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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

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

Disease Browser
Parent Node: Diseases (C)
Parent Node: Leukemia, Myelomonocytic, Juvenile (D054429)
Parent Node: Noonan like syndrome (C537846)
..Starting node ..NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Child Nodes:
Sister Nodes:
..NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR (OMIM:607721)
..NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:613563)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8124

Name:

NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA

Definition:

Alternative IDs:

ParentIDs:

MESH:C537846|MESH:D054429

TreeNumbers:

C04.557.337.539.525/613563 |C05.500.368/C537846/613563 |C05.660.207.690/C537846/613563 |C07.320.391/C537846/613563 |C07.465.714.258.557/C537846/613563 |C14.240.400.787/C537846/613563 |C14.280.400.787/C537846/613563 |C15.378.190.615.520/613563 |C16.131.240.400.78

Synonyms:

CBL MUTATION-ASSOCIATED SYNDROME |CBL SYNDROME |NSLL

Slim Mappings:

Reference:

MedGen: 613563
MeSH: 613563
OMIM: 613563;

Genes: CBL;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001650	Aortic valve stenosis
3	HP:0001647	Bicuspid aortic valve
4	HP:0000957	Cafe-au-lait spot
5	HP:0010310	Chylothorax	HP:0040283
6	HP:0000028	Cryptorchidism
7	HP:0002967	Cubitus valgus
8	HP:0002002	Deep philtrum
9	HP:0000750	Delayed speech and language development
10	HP:0005280	Depressed nasal bridge
11	HP:0000494	Downslanted palpebral fissures
12	HP:0000286	Epicanthus
13	HP:0002213	Fine hair
14	HP:0002007	Frontal bossing
15	HP:0001290	Generalized hypotonia
16	HP:0001263	Global developmental delay
17	HP:0000316	Hypertelorism
18	HP:0001382	Joint hypermobility
19	HP:0001388	Joint laxity
20	HP:0012209	Juvenile myelomonocytic leukemia
21	HP:0000343	Long philtrum
22	HP:0000369	Low-set ears
23	HP:0001004	Lymphedema	HP:0040283
24	HP:0000400	Macrotia
25	HP:0001653	Mitral regurgitation
26	HP:0000767	Pectus excavatum
27	HP:0003812	Phenotypic variability
28	HP:0001561	Polyhydramnios	HP:0040283
29	HP:0000358	Posteriorly rotated ears
30	HP:0000508	Ptosis
31	HP:0000470	Short neck
32	HP:0004322	Short stature	HP:0040283
33	HP:0008070	Sparse hair
34	HP:0012471	Thick vermilion border
35	HP:0000325	Triangular face
36	HP:0000465	Webbed neck
37	HP:0006610	Wide intermamillary distance

