MCID: 3MS003
MIFTS: 4

3-M Syndrome, Cul7-Related

Categories: Genetic diseases

Aliases & Classifications for 3-M Syndrome, Cul7-Related

MalaCards integrated aliases for 3-M Syndrome, Cul7-Related:

Name: 3-M Syndrome, Cul7-Related 24
Three M Syndrome 1 24 69

Classifications:



Summaries for 3-M Syndrome, Cul7-Related

MalaCards based summary : 3-M Syndrome, Cul7-Related, also known as three m syndrome 1, is related to 3-m syndrome 1. An important gene associated with 3-M Syndrome, Cul7-Related is CUL7 (Cullin 7).

Related Diseases for 3-M Syndrome, Cul7-Related

Diseases related to 3-M Syndrome, Cul7-Related via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 3-m syndrome 1 11.2

Symptoms & Phenotypes for 3-M Syndrome, Cul7-Related

Drugs & Therapeutics for 3-M Syndrome, Cul7-Related

Search Clinical Trials , NIH Clinical Center for 3-M Syndrome, Cul7-Related

Genetic Tests for 3-M Syndrome, Cul7-Related

Genetic tests related to 3-M Syndrome, Cul7-Related:

id Genetic test Affiliating Genes
1 3-M Syndrome, Cul7-Related 24 CUL7

Anatomical Context for 3-M Syndrome, Cul7-Related

Publications for 3-M Syndrome, Cul7-Related

Variations for 3-M Syndrome, Cul7-Related

ClinVar genetic disease variations for 3-M Syndrome, Cul7-Related:

6 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1 CUL7 NM_014780.4(CUL7): c.4333C> T (p.Arg1445Ter) single nucleotide variant Pathogenic rs121918228 GRCh37 Chromosome 6, 43006687: 43006687
2 CUL7 NM_014780.4(CUL7): c.4391A> C (p.His1464Pro) single nucleotide variant Pathogenic rs121918229 GRCh37 Chromosome 6, 43006629: 43006629
3 CUL7 NM_014780.4(CUL7): c.4451_4452delTG (p.Val1484Glyfs) deletion Pathogenic rs730880261 GRCh37 Chromosome 6, 43006419: 43006420
4 CUL7 NM_014780.4(CUL7): c.3379_3380delTG (p.Trp1127Glufs) deletion Pathogenic rs730880262 GRCh37 Chromosome 6, 43010894: 43010895
5 CUL7 NM_014780.4(CUL7): c.1570-3C> A single nucleotide variant Pathogenic rs730880263 GRCh38 Chromosome 6, 43049665: 43049665
6 CUL7 NM_001168370.1(CUL7): c.2844T> G (p.Tyr948Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201406974 GRCh37 Chromosome 6, 43014042: 43014042
7 CUL7 NM_014780.4(CUL7): c.3041T> G (p.Leu1014Arg) single nucleotide variant Pathogenic/Likely pathogenic rs61752334 GRCh37 Chromosome 6, 43012621: 43012621
8 CUL7 NM_014780.4(CUL7): c.4717C> T (p.Arg1573Ter) single nucleotide variant Pathogenic rs749509661 GRCh37 Chromosome 6, 43006061: 43006061
9 CUL7 NM_014780.4(CUL7): c.898_919del22 (p.Met300Trpfs) deletion Pathogenic rs794727644 GRCh37 Chromosome 6, 43019020: 43019041
10 CUL7 NM_014780.4(CUL7): c.3173-1G> C single nucleotide variant Pathogenic rs864309521 GRCh38 Chromosome 6, 43043631: 43043631
11 CUL7 NM_014780.4(CUL7): c.2164C> T (p.Arg722Ter) single nucleotide variant Pathogenic rs886042376 GRCh37 Chromosome 6, 43015891: 43015891
12 CUL7 NM_014780.4(CUL7): c.2787delC (p.Ser930Alafs) deletion Pathogenic rs886043872 GRCh37 Chromosome 6, 43013400: 43013400
13 CUL7 NM_014780.4(CUL7): c.4318C> T (p.Arg1440Ter) single nucleotide variant Pathogenic rs748555538 GRCh37 Chromosome 6, 43006702: 43006702
14 CUL7 NM_014780.4(CUL7): c.2848A> T (p.Lys950Ter) single nucleotide variant Pathogenic rs886044397 GRCh37 Chromosome 6, 43013339: 43013339

Expression for 3-M Syndrome, Cul7-Related

Search GEO for disease gene expression data for 3-M Syndrome, Cul7-Related.

Pathways for 3-M Syndrome, Cul7-Related

GO Terms for 3-M Syndrome, Cul7-Related

Sources for 3-M Syndrome, Cul7-Related

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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