY 15 (OMIM:613660)
..CONE-ROD DYSTROPHY 9 (OMIM:612775)
..CONE-ROD DYSTROPHY, X-LINKED, 1 (OMIM:304020)
..Ghose Sachdev Kumar syndrome (C537803)
..Patterned dystrophy of retinal pigment epithelium (C536309)
..Reticular Dystrophy Of Retinal Pigment Epithelium (C566721)
..Retinal Dystrophy, Early Onset Severe (C565741)
..Retinal Dystrophy, Reticular Pigmentary, of Posterior Pole (C564844)
..Retinitis Pigmentosa (D012174) 132
..Retinopathy, Pericentral Pigmentary, Dominant (C566713)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2583

Name:

CONE-ROD DYSTROPHY 9

Definition:

Alternative IDs:

ParentIDs:

MESH:D058499

TreeNumbers:

C11.768.585.658/612775

Synonyms:

CORD9

Slim Mappings:

Eye disease

Reference:

MedGen: 612775
MeSH: 612775
OMIM: 612775;

Genes: ADAM9;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000548	Cone/cone-rod dystrophy
3	HP:0000505	Visual impairment

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_003816.2(ADAM9):c.411-8A>G	8754	ADAM9	Pathogenic	786205086	RCV000007282;	N	MedGen:C1423873,OMIM:612775	8	38874730	38874730	NM_003816.2:c.411-8A>G		NC_000008.10:g.38874730A>G	OMIM Allelic Variant:602713.0004	C1423873 612775 Cone-rod dystrophy 9
NM_003816.2(ADAM9):c.490C>T (p.Arg164Ter)	8754	ADAM9	Pathogenic	137853041	RCV000007281;	N	MedGen:C1423873,OMIM:612775	8	38874817	38874817	NM_003816.2:c.490C>T	NP_003807.1:p.Arg164Ter	NC_000008.10:g.38874817C>T	OMIM Allelic Variant:602713.0003	C1423873 612775 Cone-rod dystrophy 9
NM_003816.2(ADAM9):c.766C>T (p.Arg256Ter)	8754	ADAM9	Pathogenic	137853040	RCV000007280;	N	MedGen:C1423873,OMIM:612775	8	38880696	38880696	NM_003816.2:c.766C>T	NP_003807.1:p.Arg256Ter	NC_000008.10:g.38880696C>T	OMIM Allelic Variant:602713.0002	C1423873 612775 Cone-rod dystrophy 9
NM_003816.2(ADAM9):c.1130+1G>A	8754	ADAM9	Pathogenic	786205085	RCV000007279;	N	MedGen:C1423873,OMIM:612775	8	38884330	38884330	NM_003816.2:c.1130+1G>A		NC_000008.10:g.38884330G>A	OMIM Allelic Variant:602713.0001	C1423873 612775 Cone-rod dystrophy 9
NM_003816.2(ADAM9):c.1396-2A>G	8754	ADAM9	Pathogenic	786205151	RCV000170309;	N	MedGen:C1423873,OMIM:612775	8	38913094	38913094	NM_003816.2:c.1396-2A>G		NC_000008.10:g.38913094A>G	OMIM Allelic Variant:602713.0005	C1423873 612775 Cone-rod dystrophy 9