CMD1O
MCID: CRD105
MIFTS: 43

Cardiomyopathy, Dilated, 1o (CMD1O)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1o

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1o:

Name: Cardiomyopathy, Dilated, 1o 57 13 70
Dilated Cardiomyopathy 1o 12 29 6 15
Cmd1o 57 12 72
Dilated Cardiomyopathy with Ventricular Tachycardia 12 72
Cardiomyopathy, Dilated, with Ventricular Tachycardia 57
Cardiomyopathy, Dilated, Type 1o 39
Cardiomyopathy, Dilated 1o 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0110451
OMIM® 57 608569
OMIM Phenotypic Series 57 PS115200
MeSH 44 D002311
ICD10 32 I42.0
MedGen 41 C1837839
UMLS 70 C1837839

Summaries for Cardiomyopathy, Dilated, 1o

UniProtKB/Swiss-Prot : 72 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 munchausen by proxy and factitious disorder. 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 46)
# Related Disease Score Top Affiliating Genes
1 munchausen by proxy 10.2 KCNJ11 ABCC8
2 factitious disorder 10.2 KCNJ11 ABCC8
3 acute insulin response 10.2 KCNJ11 ABCC8
4 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 10.2 KCNJ11 ABCC8
5 maturity-onset diabetes of the young, type 13 10.2 KCNJ11 ABCC8
6 maturity-onset diabetes of the young, type 11 10.2 KCNJ11 ABCC8
7 hyperinsulinemic hypoglycemia, familial, 7 10.2 KCNJ11 ABCC8
8 maturity-onset diabetes of the young, type 7 10.2 KCNJ11 ABCC8
9 maturity-onset diabetes of the young, type 9 10.2 KCNJ11 ABCC8
10 asphyxia neonatorum 10.2 KCNJ11 ABCC8
11 hyperinsulinemic hypoglycemia, familial, 6 10.2 KCNJ11 ABCC8
12 maturity-onset diabetes of the young, type 6 10.2 KCNJ11 ABCC8
13 maturity-onset diabetes of the young, type 10 10.2 KCNJ11 ABCC8
14 atrial standstill 1 10.2
15 dilated cardiomyopathy 10.2
16 diabetes mellitus, ketosis-prone 10.1 KCNJ11 ABCC8
17 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.1 KCNJ11 ABCC8
18 renal cysts and diabetes syndrome 10.1 KCNJ11 ABCC8
19 brugada syndrome 1 10.1 KCNJ8 KCNA5
20 coronary artery vasospasm 10.1 KCNJ8 KCNJ11 ABCC8
21 umbilical hernia 10.1 KCNJ11 ABCC8
22 fanconi-bickel syndrome 10.0 SLC2A2 ABCC8
23 monogenic diabetes 10.0 KCNJ11 ABCC8
24 corneal dystrophy, meesmann, 1 10.0 SERPINI2 SERPINB13
25 maturity-onset diabetes of the young, type 4 10.0 SLC2A2 KCNJ11 ABCC8
26 maturity-onset diabetes of the young, type 2 9.9 SLC2A2 KCNJ11 ABCC8
27 maturity-onset diabetes of the young, type 1 9.9 SLC2A2 KCNJ11 ABCC8
28 maturity-onset diabetes of the young, type 3 9.9 SLC2A2 KCNJ11 ABCC8
29 pancreatic agenesis 9.9 SLC2A2 KCNJ11 ABCC8
30 cantu syndrome 9.9 KCNJ8 KCNJ11 ABCC9 ABCC8
31 transient neonatal diabetes mellitus 9.9 SLC2A2 KCNJ11 ABCC8
32 hypertrichosis 9.9 KCNJ8 KCNJ11 ABCC9 ABCC8
33 pancreatic cystadenoma 9.9 SLC2A2 ABCC8
34 hypoglycemia 9.9 SLC2A2 KCNJ11 ABCC8
35 glucose metabolism disease 9.9 SLC2A2 KCNJ11 ABCC8
36 atrial fibrillation 9.9 KCNA5 GJA1 ABCC9
37 hyperinsulinemic hypoglycemia, familial, 1 9.8 KCNJ11 ABCC8
38 hyperglycemia 9.8 SLC2A2 KCNJ11 ABCC8
39 insulinoma 9.8 SLC2A2 KCNA5 ABCC8
40 long qt syndrome 1 9.8 KCNJ8 KCNJ11 KCNA5 ABCC8
41 permanent neonatal diabetes mellitus 9.8 SLC2A2 KCNJ8 KCNJ11 ABCC8
42 neonatal diabetes 9.8 SLC2A2 KCNJ8 KCNJ11 ABCC8
43 myasthenic syndrome, congenital, 5 9.7 KCNA5 GJA1
44 heart conduction disease 9.7 KCNJ8 KCNJ11 KCNA5 GJA1
45 familial atrial fibrillation 9.6 KCNJ8 KCNJ11 KCNA5 GJA1 ABCC9
46 brugada syndrome 9.5 KCNJ8 KCNJ11 KCNA5 GJA1 ABCC9

