Spasticity - Ontology Report - Rat Genome Database

OMIM:616339 OMIM:619691 ORPHA:33364 ORPHA:442835

NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707

AARS2

alanyl-tRNA synthetase 2, mitochondrial

OMIM:615889

NCBI chr 6:44,298,731...44,313,347
Ensembl chr 6:44,298,731...44,313,347

ABCC8

ATP binding cassette subfamily C member 8

OMIM:240800

NCBI chr11:17,392,498...17,476,845
Ensembl chr11:17,392,498...17,476,894

ATP binding cassette subfamily D member 1

ORPHA:139399

NCBI chr X:153,724,856...153,744,755
Ensembl chr X:153,724,856...153,744,755

ABHD12

abhydrolase domain containing 12, lysophospholipase

OMIM:612674

NCBI chr20:25,294,743...25,390,835
Ensembl chr20:25,294,742...25,390,835

ACAT1

acetyl-CoA acetyltransferase 1

ORPHA:134

NCBI chr11:108,116,705...108,147,603
Ensembl chr11:108,116,695...108,147,603

ACP5

acid phosphatase 5, tartrate resistant

OMIM:607944 ORPHA:1855

NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993

actin like 6B

NCBI chr 7:100,643,097...100,656,448
Ensembl chr 7:100,643,097...100,656,448

ADAM22

ADAM metallopeptidase domain 22

OMIM:617933

NCBI chr 7:87,934,251...88,202,889
Ensembl chr 7:87,934,143...88,202,889

adenosine deaminase RNA specific

ORPHA:225154 ORPHA:51

NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013

ADARB1

adenosine deaminase RNA specific B1

OMIM:618862

NCBI chr21:45,074,578...45,226,563
Ensembl chr21:45,073,853...45,226,560

ADAT3

adenosine deaminase tRNA specific 3

OMIM:615286 ORPHA:363528

NCBI chr19:1,905,399...1,913,447
Ensembl chr19:1,905,399...1,913,447

adducin 3

NCBI chr10:109,996,373...110,135,565
Ensembl chr10:109,996,368...110,135,565

ADGRG1

adhesion G protein-coupled receptor G1

NCBI chr16:57,619,738...57,665,567
Ensembl chr16:57,610,652...57,665,580

ADSL

adenylosuccinate lyase

OMIM:103050

NCBI chr22:40,346,500...40,387,527
Ensembl chr22:40,346,461...40,390,463

AFG2A

AFG2 AAA ATPase homolog A

OMIM:616577 ORPHA:457351

NCBI chr 4:122,923,078...123,319,433
Ensembl chr 4:122,923,070...123,319,433

AFG2B

AFG2 AAA ATPase homolog B

OMIM:619616

NCBI chr15:45,402,336...45,421,415
Ensembl chr15:45,402,336...45,421,415

AFG3L2

AFG3 like matrix AAA peptidase subunit 2

OMIM:610246 OMIM:614487 ORPHA:101109 ORPHA:313772

NCBI chr18:12,328,944...12,377,227
Ensembl chr18:12,328,944...12,377,227

AGA

aspartylglucosaminidase

OMIM:208400

NCBI chr 4:177,430,774...177,442,437
Ensembl chr 4:177,430,774...177,442,437

AGTPBP1

ATP/GTP binding carboxypeptidase 1

OMIM:618276 ORPHA:2254

NCBI chr 9:85,546,539...85,805,483
Ensembl chr 9:85,546,539...85,742,029

aldehyde dehydrogenase 18 family member A1

OMIM:616586 ORPHA:447760

NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711

ALDH3A2

aldehyde dehydrogenase 3 family member A2

OMIM:270200 ORPHA:816

NCBI chr17:19,648,136...19,677,596
Ensembl chr17:19,648,136...19,685,760

alsin Rho guanine nucleotide exchange factor ALS2

OMIM:205100 ORPHA:247604 ORPHA:293168

NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112

AMACR

alpha-methylacyl-CoA racemase

OMIM:614307

NCBI chr 5:33,986,165...34,008,050
Ensembl chr 5:33,986,165...34,008,104

AMPD2

adenosine monophosphate deaminase 2

OMIM:615809 ORPHA:401805

NCBI chr 1:109,619,837...109,632,055
Ensembl chr 1:109,616,104...109,632,051

ANG

angiogenin

OMIM:611895 ORPHA:803

NCBI chr14:20,684,177...20,694,186
Ensembl chr14:20,684,177...20,698,971

ANK3

ankyrin 3

OMIM:615493 ORPHA:356996

NCBI chr10:60,026,298...60,733,528
Ensembl chr10:60,026,298...60,733,490

ANKLE2

ankyrin repeat and LEM domain containing 2

OMIM:616681

NCBI chr12:132,725,503...132,761,832
Ensembl chr12:132,725,503...132,761,832

annexin A11

NCBI chr10:80,150,889...80,205,808
Ensembl chr10:80,150,889...80,205,572

AP1G1

adaptor related protein complex 1 subunit gamma 1

OMIM:619467 OMIM:619548

NCBI chr16:71,729,000...71,808,834
Ensembl chr16:71,729,000...71,809,201

AP1S2

adaptor related protein complex 1 subunit sigma 2

OMIM:304340

NCBI chr X:15,825,806...15,854,813
Ensembl chr X:15,825,806...15,854,931

AP3B2

adaptor related protein complex 3 subunit beta 2

NCBI chr15:82,659,281...82,709,875
Ensembl chr15:82,659,281...82,710,112

adaptor related protein complex 4 subunit beta 1

OMIM:614066 ORPHA:280763

NCBI chr 1:113,894,194...113,905,028
Ensembl chr 1:113,894,194...113,905,712

adaptor related protein complex 4 subunit epsilon 1

OMIM:613744 ORPHA:280763

NCBI chr15:50,907,492...51,005,895
Ensembl chr15:50,908,672...51,005,895

adaptor related protein complex 4 subunit mu 1

NCBI chr 7:100,100,794...100,109,039
Ensembl chr 7:100,100,858...100,110,345

adaptor related protein complex 4 subunit sigma 1

OMIM:614067 ORPHA:280763

NCBI chr14:31,025,106...31,096,450
Ensembl chr14:31,025,106...31,130,996

aquaporin 4

NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771

ARF1

ADP ribosylation factor 1

OMIM:618185

NCBI chr 1:228,082,708...228,099,212
Ensembl chr 1:228,082,708...228,099,212

ARL6

ADP ribosylation factor like GTPase 6

NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229

ARL6IP1

ADP ribosylation factor like GTPase 6 interacting protein 1

OMIM:615685 ORPHA:401780

NCBI chr16:18,791,667...18,801,549
Ensembl chr16:18,791,669...18,801,572

ARNT2

aryl hydrocarbon receptor nuclear translocator 2

OMIM:615926

NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933

ARPC5

actin related protein 2/3 complex subunit 5

OMIM:620565

NCBI chr 1:183,620,846...183,635,783
Ensembl chr 1:183,620,846...183,635,783

ARSA

arylsulfatase A

ORPHA:309256 ORPHA:309263 ORPHA:309271

NCBI chr22:50,622,754...50,628,152
Ensembl chr22:50,622,754...50,628,173

ARV1

ARV1 homolog, fatty acid homeostasis modulator

NCBI chr 1:230,979,094...231,000,733
Ensembl chr 1:230,978,981...231,000,733

aristaless related homeobox

OMIM:300215 ORPHA:1934 ORPHA:2508 ORPHA:3175 ORPHA:452

NCBI chr X:25,003,694...25,015,965
Ensembl chr X:25,003,694...25,016,420

ASAH1

N-acylsphingosine amidohydrolase 1

ORPHA:333

NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998

aspartoacylase

NCBI chr17:3,474,110...3,503,405
Ensembl chr17:3,472,374...3,503,405

ATAD1

ATPase family AAA domain containing 1

NCBI chr10:87,751,512...87,841,361
Ensembl chr10:87,751,512...87,841,361

ATAD3A

ATPase family AAA domain containing 3A

OMIM:617183 OMIM:618810 ORPHA:496790

NCBI chr 1:1,512,162...1,534,685
Ensembl chr 1:1,512,162...1,534,685

ATM

ATM serine/threonine kinase

ORPHA:100

NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102

ATPase cation transporting 13A2

OMIM:606693

NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928

ATP1A2

ATPase Na+/K+ transporting subunit alpha 2

NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591

ATP1A3

ATPase Na+/K+ transporting subunit alpha 3

NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497

ATP6AP2

ATPase H+ transporting accessory protein 2

OMIM:300423 OMIM:300911 ORPHA:363654

NCBI chr X:40,580,970...40,606,848
Ensembl chr X:40,579,372...40,606,848

ATP6V0A2

ATPase H+ transporting V0 subunit a2

ORPHA:357074

NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,353...123,761,755

ATP6V1A

ATPase H+ transporting V1 subunit A

ORPHA:357074 ORPHA:442835

NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056

ATP6V1E1

ATPase H+ transporting V1 subunit E1

ORPHA:357074

NCBI chr22:17,592,136...17,628,822
Ensembl chr22:17,592,136...17,628,749

ATP7A

ATPase copper transporting alpha

ORPHA:565

NCBI chr X:77,910,693...78,050,395
Ensembl chr X:77,910,690...78,050,395

ATRX

ATRX chromatin remodeler

OMIM:301040

NCBI chr X:77,504,880...77,786,216
Ensembl chr X:77,504,880...77,786,233

ataxin 1

NCBI chr 6:16,299,112...16,761,460
Ensembl chr 6:16,299,112...16,761,491

ATXN2

ataxin 2

OMIM:183090 ORPHA:803

NCBI chr12:111,452,214...111,599,673
Ensembl chr12:111,443,485...111,599,676

ATXN3

ataxin 3

OMIM:109150 ORPHA:276238 ORPHA:276241 ORPHA:276244

NCBI chr14:92,044,775...92,106,582
Ensembl chr14:92,044,496...92,106,621

ataxin 7

NCBI chr 3:63,863,144...64,003,462
Ensembl chr 3:63,863,155...64,003,462

ATXN8

ataxin 8

OMIM:608768 ORPHA:98760

ATXN8OS

ATXN8 opposite strand lncRNA

OMIM:608768 ORPHA:98760

NCBI chr13:70,107,421...70,171,738
Ensembl chr13:70,107,213...70,171,738

AUH

AU RNA binding methylglutaconyl-CoA hydratase

OMIM:250950

NCBI chr 9:91,213,823...91,361,918
Ensembl chr 9:91,213,815...91,361,918

AUTS2

activator of transcription and developmental regulator AUTS2

ORPHA:352490

NCBI chr 7:69,598,475...70,793,506
Ensembl chr 7:69,598,296...70,793,506

B4GAT1

beta-1,4-glucuronyltransferase 1

OMIM:615287

NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,629

BAZ1B

bromodomain adjacent to zinc finger domain 1B

NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293

BBIP1

BBSome interacting protein 1

NCBI chr10:110,898,730...110,919,366
Ensembl chr10:110,898,730...110,919,201

BBS1

Bardet-Biedl syndrome 1

NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613

BBS10

Bardet-Biedl syndrome 10

NCBI chr12:76,344,474...76,348,415
Ensembl chr12:76,344,474...76,348,415

BBS12

Bardet-Biedl syndrome 12

NCBI chr 4:122,700,442...122,744,939
Ensembl chr 4:122,732,702...122,744,942

BBS2

Bardet-Biedl syndrome 2

NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667

BBS4

Bardet-Biedl syndrome 4

NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,179...72,738,475

BBS5

Bardet-Biedl syndrome 5

NCBI chr 2:169,479,494...169,506,655
Ensembl chr 2:169,479,480...169,506,655

BBS7

Bardet-Biedl syndrome 7

NCBI chr 4:121,824,329...121,870,474
Ensembl chr 4:121,824,329...121,870,487

BBS9

Bardet-Biedl syndrome 9

NCBI chr 7:33,129,285...33,635,767
Ensembl chr 7:33,109,557...33,877,180

BCAS3

BCAS3 microtubule associated cell migration factor

OMIM:619641

NCBI chr17:60,677,851...61,392,831
Ensembl chr17:60,677,453...61,392,838

BCL11B

BCL11 transcription factor B

OMIM:618092

NCBI chr14:99,169,287...99,272,197
Ensembl chr14:99,169,287...99,272,197

BCL7B

BAF chromatin remodeling complex subunit BCL7B

NCBI chr 7:73,536,356...73,557,690
Ensembl chr 7:73,536,356...73,557,690

BCS1L

BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone

OMIM:124000

NCBI chr 2:218,658,743...218,663,443
Ensembl chr 2:218,658,764...218,663,443

BEAN1

brain expressed associated with NEDD4 1

ORPHA:217012

NCBI chr16:66,427,295...66,495,288
Ensembl chr16:66,427,295...66,493,529

bolA family member 3

NCBI chr 2:74,135,400...74,147,912
Ensembl chr 2:74,135,400...74,147,912

BSCL2 lipid droplet biogenesis associated, seipin

OMIM:615924 ORPHA:363400

NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845

BUD23

BUD23 rRNA methyltransferase and ribosome maturation factor

NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212

C19orf12

chromosome 19 open reading frame 12

OMIM:614298 OMIM:615043

NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789

C2orf69

chromosome 2 open reading frame 69

OMIM:619423

NCBI chr 2:199,911,293...199,928,273
Ensembl chr 2:199,911,293...199,955,935

CACNA1A

calcium voltage-gated channel subunit alpha1 A

ClinVar Annotator: match by term: Spasticity

NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489

CACNA1B

calcium voltage-gated channel subunit alpha1 B

NCBI chr 9:137,877,782...138,124,619
Ensembl chr 9:137,877,782...138,124,624

CACNA1D

calcium voltage-gated channel subunit alpha1 D

OMIM:615474

NCBI chr 3:53,494,611...53,813,733
Ensembl chr 3:53,328,963...53,813,733

CACNA1G

calcium voltage-gated channel subunit alpha1 G

OMIM:618087

NCBI chr17:50,560,715...50,627,474
Ensembl chr17:50,560,715...50,627,474

CACNA2D1

calcium voltage-gated channel auxiliary subunit alpha2delta 1

OMIM:620149 ORPHA:442835

NCBI chr 7:81,946,444...82,443,956
Ensembl chr 7:81,946,444...82,443,956

CAMK2A

calcium/calmodulin dependent protein kinase II alpha

OMIM:618095

NCBI chr 5:150,219,491...150,290,130
Ensembl chr 5:150,219,491...150,290,093

CARS1

cysteinyl-tRNA synthetase 1

NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613

CASK

calcium/calmodulin dependent serine protein kinase

OMIM:300749 ORPHA:163937 ORPHA:1934

NCBI chr X:41,514,934...41,923,554
Ensembl chr X:41,514,934...41,923,554

cyclin F

NCBI chr16:2,429,447...2,458,854
Ensembl chr16:2,429,394...2,458,854

chaperonin containing TCP1 subunit 5

ORPHA:139578

NCBI chr 5:10,249,921...10,266,412
Ensembl chr 5:10,249,929...10,266,389

CDK19

cyclin dependent kinase 19

NCBI chr 6:110,609,978...110,815,855
Ensembl chr 6:110,609,978...110,815,958

CDKL5

cyclin dependent kinase like 5

ORPHA:1934 ORPHA:3095

NCBI chr X:18,425,608...18,653,629
Ensembl chr X:18,425,583...18,653,629

CDON

cell adhesion associated, oncogene regulated

NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335

CELF2

CUGBP Elav-like family member 2

NCBI chr10:10,462,550...11,336,675
Ensembl chr10:10,798,397...11,336,675

CEP19

centrosomal protein 19

NCBI chr 3:196,706,277...196,712,250
Ensembl chr 3:196,706,277...196,712,250

CEP290

centrosomal protein 290

NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099

CEP85L

centrosomal protein 85 like

ORPHA:572013

NCBI chr 6:118,460,772...118,710,089
Ensembl chr 6:118,460,772...118,710,075

CFAP410

cilia and flagella associated protein 410

NCBI chr21:44,328,944...44,339,390
Ensembl chr21:44,328,944...44,339,402

CFAP418

cilia and flagella associated protein 418

NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201

CHCHD10

coiled-coil-helix-coiled-coil-helix domain containing 10

NCBI chr22:23,765,834...23,767,972
Ensembl chr22:23,765,834...23,767,972

CHMP1A

charged multivesicular body protein 1A

OMIM:614961

NCBI chr16:89,644,435...89,657,708
Ensembl chr16:89,640,816...89,657,738

CHMP2B

charged multivesicular body protein 2B

NCBI chr 3:87,227,309...87,255,556
Ensembl chr 3:87,227,271...87,255,556

CHP1

calcineurin like EF-hand protein 1

OMIM:618438

NCBI chr15:41,231,268...41,281,887
Ensembl chr15:41,230,839...41,281,887

CIT

citron rho-interacting serine/threonine kinase

OMIM:617090

NCBI chr12:119,685,791...119,877,320
Ensembl chr12:119,685,791...119,877,320

CKAP2L

cytoskeleton associated protein 2 like

ORPHA:3255

NCBI chr 2:112,736,349...112,764,609
Ensembl chr 2:112,736,349...112,764,664

CLCN3

chloride voltage-gated channel 3

OMIM:619517

NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,633...169,723,673

CLIP2

CAP-Gly domain containing linker protein 2

NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935

CLN5

CLN5 intracellular trafficking protein

NCBI chr13:76,992,081...77,005,117
Ensembl chr13:76,990,660...77,019,143

CLN6

CLN6 transmembrane ER protein

ORPHA:168491 ORPHA:79262

NCBI chr15:68,206,992...68,257,211
Ensembl chr15:68,206,992...68,257,211

CLN8

CLN8 transmembrane ER and ERGIC protein

ORPHA:168491

NCBI chr 8:1,753,059...1,786,570
Ensembl chr 8:1,755,778...1,801,711

CLP1

cleavage factor polyribonucleotide kinase subunit 1

OMIM:615803 ORPHA:411493

NCBI chr11:57,657,762...57,661,865
Ensembl chr11:57,648,188...57,661,865

CLPB

ClpB family mitochondrial disaggregase

OMIM:616271 ORPHA:445038

NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680

CLTC

clathrin heavy chain

OMIM:617854 ORPHA:442835

NCBI chr17:59,619,895...59,696,956
Ensembl chr17:59,619,680...59,696,956

CNKSR2

connector enhancer of kinase suppressor of Ras 2

NCBI chr X:21,374,418...21,654,689
Ensembl chr X:21,372,801...21,654,695

CNOT1

CCR4-NOT transcription complex subunit 1

OMIM:618500

NCBI chr16:58,519,951...58,629,826
Ensembl chr16:58,519,951...58,629,885

CNTNAP1

contactin associated protein 1

OMIM:618186

NCBI chr17:42,682,531...42,699,993
Ensembl chr17:42,682,531...42,699,993

CNTNAP2

contactin associated protein 2

OMIM:610042

NCBI chr 7:146,116,801...148,420,998
Ensembl chr 7:146,116,002...148,420,998

COG3

component of oligomeric golgi complex 3

OMIM:620546

NCBI chr13:45,464,939...45,536,701
Ensembl chr13:45,464,898...45,536,701

COL4A1

collagen type IV alpha 1 chain

OMIM:175780

NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202

COL6A2

collagen type VI alpha 2 chain

ClinVar Annotator: match by term: Spasticity

PMID:25741868 PMID:28492532 PMID:30755392

NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848

COPB1

COPI coat complex subunit beta 1

OMIM:619255

NCBI chr11:14,457,512...14,499,811
Ensembl chr11:14,443,440...14,500,027

COPB2

COPI coat complex subunit beta 2

OMIM:617800 OMIM:619884

NCBI chr 3:139,357,406...139,389,680
Ensembl chr 3:139,353,946...139,389,736

COX8A

cytochrome c oxidase subunit 8A

OMIM:619059

NCBI chr11:63,974,620...63,976,543
Ensembl chr11:63,974,620...63,976,543

CPSF3

cleavage and polyadenylation specific factor 3

OMIM:619876

NCBI chr 2:9,423,654...9,473,101
Ensembl chr 2:9,423,651...9,473,101

CRIPTO

cripto, EGF-CFC family member

NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457

CSF1R

colony stimulating factor 1 receptor

OMIM:221820 OMIM:618476

NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372

CTC1

CST telomere replication complex component 1

OMIM:612199

NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058

CTNNB1

catenin beta 1

OMIM:615075 ORPHA:404473

NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096

CTSD

cathepsin D

OMIM:610127 ORPHA:168486 ORPHA:168491 ORPHA:79262 ORPHA:79263

NCBI chr11:1,752,755...1,763,927
Ensembl chr11:1,752,752...1,764,573

cathepsin F

NCBI chr11:66,563,464...66,568,606
Ensembl chr11:66,563,464...66,568,879

cytochrome b5 type A

NCBI chr18:74,250,846...74,291,963
Ensembl chr18:74,250,846...74,291,973

CYB5R3

cytochrome b5 reductase 3

ORPHA:621

NCBI chr22:42,617,840...42,649,392
Ensembl chr22:42,615,730...42,720,870

CYFIP2

cytoplasmic FMR1 interacting protein 2

OMIM:618008 ORPHA:442835

NCBI chr 5:157,266,123...157,395,594
Ensembl chr 5:157,266,079...157,395,595

CYP27A1

cytochrome P450 family 27 subfamily A member 1

OMIM:213700 ORPHA:909

NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293

DALRD3

DALR anticodon binding domain containing 3

NCBI chr 3:49,015,488...49,021,505
Ensembl chr 3:49,015,488...49,022,293

D-amino acid oxidase

NCBI chr12:108,880,092...108,901,043
Ensembl chr12:108,858,932...108,901,043

DARS2

aspartyl-tRNA synthetase 2, mitochondrial

OMIM:611105

NCBI chr 1:173,824,673...173,858,546
Ensembl chr 1:173,824,653...173,858,808

DCTN1

dynactin subunit 1

NCBI chr 2:74,361,155...74,391,866
Ensembl chr 2:74,361,154...74,392,087

doublecortin

NCBI chr X:111,293,779...111,412,192
Ensembl chr X:111,293,779...111,412,429

DDB2

damage specific DNA binding protein 2

ORPHA:910

NCBI chr11:47,214,454...47,239,217
Ensembl chr11:47,214,465...47,239,217

DDHD domain containing 1

ClinVar Annotator: match by term: Spasticity

NCBI chr14:53,036,755...53,153,323
Ensembl chr14:53,036,745...53,153,323

DDX3X

DEAD-box helicase 3 X-linked

OMIM:300958 ORPHA:457260

NCBI chr X:41,333,308...41,364,472
Ensembl chr X:41,333,348...41,364,472

DEGS1

delta 4-desaturase, sphingolipid 1

OMIM:618404

NCBI chr 1:224,183,240...224,193,441
Ensembl chr 1:224,175,756...224,193,441

DENND5A

DENN domain containing 5A

OMIM:617281

NCBI chr11:9,138,825...9,265,350
Ensembl chr11:9,138,825...9,265,959

DHCR24

24-dehydrocholesterol reductase

OMIM:602398 ORPHA:35107

NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195

DHDDS

dehydrodolichyl diphosphate synthase subunit

OMIM:613861 ORPHA:442835

NCBI chr 1:26,432,321...26,471,306
Ensembl chr 1:26,432,282...26,471,306

DHPS

deoxyhypusine synthase

OMIM:618480

NCBI chr19:12,672,470...12,681,880
Ensembl chr19:12,675,717...12,681,880

DISP1

dispatched RND transporter family member 1

NCBI chr 1:222,815,039...223,005,995
Ensembl chr 1:222,815,022...223,005,995

DLD

dihydrolipoamide dehydrogenase

ORPHA:2394

NCBI chr 7:107,891,107...107,921,198
Ensembl chr 7:107,891,162...107,931,730

DLL1

delta like canonical Notch ligand 1

NCBI chr 6:170,282,206...170,291,078
Ensembl chr 6:170,282,206...170,306,565

DMXL2

Dmx like 2

ClinVar Annotator: match by term: Spasticity

NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833

