Trait

Abnormal gait

Clinical name: Gait disturbance

The term gait disturbance can refer to any disruption of the ability to walk.

HPO HP:0001288

Also called: Abnormal walk, Difficulty in walking, Impaired gait, Gait abnormalities, Gait difficulties, Gait disturbances, Walking disability
Body system: Abnormality of the nervous system

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228 condition reports read genes linked to this trait

Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.

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700 genes linked to Abnormal gait

Changes in these genes cause rare conditions in which Abnormal gait is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

Gene	How often it is seen	Conditions
AARS1alanyl-tRNA synthetase 1	Always	In 2 conditions
ABCB7ATP binding cassette subfamily B member 7	Always	In 1 condition
AHDC1AT-hook DNA binding motif containing 1	Always	In 1 condition
ALDH18A1aldehyde dehydrogenase 18 family member A1	Always	In 2 conditions
AMPD2adenosine monophosphate deaminase 2	Always	In 1 condition
ARHGAP19Rho GTPase activating protein 19	Always	In 1 condition
ASAH1N-acylsphingosine amidohydrolase 1	Always	In 2 conditions
BAG3BAG cochaperone 3	Always	In 1 condition
C19orf12chromosome 19 open reading frame 12	Always	In 2 conditions
CERS1ceramide synthase 1	Always	In 1 condition
CHCHD2coiled-coil-helix-coiled-coil-helix domain containing 2	Always	In 1 condition
COASYCoenzyme A synthase	Always	In 2 conditions
COQ7coenzyme Q7, hydroxylase	Always	In 1 condition
CPT1Ccarnitine palmitoyltransferase 1C	Always	In 2 conditions
CRELD1CRELD disulfide isomerase 1	Always	In 1 condition
CSF1Rcolony stimulating factor 1 receptor	Always	In 2 conditions
CYP27A1cytochrome P450 family 27 subfamily A member 1	Always	In 2 conditions
DAG1dystroglycan 1	Always	In 1 condition
DARS2aspartyl-tRNA synthetase 2, mitochondrial	Always	In 2 conditions
DEAF1DEAF1 transcription factor	Always	In 1 condition
DNA2DNA replication helicase/nuclease 2	Always	In 2 conditions
DNAJB2DnaJ heat shock protein family (Hsp40) member B2	Always	In 1 condition
ERLIN1ER lipid raft associated 1	Always	In 3 conditions
ERLIN2ER lipid raft associated 2	Always	In 2 conditions
FA2Hfatty acid 2-hydroxylase	Always	In 2 conditions
FAM177A1family with sequence similarity 177 member A1	Always	In 1 condition
GAAalpha glucosidase	Always	In 1 condition
GBE11,4-alpha-glucan branching enzyme 1	Always	In 2 conditions
GLB1galactosidase beta 1	Always	In 1 condition
GNPNAT1glucosamine-phosphate N-acetyltransferase 1	Always	In 1 condition
HSPB8heat shock protein family B (small) member 8	Always	In 1 condition
HTRA1HtrA serine peptidase 1	Always	In 3 conditions
INPP4Ainositol polyphosphate-4-phosphatase type I A	Always	In 1 condition
ISCUiron-sulfur cluster assembly enzyme	Always	In 1 condition
ITPR1inositol 1,4,5-trisphosphate receptor type 1	Always	In 3 conditions
ITPR3inositol 1,4,5-trisphosphate receptor type 3	Always	In 1 condition
JKAMPJNK1/MAPK8 associated membrane protein	Always	In 1 condition
KDM6Blysine demethylase 6B	Always	In 1 condition
KIF1Akinesin family member 1A	Always	In 1 condition
KLC4kinesin light chain 4	Always	In 1 condition

