Gene Directory
221 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)
FBN1
fibrillin 1
BLM
BLM RecQ like helicase
SPG11
SPG11 vesicle trafficking associated, spatacsin
POLG
DNA polymerase gamma, catalytic subunit
CAPN3
calpain 3
CHD2
chromodomain helicase DNA binding protein 2
ALPK3
alpha kinase 3
OCA2
OCA2 melanosomal transmembrane protein
DUOX2
dual oxidase 2
FANCI
FA complementation group I
HEXA
hexosaminidase subunit alpha
UBE3A
ubiquitin protein ligase E3A
SLC12A6
solute carrier family 12 member 6
SMAD3
SMAD family member 3
FAH
fumarylacetoacetate hydrolase
CEP152
centrosomal protein 152
SPRED1
sprouty related EVH1 domain containing 1
IVD
isovaleryl-CoA dehydrogenase
TRPM1
transient receptor potential cation channel subfamily M member 1
NR2E3
nuclear receptor subfamily 2 group E member 3
ACAN
aggrecan
KIF7
kinesin family member 7
MAGEL2
MAGE family member L2
BBS4
Bardet-Biedl syndrome 4
CLN6
CLN6 transmembrane ER protein
SLC12A1
solute carrier family 12 member 1
MPI
mannose phosphate isomerase
TPM1
tropomyosin 1
ADAMTS17
ADAM metallopeptidase with thrombospondin type 1 motif 17
SMAD6
SMAD family member 6
IGF1R
insulin like growth factor 1 receptor
BUB1B
BUB1 mitotic checkpoint serine/threonine kinase B
SIN3A
SIN3 transcription regulator family member A
TCF12
transcription factor 12
GABRB3
gamma-aminobutyric acid type A receptor subunit beta3
HCN4
hyperpolarization activated cyclic nucleotide gated potassium channel 4
UBR1
ubiquitin protein ligase E3 component n-recognin 1
CDAN1
codanin 1
ETFA
electron transfer flavoprotein subunit alpha
VPS13C
vacuolar protein sorting 13 homolog C
EIF2AK4
eukaryotic translation initiation factor 2 alpha kinase 4
CYP19A1
cytochrome P450 family 19 subfamily A member 1
DMXL2
Dmx like 2
STRC
stereocilin
VPS33B
VPS33B late endosome and lysosome associated
RLBP1
retinaldehyde binding protein 1
SLC24A1
solute carrier family 24 member 1
AP3B2
adaptor related protein complex 3 subunit beta 2
ACTC1
actin alpha cardiac muscle 1
MESP2
mesoderm posterior bHLH transcription factor 2
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