Gene Directory

198 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)
DICER1
dicer 1, ribonuclease III
929 variants Chr 14 "Endoribonucleases|MicroRNA pr...
MYH7
myosin heavy chain 7
761 variants Chr 14 "Myosin heavy chains, class II...
DYNC1H1
dynein cytoplasmic 1 heavy chain 1
531 variants Chr 14 Dynein 1 complex subunits
ZFYVE26
zinc finger FYVE-type containing 26
463 variants Chr 14 Zinc fingers FYVE-type
SPTB
spectrin beta, erythrocytic
378 variants Chr 14 "Pleckstrin homology domain co...
GALC
galactosylceramidase
368 variants Chr 14 Glycoside hydrolase family
SYNE2
spectrin repeat containing nuclear envelope protein 2
324 variants Chr 14 "Spectrin repeat containing nu...
TGM1
transglutaminase 1
304 variants Chr 14 Transglutaminases
FANCM
FA complementation group M
275 variants Chr 14 "DEAH-box helicases|FA complem...
CHD8
chromodomain helicase DNA binding protein 8
270 variants Chr 14 "SNF2 related family|Small nuc...
FOXG1
forkhead box G1
235 variants Chr 14 Forkhead boxes
INF2
inverted formin 2
215 variants Chr 14 "Armadillo like helical domain...
POMT2
protein O-mannosyltransferase 2
203 variants Chr 14 Dolichyl D-mannosyl phosphate ...
RPGRIP1
RPGR interacting protein 1
189 variants Chr 14 C2 domain containing
KIAA0586
KIAA0586
160 variants Chr 14
LTBP2
latent transforming growth factor beta binding protein 2
155 variants Chr 14 Latent transforming growth fac...
PSEN1
presenilin 1
154 variants Chr 14 "Presenilin family|Gamma-secre...
SLC7A7
solute carrier family 7 member 7
143 variants Chr 14 Solute carrier family 7
MYH6
myosin heavy chain 6
137 variants Chr 14 "Myosin heavy chains, class II...
MLH3
mutL homolog 3
135 variants Chr 14 MutL homologs
RDH12
retinol dehydrogenase 12
129 variants Chr 14 Short chain dehydrogenase/redu...
TSHR
thyroid stimulating hormone receptor
129 variants Chr 14 Glycoprotein hormone receptors
CCDC88C
coiled-coil and HOOK domain protein 88C
126 variants Chr 14 HOOK related protein family
TRIP11
thyroid hormone receptor interactor 11
125 variants Chr 14 Golgins
GCH1
GTP cyclohydrolase 1
117 variants Chr 14 MicroRNA protein coding host g...
SERPINA1
serpin family A member 1
112 variants Chr 14 Serpin peptidase inhibitors
ATL1
atlastin GTPase 1
111 variants Chr 14 Atlastins
SOS2
SOS Ras/Rho guanine nucleotide exchange factor 2
111 variants Chr 14 "Pleckstrin homology domain co...
TECPR2
tectonin beta-propeller repeat containing 2
111 variants Chr 14
NKX2-1
NK2 homeobox 1
110 variants Chr 14 NKL subclass homeoboxes and ps...
TTLL5
tubulin tyrosine ligase like 5
98 variants Chr 14 Tubulin tyrosine ligase family
TGFB3
transforming growth factor beta 3
93 variants Chr 14 Transforming growth factor bet...
TTC8
tetratricopeptide repeat domain 8
87 variants Chr 14 "Tetratricopeptide repeat doma...
PYGL
glycogen phosphorylase L
85 variants Chr 14 Glycogen phosphorylases
VRK1
VRK serine/threonine kinase 1
84 variants Chr 14
BCL11B
BCL11 transcription factor B
78 variants Chr 14 "Zinc fingers C2H2-type|BAF co...
SPATA7
spermatogenesis associated 7
78 variants Chr 14
IRF2BPL
interferon regulatory factor 2 binding protein like
77 variants Chr 14
DNAAF2
dynein axonemal assembly factor 2
74 variants Chr 14 Axonemal dynein assembly facto...
AMN
amnion associated transmembrane protein
67 variants Chr 14
OTX2
orthodenticle homeobox 2
62 variants Chr 14 PRD class homeoboxes and pseud...
MAX
MYC associated transcriptional regulator X
60 variants Chr 14 Basic helix-loop-helix protein...
PACS2
phosphofurin acidic cluster sorting protein 2
60 variants Chr 14
NPC2
NPC intracellular cholesterol transporter 2
59 variants Chr 14 "MicroRNA protein coding host ...
VSX2
visual system homeobox 2
58 variants Chr 14 PRD class homeoboxes and pseud...
L2HGDH
L-2-hydroxyglutarate dehydrogenase
55 variants Chr 14 "MicroRNA protein coding host ...
PAX9
paired box 9
55 variants Chr 14 Paired boxes
AHNAK2
AHNAK nucleoprotein 2
53 variants Chr 14 PDZ domain containing
VIPAS39
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
49 variants Chr 14
GPHN
gephyrin
46 variants Chr 14
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