Gene Directory
276 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)
TSC2
TSC complex subunit 2
PALB2
partner and localizer of BRCA2
PKD1
polycystin 1, transient receptor potential channel interacting
FANCA
FA complementation group A
CDH1
cadherin 1
ANKRD11
ankyrin repeat domain 11
CREBBP
CREB binding lysine acetyltransferase
ZNF469
zinc finger protein 469
CACNA1H
calcium voltage-gated channel subunit alpha1 H
GRIN2A
glutamate ionotropic receptor NMDA type subunit 2A
SLC12A3
solute carrier family 12 member 3
PIEZO1
piezo type mechanosensitive ion channel component 1 (Er blood group)
GALNS
galactosamine (N-acetyl)-6-sulfatase
IFT140
intraflagellar transport 140
RPGRIP1L
RPGRIP1 like
ABCC6
ATP binding cassette subfamily C member 6
MYH11
myosin heavy chain 11
MEFV
MEFV innate immunity regulator, pyrin
BBS2
Bardet-Biedl syndrome 2
NTHL1
nth like DNA glycosylase 1
CNGB1
cyclic nucleotide gated channel subunit beta 1
PMM2
phosphomannomutase 2
SLX4
SLX4 structure-specific endonuclease subunit
ABCA3
ATP binding cassette subfamily A member 3
SPG7
SPG7 matrix AAA peptidase subunit, paraplegin
SRCAP
Snf2 related CREBBP activator protein
CLN3
CLN3 lysosomal/endosomal transmembrane protein, battenin
ACSF3
acyl-CoA synthetase family member 3
PRRT2
proline rich transmembrane protein 2
TBC1D24
TBC1 domain family member 24
ADGRG1
adhesion G protein-coupled receptor G1
NOD2
nucleotide binding oligomerization domain containing 2
CLCN7
Cl-/H+ antiporter 7
AARS1
alanyl-tRNA synthetase 1
CIITA
class II major histocompatibility complex transactivator
GNPTG
N-acetylglucosamine-1-phosphate transferase subunit gamma
NPRL3
NPR3 like, GATOR1 complex subunit
SALL1
spalt like transcription factor 1
ALG1
ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase
PHKB
phosphorylase kinase regulatory subunit beta
UMOD
uromodulin
WWOX
WW domain containing oxidoreductase
GNAO1
G protein subunit alpha o1
OTOA
otoancorin
DNAAF1
dynein axonemal assembly factor 1
ERCC4
ERCC excision repair 4, endonuclease catalytic subunit
TK2
thymidine kinase 2
HBA2
hemoglobin subunit alpha 2
CDH3
cadherin 3
FA2H
fatty acid 2-hydroxylase
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