CMD1O
MCID: CRD105
MIFTS: 41

Cardiomyopathy, Dilated, 1o (CMD1O)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Cardiomyopathy, Dilated, 1o

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1o:

Name: Cardiomyopathy, Dilated, 1o 56 13 71
Dilated Cardiomyopathy 1o 12 29 6 15
Cmd1o 56 12 73
Dilated Cardiomyopathy with Ventricular Tachycardia 12 73
Cardiomyopathy, Dilated, with Ventricular Tachycardia 56
Cardiomyopathy, Dilated, Type 1o 39
Cardiomyopathy, Dilated 1o 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
cardiomyopathy, dilated, 1o:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110451
OMIM 56 608569
OMIM Phenotypic Series 56 PS115200
MeSH 43 D002311
ICD10 32 I42.0
MedGen 41 C1837839
UMLS 71 C1837839

Summaries for Cardiomyopathy, Dilated, 1o

UniProtKB/Swiss-Prot : 73 Cardiomyopathy, dilated 1O: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

MalaCards based summary : Cardiomyopathy, Dilated, 1o, also known as dilated cardiomyopathy 1o, is related to cantú syndrome and related disorders and munchausen by proxy. An important gene associated with Cardiomyopathy, Dilated, 1o is ABCC9 (ATP Binding Cassette Subfamily C Member 9), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Transmission across Chemical Synapses. Affiliated tissues include heart, and related phenotypes are dilated cardiomyopathy and ventricular tachycardia

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the ABCC9 gene on chromosome 12p12.1.

More information from OMIM: 608569 PS115200

Related Diseases for Cardiomyopathy, Dilated, 1o

Diseases in the Rare Cardiomyopathy family:

Cardiomyopathy, Dilated, 1a Cardiomyopathy, Dilated, 3b
Cardiomyopathy, Dilated, 1b Cardiomyopathy, Dilated, 1e
Cardiomyopathy, Dilated, 1d Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1h Cardiomyopathy, Dilated, 1i
Cardiomyopathy, Dilated, 1j Cardiomyopathy, Dilated, 1k
Cardiomyopathy, Dilated, 1l Cardiomyopathy, Dilated, 1m
Cardiomyopathy, Dilated, 1o Cardiomyopathy, Dilated, 1p
Cardiomyopathy, Dilated, 1q Cardiomyopathy, Dilated, 1w
Cardiomyopathy, Dilated, 1x Cardiomyopathy, Dilated, 1z
Cardiomyopathy, Dilated, 2a Cardiomyopathy, Dilated, 1bb
Cardiomyopathy, Dilated, 1cc Cardiomyopathy, Dilated, 1dd
Cardiomyopathy, Dilated, 1ee Cardiomyopathy, Dilated, 1ff
Cardiomyopathy, Dilated, 1r Cardiomyopathy, Dilated, 1gg
Cardiomyopathy, Dilated, 1u Cardiomyopathy, Dilated, 1v
Cardiomyopathy, Dilated, 1hh Cardiomyopathy, Dilated, 2b
Cardiomyopathy, Dilated, 1ii Cardiomyopathy, Dilated, 1jj
Cardiomyopathy, Dilated, 1kk Cardiomyopathy, Dilated, 1nn
Cardiomyopathy, Dilated, 2c Autoimmune Cardiomyopathy
Dilated Cardiomyopathy 1t Dilated Cardiomyopathy
Lmna-Related Dilated Cardiomyopathy Cardiomyopathy Due to Anthracyclines

