Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
LOVD v.2.0 Build 35 [
Current LOVD status
]
Register as submitter
|
Log in
Please select a gene database:
ABCC9 (ATP-binding cassette, sub-family C (CFTR/MRP), member 9)
ACTC1 (actin, alpha, cardiac muscle 1)
ACTN2 (actinin, alpha 2)
AKAP9 (A kinase (PRKA) anchor protein (yotiao) 9)
ANK2 (ankyrin 2, neuronal)
APC (adenomatous polyposis coli)
AXIN2 (axin 2)
BARD1 (BRCA1 associated RING domain 1)
BRCA1 (breast cancer 1, early onset)
BRCA2 (breast cancer 2, early onset)
BRIP1 (BRCA1 interacting protein C-terminal helicase 1)
CACNA1C (calcium channel, voltage-dependent, L type, alpha 1C subunit)
CAV3 (caveolin 3)
CDC73 (cell division cycle 73)
CDH1 (cadherin 1, type 1, E-cadherin (epithelial))
CHEK2 (checkpoint kinase 2)
CSRP3 (cysteine and glycine-rich protein 3 (cardiac LIM protein))
CTF1 (cardiotrophin 1)
DES (desmin)
DSC2 (desmocollin 2)
DSG2 (desmoglein 2)
DSP (desmoplakin)
ELAC2 (elaC homolog 2 (E. coli))
EMD (emerin)
EPCAM (epithelial cell adhesion molecule)
FH (fumarate hydratase)
GJB6 (gap junction protein, beta 6, 30kDa)
GLA (galactosidase, alpha)
HSD17B3 (hydroxysteroid (17-beta) dehydrogenase 3)
HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2)
JAG1 (jagged 1)
KCNE1 (potassium voltage-gated channel, Isk-related family, member 1)
KCNE2 (potassium voltage-gated channel, Isk-related family, member 2)
KCNH2 (potassium voltage-gated channel, subfamily H (eag-related), member 2)
KCNJ2 (potassium inwardly-rectifying channel, subfamily J, member 2)
KCNJ5 (potassium inwardly-rectifying channel, subfamily J, member 5)
KCNQ1 (potassium voltage-gated channel, KQT-like subfamily, member 1)
KIT (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog)
KRT1 (keratin 1)
KRT10 (keratin 10)
KRT14 (keratin 14)
KRT5 (keratin 5)
KRT9 (keratin 9)
LAMP2 (lysosomal-associated membrane protein 2)
LDB3 (LIM domain binding 3)
LMBRD1 (LMBR1 domain containing 1)
LMNA (lamin A/C)
MCEE (methylmalonyl CoA epimerase)
MET (met proto-oncogene (hepatocyte growth factor receptor))
MLH1 (mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli))
MLH3 (mutL homolog 3 (E. coli))
MMAA (methylmalonic aciduria (cobalamin deficiency) cblA type)
MMAB (methylmalonic aciduria (cobalamin deficiency) cblB type)
MMACHC (methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria)
MMADHC (methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria)
MRE11A (MRE11 meiotic recombination 11 homolog A (S. cerevisiae))
MSH2 (mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli))
MSH6 (mutS homolog 6 (E. coli))
MTR (5-methyltetrahydrofolate-homocysteine methyltransferase)
MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase)
MUT (methylmalonyl CoA mutase)
MYBPC3 (myosin binding protein C, cardiac)
MYH7 (myosin, heavy chain 7, cardiac muscle, beta)
MYL2 (myosin, light chain 2, regulatory, cardiac, slow)
MYL3 (myosin, light chain 3, alkali; ventricular, skeletal, slow)
NBN (nibrin)
NMNAT1 (nicotinamide nucleotide adenylyltransferase 1)
NOTCH2 (notch 2)
NTRK1 (neurotrophic tyrosine kinase, receptor, type 1)
PALB2 (partner and localizer of BRCA2)
PDGFRA (platelet-derived growth factor receptor, alpha polypeptide)
PKP2 (plakophilin 2)
PLN (phospholamban)
PMS1 (PMS1 postmeiotic segregation increased 1 (S. cerevisiae))
PMS2 (PMS2 postmeiotic segregation increased 2 (S. cerevisiae))
PRKAG2 (protein kinase, AMP-activated, gamma 2 non-catalytic subunit)
PTCH1 (patched 1)
PTEN (phosphatase and tensin homolog)
RAD50 (RAD50 homolog (S. cerevisiae))
RAD51C (RAD51 homolog C (S. cerevisiae))
RET (ret proto-oncogene)
RNASEL (ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent))
SCN4B (sodium channel, voltage-gated, type IV, beta subunit)
SCN5A (sodium channel, voltage-gated, type V, alpha subunit)
SGCD (sarcoglycan, delta (35kDa dystrophin-associated glycoprotein))
SNTA1 (syntrophin, alpha 1)
SRD5A2 (steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogena...))
STK11 (serine/threonine kinase 11)
TAZ (tafazzin)
TCAP (titin-cap)
TMEM43 (transmembrane protein 43)
TNNI3 (troponin I type 3 (cardiac))
TNNT2 (troponin T type 2 (cardiac))
TPM1 (tropomyosin 1 (alpha))
VCL (vinculin)
VHL (von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase)
Powered by
LOVD v.2.0
Build 35
©2004-2012
Leiden University Medical Center