MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation 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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Ehlers-Danlos Syndrome (D004535)
Parent Node: Periodontitis (D010518)
..Starting node ..EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 (OMIM:617174)
Child Nodes:
Sister Nodes:
..Aggressive Periodontitis (D010520)
..Chronic Periodontitis (D055113)
..EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 (OMIM:617174)
..Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome (C564357)
..Periapical Periodontitis (D010485) 2
..Periodontal Abscess (D010508)
..Periodontal Pocket (D010514)
..Periodontitis, Aggressive, 2 (C566946)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

4038

Name:

EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2

Definition:

Alternative IDs:

ParentIDs:

MESH:D004535|MESH:D010518

TreeNumbers:

C07.465.714.533/617174 |C14.907.454.240/617174 |C15.378.463.515.240/617174 |C16.131.831.428/617174 |C16.320.850.260/617174 |C17.300.200.310/617174 |C17.800.804.428/617174 |C17.800.827.260/617174

Synonyms:

EDSPD2

Slim Mappings:

Reference:

MedGen: 617174
MeSH: 617174
OMIM: 617174;
MSeqDR :
Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0002829	Arthralgia	HP:0040283
3	HP:0000978	Bruising susceptibility
4	HP:0001030	Fragile skin
5	HP:0000225	Gingival bleeding	HP:0040283
6	HP:0001382	Joint hypermobility	HP:0040283
7	HP:0001382	Joint hypermobility
8	HP:0002664	Neoplasm
9	HP:0002650	Scoliosis	HP:0040283

