EDMD5
MCID: EMR015
MIFTS: 41

Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant (EDMD5)

Categories: Bone diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

MalaCards integrated aliases for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant:

Name: Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant 57 12 75 29 13 6 73
Edmd5 57 12 75
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 5 12 15
Dystrophy, Muscular, Emery-Dreifuss, Type 5, Autosomal Dominant 40
Emd5 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
onset in childhood


HPO:

32
emery-dreifuss muscular dystrophy 5, autosomal dominant:
Onset and clinical course phenotypic variability childhood onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

UniProtKB/Swiss-Prot : 75 Emery-Dreifuss muscular dystrophy 5, autosomal dominant: A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects.

MalaCards based summary : Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant, also known as edmd5, is related to long qt syndrome 1 and long qt syndrome 15. An important gene associated with Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant is SYNE2 (Spectrin Repeat Containing Nuclear Envelope Protein 2), and among its related pathways/superpathways are TGF-Beta Pathway and TCR Signaling (Qiagen). Affiliated tissues include bone, and related phenotypes are respiratory insufficiency and elevated serum creatine phosphokinase

Disease Ontology : 12 An Emery-Dreifuss muscular dystrophy that has material basis in an autosomal dominant mutation of SYNE2 on chromosome 14q23.2.

Description from OMIM: 612999

Related Diseases for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

Diseases in the Emery-Dreifuss Muscular Dystrophy family:

Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive Emery-Dreifuss Muscular Dystrophy, Dominant Type

Diseases related to Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 long qt syndrome 1 9.7 CALM1 CALM2 CALM3
2 long qt syndrome 15 9.7 CALM1 CALM2 CALM3
3 long qt syndrome 9.7 CALM1 CALM2 CALM3
4 otomycosis 9.7 CALM1 CALM2 CALM3
5 external ear disease 9.7 CALM1 CALM2 CALM3
6 sporotrichosis 9.7 CALM1 CALM2 CALM3
7 otitis externa 9.7 CALM1 CALM2 CALM3
8 spontaneous ocular nystagmus 9.7 CALM1 CALM2 CALM3
9 deafness, autosomal recessive 44 9.7 CALM1 CALM2 CALM3
10 acute dacryocystitis 9.7 CALM1 CALM2 CALM3
11 dystonia 24 9.7 CALM1 CALM2 CALM3
12 gestational choriocarcinoma 9.7 CALM1 CALM2 CALM3
13 triosephosphate isomerase deficiency 9.7 CALM1 CALM2 CALM3
14 leber congenital amaurosis 2 9.7 CALM1 CALM2 CALM3
15 tinea unguium 9.7 CALM1 CALM2 CALM3
16 primary systemic mycosis 9.7 CALM1 CALM2 CALM3
17 clear cell acanthoma 9.6 CALM1 CALM2 CALM3
18 cardiomyopathy, dilated, 1a 9.6 CALM1 CALM2 CALM3
19 cardiomyopathy, dilated, 1p 9.6 CALM1 CALM2 CALM3
20 phaeohyphomycosis 9.6 CALM1 CALM2 CALM3
21 deafness, autosomal dominant 2a 9.6 CALM1 CALM2 CALM3
22 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 9.6 CALM1 CALM2 CALM3
23 ceroid lipofuscinosis, neuronal, 11 9.6 CALM1 CALM2 CALM3
24 primary cutaneous amyloidosis 9.6 CALM1 CALM2 CALM3
25 catecholaminergic polymorphic ventricular tachycardia 9.5 CALM1 CALM2 CALM3
26 cardiac arrest 9.4 CALM1 CALM2 CALM3

Graphical network of the top 20 diseases related to Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant:



Diseases related to Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

Symptoms & Phenotypes for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
respiratory insufficiency

Laboratory Abnormalities:
increased serum creatine kinase

Cardiovascular Heart:
cardiomyopathy
arrhythmias

Muscle Soft Tissue:
muscle biopsy shows dystrophic changes
muscle weakness and atrophy, proximal


Clinical features from OMIM:

612999

Human phenotypes related to Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency 32 HP:0002093
2 elevated serum creatine phosphokinase 32 HP:0003236
3 arrhythmia 32 HP:0011675
4 cardiomyopathy 32 HP:0001638
5 proximal muscle weakness 32 HP:0003701
6 muscular dystrophy 32 HP:0003560
7 proximal amyotrophy 32 HP:0007126

