Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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

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

Disease Browser
Parent Node: Intellectual Disability (D008607)
Parent Node: Renal Aminoacidurias (D000608)
..Starting node ..Dicarboxylicaminoaciduria (C536171)
Child Nodes:
Sister Nodes:
..Cystinuria (D003555) 3
..Dicarboxylicaminoaciduria (C536171)
..Finnish lethal neonatal metabolic syndrome (C537934)
..Hartnup Disease (D006250)
..Histidinuria renal tubular defect (C538321)
..Rowley-Rosenberg syndrome (C535874)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3353

Name:

Dicarboxylicaminoaciduria

Definition:

Alternative IDs:

OMIM:222730

ParentIDs:

MESH:D000608|MESH:D008607

TreeNumbers:

C10.597.606.643/C536171 |C12.777.419.815.885/C536171 |C13.351.968.419.815.885/C536171 |C16.320.565.861.885/C536171 |C18.452.648.861.885/C536171 |C23.888.592.604.646/C536171 |F03.550.600/C536171

Synonyms:

Slim Mappings:

Reference:

MedGen: C536171
MeSH: C536171
OMIM: 222730;

Genes: SLC1A1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003355	Aminoaciduria
3	HP:0003162	Fasting hypoglycemia
4	HP:0001249	Intellectual disability

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	Disease_hgmd
NM_004170.5(SLC1A1):c.1184_1186delTCA (p.Ile395del)	6505	SLC1A1	Pathogenic	587777697	RCV000143977;	N	MedGen:C1857253,OMIM:222730,ORPHA:2195	9	4576754	4576756	NM_004170.5:c.1184_1186delTCA	NP_004161.4:p.Ile395del		OMIM Allelic Variant:133550.0003	C1857253 222730 Dicarboxylic aminoaciduria
NM_004170.5(SLC1A1):c.1333C>T (p.Arg445Trp)	6505	SLC1A1	Pathogenic	587777696	RCV000143976;	N	MedGen:C1857253,OMIM:222730,ORPHA:2195	9	4585316	4585316	NM_004170.5:c.1333C>T	NP_004161.4:p.Arg445Trp	NC_000009.11:g.4585316C>T	OMIM Allelic Variant:133550.0002	C1857253 222730 Dicarboxylic aminoaciduria