Gene Directory
242 genes with known genetic variants in our database.
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)
WFS1
wolframin ER transmembrane glycoprotein
CC2D2A
coiled-coil and C2 domain containing 2A
FRAS1
Fraser extracellular matrix complex subunit 1
ANK2
ankyrin 2
EVC2
EvC ciliary complex subunit 2
IDUA
alpha-L-iduronidase
EVC
EvC ciliary complex subunit 1
PKD2
polycystin 2, transient receptor potential cation channel
ETFDH
electron transfer flavoprotein dehydrogenase
KIT
KIT proto-oncogene, receptor tyrosine kinase
PDGFRA
platelet derived growth factor receptor alpha
PDE6B
phosphodiesterase 6B
PROM1
prominin 1
F11
coagulation factor XI
BBS12
Bardet-Biedl syndrome 12
DOK7
docking protein 7
FAT4
FAT atypical cadherin 4
LRBA
LPS responsive beige-like anchor protein
MTTP
microsomal triglyceride transfer protein
MFSD8
major facilitator superfamily domain containing 8
WDR19
WD repeat domain 19
MMAA
metabolism of cobalamin associated A
BBS7
Bardet-Biedl syndrome 7
NEK1
NIMA related kinase 1
SGCB
sarcoglycan beta
NFKB1
nuclear factor kappa B subunit 1
UGT2B7
UDP glucuronosyltransferase family 2 member B7
NAA15
N-alpha-acetyltransferase 15, NatA auxiliary subunit
MANBA
mannosidase beta
AFG2A
AAA ATPase AFG2A
TET2
tet methylcytosine dioxygenase 2
PHOX2B
paired like homeobox 2B
FGFR3
fibroblast growth factor receptor 3
PIGG
phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)
CFI
complement factor I
AGA
aspartylglucosaminidase
CYP4V2
cytochrome P450 family 4 subfamily V member 2
CNGA1
cyclic nucleotide gated channel subunit alpha 1
HADH
hydroxyacyl-CoA dehydrogenase
TBCK
TBC1 domain containing kinase
SEPSECS
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
TRAPPC11
trafficking protein particle complex subunit 11
PRDM5
PR/SET domain 5
NSD2
nuclear receptor binding SET domain protein 2
PITX2
paired like homeodomain 2
CEP135
centrosomal protein 135
LARP7
La ribonucleoprotein 7, transcriptional regulator
FAT1
FAT atypical cadherin 1
DSPP
dentin sialophosphoprotein
CYP2U1
cytochrome P450 family 2 subfamily U member 1
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