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)
CPLANE1
ciliogenesis and planar polarity effector complex subunit 1
357 variants Chr 5 Ciliogenesis and planar polari...
HNF1A
HNF1 homeobox A
356 variants Chr 12 HNF class homeoboxes
STXBP1
syntaxin binding protein 1
356 variants Chr 9
EHMT1
euchromatic histone lysine methyltransferase 1
355 variants Chr 9 "Ankyrin repeat domain contain...
IFT140
intraflagellar transport 140
355 variants Chr 16 "WD repeat domain containing|I...
ALPK3
alpha kinase 3
352 variants Chr 15 "I-set domain containing|Alpha...
EVC2
EvC ciliary complex subunit 2
348 variants Chr 4
OPA1
OPA1 mitochondrial dynamin like GTPase
348 variants Chr 3 Dynamin superfamily
SPTA1
spectrin alpha, erythrocytic 1
348 variants Chr 1 "EF-hand domain containing|Spe...
LRPPRC
leucine rich pentatricopeptide repeat containing
347 variants Chr 2 "Mitochondrial respiratory cha...
SLC2A1
solute carrier family 2 member 1
346 variants Chr 1 Solute carrier family 2
IDUA
alpha-L-iduronidase
344 variants Chr 4 Glycoside hydrolase family
EVC
EvC ciliary complex subunit 1
342 variants Chr 4
NF2
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
341 variants Chr 22 "A-kinase anchoring proteins|F...
LYST
lysosomal trafficking regulator
340 variants Chr 1 "WD repeat domain containing|B...
RP1
RP1 axonemal microtubule associated
337 variants Chr 8 Doublecortin superfamily
NBAS
NBAS subunit of NRZ tethering complex
336 variants Chr 2 NRZ tethering complex
RPGRIP1L
RPGRIP1 like
335 variants Chr 16 "Protein phosphatase 1 regulat...
EGFR
epidermal growth factor receptor
331 variants Chr 7 Erb-b2 receptor tyrosine kinas...
OCA2
OCA2 melanosomal transmembrane protein
330 variants Chr 15 Solute carrier family 13
ACADM
acyl-CoA dehydrogenase medium chain
326 variants Chr 1 "Acyl-CoA dehydrogenase family...
GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B
325 variants Chr 12 Glutamate ionotropic receptor ...
SYNE2
spectrin repeat containing nuclear envelope protein 2
324 variants Chr 14 "Spectrin repeat containing nu...
SH3TC2
SH3 domain and tetratricopeptide repeats 2
322 variants Chr 5 "Tetratricopeptide repeat doma...
PEX6
peroxisomal biogenesis factor 6
321 variants Chr 6 "AAA ATPases|Peroxins"
CACNA1C
calcium voltage-gated channel subunit alpha1 C
320 variants Chr 12 Calcium voltage-gated channel ...
RTEL1
regulator of telomere elongation helicase 1
320 variants Chr 20 DEAH-box helicases
ELP1
elongator acetyltransferase complex subunit 1
319 variants Chr 9 Elongator acetyltransferase co...
IDS
iduronate 2-sulfatase
318 variants Chr X Sulfatases
FANCD2
FA complementation group D2
316 variants Chr 3 "FA complementation groups|Arm...
LAMB3
laminin subunit beta 3
315 variants Chr 1 "Laminin subunits|MicroRNA pro...
ABCC6
ATP binding cassette subfamily C member 6
314 variants Chr 16 ATP binding cassette subfamily...
AR
androgen receptor
313 variants Chr X Nuclear receptor subfamily 3 g...
PYGM
glycogen phosphorylase, muscle associated
313 variants Chr 11 Glycogen phosphorylases
ARSA
arylsulfatase A
312 variants Chr 22 Sulfatases
HSPG2
heparan sulfate proteoglycan 2
312 variants Chr 1 "Proteoglycans|I-set domain co...
PRPH2
peripherin 2
309 variants Chr 6 Tetraspanins
RAI1
retinoic acid induced 1
308 variants Chr 17 PHD finger proteins
TG
thyroglobulin
307 variants Chr 8
CTNNA1
catenin alpha 1
306 variants Chr 5 Alpha catenins
EP300
EP300 lysine acetyltransferase
305 variants Chr 22 "Zinc fingers ZZ-type|Lysine a...
MED13L
mediator complex subunit 13L
304 variants Chr 12 "Mediator complex|MicroRNA pro...
POT1
protection of telomeres 1
304 variants Chr 7 Shelterin complex
TGM1
transglutaminase 1
304 variants Chr 14 Transglutaminases
AGXT
alanine--glyoxylate aminotransferase
303 variants Chr 2 Transaminases
DSG2
desmoglein 2
303 variants Chr 18 Desmosomal cadherins
POMGNT1
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
303 variants Chr 1 O-linked N-acetylglucosaminylt...
LAMA3
laminin subunit alpha 3
302 variants Chr 18 Laminin subunits
HNF1B
HNF1 homeobox B
301 variants Chr 17 HNF class homeoboxes
SLC22A5
solute carrier family 22 member 5
301 variants Chr 5 Solute carrier family 22
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