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_001733.7(C1R):c.1303T>C (p.Trp435Arg)	715	C1R	Pathogenic	1060499554	RCV000417057\|RCV000755122;	N	MONDO:MONDO:0020684,MedGen:C4551499,OMIM:130080, Orphanet:75392\|MONDO:MONDO:0014954,MedGen:C4310681,OMIM:617174	12	7189381	7189381	NC_000012.11:g.7189381A>G	ClinGen:CA16609344	C0268347 130080 Ehlers-Danlos syndrome, type 8;
NM_001733.7(C1R):c.1012T>C (p.Cys338Arg)	715	C1R	Pathogenic	1057519577	RCV000417066\|RCV000755117;	N	MONDO:MONDO:0020684,MedGen:C4551499,OMIM:130080, Orphanet:75392\|MONDO:MONDO:0014954,MedGen:C4310681,OMIM:617174	12	7241232	7241232	NC_000012.11:g.7241232A>G	ClinGen:CA16044362	C0268347 130080 Ehlers-Danlos syndrome, type 8;
NM_001733.7(C1R):c.927C>G (p.Cys309Trp)	715	C1R	Pathogenic	769707492	RCV000258072\|RCV000755116;	N	MONDO:MONDO:0020684,MedGen:C4551499,OMIM:130080, Orphanet:75392\|MONDO:MONDO:0014954,MedGen:C4310681,OMIM:617174	12	7241317	7241317	NC_000012.11:g.7241317G>C	ClinGen:CA10602475,OMIM:613785.0003
NM_001733.7(C1R):c.917_927delinsGGACA (p.Ile306_Cys309delinsArgThr)	715	C1R	Pathogenic	1057518646	RCV000258071\|RCV000755115;	N	MONDO:MONDO:0020684,MedGen:C4551499,OMIM:130080, Orphanet:75392\|MONDO:MONDO:0014954,MedGen:C4310681,OMIM:617174	12	7241317	7241327	NC_000012.11:g.7241317_7241327delinsTGTCC	ClinGen:CA10602476,OMIM:613785.0006	C0268347 130080 Ehlers-Danlos syndrome, type 8;
NM_001733.7(C1R):c.905A>G (p.Tyr302Cys)	715	C1R	Pathogenic	1057519576	RCV000417060\|RCV000755114;	N	MONDO:MONDO:0020684,MedGen:C4551499,OMIM:130080, Orphanet:75392\|MONDO:MONDO:0014954,MedGen:C4310681,OMIM:617174	12	7241446	7241446	NC_000012.11:g.7241446T>C	ClinGen:CA16044363	C0268347 130080 Ehlers-Danlos syndrome, type 8;
NM_001733.7(C1R):c.902G>C (p.Arg301Pro)	715	C1R	Pathogenic	760277934	RCV000258069\|RCV000755113;	N	MONDO:MONDO:0020684,MedGen:C4551499,OMIM:130080, Orphanet:75392\|MONDO:MONDO:0014954,MedGen:C4310681,OMIM:617174	12	7241449	7241449	NC_000012.11:g.7241449C>G	ClinGen:CA10602474,OMIM:613785.0004
NM_001733.7(C1R):c.899T>C (p.Leu300Pro)	715	C1R	Pathogenic	1057515579	RCV000258067\|RCV000755112;	N	MONDO:MONDO:0020684,MedGen:C4551499,OMIM:130080, Orphanet:75392\|MONDO:MONDO:0014954,MedGen:C4310681,OMIM:617174	12	7241452	7241452	NC_000012.11:g.7241452A>G	ClinGen:CA16040617,OMIM:613785.0005	C0268347 130080 Ehlers-Danlos syndrome, type 8;
NM_001733.7(C1R):c.869A>G (p.Asp290Gly)	715	C1R	Pathogenic	1057518643	RCV000258064\|RCV000755110;	N	MONDO:MONDO:0020684,MedGen:C4551499,OMIM:130080, Orphanet:75392\|MONDO:MONDO:0014954,MedGen:C4310681,OMIM:617174	12	7241482	7241482	NC_000012.11:g.7241482T>C	ClinGen:CA10602477,OMIM:613785.0007	C0268347 130080 Ehlers-Danlos syndrome, type 8;
NM_001733.7(C1R):c.149_150delinsAT (p.Val50Asp)	715	C1R	Pathogenic	1057519025	RCV000412647\|RCV000755109;	N	MONDO:MONDO:0020684,MedGen:C4551499,OMIM:130080, Orphanet:75392\|MONDO:MONDO:0014954,MedGen:C4310681,OMIM:617174	12	7244129	7244130	NC_000012.11:g.7244129_7244130delinsAT	ClinGen:CA16042209,OMIM:613785.0001	C0268347 130080 Ehlers-Danlos syndrome, type 8;
NM_001733.7(C1R):c.890G>A (p.Gly297Asp)	-1	C1R;C1RL	Pathogenic/Likely pathogenic	1057519026	RCV000412507\|RCV000755111;	N	MONDO:MONDO:0020684,MedGen:C4551499,OMIM:130080, Orphanet:75392\|MONDO:MONDO:0014954,MedGen:C4310681,OMIM:617174	12	7241461	7241461	NC_000012.11:g.7241461C>T	ClinGen:CA16042208	C0268347 130080 Ehlers-Danlos syndrome, type 8;
NM_001734.5(C1S):c.2T>C (p.Met1Thr)	716	C1S	Likely pathogenic	-1	RCV003444465;	N	MONDO:MONDO:0014954,MedGen:C4310681,OMIM:617174	12	7169218	7169218		-
NM_001734.5(C1S):c.100A>G (p.Ser34Gly)	716	C1S	Uncertain significance	148105120	RCV000994836\|RCV002489489;	N	MedGen:C3661900\|MONDO:MONDO:0013419,MedGen:C3151078,OMIM:613783; MONDO:MONDO:0014954,MedGen:C4310681,OMIM:617174	12	7169873	7169873	12:g.7169873A>G	-
NM_001734.5(C1S):c.124A>G (p.Ile42Val)	716	C1S	Conflicting interpretations of pathogenicity	781944012	RCV001429630\|RCV001543662\|RCV002555523;	N	MedGen:C3661900\|MONDO:MONDO:0014954,MedGen:C4310681,OMIM:617174\|MeSH:D030342,MedGen:C0950123	12	7169897	7169897	7169897	-
