GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Explore information by Inheritance Mode 

Autosomal dominant, Autosomal recessive, X-linked recessive, Mitochondrial inheritance

Monogenic disorders list based on single and multiple genes


Disorder Name (Total=1) Aliases Category Gene Indian Reports Link
Left ventricular noncompaction cardiomyopathy • LVNC
• Left ventricular noncompaction
• left ventricular hypertrabeculation
• left ventricular non-compaction cardiomyopathy
• left ventricular non-compaction syndrome
• left ventricular noncompaction (disease)
• Lv non-compaction syndrome
• LVNC
• spongy myocardium
Cardiovascular disorders MYH7 myosin heavy chain 7
TTN titin
RYR2 ryanodine receptor 2
DSP desmoplakin
MYBPC3 myosin binding protein C3
SCN5A sodium voltage-gated channel alpha subunit 5
LAMA4 laminin subunit alpha 4
DMD dystrophin
LDB3 LIM domain binding 3
ACTC1 actin alpha cardiac muscle 1
DTNA dystrobrevin alpha
TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase
TPM1 tropomyosin 1
DSG2 desmoglein 2
TBX5 T-box transcription factor 5
PKP2 plakophilin 2
HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4
PRDM16 PR/SET domain 16
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
Reports
Updated as of Feb 04, 2025
PubMed