DNAJC30

DnaJ heat shock protein family (Hsp40) member C30

NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453

DNAJC5

DnaJ heat shock protein family (Hsp40) member C5

NCBI chr20:63,895,126...63,936,011
Ensembl chr20:63,895,126...63,936,031

DNAJC6

DnaJ heat shock protein family (Hsp40) member C6

OMIM:615528 ORPHA:2828

NCBI chr 1:65,264,749...65,415,871
Ensembl chr 1:65,248,219...65,415,871

dynamin 1

NCBI chr 9:128,203,379...128,255,244
Ensembl chr 9:128,191,655...128,255,248

dynamin 1 like

NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650

DNMT1

DNA methyltransferase 1

OMIM:604121 ORPHA:314404

NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286

DPM1

dolichyl-phosphate mannosyltransferase subunit 1, catalytic

ORPHA:79322

NCBI chr20:50,934,855...50,958,564
Ensembl chr20:50,934,867...50,959,140

DTYMK

deoxythymidylate kinase

OMIM:619847

NCBI chr 2:241,675,747...241,686,815
Ensembl chr 2:241,675,747...241,686,944

DYNC1I2

dynein cytoplasmic 1 intermediate chain 2

OMIM:618492

NCBI chr 2:171,687,469...171,750,158
Ensembl chr 2:171,687,409...171,750,158

ECHS1

enoyl-CoA hydratase, short chain 1

OMIM:616277

NCBI chr10:133,362,485...133,373,354
Ensembl chr10:133,362,485...133,373,354

EED

embryonic ectoderm development

ORPHA:3447

NCBI chr11:86,244,753...86,287,615
Ensembl chr11:86,201,212...86,278,813

EEF1A2

eukaryotic translation elongation factor 1 alpha 2

NCBI chr20:63,488,014...63,499,083
Ensembl chr20:63,488,013...63,499,239

EIF2AK2

eukaryotic translation initiation factor 2 alpha kinase 2

OMIM:618877 OMIM:619687

NCBI chr 2:37,099,210...37,156,980
Ensembl chr 2:37,099,210...37,157,522

EIF2B1

eukaryotic translation initiation factor 2B subunit alpha

OMIM:603896

NCBI chr12:123,620,406...123,633,686
Ensembl chr12:123,620,406...123,633,766

EIF2B2

eukaryotic translation initiation factor 2B subunit beta

OMIM:620312

NCBI chr14:75,002,921...75,012,366
Ensembl chr14:75,002,921...75,012,366

EIF2B4

eukaryotic translation initiation factor 2B subunit delta

OMIM:620314

NCBI chr 2:27,364,352...27,370,338
Ensembl chr 2:27,364,352...27,370,338

EIF2S3

eukaryotic translation initiation factor 2 subunit gamma

OMIM:300148

NCBI chr X:24,054,956...24,078,810
Ensembl chr X:24,054,946...24,078,810

EIF4A2

eukaryotic translation initiation factor 4A2

OMIM:620455

NCBI chr 3:186,783,577...186,789,897
Ensembl chr 3:186,783,205...186,789,897

EIF4H

eukaryotic translation initiation factor 4H

NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122

elastin

NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907

ELOVL1

ELOVL fatty acid elongase 1

OMIM:618527

NCBI chr 1:43,363,401...43,368,011
Ensembl chr 1:43,363,398...43,368,074

ELOVL4

ELOVL fatty acid elongase 4

OMIM:133190

NCBI chr 6:79,914,814...79,947,553
Ensembl chr 6:79,914,814...79,947,553

EMAP like 1

NCBI chr14:99,737,722...99,942,060
Ensembl chr14:99,737,693...99,942,060

ENTPD1

ectonucleoside triphosphate diphosphohydrolase 1

OMIM:615683 ORPHA:401810

NCBI chr10:95,694,186...95,877,266
Ensembl chr10:95,711,779...95,877,266

EPH receptor A4

NCBI chr 2:221,418,027...221,574,202
Ensembl chr 2:221,418,027...221,574,202

EPM2A

EPM2A glucan phosphatase, laforin

ORPHA:501

NCBI chr 6:145,383,353...145,736,023
Ensembl chr 6:145,382,535...145,736,023

EPRS1

glutamyl-prolyl-tRNA synthetase 1

OMIM:617951

NCBI chr 1:219,968,600...220,046,505
Ensembl chr 1:219,968,600...220,046,530

ERBB4

erb-b2 receptor tyrosine kinase 4

NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841

ERCC2

ERCC excision repair 2, TFIIH core complex helicase subunit

OMIM:278730 ORPHA:220295 ORPHA:33364 ORPHA:910

NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918

ERCC3

ERCC excision repair 3, TFIIH core complex helicase subunit

ORPHA:220295 ORPHA:33364 ORPHA:910

NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166

ERCC4

ERCC excision repair 4, endonuclease catalytic subunit

ORPHA:220295 ORPHA:910

NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348

ERCC5

ERCC excision repair 5, endonuclease

OMIM:278780 ORPHA:220295 ORPHA:910

NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995

ERCC6

ERCC excision repair 6, chromatin remodeling factor

OMIM:278800

NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538

ERLIN1

ER lipid raft associated 1

OMIM:615681

NCBI chr10:100,150,094...100,186,029
Ensembl chr10:100,150,094...100,186,033

ER lipid raft associated 2

ORPHA:209951 ORPHA:247604

NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422

ESAM

endothelial cell adhesion molecule

OMIM:620371

NCBI chr11:124,753,126...124,762,290
Ensembl chr11:124,752,583...124,762,290

EXOC8

exocyst complex component 8

OMIM:619076

NCBI chr 1:231,332,753...231,337,852
Ensembl chr 1:231,332,753...231,337,852

EXOSC3

exosome component 3

OMIM:614678 ORPHA:2254

NCBI chr 9:37,779,714...37,785,092
Ensembl chr 9:37,759,234...37,832,117

exosome component 5

NCBI chr19:41,386,374...41,397,359
Ensembl chr19:41,386,371...41,397,362

exosome component 8

NCBI chr13:37,000,786...37,009,614
Ensembl chr13:36,998,816...37,025,881

EXOSC9

exosome component 9

OMIM:618065 ORPHA:2254

NCBI chr 4:121,801,323...121,817,021
Ensembl chr 4:121,801,318...121,817,021

EZH2

enhancer of zeste 2 polycomb repressive complex 2 subunit

OMIM:277590 ORPHA:3447

NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321

fatty acyl-CoA reductase 1

OMIM:616154

NCBI chr11:13,668,668...13,732,346
Ensembl chr11:13,668,659...13,732,346

FAT1

FAT atypical cadherin 1

ClinVar Annotator: match by term: Spasticity

NCBI chr 4:186,587,794...186,726,696
Ensembl chr 4:186,587,794...186,726,722

F-box protein 28

NCBI chr 1:224,114,111...224,162,047
Ensembl chr 1:224,114,111...224,162,047

F-box protein 7

NCBI chr22:32,474,811...32,498,829
Ensembl chr22:32,474,676...32,498,829

ferredoxin 2

NCBI chr19:10,310,045...10,316,015
Ensembl chr19:10,309,916...10,316,015

ferredoxin reductase

NCBI chr17:74,862,497...74,872,994
Ensembl chr17:74,862,497...74,873,031

FGF12

fibroblast growth factor 12

NCBI chr 3:192,139,390...192,727,541
Ensembl chr 3:192,139,390...192,767,764

FGF13

fibroblast growth factor 13

NCBI chr X:138,614,727...139,205,023
Ensembl chr X:138,614,727...139,222,777

FGF8

fibroblast growth factor 8

NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371

FGFR1

fibroblast growth factor receptor 1

ORPHA:220386 ORPHA:2396 ORPHA:93924

NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834

FIG4

FIG4 phosphoinositide 5-phosphatase

ORPHA:208441 ORPHA:803

NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098

FKBP6

FKBP prolyl isomerase family member 6 (inactive)

NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637

FOXG1

forkhead box G1

OMIM:613454 ORPHA:442835

NCBI chr14:28,766,787...28,770,277
Ensembl chr14:28,764,329...28,770,277

FOXH1

forkhead box H1

NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849

forkhead box P1

NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978

FRMD5

FERM domain containing 5

OMIM:620094

NCBI chr15:43,870,764...44,199,473
Ensembl chr15:43,870,761...44,195,271

FRMPD4

FERM and PDZ domain containing 4

OMIM:300983

NCBI chr X:11,822,439...12,724,523
Ensembl chr X:11,822,423...12,724,523

FRRS1L

ferric chelate reductase 1 like

OMIM:616981

NCBI chr 9:109,130,293...109,167,249
Ensembl chr 9:109,130,293...109,167,249

ferritin light chain

NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,966,879

alpha-L-fucosidase 1

NCBI chr 1:23,845,077...23,868,290
Ensembl chr 1:23,845,077...23,868,290

FUS RNA binding protein

NCBI chr16:31,180,110...31,194,871
Ensembl chr16:31,180,138...31,196,963

frataxin

NCBI chr 9:69,035,752...69,079,076
Ensembl chr 9:69,035,751...69,079,076

FZR1

fizzy and cell division cycle 20 related 1

OMIM:620145 ORPHA:442835

NCBI chr19:3,506,311...3,538,334
Ensembl chr19:3,506,311...3,538,334

GABBR2

gamma-aminobutyric acid type B receptor subunit 2

ORPHA:3095 ORPHA:442835

NCBI chr 9:98,288,109...98,708,935
Ensembl chr 9:98,288,109...98,708,935

GABRA2

gamma-aminobutyric acid type A receptor subunit alpha2

OMIM:618557 ORPHA:442835

NCBI chr 4:46,243,548...46,390,300
Ensembl chr 4:46,243,548...46,475,230

GABRA5

gamma-aminobutyric acid type A receptor subunit alpha5

OMIM:618559 ORPHA:442835

NCBI chr15:26,866,719...26,949,208
Ensembl chr15:26,866,911...26,949,208

GABRB2

gamma-aminobutyric acid type A receptor subunit beta2

OMIM:617829 ORPHA:442835

NCBI chr 5:161,288,436...161,548,404
Ensembl chr 5:161,288,429...161,549,044

GABRG2

gamma-aminobutyric acid type A receptor subunit gamma2

NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977

GAD1

glutamate decarboxylase 1

OMIM:619124

NCBI chr 2:170,813,210...170,861,151
Ensembl chr 2:170,813,213...170,861,151

GALC

galactosylceramidase

ORPHA:206436 ORPHA:206448

NCBI chr14:87,933,014...87,993,667
Ensembl chr14:87,837,820...87,993,665

gigaxonin

NCBI chr16:81,314,962...81,390,809
Ensembl chr16:81,314,944...81,390,809

GAS1

growth arrest specific 1

NCBI chr 9:86,944,362...86,947,506
Ensembl chr 9:86,944,362...86,947,506

glucosylceramidase beta 1

OMIM:230900 ORPHA:77260

NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699

glucosylceramidase beta 2

ORPHA:352641

NCBI chr 9:35,736,866...35,749,228
Ensembl chr 9:35,736,866...35,749,228

GBE1

1,4-alpha-glucan branching enzyme 1

ORPHA:206583

NCBI chr 3:81,489,703...81,761,645
Ensembl chr 3:81,489,703...81,761,645

GTP cyclohydrolase 1

NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826

GDAP2

ganglioside induced differentiation associated protein 2

OMIM:618369

NCBI chr 1:117,863,485...117,929,621
Ensembl chr 1:117,863,485...117,929,621

GEMIN4

gem nuclear organelle associated protein 4

OMIM:617913

NCBI chr17:744,421...754,410
Ensembl chr17:744,421...753,999

GFAP

glial fibrillary acidic protein

OMIM:203450 ORPHA:363717 ORPHA:363722

NCBI chr17:44,903,159...44,915,500
Ensembl chr17:44,903,159...44,916,937

GFM1

G elongation factor mitochondrial 1

OMIM:609060

NCBI chr 3:158,644,527...158,695,581
Ensembl chr 3:158,644,527...158,695,581

GFM2

GTP dependent ribosome recycling factor mitochondrial 2

OMIM:618397

NCBI chr 5:74,721,206...74,767,117
Ensembl chr 5:74,721,206...74,767,147

GJA1

gap junction protein alpha 1

OMIM:164200 ORPHA:2710

NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727

galactosidase beta 1

NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202

GLE1

GLE1 RNA export mediator

NCBI chr 9:128,504,692...128,542,288
Ensembl chr 9:128,504,655...128,543,874

GLI2

GLI family zinc finger 2

NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653

GLRA1

glycine receptor alpha 1

NCBI chr 5:151,822,513...151,924,851
Ensembl chr 5:151,822,513...151,924,851

GLRB

glycine receptor beta

NCBI chr 4:157,076,150...157,172,090
Ensembl chr 4:157,076,125...157,172,090

glutaredoxin 5

NCBI chr14:95,535,050...95,544,714
Ensembl chr14:95,533,503...95,544,724

GLT8D1

glycosyltransferase 8 domain containing 1

NCBI chr 3:52,694,486...52,705,791
Ensembl chr 3:52,694,486...52,706,032

GLYCTK

glycerate kinase

OMIM:220120 ORPHA:941

NCBI chr 3:52,287,828...52,295,257
Ensembl chr 3:52,287,089...52,295,257

GMPPA

GDP-mannose pyrophosphorylase A

OMIM:615510

NCBI chr 2:219,498,891...219,506,989
Ensembl chr 2:219,498,865...219,513,898

GNAO1

G protein subunit alpha o1

OMIM:617493 ORPHA:1934

NCBI chr16:56,191,489...56,357,444
Ensembl chr16:56,189,660...56,357,444

GPAA1

glycosylphosphatidylinositol anchor attachment 1

OMIM:617810 ORPHA:529665

NCBI chr 8:144,082,634...144,086,216
Ensembl chr 8:144,082,337...144,093,149

gephyrin

NCBI chr14:66,508,147...67,735,355
Ensembl chr14:66,507,407...67,181,803

GPRC5B

G protein-coupled receptor class C group 5 member B

OMIM:620447

NCBI chr16:19,856,691...19,885,634
Ensembl chr16:19,856,691...19,886,167

GPT2

glutamic--pyruvic transaminase 2

OMIM:616281

NCBI chr16:46,884,362...46,931,289
Ensembl chr16:46,884,362...46,931,289

GRIA2

glutamate ionotropic receptor AMPA type subunit 2

OMIM:618917

NCBI chr 4:157,220,120...157,366,075
Ensembl chr 4:157,204,182...157,387,146

GRIA3

glutamate ionotropic receptor AMPA type subunit 3

ClinVar Annotator: match by term: Spasticity

PMID:25741868 PMID:32581362

ORPHA:364028

NCBI chr X:123,184,278...123,490,915
Ensembl chr X:123,184,153...123,490,915

GRIA4

glutamate ionotropic receptor AMPA type subunit 4

OMIM:617864

NCBI chr11:105,609,616...105,982,090
Ensembl chr11:105,609,535...105,982,090

GRIN1

glutamate ionotropic receptor NMDA type subunit 1

OMIM:614254 OMIM:617820 ORPHA:1934 ORPHA:208447

NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756

GRIN2B

glutamate ionotropic receptor NMDA type subunit 2B

OMIM:613970 OMIM:616139

NCBI chr12:13,537,337...13,982,134
Ensembl chr12:13,437,942...13,982,002

GRIN2D

glutamate ionotropic receptor NMDA type subunit 2D

NCBI chr19:48,393,668...48,444,931
Ensembl chr19:48,393,668...48,444,931

GRM1

glutamate metabotropic receptor 1

OMIM:617691

NCBI chr 6:146,027,707...146,437,601
Ensembl chr 6:146,027,646...146,437,601

GRM7

glutamate metabotropic receptor 7

NCBI chr 3:6,861,115...7,741,533
Ensembl chr 3:6,770,001...7,741,533

GRN

granulin precursor

NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106

GTF2E2

general transcription factor IIE subunit 2

NCBI chr 8:30,578,318...30,658,236
Ensembl chr 8:30,578,318...30,658,236

GTF2H5

general transcription factor IIH subunit 5

NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344

GTF2I

general transcription factor IIi

NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692

GTF2IRD1

GTF2I repeat domain containing 1

NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605

GTF2IRD2

GTF2I repeat domain containing 2

NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605

GUF1

GTP binding elongation factor GUF1

OMIM:617065

NCBI chr 4:44,678,420...44,700,928
Ensembl chr 4:44,678,420...44,700,928

H3.3 histone A

NCBI chr 1:226,061,831...226,072,019
Ensembl chr 1:226,061,851...226,072,019

H4 clustered histone 5

NCBI chr 6:26,204,610...26,205,021
Ensembl chr 6:26,204,610...26,205,021

HACE1

HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1

ORPHA:464282

NCBI chr 6:104,728,094...104,859,919
Ensembl chr 6:104,728,094...104,859,919

HCN1

hyperpolarization activated cyclic nucleotide gated potassium channel 1

NCBI chr 5:45,254,948...45,696,380
Ensembl chr 5:45,254,948...45,696,498