Show 660 more genes

Gene	How often it is seen	Conditions
KYkyphoscoliosis peptidase	Always	In 1 condition
LMNAlamin A/C	Always	In 5 conditions
LNPKlunapark, ER junction formation factor	Always	In 1 condition
LRP4LDL receptor related protein 4	Always	In 2 conditions
LYRM7LYR motif containing 7	Always	In 1 condition
MARS1methionyl-tRNA synthetase 1	Always	In 1 condition
MED23mediator complex subunit 23	Always	In 1 condition
MEGF10multiple EGF like domains 10	Always	In 1 condition
MFN2mitofusin 2	Always	In 2 conditions
MIEF2mitochondrial elongation factor 2	Always	In 1 condition
MMADHCmetabolism of cobalamin associated D	Always	In 2 conditions
MMP2matrix metallopeptidase 2	Always	In 1 condition
MPV17mitochondrial inner membrane protein MPV17	Always	In 2 conditions
MYO1Hmyosin IH	Always	In 1 condition
NDC1NDC1 transmembrane nucleoporin	Always	In 1 condition
NEFLneurofilament light chain	Always	In 3 conditions
NEUROG1neurogenin 1	Always	In 1 condition
NFU1NFU1 iron-sulfur cluster scaffold	Always	In 1 condition
PABPN1poly(A) binding protein nuclear 1	Always	In 1 condition
PANK2pantothenate kinase 2	Always	In 3 conditions
PDE8Bphosphodiesterase 8B	Always	In 2 conditions
PIGSphosphatidylinositol glycan anchor biosynthesis class S	Always	In 1 condition
PMP22peripheral myelin protein 22	Always	In 4 conditions
POLG2DNA polymerase gamma 2, accessory subunit	Always	In 2 conditions
PRKNparkin RBR E3 ubiquitin protein ligase	Always	In 1 condition
PTRHD1peptidyl-tRNA hydrolase domain containing 1	Always	In 1 condition
RAB11BRAB11B, member RAS oncogene family	Always	In 1 condition
RFC4replication factor C subunit 4	Always	In 1 condition
RIC1RIC1 partner of RAB6A GEF complex	Always	In 1 condition
RNU4-2RNA, U4 small nuclear 2	Always	In 1 condition
RPS6KC1ribosomal protein S6 kinase C1	Always	In 1 condition
RTN2reticulon 2	Always	In 2 conditions
SCN4Asodium voltage-gated channel alpha subunit 4	Always	In 5 conditions
SGCDsarcoglycan delta	Always	In 1 condition
SLC13A1solute carrier family 13 member 1	Always	In 1 condition
SLC25A19solute carrier family 25 member 19	Always	In 1 condition
SLC7A6OSsolute carrier family 7 member 6 opposite strand	Always	In 1 condition
SNAP25synaptosome associated protein 25	Always	In 1 condition
SNAPC4small nuclear RNA activating complex polypeptide 4	Always	In 1 condition
SPG21SPG21 abhydrolase domain containing, maspardin	Always	In 2 conditions
SPG7SPG7 matrix AAA peptidase subunit, paraplegin	Always	In 1 condition
SPTAN1spectrin alpha, non-erythrocytic 1	Always	In 2 conditions
SPTLC1serine palmitoyltransferase long chain base subunit 1	Always	In 2 conditions
SYT14synaptotagmin 14	Always	In 2 conditions
TCTN2tectonic family member 2	Always	In 2 conditions
TMCO1transmembrane and coiled-coil domains 1	Always	In 1 condition
TPM2tropomyosin 2	Always	In 3 conditions
TTPAalpha tocopherol transfer protein	Always	In 2 conditions
TUBA4Atubulin alpha 4a	Always	In 1 condition
UNC13Aunc-13 homolog A	Always	In 1 condition
VCPvalosin containing protein	Always	In 6 conditions
WSB2WD repeat and SOCS box containing 2	Always	In 1 condition
XRCC4X-ray repair cross complementing 4	Always	In 1 condition
YARS1tyrosyl-tRNA synthetase 1	Always	In 1 condition
ACOX1acyl-CoA oxidase 1	Very often (80–99%)	In 2 conditions
ADCY5adenylate cyclase 5	Very often (80–99%)	In 2 conditions
AP1S2adaptor related protein complex 1 subunit sigma 2	Very often (80–99%)	In 2 conditions
APPamyloid beta precursor protein	Very often (80–99%)	In 1 condition
APTXaprataxin	Very often (80–99%)	In 1 condition
ARandrogen receptor	Very often (80–99%)	In 1 condition
ATMATM serine/threonine kinase	Very often (80–99%)	In 2 conditions
ATP13A2ATPase cation transporting 13A2	Very often (80–99%)	In 5 conditions
ATP8A2ATPase phospholipid transporting 8A2	Very often (80–99%)	In 1 condition
B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2	Very often (80–99%)	In 1 condition
BAZ1Bbromodomain adjacent to zinc finger domain 1B	Very often (80–99%)	In 1 condition
BUD23BUD23 rRNA methyltransferase and ribosome maturation factor	Very often (80–99%)	In 1 condition
CA8carbonic anhydrase 8 (inactive)	Very often (80–99%)	In 1 condition
CASZ1castor zinc finger 1	Very often (80–99%)	In 1 condition
CCT5chaperonin containing TCP1 subunit 5	Very often (80–99%)	In 1 condition
CDKL5cyclin dependent kinase like 5	Very often (80–99%)	In 2 conditions
CLIP2CAP-Gly domain containing linker protein 2	Very often (80–99%)	In 1 condition
CRPPACDP-L-ribitol pyrophosphorylase A	Very often (80–99%)	In 2 conditions
DMDdystrophin	Very often (80–99%)	In 1 condition
DNAJC30DnaJ heat shock protein family (Hsp40) member C30	Very often (80–99%)	In 1 condition
DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A	Very often (80–99%)	In 3 conditions
EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2	Very often (80–99%)	In 1 condition
EIF4Heukaryotic translation initiation factor 4H	Very often (80–99%)	In 1 condition
ELNelastin	Very often (80–99%)	In 1 condition
ELOVL4ELOVL fatty acid elongase 4	Very often (80–99%)	In 1 condition
ELOVL5ELOVL fatty acid elongase 5	Very often (80–99%)	In 1 condition
FKBP10FKBP prolyl isomerase 10	Very often (80–99%)	In 1 condition
FKBP6FKBP prolyl isomerase family member 6 (inactive)	Very often (80–99%)	In 1 condition
FKRPfukutin related protein	Very often (80–99%)	In 4 conditions
FKTNfukutin	Very often (80–99%)	In 3 conditions
FLNCfilamin C	Very often (80–99%)	In 2 conditions
FMR1fragile X messenger ribonucleoprotein 1	Very often (80–99%)	In 1 condition
GABBR2gamma-aminobutyric acid type B receptor subunit 2	Very often (80–99%)	In 3 conditions
GABRDgamma-aminobutyric acid type A receptor subunit delta	Very often (80–99%)	In 1 condition
GANgigaxonin	Very often (80–99%)	In 1 condition
GBA2glucosylceramidase beta 2	Very often (80–99%)	In 1 condition
GJB1gap junction protein beta 1	Very often (80–99%)	In 2 conditions
GMPPBGDP-mannose pyrophosphorylase B	Very often (80–99%)	In 2 conditions
GTF2Igeneral transcription factor IIi	Very often (80–99%)	In 1 condition
GTF2IRD1GTF2I repeat domain containing 1	Very often (80–99%)	In 1 condition
GTF2IRD2GTF2I repeat domain containing 2	Very often (80–99%)	In 1 condition
HSPG2heparan sulfate proteoglycan 2	Very often (80–99%)	In 2 conditions
INTS1integrator complex subunit 1	Very often (80–99%)	In 1 condition
KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2	Very often (80–99%)	In 1 condition
KCND3potassium voltage-gated channel subfamily D member 3	Very often (80–99%)	In 1 condition
L1CAML1 cell adhesion molecule	Very often (80–99%)	In 1 condition
