Gene Directory

6,394 genes with known genetic variants in our database.

All Chr 1(621) Chr 2(446) Chr 3(370) Chr 4(242) Chr 5(266) Chr 6(311) Chr 7(286) Chr 8(216) Chr 9(250) Chr 10(250) Chr 11(386) Chr 12(324) Chr 13(111) Chr 14(198) Chr 15(221) Chr 16(276) Chr 17(359) Chr 18(87) Chr 19(346) Chr 20(177) Chr 21(71) Chr 22(147) Chr X(397) Chr Y(4)
RHOBTB2
Rho related BTB domain containing 2
64 variants Chr 8 "Rho family GTPases|BTB domain...
SHOX
SHOX homeobox
64 variants Chr X "PRD class homeoboxes and pseu...
SLC25A38
solute carrier family 25 member 38
64 variants Chr 3 Solute carrier family 25
SLC38A8
solute carrier family 38 member 8
64 variants Chr 16 Solute carrier family 38
VDR
vitamin D receptor
64 variants Chr 12 "Protein phosphatase 1 regulat...
VPS33B
VPS33B late endosome and lysosome associated
64 variants Chr 15
BMP1
bone morphogenetic protein 1
63 variants Chr 8 "Bone morphogenetic proteins|A...
EPM2A
EPM2A glucan phosphatase, laforin
63 variants Chr 6 Atypical dual specificity phos...
GABRB2
gamma-aminobutyric acid type A receptor subunit beta2
63 variants Chr 5 Gamma-aminobutyric acid type A...
JPH2
junctophilin 2
63 variants Chr 20 Junctophilins
MBD4
methyl-CpG binding domain 4, DNA glycosylase
63 variants Chr 3 "DNA glycosylases|Methyl-CpG b...
MOCS2
molybdenum cofactor synthesis 2
63 variants Chr 5
RLBP1
retinaldehyde binding protein 1
63 variants Chr 15 CRAL-TRIO lipid binding domain...
SOX5
SRY-box transcription factor 5
63 variants Chr 12 SRY-box transcription factors
ST3GAL5
ST3 beta-galactoside alpha-2,3-sialyltransferase 5
63 variants Chr 2 Sialyltransferases
XIAP
X-linked inhibitor of apoptosis
63 variants Chr X "Ring finger proteins|Baculovi...
ZMYM2
zinc finger MYM-type containing 2
63 variants Chr 13 Zinc fingers MYM-type
ALG13
ALG13 UDP-N-acetylglucosaminyltransferase subunit
62 variants Chr X "UDP-N-acetylglucosaminyltrans...
BRWD3
bromodomain and WD repeat domain containing 3
62 variants Chr X Bromodomain and WD repeat doma...
CD36
CD36 molecule (CD36 blood group)
62 variants Chr 7 "Blood group antigens|CD molec...
CLCN2
chloride voltage-gated channel 2
62 variants Chr 3 CLC chloride channel and trans...
DHTKD1
dehydrogenase E1 and transketolase domain containing 1
62 variants Chr 10 "Oxoglutarate dehydrogenase fa...
FECH
ferrochelatase
62 variants Chr 18
GSN
gelsolin
62 variants Chr 9 Gelsolin/villins
HBA1
hemoglobin subunit alpha 1
62 variants Chr 16 "Hemoglobin subunits|Proteins ...
LBR
lamin B receptor
62 variants Chr 1 Tudor domain containing
MAPT
microtubule associated protein tau
62 variants Chr 17 Protein phosphatase 1 regulato...
MTMR2
myotubularin related protein 2
62 variants Chr 11 "Myotubularins|Phosphoinositid...
NEFH
neurofilament heavy chain
62 variants Chr 22 Intermediate filaments Type IV
OTX2
orthodenticle homeobox 2
62 variants Chr 14 PRD class homeoboxes and pseud...
SPAG1
sperm associated antigen 1
62 variants Chr 8 "Tetratricopeptide repeat doma...
STX1B
syntaxin 1B
62 variants Chr 16 Syntaxins
TBR1
T-box brain transcription factor 1
62 variants Chr 2 T-box transcription factors
XRCC2
X-ray repair cross complementing 2
62 variants Chr 7 "FA complementation groups|RAD...
ACTA2
actin alpha 2, smooth muscle
61 variants Chr 10 Actins
CHIT1
chitinase 1
61 variants Chr 1 Chitinases
CYP24A1
cytochrome P450 family 24 subfamily A member 1
61 variants Chr 20 Cytochrome P450 family 24
CYP2U1
cytochrome P450 family 2 subfamily U member 1
61 variants Chr 4 Cytochrome P450 family 2
DNAAF3
dynein axonemal assembly factor 3
61 variants Chr 19 Axonemal dynein assembly facto...
DNAAF5
dynein axonemal assembly factor 5
61 variants Chr 7 "TOG domain containing|Axonema...
DPAGT1
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
61 variants Chr 11
FLVCR1
FLVCR choline and heme transporter 1
61 variants Chr 1 Solute carrier family 49
KRT14
keratin 14
61 variants Chr 17 Keratins, type I
NDRG1
N-myc downstream regulated 1
61 variants Chr 8 NDRG family
PDCD10
programmed cell death 10
61 variants Chr 3 "STRIPAK complex|CCM adhesion ...
PDGFRB
platelet derived growth factor receptor beta
61 variants Chr 5 "Receptor tyrosine kinases|CD ...
RAD21
RAD21 cohesin complex component
61 variants Chr 8 "Cohesin complex|Kleisins|Micr...
SERAC1
serine active site containing 1
61 variants Chr 6 Armadillo like helical domain ...
SLC24A1
solute carrier family 24 member 1
61 variants Chr 15 Solute carrier family 24
TMEM216
transmembrane protein 216
61 variants Chr 11
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