HEPACAM

hepatic and glial cell adhesion molecule

OMIM:604004

NCBI chr11:124,919,205...124,936,047
Ensembl chr11:124,919,205...124,936,412

HEXB

hexosaminidase subunit beta

OMIM:268800 ORPHA:309155 ORPHA:309169

NCBI chr 5:74,640,023...74,721,288
Ensembl chr 5:74,640,023...74,722,647

HID1

HID1 domain containing

OMIM:619983

NCBI chr17:74,950,742...74,972,759
Ensembl chr17:74,950,742...74,973,166

HIKESHI

heat shock protein nuclear import factor hikeshi

OMIM:616881

NCBI chr11:86,302,240...86,345,943
Ensembl chr11:86,302,211...86,345,943

HLA-DQB1

major histocompatibility complex, class II, DQ beta 1

OMIM:126200

NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383

HLA-DRB1

major histocompatibility complex, class II, DR beta 1

OMIM:126200

NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848

HMGCL

3-hydroxy-3-methylglutaryl-CoA lyase

OMIM:246450 ORPHA:20

NCBI chr 1:23,801,885...23,825,429
Ensembl chr 1:23,801,885...23,838,620

HNRNPA1

heterogeneous nuclear ribonucleoprotein A1

NCBI chr12:54,280,726...54,287,087
Ensembl chr12:54,280,193...54,287,088

HPRT1

hypoxanthine phosphoribosyltransferase 1

OMIM:300322 ORPHA:510

NCBI chr X:134,460,165...134,500,668
Ensembl chr X:134,460,165...134,520,513

hydroxysteroid 17-beta dehydrogenase 10

OMIM:300438

NCBI chr X:53,431,258...53,434,376
Ensembl chr X:53,431,258...53,434,370

HTRA1

HtrA serine peptidase 1

OMIM:600142 ORPHA:199354

NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907

HTRA2

HtrA serine peptidase 2

NCBI chr 2:74,529,405...74,533,556
Ensembl chr 2:74,529,596...74,533,350

huntingtin

NCBI chr 4:3,074,681...3,243,960
Ensembl chr 4:3,041,363...3,243,957

IARS1

isoleucyl-tRNA synthetase 1

OMIM:617093 ORPHA:541423

NCBI chr 9:92,210,207...92,293,697
Ensembl chr 9:92,210,207...92,293,854

interferon induced with helicase C domain 1

NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684

IFT172

intraflagellar transport 172

NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805

IFT27

intraflagellar transport 27

NCBI chr22:36,758,211...36,776,119
Ensembl chr22:36,758,202...36,776,256

IFT56

intraflagellar transport 56

OMIM:619534

NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986

IFT74

intraflagellar transport 74

NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134

IKBKG

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

OMIM:308300 ORPHA:464

NCBI chr X:154,541,238...154,565,046
Ensembl chr X:154,541,199...154,565,046

INPP5E

inositol polyphosphate-5-phosphatase E

OMIM:610156

NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845

INPP5K

inositol polyphosphate-5-phosphatase K

ORPHA:559

NCBI chr17:1,494,577...1,516,612
Ensembl chr17:1,494,577...1,516,742

IREB2

iron responsive element binding protein 2

OMIM:618451

NCBI chr15:78,437,431...78,501,453
Ensembl chr15:78,437,431...78,501,453

IRF2BPL

interferon regulatory factor 2 binding protein like

OMIM:618088

NCBI chr14:77,024,543...77,028,708
Ensembl chr14:77,024,543...77,028,708

ISCA1

iron-sulfur cluster assembly 1

OMIM:617613

NCBI chr 9:86,264,546...86,282,538
Ensembl chr 9:86,264,546...86,283,102

ISCA2

iron-sulfur cluster assembly 2

OMIM:616370

NCBI chr14:74,493,765...74,497,106
Ensembl chr14:74,493,756...74,497,106

ITM2B

integral membrane protein 2B

OMIM:117300 OMIM:176500

NCBI chr13:48,233,206...48,270,357
Ensembl chr13:48,232,612...48,270,357

JAM3

junctional adhesion molecule 3

OMIM:613730

NCBI chr11:134,069,072...134,152,001
Ensembl chr11:134,069,071...134,152,001

KATNB1

katanin regulatory subunit B1

OMIM:616212

NCBI chr16:57,735,770...57,757,244
Ensembl chr16:57,735,739...57,757,244

KCNA1

potassium voltage-gated channel subfamily A member 1

NCBI chr12:4,909,905...4,918,256
Ensembl chr12:4,909,905...4,918,256

KCNA2

potassium voltage-gated channel subfamily A member 2

NCBI chr 1:110,593,580...110,631,440
Ensembl chr 1:110,519,837...110,631,474

KCNB1

potassium voltage-gated channel subfamily B member 1

NCBI chr20:49,363,877...49,483,362
Ensembl chr20:49,293,394...49,484,297

KCNC3

potassium voltage-gated channel subfamily C member 3

OMIM:605259

NCBI chr19:50,311,937...50,333,536
Ensembl chr19:50,311,937...50,333,515

KCNT1

potassium sodium-activated channel subfamily T member 1

OMIM:614959

NCBI chr 9:135,702,185...135,795,502
Ensembl chr 9:135,702,185...135,795,508

KDM5C

lysine demethylase 5C

OMIM:300534 ORPHA:85279

NCBI chr X:53,176,277...53,225,207
Ensembl chr X:53,176,283...53,225,422

KIF11

kinesin family member 11

ORPHA:2526

NCBI chr10:92,593,130...92,655,395
Ensembl chr10:92,574,105...92,655,395

kinesin family member 1A

OMIM:614255, RGD:12911226

DNA:missense mutations: :multiple

HPO
RGD

PMID:25265257

NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293

KIF1C

kinesin family member 1C

OMIM:611302 ORPHA:397946

NCBI chr17:4,997,950...5,028,401
Ensembl chr17:4,997,950...5,028,401

KIF7

kinesin family member 7

ClinVar Annotator: match by term: Spasticity

PMID:25741868 PMID:28492532 PMID:29286531

NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086

KMT2B

lysine methyltransferase 2B

OMIM:617284

NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880

KRAS

KRAS proto-oncogene, GTPase

ORPHA:2396

NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936

L1CAM

L1 cell adhesion molecule

OMIM:304100 OMIM:307000 ORPHA:1497 ORPHA:2182, RGD:6483012

DNA:snps:cds:multiple

HPO
RGD

PMID:7920659

NCBI chr X:153,861,514...153,886,173
Ensembl chr X:153,861,514...153,886,173

LAGE3

L antigen family member 3

OMIM:301006

NCBI chr X:154,477,775...154,479,281
Ensembl chr X:154,477,775...154,479,281

LETM1

leucine zipper and EF-hand containing transmembrane protein 1

OMIM:620089

NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156

LIM domain kinase 1

NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525

LINGO1

leucine rich repeat and Ig domain containing 1

OMIM:618103

NCBI chr15:77,613,027...77,820,900
Ensembl chr15:77,613,027...77,820,900

LMBRD2

LMBR1 domain containing 2

OMIM:619694

NCBI chr 5:36,098,407...36,151,887
Ensembl chr 5:36,098,407...36,151,887

LMNB1

lamin B1

OMIM:169500 ORPHA:99027

NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020

LRPPRC

leucine rich pentatricopeptide repeat containing

OMIM:220111 ORPHA:70472

NCBI chr 2:43,886,224...43,996,265
Ensembl chr 2:43,886,224...43,996,226

LRRK2

leucine rich repeat kinase 2

NCBI chr12:40,224,997...40,369,285
Ensembl chr12:40,196,744...40,369,285

LSM11

LSM11, U7 small nuclear RNA associated

NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709

LYRM7

LYR motif containing 7

OMIM:615838

NCBI chr 5:131,170,944...131,205,428
Ensembl chr 5:131,170,944...131,205,428

LZTFL1

leucine zipper transcription factor like 1

NCBI chr 3:45,823,316...45,915,724
Ensembl chr 3:45,823,316...45,916,042

MACF1

microtubule actin crosslinking factor 1

OMIM:618325 ORPHA:572013

NCBI chr 1:39,084,167...39,487,138
Ensembl chr 1:39,081,316...39,487,177

myelin associated glycoprotein

OMIM:616680 ORPHA:459056

NCBI chr19:35,292,161...35,313,807
Ensembl chr19:35,292,125...35,313,807

MAN2B1

mannosidase alpha class 2B member 1

OMIM:248500

NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,646,511...12,666,742

MAPK8IP3

mitogen-activated protein kinase 8 interacting protein 3

OMIM:618443

NCBI chr16:1,706,195...1,770,351
Ensembl chr16:1,706,166...1,770,351

methionyl-tRNA synthetase 1

OMIM:620323

NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569

MARS2

methionyl-tRNA synthetase 2, mitochondrial

OMIM:611390 ORPHA:314603

NCBI chr 2:197,705,369...197,708,395
Ensembl chr 2:197,705,369...197,708,395

matrin 3

NCBI chr 5:139,274,101...139,331,677
Ensembl chr 5:139,273,752...139,331,671
Ensembl chr 5:139,273,752...139,331,671