LAMP2lysosome associated membrane protein 2	Very often (80–99%)	In 1 condition
LARGE1LARGE xylosyl- and glucuronyltransferase 1	Very often (80–99%)	In 1 condition
LIMK1LIM domain kinase 1	Very often (80–99%)	In 1 condition
LUZP1leucine zipper protein 1	Very often (80–99%)	In 1 condition
MAFBMAF bZIP transcription factor B	Very often (80–99%)	In 1 condition
MCOLN1mucolipin TRP cation channel 1	Very often (80–99%)	In 1 condition
MECP2methyl-CpG binding protein 2	Very often (80–99%)	In 3 conditions
METTL27methyltransferase like 27	Very often (80–99%)	In 1 condition
MMP13matrix metallopeptidase 13	Very often (80–99%)	In 1 condition
MMP23Bmatrix metallopeptidase 23B	Very often (80–99%)	In 1 condition
MT-TKmitochondrially encoded tRNA-Lys (AAA/G)	Very often (80–99%)	In 1 condition
MTHFRmethylenetetrahydrofolate reductase	Very often (80–99%)	In 2 conditions
MYOTmyotilin	Very often (80–99%)	In 1 condition
NCF1neutrophil cytosolic factor 1	Very often (80–99%)	In 1 condition
NEU1neuraminidase 1	Very often (80–99%)	In 1 condition
NIPA1NIPA magnesium transporter 1	Very often (80–99%)	In 1 condition
NKX2-1NK2 homeobox 1	Very often (80–99%)	In 3 conditions
NTNG1netrin G1	Very often (80–99%)	In 1 condition
PAX7paired box 7	Very often (80–99%)	In 1 condition
PDK3pyruvate dehydrogenase kinase 3	Very often (80–99%)	In 1 condition
PDPNpodoplanin	Very often (80–99%)	In 1 condition
POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	Very often (80–99%)	In 1 condition
POMT1protein O-mannosyltransferase 1	Very often (80–99%)	In 4 conditions
POMT2protein O-mannosyltransferase 2	Very often (80–99%)	In 2 conditions
PRDM16PR/SET domain 16	Very often (80–99%)	In 1 condition
PRKCZprotein kinase C zeta	Very often (80–99%)	In 1 condition
REREarginine-glutamic acid dipeptide repeats	Very often (80–99%)	In 1 condition
RFC2replication factor C subunit 2	Very often (80–99%)	In 1 condition
RSPRY1ring finger and SPRY domain containing 1	Very often (80–99%)	In 1 condition
SAMD9Lsterile alpha motif domain containing 9 like	Very often (80–99%)	In 1 condition
SBF2SET binding factor 2	Very often (80–99%)	In 2 conditions
SH3TC2SH3 domain and tetratricopeptide repeats 2	Very often (80–99%)	In 2 conditions
SHQ1SHQ1, H/ACA ribonucleoprotein assembly factor	Very often (80–99%)	In 1 condition
SKISKI proto-oncogene	Very often (80–99%)	In 1 condition
SLC18A2solute carrier family 18 member A2	Very often (80–99%)	In 1 condition
SMC1Astructural maintenance of chromosomes 1A	Very often (80–99%)	In 1 condition
SPENspen family transcriptional repressor	Very often (80–99%)	In 1 condition
SPTBN2spectrin beta, non-erythrocytic 2	Very often (80–99%)	In 1 condition
STX1Asyntaxin 1A	Very often (80–99%)	In 1 condition
SYNE1spectrin repeat containing nuclear envelope protein 1	Very often (80–99%)	In 3 conditions
TBL2transducin beta like 2	Very often (80–99%)	In 1 condition
TBPTATA-box binding protein	Very often (80–99%)	In 1 condition
TCEAL1transcription elongation factor A like 1	Very often (80–99%)	In 1 condition
TMEM270transmembrane protein 270	Very often (80–99%)	In 1 condition
TOR1Atorsin family 1 member A	Very often (80–99%)	In 1 condition
TRIM32tripartite motif containing 32	Very often (80–99%)	In 1 condition
TTBK2tau tubulin kinase 2	Very often (80–99%)	In 1 condition
TUBB2Btubulin beta 2B class IIb	Very often (80–99%)	In 1 condition
UBAP1ubiquitin associated protein 1	Very often (80–99%)	In 2 conditions
UBE4Bubiquitination factor E4B	Very often (80–99%)	In 1 condition
VLDLRvery low density lipoprotein receptor	Very often (80–99%)	In 1 condition
VPS37DVPS37D subunit of ESCRT-I	Very often (80–99%)	In 1 condition
WASHC5WASH complex subunit 5	Very often (80–99%)	In 1 condition
WDR81WD repeat domain 81	Very often (80–99%)	In 1 condition
ZBTB20zinc finger and BTB domain containing 20	Very often (80–99%)	In 1 condition
ABHD5abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	Often (30–79%)	In 1 condition
ACTA1actin alpha 1, skeletal muscle	Often (30–79%)	In 4 conditions
ADARadenosine deaminase RNA specific	Often (30–79%)	In 2 conditions
AHI1Abelson helper integration site 1	Often (30–79%)	In 2 conditions
AIFM1apoptosis inducing factor mitochondria associated 1	Often (30–79%)	In 2 conditions
ALS2alsin Rho guanine nucleotide exchange factor ALS2	Often (30–79%)	In 2 conditions
ANO5anoctamin 5	Often (30–79%)	In 1 condition
AOPEPaminopeptidase O (putative)	Often (30–79%)	In 1 condition
AP4B1adaptor related protein complex 4 subunit beta 1	Often (30–79%)	In 1 condition
AP4E1adaptor related protein complex 4 subunit epsilon 1	Often (30–79%)	In 1 condition
AP4M1adaptor related protein complex 4 subunit mu 1	Often (30–79%)	In 1 condition
AP4S1adaptor related protein complex 4 subunit sigma 1	Often (30–79%)	In 1 condition
ARL13BARF like GTPase 13B	Often (30–79%)	In 1 condition
ARL3ARF like GTPase 3	Often (30–79%)	In 1 condition
ARL6IP1ARL6 interacting reticulophagy regulator 1	Often (30–79%)	In 1 condition
ARMC9armadillo repeat containing 9	Often (30–79%)	In 1 condition
ARSAarylsulfatase A	Often (30–79%)	In 2 conditions
ARSIarylsulfatase family member I	Often (30–79%)	In 1 condition
ARXaristaless related homeobox	Often (30–79%)	In 1 condition
ATAD1ATPase family AAA domain containing 1	Often (30–79%)	In 1 condition
ATL1atlastin GTPase 1	Often (30–79%)	In 1 condition
ATP6AP2ATPase H+ transporting accessory protein 2	Often (30–79%)	In 2 conditions
ATP7BATPase copper transporting beta	Often (30–79%)	In 1 condition
ATXN1ataxin 1	Often (30–79%)	In 1 condition
ATXN7L3ataxin 7 like 3	Often (30–79%)	In 1 condition
B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1	Often (30–79%)	In 2 conditions
B9D1B9 domain containing 1	Often (30–79%)	In 1 condition
B9D2B9 domain containing 2	Often (30–79%)	In 1 condition
BICD2BICD cargo adaptor 2	Often (30–79%)	In 1 condition
BIN1bridging integrator 1	Often (30–79%)	In 1 condition
C4Acomplement C4A (Chido/Rodgers blood group)	Often (30–79%)	In 1 condition
CAPN3calpain 3	Often (30–79%)	In 3 conditions
CASKcalcium/calmodulin dependent serine protein kinase	Often (30–79%)	In 1 condition
CBY1chibby 1, beta catenin antagonist	Often (30–79%)	In 1 condition
CC2D2Acoiled-coil and C2 domain containing 2A	Often (30–79%)	In 1 condition
CCR1C-C motif chemokine receptor 1	Often (30–79%)	In 1 condition
CEP104centrosomal protein 104	Often (30–79%)	In 1 condition
CEP120centrosomal protein 120	Often (30–79%)	In 2 conditions
CEP41centrosomal protein 41	Often (30–79%)	In 2 conditions
CFL2cofilin 2	Often (30–79%)	In 2 conditions
CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10	Often (30–79%)	In 2 conditions
