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: Diseases (C)
Parent Node: Mycobacterium tuberculosis, susceptibility to infection by (C536092)
Parent Node: Tuberculosis (D014376)
..Starting node ..MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (OMIM:607948)
Child Nodes:
Sister Nodes:
..Latent Tuberculosis (D055985)
..MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (OMIM:607948)
..MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 1 (OMIM:607949)
..MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 2 (OMIM:611046)
..MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, 3 (OMIM:612929)
..MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, X-LINKED (OMIM:300259)
..Peritonitis, Tuberculous (D014395)
..Tuberculoma (D014375) 1
..Tuberculosis, Avian (D014379)
..Tuberculosis, Bovine (D014380)
..Tuberculosis, Cardiovascular (D014381) 1
..Tuberculosis, Central Nervous System (D020306) 2
..Tuberculosis, Cutaneous (D014382) 2
..Tuberculosis, Endocrine (D014383)
..Tuberculosis, Gastrointestinal (D014385)
..Tuberculosis, Hepatic (D014386)
..Tuberculosis, Laryngeal (D014387)
..Tuberculosis, Lymph Node (D014388) 1
..Tuberculosis, Miliary (D014391)
..Tuberculosis, Multidrug-Resistant (D018088) 1
..Tuberculosis, Ocular (D014392)
..Tuberculosis, Oral (D014393)
..Tuberculosis, Osteoarticular (D014394) 1
..Tuberculosis, Pleural (D014396) 1
..Tuberculosis, Pulmonary (D014397) 1
..Tuberculosis, Splenic (D014400)
..Tuberculosis, Urogenital (D014401) 3
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7597

Name:

MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO

Definition:

Alternative IDs:

ParentIDs:

MESH:C536092|MESH:D014376

TreeNumbers:

C01.252.410.040.552.846/607948 |C01.252.410.040.552/C536092/607948 |C23.550.291.687/C536092/607948

Synonyms:

MYCOBACTERIUM TUBERCULOSIS, PROTECTION AGAINST, INCLUDED

Slim Mappings:

Bacterial infection or mycosis|Pathology (process)

Reference:

MedGen: 607948
MeSH: 607948
OMIM: 607948;

Genes: CCL2; CD209; CISH; IFNG; IFNGR1; IRGM; MC3R; SLC11A1; SP110; TIRAP; TLR2;

Phenotypes

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_080424.2(SP110):c.752-483C>T	-1	-	Uncertain significance	2114592	RCV000005878;	N	MedGen:C1834752,OMIM:607948	2	231075206	231075206	NM_080424.2:c.752-483C>T		NC_000002.11:g.231075206G>A	OMIM Allelic Variant:604457.0004	C1834752 607948 Mycobacterium tuberculosis, susceptibility to
NG_012123.1:g.2493A>G	6347	CCL2	Pathogenic;risk factor	1024611	RCV000015274; RCV000015271; RCV000015272; RCV000015273;	N	; MedGen:C1834750; MedGen:C1834751; MedGen:C1834752,OMIM:607948	17	32579788	32579788	-	-	NC_000017.10:g.32579788A>G	OMIM Allelic Variant:158105.0003	C1834751 Coronary artery disease, development of, in hiv; C1834750 Coronary artery disease, modifier of; C1834752 607948 Mycobacterium tuberculosis, susceptibility to
NM_000416.2(IFNGR1):c.260T>C (p.Ile87Thr)	3459	IFNGR1	Pathogenic;risk factor	104893973	RCV000144034; RCV000019539;	N	MedGen:C0694566,OMIM:209950,SNOMED CT:240413000; MedGen:C1834752,OMIM:607948	6	137527386	137527386	NM_000416.2:c.260T>C	NP_000407.1:p.Ile87Thr	NC_000006.11:g.137527386A>G	OMIM Allelic Variant:107470.0003	C0694566 209950 Disseminated atypical mycobacterial infection; C1834752 607948 Mycobacterium tuberculosis, susceptibility to
NM_080424.2(SP110):c.1274C= (p.Ser425=)	3431	SP110	Uncertain significance	3948464	RCV000005877;	N	MedGen:C1834752,OMIM:607948	2	231050715	231050715	NM_080424.2:c.1274C=	NP_536349.2:p.Ser425=	NC_000002.11:g.231050715A>G	OMIM Allelic Variant:604457.0003	C1834752 607948 Mycobacterium tuberculosis, susceptibility to
NM_003264.4(TLR2):c.2258G>A (p.Arg753Gln)	7097	TLR2	risk factor	5743708	RCV000033853;	N	MedGen:C1834752,OMIM:607948	4	154626317	154626317	NM_003264.4:c.2258G>A	NP_003255.2:p.Arg753Gln	NC_000004.11:g.154626317G>A	OMIM Allelic Variant:603028.0003	C1834752 607948 Mycobacterium tuberculosis, susceptibility to