GenomeRNAi Phenotypes related to Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 9.8 CALM2
2 Decreased viability GR00221-A-1 9.8 CALM2
3 Decreased viability GR00221-A-2 9.8 BRCA1 CALM1 CALM2
4 Decreased viability GR00221-A-3 9.8 BRCA1 CALM1
5 Decreased viability GR00221-A-4 9.8 CALM1 CALM2
6 Decreased viability GR00301-A 9.8 BRCA1 CALM1 CALM2
7 Decreased viability GR00402-S-2 9.8 BRCA1 CALM1 CALM2
8 Decreased Hepatitis C Virus pseudoparticles (HCVpp; H77; genotype 1a) infection GR00234-A-1 8.96 CALM2 CALM3

Drugs & Therapeutics for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

Genetic Tests for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

Genetic tests related to Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant 29 SYNE2

Anatomical Context for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

MalaCards organs/tissues related to Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant:

41
Bone

Publications for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

Variations for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

UniProtKB/Swiss-Prot genetic disease variations for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant:

75
# Symbol AA change Variation ID SNP ID
1 SYNE2 p.Thr6211Met VAR_062977 rs36215895

ClinVar genetic disease variations for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant:

6 (show top 50) (show all 774)
# Gene Variation Type Significance SNP ID Assembly Location
1 SYNE2 NM_182914.2(SYNE2): c.18632C> T (p.Thr6211Met) single nucleotide variant Conflicting interpretations of pathogenicity rs36215895 GRCh37 Chromosome 14, 64676751: 64676751
2 SYNE2 NM_182914.2(SYNE2): c.18632C> T (p.Thr6211Met) single nucleotide variant Conflicting interpretations of pathogenicity rs36215895 GRCh38 Chromosome 14, 64210033: 64210033
3 SYNE2 NM_182914.2(SYNE2): c.10567A> C (p.Lys3523Gln) single nucleotide variant Benign rs35203186 GRCh37 Chromosome 14, 64537498: 64537498
4 SYNE2 NM_182914.2(SYNE2): c.10567A> C (p.Lys3523Gln) single nucleotide variant Benign rs35203186 GRCh38 Chromosome 14, 64070780: 64070780
5 SYNE2 NM_182914.2(SYNE2): c.10835A> G (p.Gln3612Arg) single nucleotide variant Benign/Likely benign rs78110192 GRCh37 Chromosome 14, 64540823: 64540823
6 SYNE2 NM_182914.2(SYNE2): c.10835A> G (p.Gln3612Arg) single nucleotide variant Benign/Likely benign rs78110192 GRCh38 Chromosome 14, 64074105: 64074105
7 SYNE2 NM_182914.2(SYNE2): c.11385G> A (p.Lys3795=) single nucleotide variant Benign rs34954189 GRCh37 Chromosome 14, 64548199: 64548199
8 SYNE2 NM_182914.2(SYNE2): c.11385G> A (p.Lys3795=) single nucleotide variant Benign rs34954189 GRCh38 Chromosome 14, 64081481: 64081481
9 SYNE2 NM_182914.2(SYNE2): c.11935C> G (p.Leu3979Val) single nucleotide variant Benign rs76576553 GRCh37 Chromosome 14, 64557725: 64557725
10 SYNE2 NM_182914.2(SYNE2): c.11935C> G (p.Leu3979Val) single nucleotide variant Benign rs76576553 GRCh38 Chromosome 14, 64091007: 64091007