CHRNGcholinergic receptor nicotinic gamma subunit	Often (30–79%)	In 2 conditions
CIZ1CDKN1A interacting zinc finger protein 1	Often (30–79%)	In 1 condition
COA8cytochrome c oxidase assembly factor 8	Often (30–79%)	In 1 condition
COL12A1collagen type XII alpha 1 chain	Often (30–79%)	In 1 condition
COL6A1collagen type VI alpha 1 chain	Often (30–79%)	In 1 condition
COL6A2collagen type VI alpha 2 chain	Often (30–79%)	In 1 condition
COL6A3collagen type VI alpha 3 chain	Often (30–79%)	In 1 condition
COMPcartilage oligomeric matrix protein	Often (30–79%)	In 1 condition
CPLANE1ciliogenesis and planar polarity effector complex subunit 1	Often (30–79%)	In 2 conditions
CSPP1centrosome and spindle pole associated protein 1	Often (30–79%)	In 1 condition
CST3cystatin C	Often (30–79%)	In 1 condition
CYP27B1cytochrome P450 family 27 subfamily B member 1	Often (30–79%)	In 2 conditions
CYP2R1cytochrome P450 family 2 subfamily R member 1	Often (30–79%)	In 2 conditions
DAB1DAB adaptor protein 1	Often (30–79%)	In 1 condition
DDHD2DDHD domain containing 2	Often (30–79%)	In 1 condition
DDX6DEAD-box helicase 6	Often (30–79%)	In 1 condition
DESdesmin	Often (30–79%)	In 1 condition
DKK1dickkopf Wnt signaling pathway inhibitor 1	Often (30–79%)	In 1 condition
DLATdihydrolipoamide S-acetyltransferase	Often (30–79%)	In 1 condition
DNM2dynamin 2	Often (30–79%)	In 1 condition
DNMT3BDNA methyltransferase 3 beta	Often (30–79%)	In 1 condition
DUX4double homeobox 4	Often (30–79%)	In 1 condition
DUX4L1double homeobox 4 like 1 (pseudogene)	Often (30–79%)	In 1 condition
DYMdymeclin	Often (30–79%)	In 1 condition
DYSFdysferlin	Often (30–79%)	In 1 condition
ELP1elongator acetyltransferase complex subunit 1	Often (30–79%)	In 1 condition
EMDemerin	Often (30–79%)	In 1 condition
ENTPD1ectonucleoside triphosphate diphosphohydrolase 1	Often (30–79%)	In 2 conditions
EPM2AEPM2A glucan phosphatase, laforin	Often (30–79%)	In 2 conditions
ERAP1endoplasmic reticulum aminopeptidase 1	Often (30–79%)	In 1 condition
ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit	Often (30–79%)	In 1 condition
ERCC4ERCC excision repair 4, endonuclease catalytic subunit	Often (30–79%)	In 1 condition
ERCC6ERCC excision repair 6, chromatin remodeling factor	Often (30–79%)	In 3 conditions
ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit	Often (30–79%)	In 4 conditions
FAM149B1family with sequence similarity 149 member B1	Often (30–79%)	In 1 condition
FASFas cell surface death receptor	Often (30–79%)	In 1 condition
FBP2fructose-bisphosphatase 2	Often (30–79%)	In 1 condition
FGF14fibroblast growth factor 14	Often (30–79%)	In 1 condition
FHL1four and a half LIM domains 1	Often (30–79%)	In 2 conditions
FLRT1fibronectin leucine rich transmembrane protein 1	Often (30–79%)	In 1 condition
FLVCR1FLVCR choline and heme transporter 1	Often (30–79%)	In 1 condition
FRG1FSHD region gene 1	Often (30–79%)	In 1 condition
FTLferritin light chain	Often (30–79%)	In 1 condition
FUSFUS RNA binding protein	Often (30–79%)	In 2 conditions
GALCgalactosylceramidase	Often (30–79%)	In 2 conditions
GBA1glucosylceramidase beta 1	Often (30–79%)	In 2 conditions
GBF1golgi brefeldin A resistant guanine nucleotide exchange factor 1	Often (30–79%)	In 1 condition
GDAP1ganglioside induced differentiation associated protein 1	Often (30–79%)	In 1 condition
GDAP2ganglioside induced differentiation associated protein 2	Often (30–79%)	In 1 condition
GJA1gap junction protein alpha 1	Often (30–79%)	In 1 condition
GJC2gap junction protein gamma 2	Often (30–79%)	In 1 condition
GLRA1glycine receptor alpha 1	Often (30–79%)	In 1 condition
GLRBglycine receptor beta	Often (30–79%)	In 1 condition
GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	Often (30–79%)	In 2 conditions
GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta	Often (30–79%)	In 1 condition
GNSglucosamine (N-acetyl)-6-sulfatase	Often (30–79%)	In 1 condition
GPAA1glycosylphosphatidylinositol anchor attachment 1	Often (30–79%)	In 1 condition
GPHNgephyrin	Often (30–79%)	In 1 condition
GPT2glutamic--pyruvic transaminase 2	Often (30–79%)	In 1 condition
GRID2glutamate ionotropic receptor delta type subunit 2	Often (30–79%)	In 1 condition
HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	Often (30–79%)	In 1 condition
HARS1histidyl-tRNA synthetase 1	Often (30–79%)	In 2 conditions
HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	Often (30–79%)	In 1 condition
HEXBhexosaminidase subunit beta	Often (30–79%)	In 1 condition
HINT1histidine triad nucleotide binding protein 1	Often (30–79%)	In 1 condition
HK1hexokinase 1	Often (30–79%)	In 2 conditions
HLA-Bmajor histocompatibility complex, class I, B	Often (30–79%)	In 1 condition
HNRNPA1heterogeneous nuclear ribonucleoprotein A1	Often (30–79%)	In 1 condition
HPCAhippocalcin	Often (30–79%)	In 1 condition
HTThuntingtin	Often (30–79%)	In 1 condition
HYLS1HYLS1 centriolar and ciliogenesis associated	Often (30–79%)	In 1 condition
IBA57iron-sulfur cluster assembly factor IBA57	Often (30–79%)	In 1 condition
IFIH1interferon induced with helicase C domain 1	Often (30–79%)	In 1 condition
IFNGR1interferon gamma receptor 1	Often (30–79%)	In 1 condition
IFT74intraflagellar transport 74	Often (30–79%)	In 1 condition
IL10interleukin 10	Often (30–79%)	In 1 condition
IL12Ainterleukin 12A	Often (30–79%)	In 1 condition
IL12A-AS1IL12A antisense RNA 1	Often (30–79%)	In 1 condition
IL23Rinterleukin 23 receptor	Often (30–79%)	In 1 condition
INPP5Einositol polyphosphate-5-phosphatase E	Often (30–79%)	In 3 conditions
KATNIPkatanin interacting protein	Often (30–79%)	In 1 condition
KBTBD13kelch repeat and BTB domain containing 13	Often (30–79%)	In 2 conditions
KCNC3potassium voltage-gated channel subfamily C member 3	Often (30–79%)	In 1 condition
KIAA0586KIAA0586	Often (30–79%)	In 1 condition
KIAA0753KIAA0753	Often (30–79%)	In 2 conditions
KIF7kinesin family member 7	Often (30–79%)	In 1 condition
KLC2kinesin light chain 2	Often (30–79%)	In 1 condition
KLHL41kelch like family member 41	Often (30–79%)	In 4 conditions
KLHL9kelch like family member 9	Often (30–79%)	In 1 condition
KLRC4killer cell lectin like receptor C4	Often (30–79%)	In 1 condition
LMNB1lamin B1	Often (30–79%)	In 1 condition
LMOD3leiomodin 3	Often (30–79%)	In 2 conditions
LSM11LSM11, U7 small nuclear RNA associated	Often (30–79%)	In 1 condition
MATR3matrin 3	Often (30–79%)	In 1 condition
MECRmitochondrial trans-2-enoyl-CoA reductase	Often (30–79%)	In 2 conditions
MEFVMEFV innate immunity regulator, pyrin	Often (30–79%)	In 1 condition
MICU1mitochondrial calcium uptake 1	Often (30–79%)	In 2 conditions