Diseases related to Cardiomyopathy, Dilated, 1o via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 cantú syndrome and related disorders 10.4 KCNJ8 ABCC9
2 munchausen by proxy 10.4 KCNJ11 ABCC8
3 maturity-onset diabetes of the young, type 11 10.4 KCNJ11 ABCC8
4 acute insulin response 10.4 KCNJ11 ABCC8
5 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 10.4 KCNJ11 ABCC8
6 maturity-onset diabetes of the young, type 13 10.3 KCNJ11 ABCC8
7 maturity-onset diabetes of the young, type 10 10.3 KCNJ11 ABCC8
8 hyperinsulinemic hypoglycemia, familial, 7 10.3 KCNJ11 ABCC8
9 maturity-onset diabetes of the young, type 7 10.3 KCNJ11 ABCC8
10 maturity-onset diabetes of the young, type 9 10.3 KCNJ11 ABCC8
11 maturity-onset diabetes of the young, type 6 10.3 KCNJ11 ABCC8
12 asphyxia neonatorum 10.3 KCNJ11 ABCC8
13 hypertrichosis 10.2 KCNJ8 KCNJ11 ABCC9
14 brugada syndrome 1 10.2 KCNJ8 KCNA5
15 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.2 KCNJ11 ABCC8
16 ulnar neuropathy 10.2 SERPINI2 PDHX
17 carbohydrate metabolic disorder 10.1 KCNJ11 GALT ABCC8
18 hyperinsulinemic hypoglycemia, familial, 1 10.1 KCNJ11 ABCC8
19 atrial standstill 1 10.1
20 dilated cardiomyopathy 10.1
21 long qt syndrome 1 10.1 KCNJ8 KCNJ11 KCNA5
22 cantu syndrome 10.1 KCNJ8 KCNJ11 ABCC9 ABCC8
23 fanconi-bickel syndrome 10.1 SLC2A2 ABCC8
24 sinoatrial node disease 10.1 KCNJ8 GJA1
25 renal cysts and diabetes syndrome 10.0 KCNJ11 ABCC8
26 maturity-onset diabetes of the young, type 4 10.0 SLC2A2 KCNJ11 ABCC8
27 diabetes mellitus, permanent neonatal 4 10.0 SLC2A2 KCNJ11 ABCC8
28 maturity-onset diabetes of the young, type 2 10.0 SLC2A2 KCNJ11 ABCC8
29 maturity-onset diabetes of the young, type 3 10.0 SLC2A2 KCNJ11 ABCC8
30 maturity-onset diabetes of the young, type 1 10.0 SLC2A2 KCNJ11 ABCC8
31 rare diabetes mellitus type 2 10.0 SLC2A2 KCNJ11 ABCC8
32 transient neonatal diabetes mellitus 10.0 SLC2A2 KCNJ11 ABCC8
33 galactosemia iii 9.9 SLC2A2 GALT
34 monogenic diabetes 9.9 KCNJ11 ABCC8
35 insulinoma 9.9 SLC2A2 KCNA5 ABCC8
36 neonatal diabetes mellitus 9.8 SLC2A2 KCNJ8 KCNJ11 ABCC8
37 familial atrial fibrillation 9.8 KCNJ8 KCNJ11 KCNA5 GJA1 ABCC9
38 brugada syndrome 9.8 KCNJ8 KCNJ11 KCNA5 GJA1 ABCC9

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1o

Human phenotypes related to Cardiomyopathy, Dilated, 1o:

31
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 31 very rare (1%) HP:0001644
2 ventricular tachycardia 31 very rare (1%) HP:0004756
3 impaired myocardial contractility 31 very rare (1%) HP:0006670

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
dilated cardiomyopathy
ventricular tachycardia
heart failure

Clinical features from OMIM:

608569

MGI Mouse Phenotypes related to Cardiomyopathy, Dilated, 1o:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.76 ABCC8 GALT GJA1 KCNJ11 SERPINI2 SLC2A2
2 homeostasis/metabolism MP:0005376 9.73 A4GALT ABCB5 ABCC8 ABCC9 GALT GJA1
3 mortality/aging MP:0010768 9.36 A4GALT ABCC9 GALT GJA1 KCNJ11 KCNJ8

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1o

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Dilated, 1o

Genetic Tests for Cardiomyopathy, Dilated, 1o

Genetic tests related to Cardiomyopathy, Dilated, 1o:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1o 29 ABCC9