11 SYNE2 NM_182914.2(SYNE2): c.12001T> C (p.Trp4001Arg) single nucleotide variant Benign rs2792205 GRCh37 Chromosome 14, 64560091: 64560091
12 SYNE2 NM_182914.2(SYNE2): c.12001T> C (p.Trp4001Arg) single nucleotide variant Benign rs2792205 GRCh38 Chromosome 14, 64093373: 64093373
13 SYNE2 NM_182914.2(SYNE2): c.12002G> A (p.Trp4001Ter) single nucleotide variant Benign rs2781377 GRCh37 Chromosome 14, 64560092: 64560092
14 SYNE2 NM_182914.2(SYNE2): c.12002G> A (p.Trp4001Ter) single nucleotide variant Benign rs2781377 GRCh38 Chromosome 14, 64093374: 64093374
15 SYNE2 NM_182914.2(SYNE2): c.12043T> C (p.Tyr4015His) single nucleotide variant Benign/Likely benign rs75665958 GRCh37 Chromosome 14, 64560133: 64560133
16 SYNE2 NM_182914.2(SYNE2): c.12043T> C (p.Tyr4015His) single nucleotide variant Benign/Likely benign rs75665958 GRCh38 Chromosome 14, 64093415: 64093415
17 SYNE2 NM_182914.2(SYNE2): c.12122G> A (p.Arg4041His) single nucleotide variant Benign/Likely benign rs17101661 GRCh37 Chromosome 14, 64564680: 64564680
18 SYNE2 NM_182914.2(SYNE2): c.12122G> A (p.Arg4041His) single nucleotide variant Benign/Likely benign rs17101661 GRCh38 Chromosome 14, 64097962: 64097962
19 SYNE2 NM_182914.2(SYNE2): c.12612C> T (p.Gly4204=) single nucleotide variant Benign rs114604397 GRCh37 Chromosome 14, 64580061: 64580061
20 SYNE2 NM_182914.2(SYNE2): c.12612C> T (p.Gly4204=) single nucleotide variant Benign rs114604397 GRCh38 Chromosome 14, 64113343: 64113343
21 SYNE2 NM_182914.2(SYNE2): c.12626T> C (p.Ile4209Thr) single nucleotide variant Benign/Likely benign rs61747118 GRCh37 Chromosome 14, 64580075: 64580075
22 SYNE2 NM_182914.2(SYNE2): c.12626T> C (p.Ile4209Thr) single nucleotide variant Benign/Likely benign rs61747118 GRCh38 Chromosome 14, 64113357: 64113357
23 SYNE2 NM_182914.2(SYNE2): c.12840+8T> C single nucleotide variant Benign rs145218296 GRCh37 Chromosome 14, 64580297: 64580297
24 SYNE2 NM_182914.2(SYNE2): c.12840+8T> C single nucleotide variant Benign rs145218296 GRCh38 Chromosome 14, 64113579: 64113579
25 SYNE2 NM_182914.2(SYNE2): c.1296C> A (p.Ser432Arg) single nucleotide variant Benign rs35554503 GRCh37 Chromosome 14, 64444625: 64444625
26 SYNE2 NM_182914.2(SYNE2): c.1296C> A (p.Ser432Arg) single nucleotide variant Benign rs35554503 GRCh38 Chromosome 14, 63977907: 63977907
27 SYNE2 NM_182914.2(SYNE2): c.13254C> A (p.Asn4418Lys) single nucleotide variant Benign/Likely benign rs36021513 GRCh37 Chromosome 14, 64588825: 64588825
28 SYNE2 NM_182914.2(SYNE2): c.13254C> A (p.Asn4418Lys) single nucleotide variant Benign/Likely benign rs36021513 GRCh38 Chromosome 14, 64122107: 64122107
29 SYNE2 NM_182914.2(SYNE2): c.13266G> A (p.Gln4422=) single nucleotide variant Benign/Likely benign rs34944385 GRCh37 Chromosome 14, 64588837: 64588837
30 SYNE2 NM_182914.2(SYNE2): c.13266G> A (p.Gln4422=) single nucleotide variant Benign/Likely benign rs34944385 GRCh38 Chromosome 14, 64122119: 64122119