Graphical network of the top 20 diseases related to Cardiomyopathy, Dilated, 1o:



Diseases related to Cardiomyopathy, Dilated, 1o

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®:

57 (Updated 05-Apr-2021)
Cardiovascular Heart:
dilated cardiomyopathy
ventricular tachycardia
heart failure

Clinical features from OMIM®:

608569 (Updated 05-Apr-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.61 ABCB5 ABCC8 ABCC9 GJA1 KCNA5 KCNJ11
2 muscle MP:0005369 9.1 ABCC9 GJA1 KCNA5 KCNJ11 KCNJ8 SLC2A2

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 57
15034580 2004
2
Neurologic and neuroimaging manifestations of Cantú syndrome: A case series. 6
27316244 2016
3
De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder. 6
26871653 2016
4
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 6
25590979 2015
5
Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9. 6
23307537 2013
6
Cantú syndrome is caused by mutations in ABCC9. 6
22608503 2012
7
Dominant missense mutations in ABCC9 cause Cantú syndrome. 6
22610116 2012
8
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 355)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ABCC9 ABCC9, 3-BP DEL, 4-BP INS, EX38 Indel Pathogenic 8161 GRCh37:
GRCh38:
2 ABCC9 NM_020297.3(ABCC9):c.4537G>A (p.Ala1513Thr) SNV Pathogenic 8162 rs121909304 GRCh37: 12:21954091-21954091
GRCh38: 12:21801157-21801157
3 ABCC9 NM_005691.3(ABCC9):c.3346C>T (p.Arg1116Cys) SNV Pathogenic 35534 rs387907228 GRCh37: 12:21995375-21995375
GRCh38: 12:21842441-21842441
4 ABCC9 NM_005691.3(ABCC9):c.4572_4573insT (p.Val1525fs) Insertion Pathogenic 192108 rs761784169 GRCh37: 12:21958185-21958186
GRCh38: 12:21805251-21805252
5 ABCC9 NM_005691.3(ABCC9):c.3347G>A (p.Arg1116His) SNV Pathogenic 35533 rs387907227 GRCh37: 12:21995374-21995374
GRCh38: 12:21842440-21842440
6 ABCC9 NM_020297.3(ABCC9):c.3460C>T (p.Arg1154Trp) SNV Pathogenic 31946 rs387907208 GRCh37: 12:21995261-21995261
GRCh38: 12:21842327-21842327
7 ABCC9 NM_020297.3(ABCC9):c.3461G>A (p.Arg1154Gln) SNV Pathogenic 31947 rs387907209 GRCh37: 12:21995260-21995260
GRCh38: 12:21842326-21842326
8 ABCC9 NM_005691.4(ABCC9):c.1664T>C (p.Phe555Ser) SNV Likely pathogenic 1034207 GRCh37: 12:22047104-22047104
GRCh38: 12:21894170-21894170
9 ABCC9 NM_005691.3(ABCC9):c.3796G>A (p.Val1266Met) SNV Likely pathogenic 464667 rs1555179320 GRCh37: 12:21970217-21970217
GRCh38: 12:21817283-21817283
10 ABCC9 NM_005691.3(ABCC9):c.3316-4A>C SNV Conflicting interpretations of pathogenicity 240205 rs201147809 GRCh37: 12:21995409-21995409
GRCh38: 12:21842475-21842475
11 ABCC9 NM_005691.3(ABCC9):c.1332C>T (p.Gly444=) SNV Conflicting interpretations of pathogenicity 308041 rs369830406 GRCh37: 12:22061134-22061134
GRCh38: 12:21908200-21908200
12 ABCC9 NM_005691.3(ABCC9):c.1887G>T (p.Glu629Asp) SNV Conflicting interpretations of pathogenicity 45392 rs150036969 GRCh37: 12:22040784-22040784
GRCh38: 12:21887850-21887850
