Gene Directory
386 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)
ATM
ATM serine/threonine kinase
MYBPC3
myosin binding protein C3
MYO7A
myosin VIIA
ABCC8
ATP binding cassette subfamily C member 8
MEN1
menin 1
DYNC2H1
dynein cytoplasmic 2 heavy chain 1
KCNQ1
potassium voltage-gated channel subfamily Q member 1
KMT2A
lysine methyltransferase 2A
SMPD1
sphingomyelin phosphodiesterase 1
HBB
hemoglobin subunit beta
PAX6
paired box 6
PYGM
glycogen phosphorylase, muscle associated
DHCR7
7-dehydrocholesterol reductase
TCIRG1
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3
LRP5
LDL receptor related protein 5
BEST1
bestrophin 1
MRE11
MRE11 double strand break repair nuclease
TYR
tyrosinase
PC
pyruvate carboxylase
IGHMBP2
immunoglobulin mu DNA binding protein 2
SERPING1
serpin family G member 1
WT1
WT1 transcription factor
ANO5
anoctamin 5
TPP1
tripeptidyl peptidase 1
BBS1
Bardet-Biedl syndrome 1
TECTA
tectorin alpha
USH1C
USH1 protein network component harmonin
TH
tyrosine hydroxylase
EXT2
exostosin glycosyltransferase 2
ACAT1
acetyl-CoA acetyltransferase 1
SPTBN2
spectrin beta, non-erythrocytic 2
OTOG
otogelin
SLC37A4
solute carrier family 37 member 4
CPT1A
carnitine palmitoyltransferase 1A
RAG1
recombination activating 1
KCNJ11
potassium inwardly rectifying channel subfamily J member 11
CDKN1C
cyclin dependent kinase inhibitor 1C
HMBS
hydroxymethylbilane synthase
SDHD
succinate dehydrogenase complex subunit D
CBL
Cbl proto-oncogene
CEP164
centrosomal protein 164
SBF2
SET binding factor 2
HPS5
HPS5 biogenesis of lysosomal organelles complex 2 subunit 2
RAG2
recombination activating 2
RAPSN
receptor associated protein of the synapse
DEAF1
DEAF1 transcription factor
AIP
AHR interacting HSP90 co-chaperone
C2CD3
C2 domain containing 3 centriole elongation regulator
DCHS1
dachsous cadherin-related 1
PTS
6-pyruvoyltetrahydropterin synthase
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