Anatomical Context for Cardiomyopathy, Dilated, 1o

MalaCards organs/tissues related to Cardiomyopathy, Dilated, 1o:

40
Heart

Publications for Cardiomyopathy, Dilated, 1o

Articles related to Cardiomyopathy, Dilated, 1o:

# Title Authors PMID Year
1
ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. 6 56
15034580 2004
2
Dilated Cardiomyopathy Overview 6
20301486 2007
3
Human K(ATP) channelopathies: diseases of metabolic homeostasis. 61
20033705 2010

Variations for Cardiomyopathy, Dilated, 1o

ClinVar genetic disease variations for Cardiomyopathy, Dilated, 1o:

6 (show top 50) (show all 261) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCC9 ABCC9, 3-BP DEL, 4-BP INS, EX38indel Pathogenic 8161
2 ABCC9 NM_020297.3(ABCC9):c.4537G>A (p.Ala1513Thr)SNV Pathogenic 8162 rs121909304 12:21954091-21954091 12:21801157-21801157
3 ABCC9 NM_005691.3(ABCC9):c.3460C>T (p.Arg1154Trp)SNV Pathogenic 31946 rs387907208 12:21995261-21995261 12:21842327-21842327
4 ABCC9 NM_005691.3(ABCC9):c.3461G>A (p.Arg1154Gln)SNV Pathogenic 31947 rs387907209 12:21995260-21995260 12:21842326-21842326
5 ABCC9 NM_005691.3(ABCC9):c.3346C>T (p.Arg1116Cys)SNV Pathogenic 35534 rs387907228 12:21995375-21995375 12:21842441-21842441
6 ABCC9 NM_005691.3(ABCC9):c.3796G>A (p.Val1266Met)SNV Likely pathogenic 464667 rs1555179320 12:21970217-21970217 12:21817283-21817283
7 ABCC9 NM_005691.3(ABCC9):c.3574A>G (p.Thr1192Ala)SNV Conflicting interpretations of pathogenicity 464664 rs1437273344 12:21981987-21981987 12:21829053-21829053
8 ABCC9 NM_005691.3(ABCC9):c.3357G>A (p.Leu1119=)SNV Conflicting interpretations of pathogenicity 510652 rs2287626 12:21995364-21995364 12:21842430-21842430
9 ABCC9 NM_005691.3(ABCC9):c.133T>C (p.Leu45=)SNV Conflicting interpretations of pathogenicity 512729 rs1555125400 12:22089476-22089476 12:21936542-21936542
10 ABCC9 NM_005691.3(ABCC9):c.3589C>T (p.Arg1197Cys)SNV Conflicting interpretations of pathogenicity 410818 rs778849288 12:21981972-21981972 12:21829038-21829038
11 ABCC9 NM_005691.3(ABCC9):c.817-14_817-4delshort repeat Conflicting interpretations of pathogenicity 416407 rs774857795 12:22066004-22066014 12:21913070-21913080
12 ABCC9 NM_005691.3(ABCC9):c.3331T>C (p.Leu1111=)SNV Conflicting interpretations of pathogenicity 416405 rs764155671 12:21995390-21995390 12:21842456-21842456
13 ABCC9 NM_005691.3(ABCC9):c.2927A>T (p.Lys976Ile)SNV Conflicting interpretations of pathogenicity 423984 rs149319186 12:21998706-21998706 12:21845772-21845772
14 ABCC9 NM_020297.3(ABCC9):c.305T>C (p.Leu102Pro)SNV Conflicting interpretations of pathogenicity 426305 rs374659816 12:22078977-22078977 12:21926043-21926043
15 ABCC9 NM_005691.3(ABCC9):c.1374C>T (p.Val458=)SNV Conflicting interpretations of pathogenicity 533291 rs200819464 12:22061092-22061092 12:21908158-21908158
