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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

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

Disease Browser
Parent Node: Intellectual Disability (D008607)
Parent Node: Micrognathism (D008844)
..Starting node ..Cerebral Cavernous Malformations 2 (C566394)
Child Nodes:
Sister Nodes:
..Baetz-Greenwalt syndrome (C537795)
..Bird headed dwarfism Montreal type (C535448)
..Cerebral Cavernous Malformations 2 (C566394)
..Cerebral Cavernous Malformations 3 (C566393)
..Cerebrocostomandibular Syndrome (C562538)
..Clavicular Hypoplasia, Zygomatic Arch Hypoplasia, and Micrognathia (C565729)
..Coffin-Siris syndrome (C536436)
..Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia (C564509)
..Crumpled helices and small mouth (C536217)
..Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia (C563344)
..Genee-Wiedemann syndrome (C537680)
..Genito palato cardiac syndrome (C537683)
..Ho Kaufman Mcalister syndrome (C538325)
..Limb Deficiencies, Distal, with Micrognathia (C565437)
..Meier-Gorlin syndrome (C538012)
..Milner Khallouf Gibson syndrome (C537473)
..Multiple Epiphyseal Dysplasia with Robin Phenotype (C563291)
..Schweitzer Kemink Graham syndrome (C536511)
..Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet (C564759)
..Yunis Varon syndrome (C536719)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1940

Name:

Cerebral Cavernous Malformations 2

Definition:

Alternative IDs:

OMIM:603284

ParentIDs:

MESH:D008607|MESH:D008844

TreeNumbers:

C05.500.460.457/C566394 |C05.660.207.540.460.457/C566394 |C07.320.440.457/C566394 |C07.650.500.460.457/C566394 |C10.597.606.643/C566394 |C16.131.621.207.540.460.457/C566394 |C16.131.850.500.460.457/C566394 |C23.888.592.604.646/C566394 |F03.550.600/C566394

Synonyms:

CCM2

Slim Mappings:

Reference:

MedGen: C566394
MeSH: C566394
OMIM: 603284;

Genes: CCM2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001342	Cerebral hemorrhage
3	HP:0002315	Headache
4	HP:0001425	Heterogeneous
5	HP:0001250	Seizure
6	HP:0001297	Stroke
7	HP:0001009	Telangiectasia

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_031443.3(CCM2):c.1A>G (p.Met1Val)	83605	CCM2	Pathogenic	137852842	RCV000002803;	N	MedGen:C1864041,OMIM:603284	7	45039933	45039933	NM_031443.3:c.1A>G	NP_113631.1:p.Met1Val	NC_000007.13:g.45039933A>G	OMIM Allelic Variant:607929.0005	C1864041 603284 Cerebral cavernous malformations 2
NM_031443.3(CCM2):c.30+5_30+6delGCinsTT	83605	CCM2	Pathogenic	797044623	RCV000173535;	N	MedGen:C1864041,OMIM:603284	7	45039967	45039968	NM_031443.3:c.30+5_30+6delGCinsTT		NC_000007.13:g.45039967_45039968delGCinsTT	-	C1864041 603284 Cerebral cavernous malformations 2
NM_001029835.2(CCM2):c.382C>T (p.Gln128Ter)	83605	CCM2	Pathogenic	137852841	RCV000002800;	N	MedGen:C1864041,OMIM:603284	7	45104092	45104092	NM_001029835.2:c.382C>T	NP_001025006.1:p.Gln128Ter	NC_000007.13:g.45104092C>T	OMIM Allelic Variant:607929.0002	C1864041 603284 Cerebral cavernous malformations 2
NM_001029835.2(CCM2):c.656T>G (p.Leu219Arg)	83605	CCM2	Pathogenic	137852843	RCV000002805;	N	MedGen:C1864041,OMIM:603284	7	45108162	45108162	NM_001029835.2:c.656T>G	NP_001025006.1:p.Leu219Arg	NC_000007.13:g.45108162T>G	OMIM Allelic Variant:607929.0007	C1864041 603284 Cerebral cavernous malformations 2