GenTIGSA Gene Database on Rare Genetic Disorders

Lists of Rare Genetic Disorders  

Dilated Cardiomyopathy 1A(LMNA familial isolated dilated cardiomyopathy)      Explore Disorder's Alias
An Autosomal dominant mode(s) within the Cardiovascular disorders category
Reported Pathogenic variants
Candidate Gene Information
S.No. Name/GeneID Description Cytogentic Band Gene Location on genomic DNA Gene Length Exons Details Gene Cross-References
1 LMNA/4000 lamin A/C 1q22 Chr1, NC_000001.11
(156082573..156140081)
57509 nt 17 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

2 ACTN2/88 actinin alpha 2 1q43 Chr1, NC_000001.11
(236686499..236764631)
78133 nt 23 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

3 HAND2/9464 heart and neural crest derivatives expressed 2 4q34.1 Chr4, NC_000004.12
(173526091..173530229, complement)
4139 nt 2 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

4 TTN/7273 titin 2q31.2 Chr2, NC_000002.12
(178525989..178807423, complement)
281435 nt 364 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

5 DMD/1756 dystrophin Xp21.1 ChrX, NC_000023.11
(31119222..33339388, complement)
2220167 nt 89 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

6 SEMA3E/9723 semaphorin 3E 7q21.11 Chr7, NC_000007.14
(83363238..83649139, complement)
285902 nt 18 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

7 SYNE1/23345 spectrin repeat containing nuclear envelope protein 1 6q25.2 Chr6, NC_000006.12
(152121687..152637362, complement)
515676 nt 153 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

8 NFATC2/4773 nuclear factor of activated T cells 2 20q13.2 Chr20, NC_000020.11
(51386963..51562839, complement)
175877 nt 13 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

9 RAPGEF5/9771 Rap guanine nucleotide exchange factor 5 7p15.3 Chr7, NC_000007.14
(22118236..22357154, complement)
238919 nt 31 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

10 FLNC/2318 filamin C 7q32.1 Chr7, NC_000007.14
(128830406..128859272)
28867 nt 48 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

11 UNC45B/146862 unc-45 myosin chaperone B 17q12 Chr17, NC_000017.11
(35147817..35189345)
41529 nt 20 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information             Highlighted rows indicate variants are reported from India
Disorder Cross-References:      Orphanet          OMIM          GARD          GTR          MedGen          MalaCards          EMBL-EBI OLS    Monarch Initiative          NORD     

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