Gene Directory

6,394 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)
CC2D2A
coiled-coil and C2 domain containing 2A
437 variants Chr 4 MKS complex
POLD1
DNA polymerase delta 1, catalytic subunit
437 variants Chr 19 DNA polymerases
VHL
von Hippel-Lindau tumor suppressor
437 variants Chr 3
VWF
von Willebrand factor
429 variants Chr 12 Receptor ligands
ZEB2
zinc finger E-box binding homeobox 2
428 variants Chr 2 "Zinc fingers C2H2-type|ZF cla...
COL11A2
collagen type XI alpha 2 chain
424 variants Chr 6 Fibrillar collagens
VPS13A
vacuolar protein sorting 13 homolog A
423 variants Chr 9 Bridge-like lipid transfer pro...
ALPL
alkaline phosphatase, biomineralization associated
420 variants Chr 1 Alkaline phosphatases
PCDH19
protocadherin 19
418 variants Chr X Non-clustered protocadherins
GNPTAB
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
415 variants Chr 12 EF-hand domain containing
CPS1
carbamoyl-phosphate synthase 1
413 variants Chr 2 Glutamine amidotransferase cla...
ERCC6
ERCC excision repair 6, chromatin remodeling factor
413 variants Chr 10 "SNF2 related family|ERCC exci...
FRAS1
Fraser extracellular matrix complex subunit 1
411 variants Chr 4
GRIN2A
glutamate ionotropic receptor NMDA type subunit 2A
410 variants Chr 16 Glutamate ionotropic receptor ...
CASR
calcium sensing receptor
407 variants Chr 3 Calcium sensing receptors
SMPD1
sphingomyelin phosphodiesterase 1
406 variants Chr 11
SLC12A3
solute carrier family 12 member 3
405 variants Chr 16 "MicroRNA protein coding host ...
RELN
reelin
404 variants Chr 7
EXT1
exostosin glycosyltransferase 1
401 variants Chr 8 Exostosin glycosyltransferase ...
BMPR1A
bone morphogenetic protein receptor type 1A
400 variants Chr 10 "Type 1 receptor serine/threon...
COL4A1
collagen type IV alpha 1 chain
400 variants Chr 13 Network forming collagens
HBB
hemoglobin subunit beta
398 variants Chr 11 Hemoglobin subunits
SCN8A
sodium voltage-gated channel alpha subunit 8
394 variants Chr 12 Sodium voltage-gated channel a...
NOTCH3
notch receptor 3
392 variants Chr 19 "Notch receptors|MicroRNA prot...
PIEZO1
piezo type mechanosensitive ion channel component 1 (Er blood group)
390 variants Chr 16 "Blood group antigens|MicroRNA...
SMAD4
SMAD family member 4
390 variants Chr 18 SMAD family
TERT
telomerase reverse transcriptase
389 variants Chr 5 Telomerase holoenzyme subunits
COL12A1
collagen type XII alpha 1 chain
386 variants Chr 6 "Fibronectin type III domain c...
LRP2
LDL receptor related protein 2
386 variants Chr 2 Low density lipoprotein recept...
MET
MET proto-oncogene, receptor tyrosine kinase
386 variants Chr 7 "Receptor tyrosine kinases|IPT...
ANK2
ankyrin 2
385 variants Chr 4 "Ankyrin repeat domain contain...
ATP7A
ATPase copper transporting alpha
385 variants Chr X ATPase copper transporting
CHD2
chromodomain helicase DNA binding protein 2
385 variants Chr 15 "Helicases|SNF2 related family...
SDHA
succinate dehydrogenase complex flavoprotein subunit A
384 variants Chr 5 "Mitochondrial complex II: suc...
RBM20
RNA binding motif protein 20
381 variants Chr 10 "Zinc fingers matrin-type|RNA ...
SPTB
spectrin beta, erythrocytic
378 variants Chr 14 "Pleckstrin homology domain co...
ANK1
ankyrin 1
374 variants Chr 8 "Ankyrin repeat domain contain...
FANCC
FA complementation group C
371 variants Chr 9 "FA complementation groups|FA ...
PAX6
paired box 6
370 variants Chr 11 "PRD class homeoboxes and pseu...
GALC
galactosylceramidase
368 variants Chr 14 Glycoside hydrolase family
MMUT
methylmalonyl-CoA mutase
368 variants Chr 6
OTC
ornithine transcarbamylase
368 variants Chr X
RAD51D
RAD51 paralog D
368 variants Chr 17 RAD51 paralogs
GALNS
galactosamine (N-acetyl)-6-sulfatase
367 variants Chr 16 Sulfatases
MAN2B1
mannosidase alpha class 2B member 1
367 variants Chr 19 Mannosidases alpha class 2
ABCB11
ATP binding cassette subfamily B member 11
366 variants Chr 2 ATP binding cassette subfamily...
ALK
ALK receptor tyrosine kinase
365 variants Chr 2 "Receptor tyrosine kinases|CD ...
DEPDC5
DEP domain containing 5, GATOR1 subcomplex subunit
361 variants Chr 22 "GATOR1 subcomplex|DEP domain ...
FLNB
filamin B
360 variants Chr 3 Filamin family
CLCN1
chloride voltage-gated channel 1
357 variants Chr 7 CLC chloride channel and trans...
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