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_005188.3(CBL):c.1096-4_1096-1delAAAG	867	CBL	Likely pathogenic;Pathogenic	397517077	RCV000038347; RCV000157871;	N	MedGen:C3150803,OMIM:613563,ORPHA:363972; MedGen:CN166718	11	119148872	119148875	NM_005188.3:c.1096-4_1096-1delAAAG		NC_000011.9:g.119148872_119148875delAAAG	-	C3150803 613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia; CN166718 Rasopathy
NM_005188.3(CBL):c.1096-1G>C	867	CBL	Pathogenic	397517076	RCV000038346;	N	MedGen:C3150803,OMIM:613563,ORPHA:363972	11	119148875	119148875	NM_005188.3:c.1096-1G>C		NC_000011.9:g.119148875G>C,NC_000011.9:g.119148875G>T	-	C3150803 613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
NM_005188.3(CBL):c.1096-1G>T	867	CBL	Pathogenic	397517076	RCV000217231; RCV000157858;	N	MedGen:C3150803,OMIM:613563,ORPHA:363972; MedGen:CN221809	11	119148875	119148875	NM_005188.3:c.1096-1G>T		NC_000011.9:g.119148875G>C,NC_000011.9:g.119148875G>T	-	C3150803 613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia; CN221809 not provided
NM_005188.3(CBL):c.1099C>A (p.Gln367Lys)	867	CBL	Likely pathogenic	727504504	RCV000155642;	N	MedGen:C3150803,OMIM:613563,ORPHA:363972	11	119148879	119148879	NM_005188.3:c.1099C>A	NP_005179.2:p.Gln367Lys	NC_000011.9:g.119148879C>A	-	C3150803 613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
NM_005188.3(CBL):c.1100A>C (p.Gln367Pro)	867	CBL	Pathogenic	267606704	RCV000014818; RCV000033352;	N	MedGen:C3150803,OMIM:613563,ORPHA:363972; MedGen:CN221809	11	119148880	119148880	NM_005188.3:c.1100A>C	NP_005179.2:p.Gln367Pro	NC_000011.9:g.119148880A>C	OMIM Allelic Variant:165360.0001	C3150803 613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia; CN221809 not provided
NM_005188.3(CBL):c.1144A>G (p.Lys382Glu)	867	CBL	Pathogenic	267606705	RCV000014819;	N	MedGen:C3150803,OMIM:613563,ORPHA:363972	11	119148924	119148924	NM_005188.3:c.1144A>G	NP_005179.2:p.Lys382Glu	NC_000011.9:g.119148924A>G	OMIM Allelic Variant:165360.0002	C3150803 613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
NM_005188.3(CBL):c.1168G>T (p.Asp390Tyr)	867	CBL	Pathogenic	267606707	RCV000014820;	N	MedGen:C3150803,OMIM:613563,ORPHA:363972	11	119148948	119148948	NM_005188.3:c.1168G>T	NP_005179.2:p.Asp390Tyr	NC_000011.9:g.119148948G>T	OMIM Allelic Variant:165360.0003	C3150803 613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
NM_005188.3(CBL):c.1228-2A>G	867	CBL	Likely pathogenic;Pathogenic	727504426	RCV000220945; RCV000154623; RCV000157861;	N	MedGen:C0349639,OMIM:607785,ORPHA:86834; MedGen:C3150803,OMIM:613563,ORPHA:363972; MedGen:CN166718	11	119149218	119149218	NM_005188.3:c.1228-2A>G		NC_000011.9:g.119149218A>G	-	C0349639 607785 Juvenile myelomonocytic leukemia; C3150803 613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia; CN166718 Rasopathy
NM_005188.3(CBL):c.1259G>A (p.Arg420Gln)	867	CBL	Pathogenic	267606708	RCV000014821;	N	MedGen:C3150803,OMIM:613563,ORPHA:363972	11	119149251	119149251	NM_005188.3:c.1259G>A	NP_005179.2:p.Arg420Gln	NC_000011.9:g.119149251G>A	OMIM Allelic Variant:165360.0004	C3150803 613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
NM_005188.3(CBL):c.1463C>T (p.Ala488Val)	867	CBL	not provided	377502790	RCV000106326;	N	MedGen:C3150803,OMIM:613563,ORPHA:363972	11	119155710	119155710	NM_005188.3:c.1463C>T	NP_005179.2:p.Ala488Val	NC_000011.9:g.119155710C>T	-	C3150803 613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
NM_005188.3(CBL):c.1711G>A (p.Asp571Asn)	867	CBL	not provided	483352825	RCV000106327;	N	MedGen:C3150803,OMIM:613563,ORPHA:363972	11	119156046	119156046	NM_005188.3:c.1711G>A	NP_005179.2:p.Asp571Asn	NC_000011.9:g.119156046G>A	-	C3150803 613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
NM_005188.3(CBL):c.2345C>T (p.Pro782Leu)	867	CBL	Benign;Likely benign;Uncertain significance	2229073	RCV000106328; RCV000033369; RCV000038358;	N	MedGen:C3150803,OMIM:613563,ORPHA:363972; MedGen:CN166718; MedGen:CN169374	11	119169161	119169161	NM_005188.3:c.2345C>T	NP_005179.2:p.Pro782Leu	NC_000011.9:g.119169161C>T	-	C3150803 613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia; CN169374 not specified; CN166718 Rasopathy