MKS1MKS transition zone complex subunit 1	Often (30–79%)	In 2 conditions
MORC2MORC family CW-type zinc finger 2	Often (30–79%)	In 2 conditions
MPZmyelin protein zero	Often (30–79%)	In 1 condition
MSTO1misato mitochondrial distribution and morphology regulator 1	Often (30–79%)	In 2 conditions
MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6	Often (30–79%)	In 2 conditions
MT-CO1mitochondrially encoded cytochrome c oxidase I	Often (30–79%)	In 2 conditions
MT-CO2mitochondrially encoded cytochrome c oxidase II	Often (30–79%)	In 1 condition
MT-CO3mitochondrially encoded cytochrome c oxidase III	Often (30–79%)	In 2 conditions
MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1	Often (30–79%)	In 1 condition
MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4	Often (30–79%)	In 1 condition
MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5	Often (30–79%)	In 1 condition
MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6	Often (30–79%)	In 1 condition
MT-TFmitochondrially encoded tRNA-Phe (UUU/C)	Often (30–79%)	In 1 condition
MT-THmitochondrially encoded tRNA-His (CAU/C)	Often (30–79%)	In 1 condition
MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1	Often (30–79%)	In 1 condition
MT-TQmitochondrially encoded tRNA-Gln (CAA/G)	Often (30–79%)	In 1 condition
MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1	Often (30–79%)	In 1 condition
MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2	Often (30–79%)	In 1 condition
MT-TWmitochondrially encoded tRNA-Trp (UGA/G)	Often (30–79%)	In 1 condition
MTMR14myotubularin related protein 14	Often (30–79%)	In 1 condition
MTRFRmitochondrial translation release factor in rescue	Often (30–79%)	In 2 conditions
MYF6myogenic factor 6	Often (30–79%)	In 1 condition
MYH7myosin heavy chain 7	Often (30–79%)	In 3 conditions
MYPNmyopalladin	Often (30–79%)	In 1 condition
NAXDNAD(P)HX dehydratase	Often (30–79%)	In 1 condition
NAXENAD(P)HX epimerase	Often (30–79%)	In 1 condition
NEBnebulin	Often (30–79%)	In 5 conditions
NHLRC1NHL repeat containing E3 ubiquitin protein ligase 1	Often (30–79%)	In 2 conditions
NIT1nitrilase 1	Often (30–79%)	In 1 condition
NKX3-2NK3 homeobox 2	Often (30–79%)	In 1 condition
NKX6-2NK6 homeobox 2	Often (30–79%)	In 1 condition
NOP56NOP56 ribonucleoprotein	Often (30–79%)	In 1 condition
NPHP1nephrocystin 1	Often (30–79%)	In 1 condition
NTRK1neurotrophic receptor tyrosine kinase 1	Often (30–79%)	In 1 condition
NUP54nucleoporin 54	Often (30–79%)	In 1 condition
NUP62nucleoporin 62	Often (30–79%)	In 1 condition
OFD1OFD1 centriole and centriolar satellite protein	Often (30–79%)	In 2 conditions
P4HTMprolyl 4-hydroxylase, transmembrane	Often (30–79%)	In 1 condition
PDE6Dphosphodiesterase 6D	Often (30–79%)	In 2 conditions
PEX6peroxisomal biogenesis factor 6	Often (30–79%)	In 2 conditions
PGAP1post-GPI attachment to proteins inositol deacylase 1	Often (30–79%)	In 1 condition
PI4KAphosphatidylinositol 4-kinase alpha	Often (30–79%)	In 1 condition
PIBF1progesterone immunomodulatory binding factor 1	Often (30–79%)	In 1 condition
PKP1plakophilin 1	Often (30–79%)	In 1 condition
PLEKHG4pleckstrin homology and RhoGEF domain containing G4	Often (30–79%)	In 1 condition
PLP1proteolipid protein 1	Often (30–79%)	In 4 conditions
PNPLA2patatin like domain 2, triacylglycerol lipase	Often (30–79%)	In 2 conditions
POLGDNA polymerase gamma, catalytic subunit	Often (30–79%)	In 2 conditions
PRNPprion protein (Kanno blood group)	Often (30–79%)	In 1 condition
PSAPprosaposin	Often (30–79%)	In 1 condition
PUS3pseudouridine synthase 3	Often (30–79%)	In 1 condition
RAI1retinoic acid induced 1	Often (30–79%)	In 1 condition
RANBP2RAN binding protein 2	Often (30–79%)	In 1 condition
RARS1arginyl-tRNA synthetase 1	Often (30–79%)	In 1 condition
REEP1receptor accessory protein 1	Often (30–79%)	In 1 condition
REEP2receptor accessory protein 2	Often (30–79%)	In 1 condition
RNASEH2Aribonuclease H2 subunit A	Often (30–79%)	In 1 condition
RNASEH2Bribonuclease H2 subunit B	Often (30–79%)	In 1 condition
RNASEH2Cribonuclease H2 subunit C	Often (30–79%)	In 1 condition
RNF170ring finger protein 170	Often (30–79%)	In 1 condition
RNU12RNA, U12 small nuclear	Often (30–79%)	In 1 condition
RNU7-1RNA, U7 small nuclear 1	Often (30–79%)	In 1 condition
RPGRIP1LRPGRIP1 like	Often (30–79%)	In 2 conditions
RPS6KA3ribosomal protein S6 kinase A3	Often (30–79%)	In 1 condition
RYR1ryanodine receptor 1	Often (30–79%)	In 2 conditions
SACSsacsin molecular chaperone	Often (30–79%)	In 1 condition
SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	Often (30–79%)	In 1 condition
SDHAsuccinate dehydrogenase complex flavoprotein subunit A	Often (30–79%)	In 1 condition
SGCBsarcoglycan beta	Often (30–79%)	In 1 condition
SIGMAR1sigma receptor chaperone 1	Often (30–79%)	In 1 condition
SLC2A3solute carrier family 2 member 3	Often (30–79%)	In 1 condition
SLC30A10solute carrier family 30 member 10	Often (30–79%)	In 1 condition
SLC39A14solute carrier family 39 member 14	Often (30–79%)	In 1 condition
SLC6A5solute carrier family 6 member 5	Often (30–79%)	In 1 condition
SLC9A6solute carrier family 9 member A6	Often (30–79%)	In 1 condition
SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1	Often (30–79%)	In 1 condition
SORDsorbitol dehydrogenase	Often (30–79%)	In 2 conditions
SPG11SPG11 vesicle trafficking associated, spatacsin	Often (30–79%)	In 3 conditions
SPTLC2serine palmitoyltransferase long chain base subunit 2	Often (30–79%)	In 1 condition
SQSTM1sequestosome 1	Often (30–79%)	In 3 conditions
STAT4signal transducer and activator of transcription 4	Often (30–79%)	In 1 condition
STUB1STIP1 homology and U-box containing protein 1	Often (30–79%)	In 1 condition
SUFUSUFU negative regulator of hedgehog signaling	Often (30–79%)	In 2 conditions
SYNE2spectrin repeat containing nuclear envelope protein 2	Often (30–79%)	In 1 condition
SYNGAP1synaptic Ras GTPase activating protein 1	Often (30–79%)	In 2 conditions
SYNJ1synaptojanin 1	Often (30–79%)	In 2 conditions
TAF1TATA-box binding protein associated factor 1	Often (30–79%)	In 2 conditions
TARDBPTAR DNA binding protein	Often (30–79%)	In 1 condition
TCTN1tectonic family member 1	Often (30–79%)	In 1 condition
TCTN3tectonic family member 3	Often (30–79%)	In 2 conditions
TEFMtranscription elongation factor, mitochondrial	Often (30–79%)	In 1 condition
TGM6transglutaminase 6	Often (30–79%)	In 2 conditions
THOC2THO complex subunit 2	Often (30–79%)	In 2 conditions
TIA1TIA1 cytotoxic granule associated RNA binding protein	Often (30–79%)	In 1 condition
TLR4toll like receptor 4	Often (30–79%)	In 1 condition
