Gene Directory

266 genes with known genetic variants in our database.

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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)
SMN1
survival of motor neuron 1, telomeric
74 variants Chr 5 "Tudor domain containing|SMN c...
PROP1
PROP paired-like homeobox 1
71 variants Chr 5 PRD class homeoboxes and pseud...
FAT2
FAT atypical cadherin 2
70 variants Chr 5 "Cadherin related|MicroRNA pro...
PIK3R1
phosphoinositide-3-kinase regulatory subunit 1
67 variants Chr 5 SH2 domain containing
SLC34A1
solute carrier family 34 member 1
67 variants Chr 5 Solute carrier family 34
IL7R
interleukin 7 receptor
66 variants Chr 5 "CD molecules|Fibronectin type...
NSUN2
NOP2/Sun RNA methyltransferase 2
66 variants Chr 5 "NOP2/Sun RNA methyltransferas...
GABRB2
gamma-aminobutyric acid type A receptor subunit beta2
63 variants Chr 5 Gamma-aminobutyric acid type A...
MOCS2
molybdenum cofactor synthesis 2
63 variants Chr 5
PDGFRB
platelet derived growth factor receptor beta
61 variants Chr 5 "Receptor tyrosine kinases|CD ...
SH3PXD2B
SH3 and PX domains 2B
59 variants Chr 5
C6
complement C6
55 variants Chr 5 "Sushi domain containing|Compl...
C7
complement C7
53 variants Chr 5 "Sushi domain containing|Compl...
DNAJC21
DnaJ heat shock protein family (Hsp40) member C21
53 variants Chr 5 "Zinc fingers C2H2-type|Zinc f...
SIL1
SIL1 nucleotide exchange factor
53 variants Chr 5 Armadillo like helical domain ...
PCDH12
protocadherin 12
52 variants Chr 5 Non-clustered protocadherins
ZSWIM6
zinc finger SWIM-type containing 6
50 variants Chr 5 Zinc fingers SWIM-type
CEP120
centrosomal protein 120
49 variants Chr 5
CYFIP2
cytoplasmic FMR1 interacting protein 2
48 variants Chr 5 SCAR/WAVE complex
FLT4
fms related receptor tyrosine kinase 4
48 variants Chr 5 "Receptor tyrosine kinases|I-s...
MARVELD2
MARVEL domain containing 2
48 variants Chr 5 MARVEL domain containing
SLC6A19
solute carrier family 6 member 19
47 variants Chr 5 Solute carrier family 6
NDUFS4
NADH:ubiquinone oxidoreductase subunit S4
46 variants Chr 5 NADH:ubiquinone oxidoreductase...
POU4F3
POU class 4 homeobox 3
44 variants Chr 5 POU class homeoboxes and pseud...
HARS1
histidyl-tRNA synthetase 1
43 variants Chr 5 Aminoacyl tRNA synthetases, Cl...
MYOT
myotilin
43 variants Chr 5 I-set domain containing
NDUFS6
NADH:ubiquinone oxidoreductase subunit S6
43 variants Chr 5 NADH:ubiquinone oxidoreductase...
SLC12A2
solute carrier family 12 member 2
43 variants Chr 5 "Protein phosphatase 1 regulat...
C9
complement C9
42 variants Chr 5 "Complement system activation ...
DOCK2
dedicator of cytokinesis 2
42 variants Chr 5 "Armadillo like helical domain...
NIPAL4
NIPA like domain containing 4
42 variants Chr 5 Solute carrier family 57, NIPA...
SLC25A46
solute carrier family 25 member 46
40 variants Chr 5 Solute carrier family 25
ITK
IL2 inducible T cell kinase
37 variants Chr 5 "Pleckstrin homology domain co...
KDM3B
lysine demethylase 3B
37 variants Chr 5 Lysine demethylases
LARS1
leucyl-tRNA synthetase 1
37 variants Chr 5 Aminoacyl tRNA synthetases, Cl...
PCSK1
proprotein convertase subtilisin/kexin type 1
37 variants Chr 5 Proprotein convertase subtilis...
PDE4D
phosphodiesterase 4D
37 variants Chr 5 "Phosphodiesterases|MicroRNA p...
PPP2CA
protein phosphatase 2 catalytic subunit alpha
37 variants Chr 5 "Protein phosphatase catalytic...
RETREG1
reticulophagy regulator 1
37 variants Chr 5
CWC27
CWC27 spliceosome associated cyclophilin
35 variants Chr 5 "Cyclophilin peptidylprolyl is...
MAP1B
microtubule associated protein 1B
35 variants Chr 5 Protein phosphatase 1 regulato...
RARS1
arginyl-tRNA synthetase 1
34 variants Chr 5 Aminoacyl tRNA synthetases, Cl...
CAMK2A
calcium/calmodulin dependent protein kinase II alpha
32 variants Chr 5 CAMK2 family
HARS2
histidyl-tRNA synthetase 2, mitochondrial
32 variants Chr 5 Aminoacyl tRNA synthetases, Cl...
STING1
stimulator of interferon response cGAMP interactor 1
32 variants Chr 5
CCNO
cyclin O
31 variants Chr 5 Cyclins
F12
coagulation factor XII
31 variants Chr 5 Kringle domain containing
KLHL3
kelch like family member 3
31 variants Chr 5 "Kelch like|BTB domain contain...
MAP3K1
mitogen-activated protein kinase kinase kinase 1
31 variants Chr 5 "Ring finger proteins|Zinc fin...
SPINK1
serine peptidase inhibitor Kazal type 1
31 variants Chr 5 Serine peptidase inhibitors, K...
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