16 ABCC9 NM_005691.3(ABCC9):c.-11T>CSNV Conflicting interpretations of pathogenicity 35625 rs72559432 12:22089619-22089619 12:21936685-21936685
17 ABCC9 NM_020297.3(ABCC9):c.2200G>A (p.Val734Ile)SNV Conflicting interpretations of pathogenicity 35627 rs61688134 12:22017410-22017410 12:21864476-21864476
18 ABCC9 NM_020297.3(ABCC9):c.2523C>T (p.Ala841=)SNV Conflicting interpretations of pathogenicity 35628 rs144537241 12:22005422-22005422 12:21852488-21852488
19 ABCC9 NM_005691.3(ABCC9):c.2554C>T (p.Gln852Ter)SNV Conflicting interpretations of pathogenicity 35629 rs193922683 12:22005391-22005391 12:21852457-21852457
20 ABCC9 NM_005691.3(ABCC9):c.4512+7A>GSNV Conflicting interpretations of pathogenicity 510223 rs371646433 12:21958925-21958925 12:21805991-21805991
21 ABCC9 NM_005691.3(ABCC9):c.4512T>A (p.Ala1504=)SNV Conflicting interpretations of pathogenicity 506551 rs777591544 12:21958932-21958932 12:21805998-21805998
22 ABCC9 NM_005691.3(ABCC9):c.6C>T (p.Ser2=)SNV Conflicting interpretations of pathogenicity 514309 rs765382139 12:22089603-22089603 12:21936669-21936669
23 ABCC9 NM_020297.3(ABCC9):c.3768T>C (p.Leu1256=)SNV Conflicting interpretations of pathogenicity 35633 rs150303433 12:21971087-21971087 12:21818153-21818153
24 ABCC9 NM_005691.3(ABCC9):c.4450-5deldeletion Conflicting interpretations of pathogenicity 35634 rs4148680 12:21958999-21958999 12:21806065-21806065
25 ABCC9 NM_005691.3(ABCC9):c.2644-11G>ASNV Conflicting interpretations of pathogenicity 35631 rs61926078 12:22005167-22005167 12:21852233-21852233
26 ABCC9 NM_005691.3(ABCC9):c.1165-19dupduplication Conflicting interpretations of pathogenicity 45385 rs35857705 12:22063251-22063252 12:21910317-21910318
27 ABCC9 NM_020297.3(ABCC9):c.1557G>A (p.Glu519=)SNV Conflicting interpretations of pathogenicity 45388 rs143346402 12:22059121-22059121 12:21906187-21906187
28 ABCC9 NM_020297.3(ABCC9):c.1887G>T (p.Glu629Asp)SNV Conflicting interpretations of pathogenicity 45392 rs150036969 12:22040784-22040784 12:21887850-21887850
29 ABCC9 NM_020297.3(ABCC9):c.2050G>A (p.Gly684Ser)SNV Conflicting interpretations of pathogenicity 45397 rs148174226 12:22028630-22028630 12:21875696-21875696
30 ABCC9 NM_005691.3(ABCC9):c.2093-7T>CSNV Conflicting interpretations of pathogenicity 45399 rs185235724 12:22025671-22025671 12:21872737-21872737
31 ABCC9 NM_020297.3(ABCC9):c.2262T>C (p.Tyr754=)SNV Conflicting interpretations of pathogenicity 45403 rs145561881 12:22015964-22015964 12:21863030-21863030
32 ABCC9 NM_020297.3(ABCC9):c.2862C>T (p.Asp954=)SNV Conflicting interpretations of pathogenicity 45407 rs2291550 12:22001088-22001088 12:21848154-21848154