31 SYNE2 NM_182914.2(SYNE2): c.13423-7C> G single nucleotide variant Benign rs7140414 GRCh37 Chromosome 14, 64591790: 64591790
32 SYNE2 NM_182914.2(SYNE2): c.13423-7C> G single nucleotide variant Benign rs7140414 GRCh38 Chromosome 14, 64125072: 64125072
33 SYNE2 NM_182914.2(SYNE2): c.14430A> G (p.Thr4810=) single nucleotide variant Benign/Likely benign rs34248042 GRCh37 Chromosome 14, 64599072: 64599072
34 SYNE2 NM_182914.2(SYNE2): c.14430A> G (p.Thr4810=) single nucleotide variant Benign/Likely benign rs34248042 GRCh38 Chromosome 14, 64132354: 64132354
35 SYNE2 NM_182914.2(SYNE2): c.14734C> G (p.Pro4912Ala) single nucleotide variant Benign/Likely benign rs17766354 GRCh37 Chromosome 14, 64604592: 64604592
36 SYNE2 NM_182914.2(SYNE2): c.14734C> G (p.Pro4912Ala) single nucleotide variant Benign/Likely benign rs17766354 GRCh38 Chromosome 14, 64137874: 64137874
37 SYNE2 NM_182914.2(SYNE2): c.14737G> A (p.Glu4913Lys) single nucleotide variant Benign rs12881815 GRCh37 Chromosome 14, 64604595: 64604595
38 SYNE2 NM_182914.2(SYNE2): c.14737G> A (p.Glu4913Lys) single nucleotide variant Benign rs12881815 GRCh38 Chromosome 14, 64137877: 64137877
39 SYNE2 NM_182914.2(SYNE2): c.14776T> C (p.Leu4926=) single nucleotide variant Benign rs8007874 GRCh37 Chromosome 14, 64604634: 64604634
40 SYNE2 NM_182914.2(SYNE2): c.14776T> C (p.Leu4926=) single nucleotide variant Benign rs8007874 GRCh38 Chromosome 14, 64137916: 64137916
41 SYNE2 NM_182914.2(SYNE2): c.15556C> A (p.Leu5186Met) single nucleotide variant Benign rs10151658 GRCh37 Chromosome 14, 64612858: 64612858
42 SYNE2 NM_182914.2(SYNE2): c.15556C> A (p.Leu5186Met) single nucleotide variant Benign rs10151658 GRCh38 Chromosome 14, 64146140: 64146140
43 SYNE2 NM_182914.2(SYNE2): c.15794T> C (p.Val5265Ala) single nucleotide variant Benign/Likely benign rs142660236 GRCh37 Chromosome 14, 64625344: 64625344
44 SYNE2 NM_182914.2(SYNE2): c.15794T> C (p.Val5265Ala) single nucleotide variant Benign/Likely benign rs142660236 GRCh38 Chromosome 14, 64158626: 64158626
45 SYNE2 NM_182914.2(SYNE2): c.16305G> A (p.Leu5435=) single nucleotide variant Benign/Likely benign rs116758464 GRCh37 Chromosome 14, 64630125: 64630125
46 SYNE2 NM_182914.2(SYNE2): c.16305G> A (p.Leu5435=) single nucleotide variant Benign/Likely benign rs116758464 GRCh38 Chromosome 14, 64163407: 64163407
47 SYNE2 NM_182914.2(SYNE2): c.16522T> A (p.Ser5508Thr) single nucleotide variant Benign/Likely benign rs35190322 GRCh37 Chromosome 14, 64632045: 64632045
48 SYNE2 NM_182914.2(SYNE2): c.16522T> A (p.Ser5508Thr) single nucleotide variant Benign/Likely benign rs35190322 GRCh38 Chromosome 14, 64165327: 64165327
49 SYNE2 NM_182914.2(SYNE2): c.16722A> G (p.Gln5574=) single nucleotide variant Benign rs17101704 GRCh37 Chromosome 14, 64634067: 64634067
50 SYNE2 NM_182914.2(SYNE2): c.16722A> G (p.Gln5574=) single nucleotide variant Benign rs17101704 GRCh38 Chromosome 14, 64167349: 64167349