TMEM216transmembrane protein 216	Often (30–79%)	In 1 condition
TMEM218transmembrane protein 218	Often (30–79%)	In 1 condition
TMEM231transmembrane protein 231	Often (30–79%)	In 1 condition
TMEM237transmembrane protein 237	Often (30–79%)	In 2 conditions
TMEM43transmembrane protein 43	Often (30–79%)	In 1 condition
TMEM67transmembrane protein 67	Often (30–79%)	In 2 conditions
TOGARAM1TOG array regulator of axonemal microtubules 1	Often (30–79%)	In 1 condition
TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase	Often (30–79%)	In 1 condition
TPK1thiamin pyrophosphokinase 1	Often (30–79%)	In 1 condition
TPM3tropomyosin 3	Often (30–79%)	In 2 conditions
TPP1tripeptidyl peptidase 1	Often (30–79%)	In 1 condition
TRAPPC11trafficking protein particle complex subunit 11	Often (30–79%)	In 3 conditions
TREX1three prime repair exonuclease 1	Often (30–79%)	In 1 condition
TRMT2BtRNA methyltransferase 2B	Often (30–79%)	In 1 condition
TTNtitin	Often (30–79%)	In 3 conditions
TUBB4Atubulin beta 4A class IVa	Often (30–79%)	In 1 condition
UBAC2UBA domain containing 2	Often (30–79%)	In 1 condition
UBQLN2ubiquilin 2	Often (30–79%)	In 1 condition
USP7ubiquitin specific peptidase 7	Often (30–79%)	In 1 condition
VAMP1vesicle associated membrane protein 1	Often (30–79%)	In 2 conditions
VDRvitamin D receptor	Often (30–79%)	In 2 conditions
WARS2tryptophanyl tRNA synthetase 2, mitochondrial	Often (30–79%)	In 1 condition
WDR48WD repeat domain 48	Often (30–79%)	In 1 condition
WNT1Wnt family member 1	Often (30–79%)	In 1 condition
WNT3AWnt family member 3A	Often (30–79%)	In 1 condition
ZFYVE26zinc finger FYVE-type containing 26	Often (30–79%)	In 1 condition
ABCD1ATP binding cassette subfamily D member 1	Sometimes (5–29%)	In 1 condition
ABCD3ATP binding cassette subfamily D member 3	Sometimes (5–29%)	In 1 condition
ACTL6Bactin like 6B	Sometimes (5–29%)	In 1 condition
AKT1AKT serine/threonine kinase 1	Sometimes (5–29%)	In 1 condition
ALADaminolevulinate dehydratase	Sometimes (5–29%)	In 1 condition
ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit	Sometimes (5–29%)	In 2 conditions
ALG2ALG2 alpha-1,3/1,6-mannosyltransferase	Sometimes (5–29%)	In 1 condition
ANOS1anosmin 1	Sometimes (5–29%)	In 1 condition
AP3B2adaptor related protein complex 3 subunit beta 2	Sometimes (5–29%)	In 1 condition
ATP1A2ATPase Na+/K+ transporting subunit alpha 2	Sometimes (5–29%)	In 1 condition
ATP1A3ATPase Na+/K+ transporting subunit alpha 3	Sometimes (5–29%)	In 1 condition
ATP6V1AATPase H+ transporting V1 subunit A	Sometimes (5–29%)	In 2 conditions
BAP1BRCA1 associated deubiquitinase 1	Sometimes (5–29%)	In 1 condition
BCL11ABCL11 transcription factor A	Sometimes (5–29%)	In 1 condition
BMPR1Abone morphogenetic protein receptor type 1A	Sometimes (5–29%)	In 1 condition
BRCA2BRCA2 DNA repair associated	Sometimes (5–29%)	In 1 condition
CACNA1Acalcium voltage-gated channel subunit alpha1 A	Sometimes (5–29%)	In 1 condition
CACNA1Bcalcium voltage-gated channel subunit alpha1 B	Sometimes (5–29%)	In 1 condition
CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1	Sometimes (5–29%)	In 1 condition
CAPN1calpain 1	Sometimes (5–29%)	In 1 condition
CCDC141coiled-coil domain containing 141	Sometimes (5–29%)	In 1 condition
CDK19cyclin dependent kinase 19	Sometimes (5–29%)	In 1 condition
CELF2CUGBP Elav-like family member 2	Sometimes (5–29%)	In 1 condition
CHD7chromodomain helicase DNA binding protein 7	Sometimes (5–29%)	In 1 condition
CHEK2checkpoint kinase 2	Sometimes (5–29%)	In 1 condition
CHMP2Bcharged multivesicular body protein 2B	Sometimes (5–29%)	In 2 conditions
CLTCclathrin heavy chain	Sometimes (5–29%)	In 1 condition
CNKSR2connector enhancer of kinase suppressor of Ras 2	Sometimes (5–29%)	In 1 condition
CRYABcrystallin alpha B	Sometimes (5–29%)	In 1 condition
CTSCcathepsin C	Sometimes (5–29%)	In 1 condition
CYFIP2cytoplasmic FMR1 interacting protein 2	Sometimes (5–29%)	In 1 condition
DALRD3DALR anticodon binding domain containing 3	Sometimes (5–29%)	In 1 condition
DCCDCC netrin 1 receptor	Sometimes (5–29%)	In 1 condition
DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit	Sometimes (5–29%)	In 1 condition
DHDDSdehydrodolichyl diphosphate synthase subunit	Sometimes (5–29%)	In 1 condition
DNM1dynamin 1	Sometimes (5–29%)	In 2 conditions
DNM1Ldynamin 1L	Sometimes (5–29%)	In 2 conditions
DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	Sometimes (5–29%)	In 1 condition
DUSP6dual specificity phosphatase 6	Sometimes (5–29%)	In 1 condition
EEF1A2eukaryotic translation elongation factor 1 alpha 2	Sometimes (5–29%)	In 1 condition
EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3	Sometimes (5–29%)	In 1 condition
EMX2empty spiracles homeobox 2	Sometimes (5–29%)	In 1 condition
EPCAMepithelial cell adhesion molecule	Sometimes (5–29%)	In 1 condition
FBXO28F-box protein 28	Sometimes (5–29%)	In 1 condition
FEZF1FEZ family zinc finger 1	Sometimes (5–29%)	In 1 condition
FGF12fibroblast growth factor 12	Sometimes (5–29%)	In 2 conditions
FGF17fibroblast growth factor 17	Sometimes (5–29%)	In 1 condition
FGF8fibroblast growth factor 8	Sometimes (5–29%)	In 1 condition
FGFR1fibroblast growth factor receptor 1	Sometimes (5–29%)	In 1 condition
FLRT3fibronectin leucine rich transmembrane protein 3	Sometimes (5–29%)	In 1 condition
FOXG1forkhead box G1	Sometimes (5–29%)	In 1 condition
FZR1fizzy and cell division cycle 20 related 1	Sometimes (5–29%)	In 1 condition
GABRA2gamma-aminobutyric acid type A receptor subunit alpha2	Sometimes (5–29%)	In 1 condition
GABRA5gamma-aminobutyric acid type A receptor subunit alpha5	Sometimes (5–29%)	In 1 condition
GABRB2gamma-aminobutyric acid type A receptor subunit beta2	Sometimes (5–29%)	In 2 conditions
GABRG2gamma-aminobutyric acid type A receptor subunit gamma2	Sometimes (5–29%)	In 1 condition
GALTgalactose-1-phosphate uridylyltransferase	Sometimes (5–29%)	In 1 condition
GATMglycine amidinotransferase	Sometimes (5–29%)	In 1 condition
GFPT1glutamine--fructose-6-phosphate transaminase 1	Sometimes (5–29%)	In 1 condition
GIPC1GIPC PDZ domain containing family member 1	Sometimes (5–29%)	In 1 condition
GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D	Sometimes (5–29%)	In 1 condition
GRNgranulin precursor	Sometimes (5–29%)	In 1 condition
HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1	Sometimes (5–29%)	In 1 condition
HESX1HESX homeobox 1	Sometimes (5–29%)	In 1 condition
HNRNPH2heterogeneous nuclear ribonucleoprotein H2	Sometimes (5–29%)	In 1 condition
HS6ST1heparan sulfate 6-O-sulfotransferase 1	Sometimes (5–29%)	In 1 condition
IL17RDinterleukin 17 receptor D	Sometimes (5–29%)	In 1 condition
