Gene Directory

250 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)
SFXN4
sideroflexin 4
19 variants Chr 10 "Mitochondrial respiratory cha...
HELLS
helicase, lymphoid specific
18 variants Chr 10 "SNF2 related family|DexD/H he...
RPS24
ribosomal protein S24
18 variants Chr 10 S ribosomal proteins
WDR11
WD repeat domain 11
18 variants Chr 10 WD repeat domain containing
PCBD1
pterin-4 alpha-carbinolamine dehydratase 1
16 variants Chr 10
PITRM1
pitrilysin metallopeptidase 1
16 variants Chr 10 M16 metallopeptidases
BLNK
B cell linker
15 variants Chr 10 SH2 domain containing
CEP55
centrosomal protein 55
15 variants Chr 10
BICC1
BicC family RNA binding protein 1
14 variants Chr 10 Sterile alpha motif domain con...
HPSE2
heparanase 2 (inactive)
14 variants Chr 10 "Heparanase family|MicroRNA pr...
NEUROG3
neurogenin 3
14 variants Chr 10 Basic helix-loop-helix protein...
NRAP
nebulin related anchoring protein
14 variants Chr 10 "LIM domain containing|Nebulin...
PTF1A
pancreas associated transcription factor 1a
14 variants Chr 10 "Basic helix-loop-helix protei...
HACD1
3-hydroxyacyl-CoA dehydratase 1
13 variants Chr 10 3-hydroxyacyl-CoA dehydratase ...
ITGA8
integrin subunit alpha 8
13 variants Chr 10 Integrin alpha subunits
MINPP1
multiple inositol-polyphosphate phosphatase 1
13 variants Chr 10 "Phosphoinositide phosphatases...
RGR
retinal G protein coupled receptor
13 variants Chr 10 Opsin receptors
ADK
adenosine kinase
12 variants Chr 10
DIP2C
DIP2 acetate--CoA ligase C (putative)
12 variants Chr 10 "MicroRNA protein coding host ...
LRMDA
leucine rich melanocyte differentiation associated
12 variants Chr 10 MicroRNA protein coding host g...
MTPAP
mitochondrial poly(A) polymerase
12 variants Chr 10 "Non-canonical poly(A) polymer...
NHLRC2
NHL repeat containing 2
12 variants Chr 10
PNLIP
pancreatic lipase
12 variants Chr 10 Lipases
SLC18A2
solute carrier family 18 member A2
11 variants Chr 10 Solute carrier family 18
WDR37
WD repeat domain 37
11 variants Chr 10 WD repeat domain containing
OGDHL
oxoglutarate dehydrogenase L
10 variants Chr 10 "Oxoglutarate dehydrogenase fa...
RAB18
RAB18, member RAS oncogene family
10 variants Chr 10 RAB, member RAS oncogene GTPas...
SFTPA2
surfactant protein A2
10 variants Chr 10 "Collectins|C-type lectin doma...
CYP2C9
cytochrome P450 family 2 subfamily C member 9
9 variants Chr 10 Cytochrome P450 family 2
ERLIN1
ER lipid raft associated 1
9 variants Chr 10 Small nucleolar RNA protein co...
MBL2
mannose binding lectin 2
9 variants Chr 10 "Collectins|Complement system ...
PIK3AP1
phosphoinositide-3-kinase adaptor protein 1
9 variants Chr 10
PRDX3
peroxiredoxin 3
9 variants Chr 10 Peroxiredoxins
SLC18A3
solute carrier family 18 member A3
9 variants Chr 10 Solute carrier family 18
TCF7L2
transcription factor 7 like 2
9 variants Chr 10 "TCF/LEF transcription factor ...
TUBGCP2
tubulin gamma complex component 2
9 variants Chr 10 Tubulin gamma complex componen...
CELF2
CUGBP Elav-like family member 2
8 variants Chr 10 RNA binding motif containing
PITX3
paired like homeodomain 3
8 variants Chr 10 PRD class homeoboxes and pseud...
SVIL
supervillin
8 variants Chr 10 "Gelsolin/villins|MicroRNA pro...
ANXA11
annexin A11
7 variants Chr 10 Annexins
ARL3
ARF like GTPase 3
7 variants Chr 10 ARF GTPase family
FAM149B1
family with sequence similarity 149 member B1
7 variants Chr 10
FRA10AC1
FRA10A associated CGG repeat 1
7 variants Chr 10 Spliceosomal C complex
HKDC1
hexokinase domain containing 1
7 variants Chr 10 Hexokinase family
IKZF5
IKAROS family zinc finger 5
7 variants Chr 10 Zinc fingers C2H2-type
MYOF
myoferlin
7 variants Chr 10 Ferlin family
SLC16A12
solute carrier family 16 member 12
7 variants Chr 10 Solute carrier family 16
STN1
STN1 subunit of CST complex
7 variants Chr 10 CST complex
BBIP1
BBSome interacting protein 1
6 variants Chr 10 BBSome
CFAP58
cilia and flagella associated protein 58
6 variants Chr 10 Cilia and flagella associated
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