33 ABCC9 NM_020297.3(ABCC9):c.372T>C (p.Asn124=)SNV Conflicting interpretations of pathogenicity 45410 rs377384557 12:22078910-22078910 12:21925976-21925976
34 ABCC9 NM_005691.3(ABCC9):c.407-14C>ASNV Conflicting interpretations of pathogenicity 45412 rs201279882 12:22070051-22070051 12:21917117-21917117
35 ABCC9 NM_020297.3(ABCC9):c.918G>A (p.Leu306=)SNV Conflicting interpretations of pathogenicity 45423 rs142115849 12:22065899-22065899 12:21912965-21912965
36 ABCC9 NM_005691.3(ABCC9):c.2770-13A>GSNV Conflicting interpretations of pathogenicity 162686 rs184123387 12:22001193-22001193 12:21848259-21848259
37 ABCC9 NM_005691.3(ABCC9):c.2238-1G>ASNV Conflicting interpretations of pathogenicity 162688 rs141281214 12:22015989-22015989 12:21863055-21863055
38 ABCC9 NM_005691.3(ABCC9):c.1875G>A (p.Ser625=)SNV Conflicting interpretations of pathogenicity 162690 rs727502873 12:22040796-22040796 12:21887862-21887862
39 ABCC9 NM_005691.3(ABCC9):c.2199-6T>CSNV Conflicting interpretations of pathogenicity 180001 rs535477725 12:22017417-22017417 12:21864483-21864483
40 ABCC9 NM_020297.3(ABCC9):c.3339T>G (p.Ser1113=)SNV Conflicting interpretations of pathogenicity 178001 rs138280089 12:21995382-21995382 12:21842448-21842448
41 ABCC9 NM_005691.3(ABCC9):c.4572_4573insT (p.Val1525fs)insertion Conflicting interpretations of pathogenicity 192108 rs761784169 12:21958185-21958186 12:21805251-21805252
42 ABCC9 NM_005691.3(ABCC9):c.287G>A (p.Arg96Gln)SNV Conflicting interpretations of pathogenicity 191591 rs202103893 12:22078995-22078995 12:21926061-21926061
43 ABCC9 NM_005691.3(ABCC9):c.2826T>C (p.Tyr942=)SNV Conflicting interpretations of pathogenicity 201611 rs141025897 12:22001124-22001124 12:21848190-21848190
44 ABCC9 NM_005691.3(ABCC9):c.3316-4A>CSNV Conflicting interpretations of pathogenicity 240205 rs201147809 12:21995409-21995409 12:21842475-21842475
45 ABCC9 NM_005691.3(ABCC9):c.4570_4572delinsAAAT (p.Leu1524fs)indel Conflicting interpretations of pathogenicity 222477 rs869025349 12:21958186-21958188 12:21805252-21805254
46 ABCC9 NM_005691.3(ABCC9):c.1332C>T (p.Gly444=)SNV Conflicting interpretations of pathogenicity 308041 rs369830406 12:22061134-22061134 12:21908200-21908200
47 ABCC9 NM_005691.3(ABCC9):c.1659+10T>CSNV Conflicting interpretations of pathogenicity 308040 rs201753781 12:22048199-22048199 12:21895265-21895265
48 ABCC9 NM_005691.3(ABCC9):c.1988G>A (p.Arg663His)SNV Conflicting interpretations of pathogenicity 373352 rs141999048 12:22035731-22035731 12:21882797-21882797
49 ABCC9 NM_020297.3(ABCC9):c.1933A>G (p.Lys645Glu)SNV Uncertain significance 228419 rs876657734 12:22035786-22035786 12:21882852-21882852
50 ABCC9 NM_005691.3(ABCC9):c.669G>T (p.Leu223=)SNV Uncertain significance 308045 rs17846788 12:22068749-22068749 12:21915815-21915815

