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)
TRAPPC9
trafficking protein particle complex subunit 9
114 variants Chr 8 Trafficking protein particle c...
CYP21A2
cytochrome P450 family 21 subfamily A member 2
113 variants Chr 6 Cytochrome P450 family 21
CYP7B1
cytochrome P450 family 7 subfamily B member 1
113 variants Chr 8 Cytochrome P450 family 7
INPP5E
inositol polyphosphate-5-phosphatase E
113 variants Chr 9 Phosphoinositide phosphatases
NAA15
N-alpha-acetyltransferase 15, NatA auxiliary subunit
113 variants Chr 4 "N-alpha-acetyltransferase sub...
TRIOBP
TRIO and F-actin binding protein
113 variants Chr 22 Pleckstrin homology domain con...
FANCL
FA complementation group L
112 variants Chr 2 "PHD finger proteins|FA comple...
KCNMA1
potassium calcium-activated channel subfamily M alpha 1
112 variants Chr 10 Potassium calcium-activated ch...
MANBA
mannosidase beta
112 variants Chr 4 Mannosidases type beta
MEGF10
multiple EGF like domains 10
112 variants Chr 5 Scavenger receptors
PEX5
peroxisomal biogenesis factor 5
112 variants Chr 12 "Tetratricopeptide repeat doma...
SERPINA1
serpin family A member 1
112 variants Chr 14 Serpin peptidase inhibitors
SGCG
sarcoglycan gamma
112 variants Chr 13
ADAMTS17
ADAM metallopeptidase with thrombospondin type 1 motif 17
111 variants Chr 15 ADAM metallopeptidases with th...
AFG2A
AAA ATPase AFG2A
111 variants Chr 4 AAA ATPases
ATL1
atlastin GTPase 1
111 variants Chr 14 Atlastins
COLQ
collagen like tail subunit of asymmetric acetylcholinesterase
111 variants Chr 3 MicroRNA protein coding host g...
GAMT
guanidinoacetate N-methyltransferase
111 variants Chr 19 "7BS small molecule methyltran...
KCNV2
potassium voltage-gated channel modifier subfamily V member 2
111 variants Chr 9 Potassium voltage-gated channe...
MEF2C
myocyte enhancer factor 2C
111 variants Chr 5 "Myocyte enhancer factor 2 pro...
NLRP12
NLR family pyrin domain containing 12
111 variants Chr 19 "NLR family|Pyrin domain conta...
SMAD6
SMAD family member 6
111 variants Chr 15 SMAD family
SOS2
SOS Ras/Rho guanine nucleotide exchange factor 2
111 variants Chr 14 "Pleckstrin homology domain co...
TECPR2
tectonin beta-propeller repeat containing 2
111 variants Chr 14
USP9X
ubiquitin specific peptidase 9 X-linked
111 variants Chr X "Ubiquitin specific peptidases...
INSR
insulin receptor
110 variants Chr 19 "CD molecules|Fibronectin type...
MOCS1
molybdenum cofactor synthesis 1
110 variants Chr 6 Radical S-adenosylmethionine d...
NKX2-1
NK2 homeobox 1
110 variants Chr 14 NKL subclass homeoboxes and ps...
AIP
AHR interacting HSP90 co-chaperone
109 variants Chr 11 "FKBP prolyl isomerase family|...
GALK1
galactokinase 1
109 variants Chr 17
SDHC
succinate dehydrogenase complex subunit C
109 variants Chr 1 Mitochondrial complex II: succ...
TAFAZZIN
tafazzin, phospholipid-lysophospholipid transacylase
109 variants Chr X
TET2
tet methylcytosine dioxygenase 2
109 variants Chr 4 Tet methylcytosine dioxygenase...
FREM1
FRAS1 related extracellular matrix 1
108 variants Chr 9 C-type lectin domain containin...
NDUFAF5
NADH:ubiquinone oxidoreductase complex assembly factor 5
108 variants Chr 20 "Mitochondrial respiratory cha...
NPR2
natriuretic peptide receptor 2
108 variants Chr 9 "Transmembrane guanylate cycla...
PHOX2B
paired like homeobox 2B
108 variants Chr 4 PRD class homeoboxes and pseud...
SEC23B
SEC23 homolog B, COPII component
108 variants Chr 20 Coat protein complex II
TGFB2
transforming growth factor beta 2
108 variants Chr 1 Transforming growth factor bet...
TSEN54
tRNA splicing endonuclease subunit 54
108 variants Chr 17 tRNA-splicing endonuclease sub...
ADSL
adenylosuccinate lyase
107 variants Chr 22 Purinosome
C2CD3
C2 domain containing 3 centriole elongation regulator
107 variants Chr 11 C2 domain containing
CAD
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
107 variants Chr 2 Glutamine amidotransferase cla...
CP
ceruloplasmin
107 variants Chr 3 Multicopper ferroxidase family
DNMT1
DNA methyltransferase 1
107 variants Chr 19 "Zinc fingers CXXC-type|7BS C5...
KCNJ2
potassium inwardly rectifying channel subfamily J member 2
107 variants Chr 17 Potassium inwardly rectifying ...
MACF1
microtubule actin crosslinking factor 1
107 variants Chr 1 "EF-hand domain containing|Pla...
MMAB
metabolism of cobalamin associated B
107 variants Chr 12 Cilia and flagella associated
MUSK
muscle associated receptor tyrosine kinase
107 variants Chr 9 "Receptor tyrosine kinases|I-s...
NR5A1
nuclear receptor subfamily 5 group A member 1
107 variants Chr 9 Nuclear receptor subfamily 5 g...
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