Gene Directory

221 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)
MAP2K1
mitogen-activated protein kinase kinase 1
58 variants Chr 15 Mitogen-activated protein kina...
RAB27A
RAB27A, member RAS oncogene family
56 variants Chr 15 RAB, member RAS oncogene GTPas...
KBTBD13
kelch repeat and BTB domain containing 13
55 variants Chr 15 BTB domain containing
HERC1
HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
50 variants Chr 15 "WD repeat domain containing|H...
KNL1
kinetochore scaffold 1
48 variants Chr 15 "Protein phosphatase 1 regulat...
RYR3
ryanodine receptor 3
48 variants Chr 15 "Ryanodine receptors|EF-hand d...
AP4E1
adaptor related protein complex 4 subunit epsilon 1
47 variants Chr 15 "Clathrin/coatomer adaptor, ad...
PSTPIP1
proline-serine-threonine phosphatase interacting protein 1
47 variants Chr 15 F-BAR domain containing
EPB42
erythrocyte membrane protein band 4.2
46 variants Chr 15 Transglutaminases
HERC2
HECT and RLD domain containing E3 ubiquitin protein ligase 2
46 variants Chr 15 "Zinc fingers ZZ-type|HECT and...
STRA6
signaling receptor and transporter of retinol STRA6
45 variants Chr 15 Solute carrier family 69
CYP11A1
cytochrome P450 family 11 subfamily A member 1
44 variants Chr 15 Cytochrome P450 family 11
MTFMT
mitochondrial methionyl-tRNA formyltransferase
44 variants Chr 15
MYO1E
myosin IE
43 variants Chr 15 "Myosin heavy chains, class I|...
WDR73
WD repeat domain 73
43 variants Chr 15 WD repeat domain containing
SLC24A5
solute carrier family 24 member 5
42 variants Chr 15 Solute carrier family 24
TTBK2
tau tubulin kinase 2
42 variants Chr 15
TUBGCP4
tubulin gamma complex component 4
42 variants Chr 15 Tubulin gamma complex componen...
CHST14
carbohydrate sulfotransferase 14
39 variants Chr 15 Sulfotransferases, membrane bo...
DLL4
delta like canonical Notch ligand 4
39 variants Chr 15 Canonical Notch ligands
FAN1
FANCD2 and FANCI associated nuclease 1
39 variants Chr 15 Zinc fingers UBZ4 CCHC-type
GATM
glycine amidinotransferase
37 variants Chr 15
DNAAF4
dynein axonemal assembly factor 4
36 variants Chr 15 "Tetratricopeptide repeat doma...
LINS1
lines homolog 1
35 variants Chr 15
MEIS2
Meis homeobox 2
35 variants Chr 15 "TALE class homeoboxes and pse...
PIGB
phosphatidylinositol glycan anchor biosynthesis class B
35 variants Chr 15 "Dolichyl D-mannosyl phosphate...
LRRK1
leucine rich repeat kinase 1
31 variants Chr 15 "ROCO family|Leucine rich repe...
RORA
RAR related orphan receptor A
31 variants Chr 15 RAR related orphan receptors
TRIP4
thyroid hormone receptor interactor 4
31 variants Chr 15 "Zinc fingers|Activating signa...
SCAPER
S-phase cyclin A associated protein in the ER
29 variants Chr 15 "Zinc fingers C2H2-type|Zinc f...
WDR72
WD repeat domain 72
29 variants Chr 15 WD repeat domain containing
NR2F2
nuclear receptor subfamily 2 group F member 2
27 variants Chr 15 "MicroRNA protein coding host ...
GLDN
gliomedin
26 variants Chr 15 Olfactomedin domain containing
RASGRP1
RAS guanyl releasing protein 1
26 variants Chr 15 "EF-hand domain containing|RAS...
SPG21
SPG21 abhydrolase domain containing, maspardin
26 variants Chr 15 Abhydrolase domain containing
TGM5
transglutaminase 5
25 variants Chr 15 Transglutaminases
CIB2
calcium and integrin binding family member 2
23 variants Chr 15 EF-hand domain containing
AAGAB
alpha and gamma adaptin binding protein
22 variants Chr 15
BLOC1S6
biogenesis of lysosomal organelles complex 1 subunit 6
22 variants Chr 15 Biogenesis of lysosomal organe...
MAPKBP1
mitogen-activated protein kinase binding protein 1
22 variants Chr 15 WD repeat domain containing
AFG2B
AAA ATPase AFG2B
21 variants Chr 15 AAA ATPases
ALDH1A3
aldehyde dehydrogenase 1 family member A3
20 variants Chr 15 Aldehyde dehydrogenases
IDH3A
isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha
20 variants Chr 15 Isocitrate dehydrogenases
NIPA1
NIPA magnesium transporter 1
20 variants Chr 15 Solute carrier family 57, NIPA...
UNC45A
unc-45 myosin chaperone A
20 variants Chr 15 Armadillo like helical domain ...
LIPC
lipase C, hepatic type
19 variants Chr 15 Lipases
PPIB
peptidylprolyl isomerase B
19 variants Chr 15 Cyclophilin peptidylprolyl iso...
GNB5
G protein subunit beta 5
18 variants Chr 15 "WD repeat domain containing|G...
MYO5A
myosin VA
16 variants Chr 15 Myosin heavy chains, class V
RAD51
RAD51 recombinase
16 variants Chr 15 "FA complementation groups|RAD...
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