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Dilated, 1o:

73
# Symbol AA change Variation ID SNP ID
1 ABCC9 p.Ala1513Thr VAR_018483 rs72559751

Expression for Cardiomyopathy, Dilated, 1o

Search GEO for disease gene expression data for Cardiomyopathy, Dilated, 1o.

Pathways for Cardiomyopathy, Dilated, 1o

Pathways related to Cardiomyopathy, Dilated, 1o according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.99 TRPM7 SLC2A2 PSMB8 KCNJ11 ABCC9 ABCC8
2
Show member pathways
12.65 KCNJ8 KCNJ11 KCNA5 ABCC9 ABCC8
3
Show member pathways
11.53 SLC2A2 KCNJ11 ABCC8
4
Show member pathways
11.52 KCNJ8 KCNJ11 ABCC9 ABCC8
5
Show member pathways
11.52 KCNJ8 KCNJ11 KCNA5 ABCC9 ABCC8
6 11.08 SLC2A2 KCNJ11 ABCC8
7 10.85 KCNJ8 KCNJ11 KCNA5 GJA1 ABCC9 ABCC8

GO Terms for Cardiomyopathy, Dilated, 1o

Cellular components related to Cardiomyopathy, Dilated, 1o according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.06 TRPM7 SLC2A2 SERPINB13 KCNJ8 KCNJ11 KCNA5
2 sarcolemma GO:0042383 9.43 KCNJ8 KCNJ11 ABCC8
3 intercalated disc GO:0014704 9.33 KCNJ11 KCNA5 GJA1
4 potassium ion-transporting ATPase complex GO:0031004 9.13 KCNJ8 ABCC9 ABCC8
5 inward rectifying potassium channel GO:0008282 8.92 KCNJ8 KCNJ11 ABCC9 ABCC8

Biological processes related to Cardiomyopathy, Dilated, 1o according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.76 TRPM7 KCNJ8 KCNJ11 GJA1
2 response to lipopolysaccharide GO:0032496 9.71 KCNJ8 GJA1 ABCC8
3 regulation of ion transmembrane transport GO:0034765 9.7 KCNJ8 KCNJ11 KCNA5
4 regulation of membrane potential GO:0042391 9.65 KCNJ11 KCNA5 ABCB5
5 potassium ion transport GO:0006813 9.65 KCNJ8 KCNJ11 KCNA5 ABCC9 ABCC8
6 regulation of insulin secretion GO:0050796 9.62 SLC2A2 KCNJ11 KCNA5 ABCC8
7 transmembrane transport GO:0055085 9.61 TRPM7 SLC2A2 PSMB8 KCNJ11 KCNA5 GJA1
8 negative regulation of insulin secretion GO:0046676 9.55 KCNJ11 ABCC8
9 potassium ion transmembrane transport GO:0071805 9.55 KCNJ8 KCNJ11 KCNA5 ABCC9 ABCC8
10 potassium ion import across plasma membrane GO:1990573 9.54 KCNJ8 KCNJ11 ABCC9
11 negative regulation of wound healing GO:0061045 9.51 GJA1 ABCC8
12 response to ATP GO:0033198 9.49 KCNJ11 ABCC9
13 response to pH GO:0009268 9.43 GJA1 ABCC8
14 atrial cardiac muscle cell action potential GO:0086014 9.4 KCNA5 GJA1
15 inorganic cation transmembrane transport GO:0098662 8.92 KCNJ8 KCNJ11 ABCC9 ABCC8

Molecular functions related to Cardiomyopathy, Dilated, 1o according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.63 KCNJ8 KCNJ11 KCNA5
2 ion channel binding GO:0044325 9.61 KCNJ11 ABCC9 ABCC8
3 potassium channel activity GO:0005267 9.5 KCNA5 ABCC9 ABCC8
4 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.43 ABCC9 ABCC8 ABCB5
5 inward rectifier potassium channel activity GO:0005242 9.4 KCNJ8 KCNJ11
6 efflux transmembrane transporter activity GO:0015562 9.37 GJA1 ABCB5
7 cation-transporting ATPase activity GO:0019829 9.26 KCNJ8 KCNJ11 ABCC9 ABCC8
8 sulfonylurea receptor activity GO:0008281 9.16 ABCC9 ABCC8
9 ATP-activated inward rectifier potassium channel activity GO:0015272 8.92 KCNJ8 KCNJ11 ABCC9 ABCC8

Sources for Cardiomyopathy, Dilated, 1o

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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