Expression for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

Search GEO for disease gene expression data for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant.

Pathways for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

Pathways related to Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant according to GeneCards Suite gene sharing:

(show top 50) (show all 108)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.32 BRCA1 CALM1 CALM2 CALM3
2
Show member pathways
12.76 BRCA1 CALM1 CALM2 CALM3
3
Show member pathways
12.73 CALM1 CALM2 CALM3
4
Show member pathways
12.72 CALM1 CALM2 CALM3
5
Show member pathways
12.71 CALM1 CALM2 CALM3
6
Show member pathways
12.71 CALM1 CALM2 CALM3
7
Show member pathways
12.7 CALM1 CALM2 CALM3
8
Show member pathways
12.69 CALM1 CALM2 CALM3
9
Show member pathways
12.68 CALM1 CALM2 CALM3
10 12.67 CALM1 CALM2 CALM3
11
Show member pathways
12.67 CALM1 CALM2 CALM3
12
Show member pathways
12.63 CALM1 CALM2 CALM3
13
Show member pathways
12.61 BRCA1 CALM1 CALM2 CALM3
14
Show member pathways
12.59 CALM1 CALM2 CALM3
15
Show member pathways
12.59 CALM1 CALM2 CALM3
16
Show member pathways
12.59 CALM1 CALM2 CALM3
17
Show member pathways
12.58 CALM1 CALM2 CALM3
18
Show member pathways
12.56 CALM1 CALM2 CALM3
19
Show member pathways
12.54 CALM1 CALM2 CALM3
20
Show member pathways
12.53 CALM1 CALM2 CALM3
21
Show member pathways
12.53 CALM1 CALM2 CALM3
22
Show member pathways
12.52 CALM1 CALM2 CALM3
23
Show member pathways
12.5 CALM1 CALM2 CALM3
24
Show member pathways
12.48 CALM1 CALM2 CALM3
25
Show member pathways
12.47 CALM1 CALM2 CALM3
26
Show member pathways
12.45 CALM1 CALM2 CALM3
27
Show member pathways
12.43 CALM1 CALM2 CALM3
28
Show member pathways
12.43 CALM1 CALM2 CALM3
29
Show member pathways
12.42 CALM1 CALM2 CALM3
30
Show member pathways
12.4 CALM1 CALM2 CALM3
31
Show member pathways
12.39 CALM1 CALM2 CALM3
32
Show member pathways
12.34 CALM1 CALM2 CALM3
33
Show member pathways
12.33 CALM1 CALM2 CALM3
34
Show member pathways
12.33 CALM1 CALM2 CALM3
35
Show member pathways
12.31 CALM1 CALM2 CALM3
36
Show member pathways
12.31 CALM1 CALM2 CALM3
37
Show member pathways
12.3 CALM1 CALM2 CALM3
38
Show member pathways
12.29 CALM1 CALM2 CALM3
39
Show member pathways
12.28 CALM1 CALM2 CALM3
40 12.26 CALM1 CALM2 CALM3
41
Show member pathways
12.25 CALM1 CALM2 CALM3
42
Show member pathways
12.25 CALM1 CALM2 CALM3
43
Show member pathways
12.23 CALM1 CALM2 CALM3
44
Show member pathways
12.23 CALM1 CALM2 CALM3
45
Show member pathways
12.22 CALM1 CALM2 CALM3
46
Show member pathways
12.21 CALM1 CALM2 CALM3
47
Show member pathways
12.2 CALM1 CALM2 CALM3
48
Show member pathways
12.17 CALM1 CALM2 CALM3
49
Show member pathways
12.16 CALM1 CALM2 CALM3
50
Show member pathways
12.15 CALM1 CALM2 CALM3

GO Terms for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

Cellular components related to Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.8 CALM1 CALM2 CALM3 SYNE2
2 protein-containing complex GO:0032991 9.73 BRCA1 CALM1 CALM2 CALM3
3 spindle GO:0005819 9.65 CALM1 CALM2 CALM3
4 vesicle GO:0031982 9.63 CALM1 CALM2 CALM3
5 centrosome GO:0005813 9.62 CALM1 CALM2 CALM3 SYNE2
6 myelin sheath GO:0043209 9.58 CALM1 CALM2 CALM3
7 spindle pole GO:0000922 9.54 CALM1 CALM2 CALM3
8 voltage-gated potassium channel complex GO:0008076 9.52 CALM2 CALM3
9 synaptic vesicle membrane GO:0030672 9.51 CALM1 CALM3
10 sarcomere GO:0030017 9.43 CALM1 CALM2 CALM3
11 spindle microtubule GO:0005876 9.33 CALM1 CALM2 CALM3
12 calcium channel complex GO:0034704 9.13 CALM1 CALM2 CALM3
13 catalytic complex GO:1902494 8.8 CALM1 CALM2 CALM3

Biological processes related to Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant according to GeneCards Suite gene sharing:

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 calcium-mediated signaling GO:0019722 9.77 CALM1 CALM2 CALM3
2 response to calcium ion GO:0051592 9.77 CALM1 CALM2 CALM3
3 positive regulation of protein serine/threonine kinase activity GO:0071902 9.76 CALM1 CALM2 CALM3
4 substantia nigra development GO:0021762 9.74 CALM1 CALM2 CALM3
5 regulation of cytokinesis GO:0032465 9.73 CALM1 CALM2 CALM3
6 regulation of heart rate GO:0002027 9.72 CALM1 CALM2 CALM3
7 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.71 CALM1 CALM2 CALM3
8 positive regulation of protein dephosphorylation GO:0035307 9.7 CALM1 CALM2 CALM3
9 positive regulation of protein autophosphorylation GO:0031954 9.69 CALM1 CALM2 CALM3
10 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.67 CALM1 CALM2 CALM3
11 regulation of synaptic vesicle exocytosis GO:2000300 9.65 CALM1 CALM3
12 response to amphetamine GO:0001975 9.65 CALM1 CALM3
13 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.65 CALM1 CALM2 CALM3
14 activation of adenylate cyclase activity GO:0007190 9.64 CALM1 CALM3
15 positive regulation of DNA binding GO:0043388 9.64 CALM2 CALM3
16 positive regulation of nitric-oxide synthase activity GO:0051000 9.63 CALM1 CALM3
17 response to corticosterone GO:0051412 9.63 CALM1 CALM3
18 regulation of cardiac muscle contraction GO:0055117 9.63 CALM1 CALM2 CALM3
19 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.62 CALM1 CALM3
20 regulation of synaptic vesicle endocytosis GO:1900242 9.62 CALM1 CALM3
21 establishment of protein localization to membrane GO:0090150 9.61 CALM1 CALM3
22 regulation of high voltage-gated calcium channel activity GO:1901841 9.61 CALM1 CALM3
23 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.61 CALM1 CALM2 CALM3
24 establishment of protein localization to mitochondrial membrane GO:0090151 9.58 CALM1 CALM3
25 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.58 CALM1 CALM2 CALM3
26 detection of calcium ion GO:0005513 9.54 CALM1 CALM2 CALM3
27 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.5 CALM1 CALM2 CALM3
28 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.43 CALM1 CALM2 CALM3
29 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.33 CALM1 CALM2 CALM3
30 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.13 CALM1 CALM2 CALM3
31 positive regulation by host of symbiont cAMP-mediated signal transduction GO:0075206 8.8 CALM1 CALM2 CALM3

Molecular functions related to Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.74 CALM1 CALM2 CALM3
2 protein domain specific binding GO:0019904 9.72 CALM1 CALM2 CALM3
3 ion channel binding GO:0044325 9.63 CALM1 CALM2 CALM3
4 protein N-terminus binding GO:0047485 9.58 CALM1 CALM3
5 disordered domain specific binding GO:0097718 9.58 CALM1 CALM2 CALM3
6 calcium-dependent protein binding GO:0048306 9.56 CALM1 CALM3
7 enzyme regulator activity GO:0030234 9.54 CALM1 CALM3
8 protein serine/threonine kinase activator activity GO:0043539 9.54 CALM1 CALM2 CALM3
9 phosphatidylinositol 3-kinase binding GO:0043548 9.52 CALM1 CALM3
10 nitric-oxide synthase binding GO:0050998 9.51 CALM1 CALM3
11 titin binding GO:0031432 9.5 CALM1 CALM2 CALM3
12 calcium channel inhibitor activity GO:0019855 9.49 CALM1 CALM2
13 nitric-oxide synthase regulator activity GO:0030235 9.48 CALM1 CALM3
14 type 3 metabotropic glutamate receptor binding GO:0031800 9.43 CALM1 CALM3
15 adenylate cyclase binding GO:0008179 9.43 CALM1 CALM2 CALM3
16 protein phosphatase activator activity GO:0072542 9.33 CALM1 CALM2 CALM3
17 adenylate cyclase activator activity GO:0010856 9.13 CALM1 CALM2 CALM3
18 N-terminal myristoylation domain binding GO:0031997 8.8 CALM1 CALM2 CALM3

Sources for Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
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46 MGI
49 NCI
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51 NDF-RT
54 NINDS
55 Novoseek
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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