JARID2jumonji and AT-rich interaction domain containing 2	Sometimes (5–29%)	In 1 condition
JPH3junctophilin 3	Sometimes (5–29%)	In 1 condition
KCNA2potassium voltage-gated channel subfamily A member 2	Sometimes (5–29%)	In 1 condition
KCNB1potassium voltage-gated channel subfamily B member 1	Sometimes (5–29%)	In 1 condition
KCNC2potassium voltage-gated channel subfamily C member 2	Sometimes (5–29%)	In 1 condition
KCNH5potassium voltage-gated channel subfamily H member 5	Sometimes (5–29%)	In 1 condition
KCNJ10potassium inwardly rectifying channel subfamily J member 10	Sometimes (5–29%)	In 1 condition
KDM5Alysine demethylase 5A	Sometimes (5–29%)	In 1 condition
KLHL40kelch like family member 40	Sometimes (5–29%)	In 1 condition
KPNA3karyopherin subunit alpha 3	Sometimes (5–29%)	In 1 condition
KRASKRas proto-oncogene, GTPase	Sometimes (5–29%)	In 1 condition
LPIN1lipin 1	Sometimes (5–29%)	In 1 condition
LRP12LDL receptor related protein 12	Sometimes (5–29%)	In 3 conditions
LYSTlysosomal trafficking regulator	Sometimes (5–29%)	In 2 conditions
MAPTmicrotubule associated protein tau	Sometimes (5–29%)	In 1 condition
MATN3matrilin 3	Sometimes (5–29%)	In 1 condition
MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2	Sometimes (5–29%)	In 1 condition
MED25mediator complex subunit 25	Sometimes (5–29%)	In 1 condition
MICOS13mitochondrial contact site and cristae organizing system subunit 13	Sometimes (5–29%)	In 1 condition
MLH1mutL homolog 1	Sometimes (5–29%)	In 1 condition
MSH2mutS homolog 2	Sometimes (5–29%)	In 1 condition
MSH6mutS homolog 6	Sometimes (5–29%)	In 1 condition
MTORmechanistic target of rapamycin kinase	Sometimes (5–29%)	In 1 condition
MUTYHmutY DNA glycosylase	Sometimes (5–29%)	In 1 condition
MYH3myosin heavy chain 3	Sometimes (5–29%)	In 1 condition
NDNFneuron derived neurotrophic factor	Sometimes (5–29%)	In 1 condition
NECAP1NECAP endocytosis associated 1	Sometimes (5–29%)	In 1 condition
NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	Sometimes (5–29%)	In 1 condition
NOTCH2NLCnotch 2 N-terminal like C	Sometimes (5–29%)	In 2 conditions
NOTCH3notch receptor 3	Sometimes (5–29%)	In 2 conditions
NPATnuclear protein, coactivator of histone transcription	Sometimes (5–29%)	In 1 condition
NPR3natriuretic peptide receptor 3	Sometimes (5–29%)	In 1 condition
NTRK2neurotrophic receptor tyrosine kinase 2	Sometimes (5–29%)	In 1 condition
NUS1NUS1 dehydrodolichyl diphosphate synthase subunit	Sometimes (5–29%)	In 1 condition
NUTM2B-AS1NUTM2B antisense RNA 1	Sometimes (5–29%)	In 1 condition
OBSCNobscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	Sometimes (5–29%)	In 1 condition
OPA1OPA1 mitochondrial dynamin like GTPase	Sometimes (5–29%)	In 3 conditions
OPA3outer mitochondrial membrane lipid metabolism regulator OPA3	Sometimes (5–29%)	In 1 condition
PACS2phosphofurin acidic cluster sorting protein 2	Sometimes (5–29%)	In 1 condition
PARS2prolyl-tRNA synthetase 2, mitochondrial	Sometimes (5–29%)	In 1 condition
PDGFBplatelet derived growth factor subunit B	Sometimes (5–29%)	In 2 conditions
PGAP2post-GPI attachment to proteins 2	Sometimes (5–29%)	In 1 condition
PGAP3post-GPI attachment to proteins phospholipase 3	Sometimes (5–29%)	In 1 condition
PHIPPHIP subunit of CUL4-Ring ligase complex	Sometimes (5–29%)	In 1 condition
PHKA1phosphorylase kinase regulatory subunit alpha 1	Sometimes (5–29%)	In 1 condition
PHKG1phosphorylase kinase catalytic subunit gamma 1	Sometimes (5–29%)	In 1 condition
PIGLphosphatidylinositol glycan anchor biosynthesis class L	Sometimes (5–29%)	In 1 condition
PIGOphosphatidylinositol glycan anchor biosynthesis class O	Sometimes (5–29%)	In 1 condition
PIGVphosphatidylinositol glycan anchor biosynthesis class V	Sometimes (5–29%)	In 1 condition
PIGWphosphatidylinositol glycan anchor biosynthesis class W	Sometimes (5–29%)	In 1 condition
PIGYphosphatidylinositol glycan anchor biosynthesis class Y	Sometimes (5–29%)	In 1 condition
PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	Sometimes (5–29%)	In 3 conditions
PLA2G6phospholipase A2 group VI	Sometimes (5–29%)	In 1 condition
PMS1PMS1 homolog 1, mismatch repair system component	Sometimes (5–29%)	In 1 condition
PMS2PMS1 homolog 2, mismatch repair system component	Sometimes (5–29%)	In 1 condition
POLD1DNA polymerase delta 1, catalytic subunit	Sometimes (5–29%)	In 1 condition
POLEDNA polymerase epsilon, catalytic subunit	Sometimes (5–29%)	In 1 condition
PPIBpeptidylprolyl isomerase B	Sometimes (5–29%)	In 1 condition
PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta	Sometimes (5–29%)	In 1 condition
PPP3CAprotein phosphatase 3 catalytic subunit alpha	Sometimes (5–29%)	In 1 condition
PRDM5PR/SET domain 5	Sometimes (5–29%)	In 1 condition
PROK2prokineticin 2	Sometimes (5–29%)	In 1 condition
PROKR2prokineticin receptor 2	Sometimes (5–29%)	In 1 condition
PRPS1phosphoribosyl pyrophosphate synthetase 1	Sometimes (5–29%)	In 2 conditions
PSEN1presenilin 1	Sometimes (5–29%)	In 2 conditions
PYCR2pyrroline-5-carboxylate reductase 2	Sometimes (5–29%)	In 1 condition
RELREL proto-oncogene, NF-kB subunit	Sometimes (5–29%)	In 1 condition
RILPL1Rab interacting lysosomal protein like 1	Sometimes (5–29%)	In 1 condition
RNASEH1ribonuclease H1	Sometimes (5–29%)	In 1 condition
RNF125ring finger protein 125	Sometimes (5–29%)	In 1 condition
RNF168ring finger protein 168	Sometimes (5–29%)	In 1 condition
RPS20ribosomal protein S20	Sometimes (5–29%)	In 1 condition
RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B	Sometimes (5–29%)	In 1 condition
SCN1Asodium voltage-gated channel alpha subunit 1	Sometimes (5–29%)	In 1 condition
SCN3Asodium voltage-gated channel alpha subunit 3	Sometimes (5–29%)	In 1 condition
SCN8Asodium voltage-gated channel alpha subunit 8	Sometimes (5–29%)	In 1 condition
SEMA3Asemaphorin 3A	Sometimes (5–29%)	In 1 condition
SEMA4Asemaphorin 4A	Sometimes (5–29%)	In 1 condition
SETXsenataxin	Sometimes (5–29%)	In 2 conditions
SLC13A5solute carrier family 13 member 5	Sometimes (5–29%)	In 1 condition
SLC1A2solute carrier family 1 member 2	Sometimes (5–29%)	In 1 condition
SLC25A4solute carrier family 25 member 4	Sometimes (5–29%)	In 1 condition
SLC38A3solute carrier family 38 member 3	Sometimes (5–29%)	In 1 condition
SLC9A7solute carrier family 9 member A7	Sometimes (5–29%)	In 1 condition
SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1	Sometimes (5–29%)	In 1 condition
SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1	Sometimes (5–29%)	In 1 condition
SMOsmoothened, frizzled class receptor	Sometimes (5–29%)	In 1 condition