13 ABCC9 NM_005691.3(ABCC9):c.2093-7T>C SNV Conflicting interpretations of pathogenicity 45399 rs185235724 GRCh37: 12:22025671-22025671
GRCh38: 12:21872737-21872737
14 ABCC9 NM_005691.3(ABCC9):c.2050G>A (p.Gly684Ser) SNV Conflicting interpretations of pathogenicity 45397 rs148174226 GRCh37: 12:22028630-22028630
GRCh38: 12:21875696-21875696
15 ABCC9 NM_005691.3(ABCC9):c.3768T>C (p.Leu1256=) SNV Conflicting interpretations of pathogenicity 35633 rs150303433 GRCh37: 12:21971087-21971087
GRCh38: 12:21818153-21818153
16 ABCC9 NM_005691.3(ABCC9):c.3589C>T (p.Arg1197Cys) SNV Conflicting interpretations of pathogenicity 410818 rs778849288 GRCh37: 12:21981972-21981972
GRCh38: 12:21829038-21829038
17 ABCC9 NM_005691.3(ABCC9):c.3357G>A (p.Leu1119=) SNV Conflicting interpretations of pathogenicity 510652 rs2287626 GRCh37: 12:21995364-21995364
GRCh38: 12:21842430-21842430
18 ABCC9 NM_005691.3(ABCC9):c.3339T>G (p.Ser1113=) SNV Conflicting interpretations of pathogenicity 178001 rs138280089 GRCh37: 12:21995382-21995382
GRCh38: 12:21842448-21842448
19 ABCC9 NM_005691.3(ABCC9):c.2200G>A (p.Val734Ile) SNV Conflicting interpretations of pathogenicity 35627 rs61688134 GRCh37: 12:22017410-22017410
GRCh38: 12:21864476-21864476
20 ABCC9 NM_005691.3(ABCC9):c.2862C>T (p.Asp954=) SNV Conflicting interpretations of pathogenicity 45407 rs2291550 GRCh37: 12:22001088-22001088
GRCh38: 12:21848154-21848154
21 ABCC9 NM_005691.3(ABCC9):c.2523C>T (p.Ala841=) SNV Conflicting interpretations of pathogenicity 35628 rs144537241 GRCh37: 12:22005422-22005422
GRCh38: 12:21852488-21852488
22 ABCC9 NM_005691.3(ABCC9):c.372T>C (p.Asn124=) SNV Conflicting interpretations of pathogenicity 45410 rs377384557 GRCh37: 12:22078910-22078910
GRCh38: 12:21925976-21925976
23 ABCC9 NM_005691.3(ABCC9):c.2826T>C (p.Tyr942=) SNV Conflicting interpretations of pathogenicity 201611 rs141025897 GRCh37: 12:22001124-22001124
GRCh38: 12:21848190-21848190
24 ABCC9 NM_005691.3(ABCC9):c.1557G>A (p.Glu519=) SNV Conflicting interpretations of pathogenicity 45388 rs143346402 GRCh37: 12:22059121-22059121
GRCh38: 12:21906187-21906187
25 ABCC9 NM_005691.3(ABCC9):c.2262T>C (p.Tyr754=) SNV Conflicting interpretations of pathogenicity 45403 rs145561881 GRCh37: 12:22015964-22015964
GRCh38: 12:21863030-21863030
26 ABCC9 NM_005691.3(ABCC9):c.1455+4A>C SNV Uncertain significance 519004 rs376587222 GRCh37: 12:22061007-22061007
GRCh38: 12:21908073-21908073
27 ABCC9 NM_005691.3(ABCC9):c.4189A>G (p.Ile1397Val) SNV Uncertain significance 806842 rs1162169303 GRCh37: 12:21965005-21965005
GRCh38: 12:21812071-21812071
28 ABCC9 NM_005691.4(ABCC9):c.1012-9G>A SNV Uncertain significance 999333 GRCh37: 12:22063921-22063921
GRCh38: 12:21910987-21910987
29 ABCC9 NC_000012.11:g.(?_22086706)_(22086867_?)del Deletion Uncertain significance 999896 GRCh37: 12:22086706-22086867
GRCh38:
30 ABCC9 NM_005691.4(ABCC9):c.2721T>G (p.Tyr907Ter) SNV Uncertain significance 1000443 GRCh37: 12:22005079-22005079
GRCh38: 12:21852145-21852145
