Disease browser and phenotype portal

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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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Retinal Dystrophies (D058499)
..Starting node ..CONE-ROD DYSTROPHY, X-LINKED, 1 (OMIM:304020)
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:

2585

Name:

CONE-ROD DYSTROPHY, X-LINKED, 1

Definition:

Alternative IDs:

ParentIDs:

MESH:D058499

TreeNumbers:

C11.768.585.658/304020

Synonyms:

COD1 |CONE DYSTROPHY 1, X-LINKED |CORDX1

Slim Mappings:

Eye disease

Reference:

MedGen: 304020
MeSH: 304020
OMIM: 304020;

Genes: RPGR;

Phenotypes

1	HP:0001939	Abnormality of metabolism/homeostasis
2	HP:0000548	Cone/cone-rod dystrophy
3	HP:0030637	Congenital stationary cone dysfunction
4	HP:0200056	Macular scar
5	HP:0000545	Myopia
6	HP:0000639	Nystagmus
7	HP:0000613	Photophobia
8	HP:0007663	Reduced visual acuity
9	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_001034853.1(RPGR):c.3178_3179delGA (p.Glu1060Argfs)	6103	RPGR	Likely pathogenic	771214648	RCV000198843;	N	MedGen:C1844776,OMIM:304020	X	38145073	38145074	NM_001034853.1:c.3178_3179delGA	NP_001030025.1:p.Glu1060Argfs	NC_000023.10:g.38145073_38145074delTC	-	C1844776 304020 Cone-rod dystrophy, X-linked 1
NM_001034853.1(RPGR):c.3096_3097delGG (p.Glu1033Argfs)	6103	RPGR	Pathogenic	606231180	RCV000010588;	N	MedGen:C1844776,OMIM:304020	X	38145155	38145156	NM_001034853.1:c.3096_3097delGG	NP_001030025.1:p.Glu1033Argfs	NC_000023.10:g.38145155_38145156delCC	OMIM Allelic Variant:312610.0014	C1844776 304020 Cone-rod dystrophy, X-linked 1
NM_001034853.1(RPGR):c.3092_3093delAG (p.Glu1031Glyfs)	6103	RPGR	Pathogenic	606231181	RCV000010589;	N	MedGen:C1844776,OMIM:304020	X	38145159	38145160	NM_001034853.1:c.3092_3093delAG	NP_001030025.1:p.Glu1031Glyfs	NC_000023.10:g.38145159_38145160delCT	OMIM Allelic Variant:312610.0015	C1844776 304020 Cone-rod dystrophy, X-linked 1
NM_001034853.1(RPGR):c.2929G>T (p.Gly977Ter)	6103	RPGR	Pathogenic	137852551	RCV000010596;	N	MedGen:C1844776,OMIM:304020	X	38145323	38145323	NM_001034853.1:c.2929G>T	NP_001030025.1:p.Gly977Ter	NC_000023.10:g.38145323C>A	OMIM Allelic Variant:312610.0022	C1844776 304020 Cone-rod dystrophy, X-linked 1
NM_001034853.1(RPGR):c.2847_2848delAGinsCT (p.Glu949_Glu950delinsAspTer)	6103	RPGR	Pathogenic	267607019	RCV000010595;	N	MedGen:C1844776,OMIM:304020	X	38145404	38145405	NM_001034853.1:c.2847_2848delAGinsCT	NP_001030025.1:p.Glu949_Glu950delinsAspTer	NC_000023.10:g.38145404_38145405delCTinsAG	OMIM Allelic Variant:312610.0021	C1844776 304020 Cone-rod dystrophy, X-linked 1