SNORD118small nucleolar RNA, C/D box 118	Sometimes (5–29%)	In 2 conditions
SOX10SRY-box transcription factor 10	Sometimes (5–29%)	In 1 condition
SPRY4sprouty RTK signaling antagonist 4	Sometimes (5–29%)	In 1 condition
SZT2SZT2 subunit of KICSTOR complex	Sometimes (5–29%)	In 1 condition
TACR3tachykinin receptor 3	Sometimes (5–29%)	In 1 condition
TERTtelomerase reverse transcriptase	Sometimes (5–29%)	In 1 condition
TGFBR2transforming growth factor beta receptor 2	Sometimes (5–29%)	In 1 condition
TMEM106Btransmembrane protein 106B	Sometimes (5–29%)	In 1 condition
TNNT1troponin T1, slow skeletal type	Sometimes (5–29%)	In 1 condition
TRAF7TNF receptor associated factor 7	Sometimes (5–29%)	In 1 condition
TRAK1trafficking kinesin protein 1	Sometimes (5–29%)	In 1 condition
TREM2triggering receptor expressed on myeloid cells 2	Sometimes (5–29%)	In 3 conditions
TRPV4transient receptor potential cation channel subfamily V member 4	Sometimes (5–29%)	In 1 condition
TWNKtwinkle mtDNA helicase	Sometimes (5–29%)	In 2 conditions
UBA5ubiquitin like modifier activating enzyme 5	Sometimes (5–29%)	In 1 condition
UFSP2UFM1 specific peptidase 2	Sometimes (5–29%)	In 1 condition
USP9Xubiquitin specific peptidase 9 X-linked	Sometimes (5–29%)	In 1 condition
WDR11WD repeat domain 11	Sometimes (5–29%)	In 1 condition
XPO1exportin 1	Sometimes (5–29%)	In 1 condition
YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma	Sometimes (5–29%)	In 1 condition
ZFTAzinc finger translocation associated	Sometimes (5–29%)	In 1 condition
ADAT3adenosine deaminase tRNA specific 3	Rarely (1–4%)	In 1 condition
LDB3LIM domain binding 3	Rarely (1–4%)	In 1 condition
POPDC1popeye domain cAMP effector 1	Rarely (1–4%)	In 1 condition
ACTN2actinin alpha 2	Not recorded	In 1 condition
APOEapolipoprotein E	Not recorded	In 1 condition
ATP5MC3ATP synthase membrane subunit c locus 3	Not recorded	In 1 condition
BSCL2BSCL2 lipid droplet biogenesis associated, seipin	Not recorded	In 1 condition
CCN6cellular communication network factor 6	Not recorded	In 1 condition
CDK8cyclin dependent kinase 8	Not recorded	In 1 condition
CFAP43cilia and flagella associated protein 43	Not recorded	In 1 condition
COL2A1collagen type II alpha 1 chain	Not recorded	In 1 condition
CUX2cut like homeobox 2	Not recorded	In 1 condition
DDHD1DDHD domain containing 1	Not recorded	In 1 condition
DHTKD1dehydrogenase E1 and transketolase domain containing 1	Not recorded	In 1 condition
DYNC1H1dynein cytoplasmic 1 heavy chain 1	Not recorded	In 1 condition
EEDembryonic ectoderm development	Not recorded	In 1 condition
EIF2B1eukaryotic translation initiation factor 2B subunit alpha	Not recorded	In 1 condition
EIF2S3eukaryotic translation initiation factor 2 subunit gamma	Not recorded	In 1 condition
FBXO38F-box protein 38	Not recorded	In 1 condition
FDX2ferredoxin 2	Not recorded	In 1 condition
FIG4FIG4 phosphoinositide 5-phosphatase	Not recorded	In 1 condition
FLNAfilamin A	Not recorded	In 1 condition
FOXRED1FAD dependent oxidoreductase domain containing 1	Not recorded	In 1 condition
FRRS1Lferric chelate reductase 1 like	Not recorded	In 1 condition
GLE1GLE1 RNA export mediator	Not recorded	In 1 condition
GLRX5glutaredoxin 5	Not recorded	In 1 condition
GOSR2golgi SNAP receptor complex member 2	Not recorded	In 1 condition
GYG1glycogenin 1	Not recorded	In 1 condition
HSPB1heat shock protein family B (small) member 1	Not recorded	In 1 condition
HSPB3heat shock protein family B (small) member 3	Not recorded	In 1 condition
IGHMBP2immunoglobulin mu DNA binding protein 2	Not recorded	In 1 condition
INPP5Kinositol polyphosphate-5-phosphatase K	Not recorded	In 1 condition
JAM2junctional adhesion molecule 2	Not recorded	In 1 condition
KMT2Blysine methyltransferase 2B	Not recorded	In 1 condition
MARCHF6membrane associated ring-CH-type finger 6	Not recorded	In 1 condition
MTR5-methyltetrahydrofolate-homocysteine methyltransferase	Not recorded	In 1 condition
MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase	Not recorded	In 1 condition
MYORGmyogenesis regulating glycosidase	Not recorded	In 1 condition
NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit	Not recorded	In 1 condition
NACC1nucleus accumbens associated 1	Not recorded	In 1 condition
NDRG1N-myc downstream regulated 1	Not recorded	In 1 condition
NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6	Not recorded	In 1 condition
NDUFS8NADH:ubiquinone oxidoreductase core subunit S8	Not recorded	In 1 condition
NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial	Not recorded	In 1 condition
ORAI1ORAI calcium release-activated calcium modulator 1	Not recorded	In 1 condition
PDGFRBplatelet derived growth factor receptor beta	Not recorded	In 1 condition
PLEKHG5pleckstrin homology and RhoGEF domain containing G5	Not recorded	In 1 condition
PMP2peripheral myelin protein 2	Not recorded	In 1 condition
PNPLA6patatin like domain 6, lysophospholipase	Not recorded	In 1 condition
PRKRAprotein activator of interferon induced protein kinase EIF2AK2	Not recorded	In 1 condition
PRXperiaxin	Not recorded	In 1 condition
SBF1SET binding factor 1	Not recorded	In 1 condition
SLC18A3solute carrier family 18 member A3	Not recorded	In 1 condition
SLC20A2solute carrier family 20 member 2	Not recorded	In 1 condition
SLC30A9solute carrier family 30 member 9	Not recorded	In 1 condition
SLC34A3solute carrier family 34 member 3	Not recorded	In 1 condition
SLC5A7solute carrier family 5 member 7	Not recorded	In 1 condition
SLC6A8solute carrier family 6 member 8	Not recorded	In 1 condition
SNCAsynuclein alpha	Not recorded	In 1 condition
SPARTspartin	Not recorded	In 1 condition
STRADASTE20 related adaptor alpha	Not recorded	In 1 condition
SURF1SURF1 cytochrome c oxidase assembly factor	Not recorded	In 1 condition
TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase	Not recorded	In 1 condition
TANGO2transport and golgi organization 2 homolog	Not recorded	In 1 condition
TBC1D23TBC1 domain family member 23	Not recorded	In 1 condition
TCAPtitin-cap	Not recorded	In 1 condition
TFGtrafficking from ER to golgi regulator	Not recorded	In 1 condition
TYROBPtransmembrane immune signaling adaptor TYROBP	Not recorded	In 1 condition
VPS37AVPS37A subunit of ESCRT-I	Not recorded	In 1 condition
WARS1tryptophanyl-tRNA synthetase 1	Not recorded	In 1 condition
XPR1xenotropic and polytropic retrovirus receptor 1	Not recorded	In 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Broader traits

Abnormality of movement

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
Data release 2026.10.19-9814e911.

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