31 ABCC9 NM_005691.4(ABCC9):c.4544T>G (p.Leu1515Arg) SNV Uncertain significance 1000587 GRCh37: 12:21958214-21958214
GRCh38: 12:21805280-21805280
32 ABCC9 NM_005691.4(ABCC9):c.2983A>G (p.Ile995Val) SNV Uncertain significance 1000857 GRCh37: 12:21998650-21998650
GRCh38: 12:21845716-21845716
33 ABCC9 NM_005691.4(ABCC9):c.38ATA[1] (p.Asn14del) Microsatellite Uncertain significance 1001255 GRCh37: 12:22089566-22089568
GRCh38: 12:21936632-21936634
34 ABCC9 NM_005691.4(ABCC9):c.3266T>A (p.Leu1089Gln) SNV Uncertain significance 1001549 GRCh37: 12:21997466-21997466
GRCh38: 12:21844532-21844532
35 ABCC9 NM_005691.4(ABCC9):c.3316-1G>A SNV Uncertain significance 1002389 GRCh37: 12:21995406-21995406
GRCh38: 12:21842472-21842472
36 ABCC9 NM_005691.4(ABCC9):c.2769+3_2769+6del Deletion Uncertain significance 1002590 GRCh37: 12:22005025-22005028
GRCh38: 12:21852091-21852094
37 ABCC9 NM_005691.4(ABCC9):c.1400C>T (p.Ala467Val) SNV Uncertain significance 1005992 GRCh37: 12:22061066-22061066
GRCh38: 12:21908132-21908132
38 ABCC9 NM_005691.4(ABCC9):c.2644-3T>G SNV Uncertain significance 1006165 GRCh37: 12:22005159-22005159
GRCh38: 12:21852225-21852225
39 ABCC9 NM_005691.4(ABCC9):c.325G>A (p.Val109Met) SNV Uncertain significance 1007756 GRCh37: 12:22078957-22078957
GRCh38: 12:21926023-21926023
40 ABCC9 NM_020297.3(ABCC9):c.2951G>A (p.Arg984His) SNV Uncertain significance 429414 rs148752791 GRCh37: 12:21998682-21998682
GRCh38: 12:21845748-21845748
41 ABCC9 NM_005691.4(ABCC9):c.2818G>T (p.Ala940Ser) SNV Uncertain significance 1009218 GRCh37: 12:22001132-22001132
GRCh38: 12:21848198-21848198
42 ABCC9 NM_020297.3(ABCC9):c.289C>T (p.Arg97Trp) SNV Uncertain significance 162696 rs727502875 GRCh37: 12:22078993-22078993
GRCh38: 12:21926059-21926059
43 ABCC9 NM_005691.4(ABCC9):c.201G>A (p.Pro67=) SNV Uncertain significance 1010707 GRCh37: 12:22086799-22086799
GRCh38: 12:21933865-21933865
44 ABCC9 NM_005691.4(ABCC9):c.4394G>A (p.Arg1465His) SNV Uncertain significance 1011006 GRCh37: 12:21960335-21960335
GRCh38: 12:21807401-21807401
45 ABCC9 NM_020297.3(ABCC9):c.4512+765C>T SNV Uncertain significance 228426 rs142875103 GRCh37: 12:21958167-21958167
GRCh38: 12:21805233-21805233
46 ABCC9 NM_005691.3(ABCC9):c.3315+6T>C SNV Uncertain significance 464663 rs201117578 GRCh37: 12:21997411-21997411
GRCh38: 12:21844477-21844477
47 ABCC9 NM_005691.3(ABCC9):c.2865A>T (p.Glu955Asp) SNV Uncertain significance 533278 rs922212635 GRCh37: 12:22001085-22001085
GRCh38: 12:21848151-21848151
48 ABCC9 NM_005691.3(ABCC9):c.2011G>A (p.Ala671Thr) SNV Uncertain significance 533283 rs1220942080 GRCh37: 12:22035708-22035708
GRCh38: 12:21882774-21882774
49 ABCC9 NM_005691.3(ABCC9):c.4205C>G (p.Ser1402Cys) SNV Uncertain significance 582030 rs369587958 GRCh37: 12:21964989-21964989
GRCh38: 12:21812055-21812055
50 ABCC9 NM_005691.3(ABCC9):c.2591G>A (p.Arg864Lys) SNV Uncertain significance 656428 rs1592071215 GRCh37: 12:22005354-22005354
GRCh38: 12:21852420-21852420

