Gene Directory

370 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)
IQCB1
IQ motif containing B1
101 variants Chr 3 Armadillo like helical domain ...
IFT122
intraflagellar transport 122
98 variants Chr 3 "WD repeat domain containing|I...
RAF1
Raf-1 proto-oncogene, serine/threonine kinase
97 variants Chr 3 "Mitogen-activated protein kin...
ADCY5
adenylate cyclase 5
95 variants Chr 3 Adenylate cyclases
ANO10
anoctamin 10
95 variants Chr 3 Anoctamins
TREX1
three prime repair exonuclease 1
95 variants Chr 3 "Exonucleases|SET complex"
NBEAL2
neurobeachin like 2
94 variants Chr 3 "WD repeat domain containing|B...
MME
membrane metalloendopeptidase
92 variants Chr 3 "CD molecules|M13 metallopepti...
QARS1
glutaminyl-tRNA synthetase 1
89 variants Chr 3 "Aminoacyl tRNA synthetases, C...
CLRN1
clarin 1
86 variants Chr 3 Clarins
SOX2
SRY-box transcription factor 2
86 variants Chr 3 SRY-box transcription factors
BRPF1
bromodomain and PHD finger containing 1
83 variants Chr 3 "PHD finger proteins|PWWP doma...
CACNA2D2
calcium voltage-gated channel auxiliary subunit alpha2delta 2
82 variants Chr 3 Calcium voltage-gated channel ...
IFT80
intraflagellar transport 80
80 variants Chr 3 "WD repeat domain containing|I...
SCN11A
sodium voltage-gated channel alpha subunit 11
80 variants Chr 3 Sodium voltage-gated channel a...
TRNT1
tRNA nucleotidyl transferase 1
77 variants Chr 3
CRTAP
cartilage associated protein
76 variants Chr 3 Prolyl 3-hydroxylase family
THRB
thyroid hormone receptor beta
75 variants Chr 3 Thyroid hormone receptors
ZBTB20
zinc finger and BTB domain containing 20
73 variants Chr 3 "Zinc fingers C2H2-type|BTB do...
BCHE
butyrylcholinesterase
72 variants Chr 3 Cholinesterase family
DAG1
dystroglycan 1
72 variants Chr 3
SLC25A20
solute carrier family 25 member 20
72 variants Chr 3 Solute carrier family 25
CACNA1D
calcium voltage-gated channel subunit alpha1 D
69 variants Chr 3 Calcium voltage-gated channel ...
PTPN23
protein tyrosine phosphatase non-receptor type 23
69 variants Chr 3 Protein tyrosine phosphatases ...
LARS2
leucyl-tRNA synthetase 2, mitochondrial
68 variants Chr 3 Aminoacyl tRNA synthetases, Cl...
GMPPB
GDP-mannose pyrophosphorylase B
65 variants Chr 3
SLC25A38
solute carrier family 25 member 38
64 variants Chr 3 Solute carrier family 25
MBD4
methyl-CpG binding domain 4, DNA glycosylase
63 variants Chr 3 "DNA glycosylases|Methyl-CpG b...
CLCN2
chloride voltage-gated channel 2
62 variants Chr 3 CLC chloride channel and trans...
PDCD10
programmed cell death 10
61 variants Chr 3 "STRIPAK complex|CCM adhesion ...
SLC2A2
solute carrier family 2 member 2
60 variants Chr 3 Solute carrier family 2
SLCO2A1
solute carrier organic anion transporter family member 2A1
56 variants Chr 3 Solute carrier organic anion t...
QRICH1
glutamine rich 1
55 variants Chr 3 Caspase recruitment domain con...
STAG1
STAG1 cohesin complex component
55 variants Chr 3 "Cohesin complex|Armadillo lik...
CAV3
caveolin 3
53 variants Chr 3 Caveolins
POU1F1
POU class 1 homeobox 1
53 variants Chr 3 POU class homeoboxes and pseud...
PTH1R
parathyroid hormone 1 receptor
52 variants Chr 3 Parathyroid hormone receptors
FYCO1
FYVE and coiled-coil domain autophagy adaptor 1
50 variants Chr 3 "Zinc fingers FYVE-type|GOLD d...
P3H2
prolyl 3-hydroxylase 2
49 variants Chr 3 Prolyl 3-hydroxylase family
HYAL1
hyaluronidase 1
48 variants Chr 3 Hyaluronidases
PPARG
peroxisome proliferator activated receptor gamma
48 variants Chr 3 Peroxisome proliferator activa...
ARL13B
ARF like GTPase 13B
47 variants Chr 3 ARF GTPase family
ROBO1
roundabout guidance receptor 1
47 variants Chr 3 "Fibronectin type III domain c...
ARL6
ARF like GTPase 6
46 variants Chr 3 ARF GTPase family
CPOX
coproporphyrinogen oxidase
46 variants Chr 3
KLHL40
kelch like family member 40
46 variants Chr 3 "Kelch like|BTB domain contain...
PLOD2
procollagen-lysine,2-oxoglutarate 5-dioxygenase 2
46 variants Chr 3 Procollagen-lysine,2-oxoglutar...
CLDN16
claudin 16
45 variants Chr 3 Claudins
ALG3
ALG3 alpha-1,3- mannosyltransferase
44 variants Chr 3 Dolichyl D-mannosyl phosphate ...
LMOD3
leiomodin 3
44 variants Chr 3 Leiomodins
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