Gene Directory

87 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)
NPC1
NPC intracellular cholesterol transporter 1
654 variants Chr 18 Solute carrier family 65
LOXHD1
lipoxygenase homology PLAT domains 1
458 variants Chr 18
SMAD4
SMAD family member 4
390 variants Chr 18 SMAD family
DSG2
desmoglein 2
303 variants Chr 18 Desmosomal cadherins
LAMA3
laminin subunit alpha 3
302 variants Chr 18 Laminin subunits
DSC2
desmocollin 2
270 variants Chr 18 Desmosomal cadherins
TCF4
transcription factor 4
244 variants Chr 18 Basic helix-loop-helix protein...
SETBP1
SET binding protein 1
210 variants Chr 18
EPG5
ectopic P-granules 5 autophagy tethering factor
209 variants Chr 18
ASXL3
ASXL transcriptional regulator 3
208 variants Chr 18
SMCHD1
structural maintenance of chromosomes flexible hinge domain containing 1
193 variants Chr 18
ATP8B1
ATPase phospholipid transporting 8B1
183 variants Chr 18 ATPase phospholipid transporti...
PIGN
phosphatidylinositol glycan anchor biosynthesis class N
175 variants Chr 18 Phosphatidylinositol glycan an...
PIEZO2
piezo type mechanosensitive ion channel component 2
158 variants Chr 18 "Armadillo like helical domain...
LAMA1
laminin subunit alpha 1
147 variants Chr 18 Laminin subunits
MYO5B
myosin VB
134 variants Chr 18 "Myosin heavy chains, class V|...
TTR
transthyretin
122 variants Chr 18 Gla domain containing
RTTN
rotatin
101 variants Chr 18 Armadillo like helical domain ...
LPIN2
lipin 2
87 variants Chr 18 Lipins
AFG3L2
AFG3 like matrix AAA peptidase subunit 2
83 variants Chr 18 AAA ATPases
GREB1L
GREB1 like retinoic acid receptor coactivator
70 variants Chr 18
MC4R
melanocortin 4 receptor
65 variants Chr 18 Melanocortin receptors
FECH
ferrochelatase
62 variants Chr 18
DYM
dymeclin
60 variants Chr 18 "Armadillo like helical domain...
TNFRSF11A
TNF receptor superfamily member 11a
56 variants Chr 18 "CD molecules|Tumor necrosis f...
NEDD4L
NEDD4 like E3 ubiquitin protein ligase
52 variants Chr 18 "C2 domain containing|Nedd4 fa...
DCC
DCC netrin 1 receptor
47 variants Chr 18 "Fibronectin type III domain c...
DSG1
desmoglein 1
46 variants Chr 18 Desmosomal cadherins
GATA6
GATA binding protein 6
45 variants Chr 18 GATA zinc finger domain contai...
CDH2
cadherin 2
44 variants Chr 18 "CD molecules|Type I classical...
MYOM1
myomesin 1
44 variants Chr 18 "I-set domain containing|Myosi...
DSG4
desmoglein 4
42 variants Chr 18 Desmosomal cadherins
CCBE1
collagen and calcium binding EGF domains 1
38 variants Chr 18
MC2R
melanocortin 2 receptor
33 variants Chr 18 Melanocortin receptors
MOCOS
molybdenum cofactor sulfurase
30 variants Chr 18
SMAD2
SMAD family member 2
30 variants Chr 18 SMAD family
MALT1
MALT1 paracaspase
26 variants Chr 18 "Immunoglobulin like domain co...
DTNA
dystrobrevin alpha
25 variants Chr 18 Zinc fingers ZZ-type
RBBP8
RB binding protein 8, endonuclease
24 variants Chr 18 "BRCA1 C complex|MicroRNA prot...
MIB1
MIB E3 ubiquitin protein ligase 1
22 variants Chr 18 "Ring finger proteins|Zinc fin...
GNAL
G protein subunit alpha L
21 variants Chr 18 G protein subunits alpha, grou...
NDUFV2
NADH:ubiquinone oxidoreductase core subunit V2
20 variants Chr 18 NADH:ubiquinone oxidoreductase...
ELP2
elongator acetyltransferase complex subunit 2
18 variants Chr 18 "WD repeat domain containing|E...
RAX
retina and anterior neural fold homeobox
17 variants Chr 18 PRD class homeoboxes and pseud...
NARS1
asparaginyl-tRNA synthetase 1
16 variants Chr 18 Aminoacyl tRNA synthetases, Cl...
TGIF1
TGFB induced factor homeobox 1
16 variants Chr 18 TALE class homeoboxes and pseu...
ATP5F1A
ATP synthase F1 subunit alpha
15 variants Chr 18 "Mitochondrial complex V: ATP ...
KCTD1
potassium channel tetramerization domain containing 1
15 variants Chr 18 "BTB domain containing|MicroRN...
ZNF407
zinc finger protein 407
15 variants Chr 18 "Zinc fingers C2H2-type|Zinc f...
LMAN1
lectin, mannose binding 1
13 variants Chr 18
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