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

72
# 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
13.01 TRPM7 SLC2A2 KCNJ11 ABCC9 ABCC8 ABCB5
2
Show member pathways
12.57 KCNJ8 KCNJ11 KCNA5 ABCC9 ABCC8
3
Show member pathways
12.01 SLC2A2 KCNJ11 ABCC8
4 11.99 KCNJ8 KCNJ11 KCNA5
5
Show member pathways
11.53 SLC2A2 KCNJ11 ABCC8
6
Show member pathways
11.52 KCNJ8 KCNJ11 ABCC9 ABCC8
7
Show member pathways
11.52 KCNJ8 KCNJ11 KCNA5 ABCC9 ABCC8
8 11.08 SLC2A2 KCNJ11 ABCC8
9 10.98 KCNJ8 ABCC9
10 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 plasma membrane GO:0005886 10.06 TRPM7 SLC2A2 KCNJ8 KCNJ11 KCNA5 GJA1
2 integral component of membrane GO:0016021 9.96 TRPM7 SLC2A2 SERPINB13 KCNJ8 KCNJ11 KCNA5
3 integral component of plasma membrane GO:0005887 9.85 TRPM7 SLC2A2 KCNJ11 KCNA5 GJA1 ABCB5
4 sarcolemma GO:0042383 9.5 KCNJ8 KCNJ11 ABCC8
5 intercalated disc GO:0014704 9.33 KCNJ11 KCNA5 GJA1
6 potassium ion-transporting ATPase complex GO:0031004 9.13 KCNJ8 ABCC9 ABCC8
7 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 transport GO:0006811 9.85 TRPM7 KCNJ8 KCNJ11 KCNA5
2 response to lipopolysaccharide GO:0032496 9.7 KCNJ8 GJA1 ABCC8
3 regulation of ion transmembrane transport GO:0034765 9.69 KCNJ8 KCNJ11 KCNA5
4 potassium ion transport GO:0006813 9.65 KCNJ8 KCNJ11 KCNA5 ABCC9 ABCC8
5 regulation of membrane potential GO:0042391 9.63 KCNJ11 KCNA5 ABCB5
6 regulation of insulin secretion GO:0050796 9.62 SLC2A2 KCNJ11 KCNA5 ABCC8
7 potassium ion transmembrane transport GO:0071805 9.55 KCNJ8 KCNJ11 KCNA5 ABCC9 ABCC8
8 negative regulation of insulin secretion GO:0046676 9.54 KCNJ11 ABCC8
9 potassium ion import across plasma membrane GO:1990573 9.54 KCNJ8 KCNJ11 ABCC9
10 negative regulation of wound healing GO:0061045 9.49 GJA1 ABCC8
11 response to ATP GO:0033198 9.48 KCNJ11 ABCC9
12 response to pH GO:0009268 9.43 GJA1 ABCC8
13 atrial cardiac muscle cell action potential GO:0086014 9.4 KCNA5 GJA1
14 inorganic cation transmembrane transport GO:0098662 9.26 KCNJ8 KCNJ11 ABCC9 ABCC8
15 transmembrane transport GO:0055085 9.23 TRPM7 SLC2A2 KCNJ11 KCNA5 GJA1 ABCC9

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.88 TRPM7 KCNJ8 KCNJ11 ABCC9 ABCC8 ABCB5
2 ATPase activity GO:0016887 9.69 ABCC9 ABCC8 ABCB5
3 transmembrane transporter activity GO:0022857 9.67 SLC2A2 GJA1 ABCC9
4 voltage-gated ion channel activity GO:0005244 9.65 KCNJ8 KCNJ11 KCNA5
5 ion channel binding GO:0044325 9.61 KCNJ11 ABCC9 ABCC8
6 potassium channel activity GO:0005267 9.5 KCNA5 ABCC9 ABCC8
7 inward rectifier potassium channel activity GO:0005242 9.46 KCNJ8 KCNJ11
8 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.43 ABCC9 ABCC8 ABCB5
9 efflux transmembrane transporter activity GO:0015562 9.37 GJA1 ABCB5
10 cation-transporting ATPase activity GO:0019829 9.26 KCNJ8 KCNJ11 ABCC9 ABCC8
11 sulfonylurea receptor activity GO:0008281 9.16 ABCC9 ABCC8
12 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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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