|
KIF1A |
kinesin family member 1A |
UNC104 |
Orphanet, Reactome, Ensembl, Genatlas, HGNC, OMIM, SwissProt |
|
GRIN1 |
glutamate ionotropic receptor NMDA type subunit 1 |
GluN1 |
Orphanet, Ensembl, Genatlas, HGNC, OMIM, Reactome, SwissProt |
|
DYNC1H1 |
dynein cytoplasmic 1 heavy chain 1 |
CMT2O, DHC1, Dnchc1, HL-3, p22 |
Orphanet, Ensembl, Genatlas, HGNC, OMIM, Reactome, SwissProt |
|
CACNG2 |
calcium voltage-gated channel auxiliary subunit gamma 2 |
MGC138502, MGC138504, Stargazin, stargazin |
Orphanet, Ensembl, Genatlas, HGNC, OMIM, Reactome, SwissProt |
|
EPB41L1 |
erythrocyte membrane protein band 4.1 like 1 |
4.1N, KIAA0338 |
Orphanet, Ensembl, Genatlas, HGNC, OMIM, Reactome, SwissProt |
|
EEF1A2 |
eukaryotic translation elongation factor 1 alpha 2 |
EEF1AL, HS1 |
Orphanet, Ensembl, Genatlas, HGNC, OMIM, Reactome, SwissProt |
|
CAMK2A |
calcium/calmodulin dependent protein kinase II alpha |
CaM kinase II alpha subunit, CaM-kinase II alpha chain, CaMK-II alpha subunit, CaMKIINalpha, CaMKIIa, KIAA0968, calcium/calmodulin-dependent protein kinase II alpha-B subunit, calcium/calmodulin-dependent protein kinase type II alpha chain |
Orphanet, HGNC, Ensembl, SwissProt, OMIM, Genatlas, Reactome |
|
CAMK2B |
calcium/calmodulin dependent protein kinase II beta |
CAM2, CAMK2, CaM kinase II beta subunit, CaM-kinase II beta chain, CaMKIIß, calcium/calmodulin-dependent protein kinase type II beta chain, proline rich calmodulin-dependent protein kinase |
Orphanet, HGNC, Ensembl, SwissProt, OMIM, Genatlas, Reactome |
|
FHL1 |
four and a half LIM domains 1 |
FHL1B, FLH1A, Four-and-a-half LIM domains 1, KYO-T, LIM protein SLIMMER, MGC111107, SLIM1, XMPMA, bA535K18.1 |
Orphanet, Ensembl, Genatlas, HGNC, OMIM, SwissProt, Reactome |
|
DYSF |
dysferlin |
FER1L1, fer-1-like family member 1 |
Orphanet, Ensembl, Genatlas, HGNC, OMIM, Reactome, SwissProt |
|
SGCA |
sarcoglycan alpha |
50kD DAG, A2, DMDA2, LGMD2D, SCARMD1, adhalin, limb girdle muscular dystrophy 2D |
Orphanet, Ensembl, Genatlas, HGNC, OMIM, SwissProt |
|
OTX2 |
orthodenticle homeobox 2 |
|
Orphanet, SwissProt, Ensembl, Genatlas, HGNC, OMIM |
|
PHKA1 |
phosphorylase kinase regulatory subunit alpha 1 |
|
Orphanet, Reactome, SwissProt, Ensembl, Genatlas, HGNC, OMIM |
|
PHKG1 |
phosphorylase kinase catalytic subunit gamma 1 |
|
Orphanet, OMIM, Reactome, SwissProt, Ensembl, Genatlas, HGNC |
|
FBP1 |
fructose-bisphosphatase 1 |
|
Orphanet, Genatlas, HGNC, OMIM, Reactome, SwissProt, Ensembl |
|
LRP5 |
LDL receptor related protein 5 |
BMND1, EVR4, HBM, LR3, OPS, OPTA1, VBCH2 |
Orphanet, Ensembl, Genatlas, HGNC, OMIM, Reactome, SwissProt |
|
CYP19A1 |
cytochrome P450 family 19 subfamily A member 1 |
ARO, ARO1, CPV1, CYAR, P-450AROM, aromatase |
Orphanet, OMIM, Reactome, SwissProt, Ensembl, Genatlas, HGNC |
|
RAB33B |
RAB33B, member RAS oncogene family |
DKFZP434G099 |
Orphanet, Ensembl, Genatlas, HGNC, OMIM, SwissProt, Reactome |
|
ERCC6 |
ERCC excision repair 6, chromatin remodeling factor |
ARMD5, CSB, Cockayne syndrome B protein, RAD26 |
Orphanet, Ensembl, Genatlas, HGNC, OMIM, Reactome, SwissProt |
|
ERCC8 |
ERCC excision repair 8, CSA ubiquitin ligase complex subunit |
CSA |
Orphanet, Ensembl, Genatlas, HGNC, OMIM, Reactome, SwissProt |