Gene Directory
286 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)
CFTR
CF transmembrane conductance regulator
PMS2
PMS1 homolog 2, mismatch repair system component
DNAH11
dynein axonemal heavy chain 11
FLNC
filamin C
KCNH2
potassium voltage-gated channel subfamily H member 2
ABCB1
ATP binding cassette subfamily B member 1
COL1A2
collagen type I alpha 2 chain
GCK
glucokinase
SLC26A4
solute carrier family 26 member 4
PEX1
peroxisomal biogenesis factor 1
RELN
reelin
MET
MET proto-oncogene, receptor tyrosine kinase
CLCN1
chloride voltage-gated channel 1
EGFR
epidermal growth factor receptor
POT1
protection of telomeres 1
KRIT1
KRIT1 ankyrin repeat containing
GLI3
GLI family zinc finger 3
AKAP9
A-kinase anchoring protein 9
ASL
argininosuccinate lyase
ELN
elastin
ABCB4
ATP binding cassette subfamily B member 4
SLC25A13
solute carrier family 25 member 13
KMT2C
lysine methyltransferase 2C
CNTNAP2
contactin associated protein 2
TFR2
transferrin receptor 2
EPHB4
EPH receptor B4
BRAT1
BRCA1 associated ATM activator 1
BBS9
Bardet-Biedl syndrome 9
AP5Z1
adaptor related protein complex 5 subunit zeta 1
BRAF
B-Raf proto-oncogene, serine/threonine kinase
SGCE
sarcoglycan epsilon
AUTS2
activator of transcription and developmental regulator AUTS2
PRKAG2
protein kinase AMP-activated non-catalytic subunit gamma 2
ASNS
asparagine synthetase (glutamine-hydrolyzing)
KMT2E
lysine methyltransferase 2E (inactive)
POR
cytochrome p450 oxidoreductase
DLD
dihydrolipoamide dehydrogenase
ACTB
actin beta
SLC26A3
solute carrier family 26 member 3
GUSB
glucuronidase beta
CARD11
caspase recruitment domain family member 11
CDK13
cyclin dependent kinase 13
PCLO
piccolo presynaptic cytomatrix protein
TRRAP
transformation/transcription domain associated protein
CRPPA
CDP-L-ribitol pyrophosphorylase A
CCM2
CCM2 scaffold protein
DDC
dopa decarboxylase
COG5
component of oligomeric golgi complex 5
RINT1
RAD50 interactor 1
SAMD9
sterile alpha motif domain containing 9
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