NM_001734.5(C1S):c.347A>G (p.Asn116Ser)	716	C1S	Uncertain significance	782390414	RCV002013047\|RCV003388077;	N	MedGen:C3661900\|MONDO:MONDO:0014954,MedGen:C4310681,OMIM:617174	12	7170327	7170327	7170327	-
NM_001734.5(C1S):c.380A>G (p.Tyr127Cys)	716	C1S	Uncertain significance	-1	RCV003315183;	N	MONDO:MONDO:0014954,MedGen:C4310681,OMIM:617174	12	7170360	7170360		-
NM_001734.5(C1S):c.514G>A (p.Gly172Arg)	716	C1S	Uncertain significance	375308014	RCV000767908\|RCV002533925;	N	MONDO:MONDO:0013419,MedGen:C3151078,OMIM:613783; MONDO:MONDO:0014954,MedGen:C4310681,OMIM:617174\|MedGen:CN517202	12	7171693	7171693	NC_000012.11:g.7171693G>A	-
NM_001734.5(C1S):c.622T>C (p.Leu208=)	716	C1S	Likely benign	144205018	RCV002173976\|RCV002500344;	N	MedGen:C3661900\|MONDO:MONDO:0013419,MedGen:C3151078,OMIM:613783; MONDO:MONDO:0014954,MedGen:C4310681,OMIM:617174	12	7172508	7172508	7172508	-
NM_001734.5(C1S):c.727G>A (p.Gly243Arg)	716	C1S	Uncertain significance	-1	RCV003143869\|RCV003333810;	N	MedGen:CN517202\|MONDO:MONDO:0014954,MedGen:C4310681,OMIM:617174	12	7173130	7173130	NC_000012.11:g.7173130G>A	-
NM_001734.5(C1S):c.809T>C (p.Ile270Thr)	716	C1S	Uncertain significance	-1	RCV003333662;	N	MONDO:MONDO:0014954,MedGen:C4310681,OMIM:617174	12	7173212	7173212		-
NM_001734.5(C1S):c.880T>C (p.Cys294Arg)	716	C1S	Pathogenic	886040975	RCV000258062\|RCV000417062;	N	MONDO:MONDO:0014954,MedGen:C4310681,OMIM:617174\|MONDO:MONDO:0020684,MedGen:C4551499,OMIM:130080, Orphanet:75392	12	7173830	7173830	12:g.7173830T>C	ClinGen:CA10602472,UniProtKB:P09871#VAR_077120,OMIM:120580.0003	C4310681 617174 Ehlers-Danlos syndrome, periodontal type, 2;
NM_001734.5(C1S):c.943G>A (p.Asp315Asn)	716	C1S	Conflicting interpretations of pathogenicity	117907409	RCV000767909\|RCV000954965\|RCV000988780;	N	MONDO:MONDO:0013419,MedGen:C3151078,OMIM:613783; MONDO:MONDO:0014954,MedGen:C4310681,OMIM:617174\|MedGen:C3661900\|MONDO:MONDO:0013419,MedGen:C3151078,OMIM:613783	12	7173893	7173893	NC_000012.11:g.7173893G>A	-
NM_001734.5(C1S):c.945_947del (p.Asp315_Val316delinsGlu)	716	C1S	Pathogenic	886040974	RCV000258063\|RCV000417046;	N	MONDO:MONDO:0014954,MedGen:C4310681,OMIM:617174\|MONDO:MONDO:0020684,MedGen:C4551499,OMIM:130080, Orphanet:75392	12	7173895	7173897	NC_000012.11:g.7173895_7173897del	ClinGen:CA10602471,OMIM:120580.0004
NM_001734.5(C1S):c.979G>C (p.Val327Leu)	716	C1S	Likely benign	2239170	RCV000909811\|RCV002502726;	N	MedGen:C3661900\|MONDO:MONDO:0013419,MedGen:C3151078,OMIM:613783; MONDO:MONDO:0014954,MedGen:C4310681,OMIM:617174	12	7173929	7173929	12:g.7173929G>C	-
NM_001734.5(C1S):c.991C>T (p.Arg331Cys)	716	C1S	Uncertain significance	140488585	RCV002262169\|RCV003095953;	N	MONDO:MONDO:0014954,MedGen:C4310681,OMIM:617174; MONDO:MONDO:0013419,MedGen:C3151078,OMIM:613783\|MedGen:C3661900	12	7174346	7174346	7174346	-
NM_001734.5(C1S):c.1015T>G (p.Ser339Ala)	716	C1S	Uncertain significance	-1	RCV003388237;	N	MONDO:MONDO:0014954,MedGen:C4310681,OMIM:617174	12	7174370	7174370		-
NM_001734.5(C1S):c.1139C>T (p.Ser380Phe)	716	C1S	Uncertain significance	782329906	RCV001253335\|RCV001281033\|RCV002568731;	N	MONDO:MONDO:0014954,MedGen:C4310681,OMIM:617174\|MONDO:MONDO:0014954,MedGen:C4310681,OMIM:617174; MONDO:MONDO:0013419,MedGen:C3151078,OMIM:613783\|MedGen:CN517202	12	7175019	7175019	12:g.7175019C>T	-
NM_001734.5(C1S):c.1198G>C (p.Glu400Gln)	716	C1S	Conflicting interpretations of pathogenicity	150549869	RCV001281032\|RCV001871627\|RCV002537912;	N	MONDO:MONDO:0013419,MedGen:C3151078,OMIM:613783; MONDO:MONDO:0014954,MedGen:C4310681,OMIM:617174\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	12	7175762	7175762	12:g.7175762G>C	-
NM_001734.5(C1S):c.1600C>T (p.Arg534Trp)	716	C1S	Uncertain significance	121909582	RCV000994838\|RCV002490386;	N	MedGen:C3661900\|MONDO:MONDO:0014954,MedGen:C4310681,OMIM:617174; MONDO:MONDO:0013419,MedGen:C3151078,OMIM:613783	12	7177488	7177488	12:g.7177488C>T	ClinGen:CA127067	C3151078 613783 Complement component c1s deficiency;

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