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)
BBS7
Bardet-Biedl syndrome 7
140 variants Chr 4 BBSome
TP63
tumor protein p63
140 variants Chr 3 MicroRNA protein coding host g...
ASPA
aspartoacylase
139 variants Chr 17
KMT2E
lysine methyltransferase 2E (inactive)
139 variants Chr 7 "PHD finger proteins|SET domai...
MERTK
MER proto-oncogene, tyrosine kinase
139 variants Chr 2 "Receptor tyrosine kinases|Fib...
MTRR
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
139 variants Chr 5 Flavoproteins
PEX7
peroxisomal biogenesis factor 7
139 variants Chr 6 "WD repeat domain containing|P...
ADA
adenosine deaminase
138 variants Chr 20 Adenosine deaminase family
FGFR2
fibroblast growth factor receptor 2
138 variants Chr 10 "Receptor tyrosine kinases|CD ...
NEK1
NIMA related kinase 1
138 variants Chr 4 NIMA related kinase family
PROS1
protein S
138 variants Chr 3 Gla domain containing
RUNX2
RUNX family transcription factor 2
138 variants Chr 6 Runt-related transcription fac...
SMARCA2
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2
138 variants Chr 9 "SNF2 related family|Bromodoma...
TJP2
tight junction protein 2
138 variants Chr 9 "Membrane associated guanylate...
TMC1
transmembrane channel like 1
138 variants Chr 9 Transmembrane channel like fam...
CDHR1
cadherin related family member 1
137 variants Chr 10 Cadherin related
ESCO2
establishment of sister chromatid cohesion N-acetyltransferase 2
137 variants Chr 8 Lysine acetyltransferases
MYH6
myosin heavy chain 6
137 variants Chr 14 "Myosin heavy chains, class II...
NFIX
nuclear factor I X
137 variants Chr 19 Nuclear factor I family
RPS6KA3
ribosomal protein S6 kinase A3
137 variants Chr X "MAPK activated protein kinase...
TPO
thyroid peroxidase
137 variants Chr 2 "Sushi domain containing|Heme ...
CBL
Cbl proto-oncogene
136 variants Chr 11 Ring finger proteins
CEP164
centrosomal protein 164
136 variants Chr 11
FBXO11
F-box protein 11
136 variants Chr 2 "F-boxes other|Ubiquitin prote...
POR
cytochrome p450 oxidoreductase
136 variants Chr 7 "MicroRNA protein coding host ...
PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha
136 variants Chr 17 Protein kinase A subunits
SGCB
sarcoglycan beta
136 variants Chr 4
DNAH8
dynein axonemal heavy chain 8
135 variants Chr 6 Dyneins, axonemal outer arm co...
FOXL2
forkhead box L2
135 variants Chr 3 Forkhead boxes
MLH3
mutL homolog 3
135 variants Chr 14 MutL homologs
HOGA1
4-hydroxy-2-oxoglutarate aldolase 1
134 variants Chr 10
MKKS
MKKS centrosomal shuttling protein
134 variants Chr 20 Chaperonins
MTOR
mechanistic target of rapamycin kinase
134 variants Chr 1 "MTOR complex 1|MTOR complex 2...
MVK
mevalonate kinase
134 variants Chr 12
MYO5B
myosin VB
134 variants Chr 18 "Myosin heavy chains, class V|...
OBSL1
obscurin like cytoskeletal adaptor 1
134 variants Chr 2 "I-set domain containing|Micro...
ALDOB
aldolase, fructose-bisphosphate B
133 variants Chr 9 Aldolases
DNAH1
dynein axonemal heavy chain 1
133 variants Chr 3 Dyneins, axonemal inner arm I1...
HUWE1
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1
133 variants Chr X "Armadillo like helical domain...
ROR2
receptor tyrosine kinase like orphan receptor 2
133 variants Chr 9 "Receptor tyrosine kinases|I-s...
EMD
emerin
132 variants Chr X LEM domain containing
MPI
mannose phosphate isomerase
132 variants Chr 15
MYH14
myosin heavy chain 14
132 variants Chr 19 Myosin heavy chains, class II
NLRP3
NLR family pyrin domain containing 3
132 variants Chr 1 "NLR family|Pyrin domain conta...
CYP11B2
cytochrome P450 family 11 subfamily B member 2
131 variants Chr 8 Cytochrome P450 family 11
GLE1
GLE1 RNA export mediator
131 variants Chr 9 Nucleoporins
MLC1
modulator of VRAC current 1
131 variants Chr 22
MYH2
myosin heavy chain 2
131 variants Chr 17 Myosin heavy chains, class II
SBF2
SET binding factor 2
131 variants Chr 11 "DENN domain containing|Plecks...
SLC17A5
solute carrier family 17 member 5
131 variants Chr 6 Solute carrier family 17
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