MCCC1

methylcrotonyl-CoA carboxylase subunit 1

ORPHA:6

NCBI chr 3:183,015,218...183,116,196
Ensembl chr 3:183,015,218...183,116,075

MCCC2

methylcrotonyl-CoA carboxylase subunit 2

ORPHA:6

NCBI chr 5:71,587,340...71,658,706
Ensembl chr 5:71,579,531...71,658,706

MCEE

methylmalonyl-CoA epimerase

OMIM:251120

NCBI chr 2:71,109,687...71,130,229
Ensembl chr 2:71,109,684...71,130,239

methyl-CpG binding protein 2

OMIM:312750 ORPHA:209370 ORPHA:3095

NCBI chr X:154,021,573...154,097,717
Ensembl chr X:154,021,573...154,137,103

MECR

mitochondrial trans-2-enoyl-CoA reductase

OMIM:617282 ORPHA:508093

NCBI chr 1:29,167,696...29,230,934
Ensembl chr 1:29,192,657...29,230,942

MED12

mediator complex subunit 12

OMIM:305450

NCBI chr X:71,118,596...71,142,450
Ensembl chr X:71,118,543...71,144,103

MED17

mediator complex subunit 17

OMIM:613668

NCBI chr11:93,784,282...93,814,963
Ensembl chr11:93,784,227...93,814,963

MED23

mediator complex subunit 23

OMIM:614249

NCBI chr 6:131,573,966...131,628,313
Ensembl chr 6:131,573,966...131,628,242

MED25

mediator complex subunit 25

OMIM:616449 ORPHA:464738

NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383

MED27

mediator complex subunit 27

OMIM:619286

NCBI chr 9:131,860,112...132,079,867
Ensembl chr 9:131,852,928...132,079,867

METTL27

methyltransferase like 27

NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516

METTL5

methyltransferase 5, N6-adenosine

OMIM:618665

NCBI chr 2:169,811,757...169,824,905
Ensembl chr 2:169,810,081...169,824,931

MFF

mitochondrial fission factor

OMIM:617086 ORPHA:485421

NCBI chr 2:227,325,251...227,357,836
Ensembl chr 2:227,325,151...227,357,833

mitofusin 2

NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211

MFSD8

major facilitator superfamily domain containing 8

ORPHA:168491

NCBI chr 4:127,917,732...127,965,963
Ensembl chr 4:127,917,799...127,966,034

MICOS13

mitochondrial contact site and cristae organizing system subunit 13

OMIM:618329

NCBI chr19:5,678,422...5,680,516
Ensembl chr19:5,678,421...5,680,516

MINPP1

multiple inositol-polyphosphate phosphatase 1

ORPHA:284339

NCBI chr10:87,504,893...87,553,461
Ensembl chr10:87,504,875...87,553,461

MKKS

MKKS centrosomal shuttling protein

NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222

MKS1

MKS transition zone complex subunit 1

NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605

MLC1

modulator of VRAC current 1

OMIM:604004

NCBI chr22:50,059,391...50,085,875
Ensembl chr22:50,059,391...50,085,426

MLXIPL

MLX interacting protein like

NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543

MORC2

MORC family CW-type zinc finger 2

OMIM:619090

NCBI chr22:30,925,130...30,968,774
Ensembl chr22:30,925,130...30,968,774

MPLKIP

M-phase specific PLK1 interacting protein

NCBI chr 7:40,126,027...40,134,622
Ensembl chr 7:40,126,027...40,134,622

MRPS34

mitochondrial ribosomal protein S34

OMIM:617664

NCBI chr16:1,771,895...1,773,134
Ensembl chr16:1,771,890...1,773,150

mitochondrially encoded ATP synthase membrane subunit 6

ORPHA:225154 ORPHA:255210

NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207

MT-ND1

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1

NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262

MT-ND2

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2

NCBI chr MT:4,470...5,511
Ensembl chr MT:4,470...5,511

MT-ND3

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3

NCBI chr MT:10,059...10,404
Ensembl chr MT:10,059...10,404

MT-ND4

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4

NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137

MT-ND5

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5

NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148

MT-ND6

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6

NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673

MT-TF

mitochondrially encoded tRNA-Phe (UUU/C)

OMIM:545000

NCBI chr MT:577...647
Ensembl chr MT:577...647

MT-TI

mitochondrially encoded tRNA-Ile (AUU/C)

OMIM:545000

NCBI chr MT:4,263...4,331
Ensembl chr MT:4,263...4,331

MT-TK

mitochondrially encoded tRNA-Lys (AAA/G)

OMIM:545000 ORPHA:255210

NCBI chr MT:8,295...8,364
Ensembl chr MT:8,295...8,364

MT-TL1

mitochondrially encoded tRNA-Leu (UUA/G) 1

OMIM:545000 ORPHA:255210

NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304

MT-TP

mitochondrially encoded tRNA-Pro (CCN)

OMIM:545000

NCBI chr MT:15,956...16,023
Ensembl chr MT:15,956...16,023

MT-TV

mitochondrially encoded tRNA-Val (GUN)

NCBI chr MT:1,602...1,670
Ensembl chr MT:1,602...1,670

MT-TW

mitochondrially encoded tRNA-Trp (UGA/G)

NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579

MTHFS

methenyltetrahydrofolate synthetase

OMIM:618367

NCBI chr15:79,843,547...79,897,285
Ensembl chr15:79,833,585...79,897,379

MTO1

mitochondrial tRNA translation optimization 1

OMIM:614702

NCBI chr 6:73,461,737...73,509,236
Ensembl chr 6:73,461,578...73,509,236

MTR

5-methyltetrahydrofolate-homocysteine methyltransferase

OMIM:250940

NCBI chr 1:236,795,281...236,903,981
Ensembl chr 1:236,795,260...236,921,278

mitochondrial translation release factor in rescue

ORPHA:320375

NCBI chr12:123,232,914...123,257,960
Ensembl chr12:123,233,385...123,258,079

myosin VA

NCBI chr15:52,307,283...52,529,050
Ensembl chr15:52,307,281...52,529,132

NACC1

nucleus accumbens associated 1

OMIM:617393 ORPHA:500545

NCBI chr19:13,116,852...13,141,147
Ensembl chr19:13,116,862...13,141,147

NADK2

NAD kinase 2, mitochondrial

OMIM:616034

NCBI chr 5:36,192,589...36,242,279
Ensembl chr 5:36,192,589...36,242,279

NAGA

alpha-N-acetylgalactosaminidase

OMIM:609241 ORPHA:79279

NCBI chr22:42,058,334...42,070,842
Ensembl chr22:42,058,334...42,070,842

NARS2

asparaginyl-tRNA synthetase 2, mitochondrial

OMIM:616239

NCBI chr11:78,435,968...78,574,864
Ensembl chr11:78,435,620...78,575,194

NCF1

neutrophil cytosolic factor 1

NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315

NDUFA2

NADH:ubiquinone oxidoreductase subunit A2

OMIM:618235

NCBI chr 5:140,645,285...140,647,630
Ensembl chr 5:140,638,740...140,647,771

NDUFA6

NADH:ubiquinone oxidoreductase subunit A6

OMIM:618253

NCBI chr22:42,085,526...42,090,772
Ensembl chr22:42,085,526...42,090,884

NDUFAF5

NADH:ubiquinone oxidoreductase complex assembly factor 5

OMIM:618238

NCBI chr20:13,785,028...13,821,580
Ensembl chr20:13,785,007...13,821,580

NDUFC2

NADH:ubiquinone oxidoreductase subunit C2

OMIM:619170

NCBI chr11:78,068,297...78,079,862
Ensembl chr11:78,068,297...78,079,862

NDUFS4

NADH:ubiquinone oxidoreductase subunit S4

OMIM:252010

NCBI chr 5:53,560,639...53,683,338
Ensembl chr 5:53,560,633...53,683,338

NDUFV1

NADH:ubiquinone oxidoreductase core subunit V1

OMIM:618225

NCBI chr11:67,606,936...67,612,554
Ensembl chr11:67,605,653...67,612,554

NDUFV2

NADH:ubiquinone oxidoreductase core subunit V2

OMIM:618229

NCBI chr18:9,102,699...9,134,341
Ensembl chr18:9,102,630...9,134,345

NECAP1

NECAP endocytosis associated 1

NCBI chr12:8,082,274...8,097,881
Ensembl chr12:8,076,939...8,097,881

NEFH

neurofilament heavy chain

NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390

NEFL

neurofilament light chain

OMIM:617882

NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721

NEK1

NIMA related kinase 1

OMIM:617892 ORPHA:803

NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632

NEU1

neuraminidase 1

ORPHA:93399 ORPHA:93400

NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,659...31,862,905

NEUROD2

neuronal differentiation 2

NCBI chr17:39,603,768...39,607,920
Ensembl chr17:39,603,536...39,609,777

NHLRC1

NHL repeat containing E3 ubiquitin protein ligase 1

ORPHA:501

NCBI chr 6:18,120,440...18,122,677
Ensembl chr 6:18,120,440...18,122,677

NK6 homeobox 2

NCBI chr10:132,783,181...132,786,147
Ensembl chr10:132,783,179...132,786,147

NODAL

nodal growth differentiation factor

NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951

notch receptor 3

NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995

NOVA2

NOVA alternative splicing regulator 2

OMIM:618859

NCBI chr19:45,933,734...45,973,865
Ensembl chr19:45,933,734...45,974,044

NPC1

NPC intracellular cholesterol transporter 1

OMIM:257220

NCBI chr18:23,506,184...23,586,506
Ensembl chr18:23,506,184...23,586,506

NPC2

NPC intracellular cholesterol transporter 2

OMIM:607625

NCBI chr14:74,479,935...74,493,512
Ensembl chr14:74,476,192...74,494,177

nephrocystin 1

NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066

NR2F1

nuclear receptor subfamily 2 group F member 1

OMIM:615722 ORPHA:401777

NCBI chr 5:93,583,222...93,594,611
Ensembl chr 5:93,583,222...93,594,611

NSD1

nuclear receptor binding SET domain protein 1

ORPHA:3447

NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213

NSRP1

nuclear speckle splicing regulatory protein 1

ClinVar Annotator: match by term: Spasticity

PMID:34385670

NCBI chr17:30,116,816...30,186,475
Ensembl chr17:30,115,521...30,186,475

NSUN2

NOP2/Sun RNA methyltransferase 2

OMIM:611091

NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291

netrin G1

NCBI chr 1:107,140,088...107,484,923
Ensembl chr 1:107,140,007...107,484,923

netrin G2

NCBI chr 9:132,161,689...132,244,526
Ensembl chr 9:132,162,058...132,244,526

NTRK2

neurotrophic receptor tyrosine kinase 2

NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751

NUBPL

NUBP iron-sulfur cluster assembly factor, mitochondrial

OMIM:618242

NCBI chr14:31,561,404...31,861,224
Ensembl chr14:31,489,956...31,861,224

nucleoporin 214

NCBI chr 9:131,125,586...131,234,663
Ensembl chr 9:131,125,573...131,234,663

nucleoporin 54

NCBI chr 4:76,114,664...76,148,397
Ensembl chr 4:76,107,562...76,148,485

NUP62

nucleoporin 62

OMIM:271930 ORPHA:225154

NCBI chr19:49,906,825...49,929,504
Ensembl chr19:49,906,825...49,929,764

NUS1

NUS1 dehydrodolichyl diphosphate synthase subunit

NCBI chr 6:117,675,469...117,710,727
Ensembl chr 6:117,675,469...117,710,727

OCLN

occludin

OMIM:251290 ORPHA:1229

NCBI chr 5:69,492,547...69,558,104
Ensembl chr 5:69,492,292...69,558,104

ODC1

ornithine decarboxylase 1

ORPHA:544488

NCBI chr 2:10,439,968...10,448,327
Ensembl chr 2:10,439,968...10,448,327

OGDHL

oxoglutarate dehydrogenase L

OMIM:619701

NCBI chr10:49,734,641...49,762,379
Ensembl chr10:49,734,641...49,762,379

OPA1 mitochondrial dynamin like GTPase

OMIM:125250 ORPHA:98673

NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811

OPA3

outer mitochondrial membrane lipid metabolism regulator OPA3

OMIM:258501

NCBI chr19:45,527,427...45,584,802
Ensembl chr19:45,527,767...45,602,212

oligophrenin 1

NCBI chr X:68,042,344...68,433,841
Ensembl chr X:67,949,349...68,433,913

optineurin

NCBI chr10:13,100,082...13,138,308
Ensembl chr10:13,099,449...13,138,308

OSGEP

O-sialoglycoprotein endopeptidase

OMIM:617729

NCBI chr14:20,446,401...20,454,812
Ensembl chr14:20,446,401...20,455,089

OTUD6B

OTU deubiquitinase 6B

ORPHA:505237

NCBI chr 8:91,070,344...91,087,093
Ensembl chr 8:91,070,196...91,087,095

PACS2

phosphofurin acidic cluster sorting protein 2

NCBI chr14:105,300,774...105,398,147
Ensembl chr14:105,300,563...105,398,147

PANK2

pantothenate kinase 2

OMIM:234200 ORPHA:216866 ORPHA:216873

NCBI chr20:3,888,781...3,929,887
Ensembl chr20:3,888,839...3,929,887

PARK7

Parkinsonism associated deglycase

NCBI chr 1:7,961,711...7,985,505
Ensembl chr 1:7,954,291...7,985,505

PARS2

prolyl-tRNA synthetase 2, mitochondrial

OMIM:618437 ORPHA:442835

NCBI chr 1:54,756,898...54,764,523
Ensembl chr 1:54,756,898...54,764,523

PCLO

piccolo presynaptic cytomatrix protein

OMIM:608027

NCBI chr 7:82,754,012...83,162,884
Ensembl chr 7:82,754,012...83,162,930

PCYT2

phosphate cytidylyltransferase 2, ethanolamine

OMIM:618770

NCBI chr17:81,900,958...81,911,399
Ensembl chr17:81,900,958...81,911,432

PDCD1

programmed cell death 1

OMIM:126200

NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894

PEX1

peroxisomal biogenesis factor 1

NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520

PEX10

peroxisomal biogenesis factor 10

NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797

PEX11B

peroxisomal biogenesis factor 11 beta

NCBI chr 1:145,911,348...145,918,717
Ensembl chr 1:145,911,350...145,918,717

PEX12

peroxisomal biogenesis factor 12

NCBI chr17:35,574,795...35,578,571
Ensembl chr17:35,574,795...35,578,863

PEX13

peroxisomal biogenesis factor 13

NCBI chr 2:61,017,720...61,051,990
Ensembl chr 2:61,017,225...61,051,990

PEX14

peroxisomal biogenesis factor 14

NCBI chr 1:10,474,950...10,630,758
Ensembl chr 1:10,472,288...10,630,758

PEX16

peroxisomal biogenesis factor 16

OMIM:614877 ORPHA:772

NCBI chr11:45,909,663...45,918,822
Ensembl chr11:45,909,663...45,918,812

PEX19

peroxisomal biogenesis factor 19

NCBI chr 1:160,276,807...160,285,151
Ensembl chr 1:160,276,807...160,286,348

PEX2

peroxisomal biogenesis factor 2

NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044

PEX26

peroxisomal biogenesis factor 26

NCBI chr22:18,077,990...18,105,396
Ensembl chr22:18,077,923...18,105,396

PEX3

peroxisomal biogenesis factor 3

NCBI chr 6:143,450,805...143,490,616
Ensembl chr 6:143,450,805...143,490,616

PEX5

peroxisomal biogenesis factor 5

NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574

PEX6

peroxisomal biogenesis factor 6

NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181

PEX7

peroxisomal biogenesis factor 7

OMIM:215100

NCBI chr 6:136,822,592...136,913,934
Ensembl chr 6:136,822,564...136,913,934

PFN1

profilin 1

OMIM:614808 ORPHA:803

NCBI chr17:4,945,652...4,948,530
Ensembl chr17:4,945,652...4,949,061

post-GPI attachment to proteins inositol deacylase 1

OMIM:615802

NCBI chr 2:196,833,004...196,926,707
Ensembl chr 2:196,833,004...196,927,796

PHGDH

phosphoglycerate dehydrogenase

ORPHA:79351

NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,218

phosphatidylinositol 4-kinase alpha

NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417

PIGA

phosphatidylinositol glycan anchor biosynthesis class A

OMIM:300868 OMIM:301072

NCBI chr X:15,319,451...15,335,554
Ensembl chr X:15,319,452...15,335,554

PIGN

phosphatidylinositol glycan anchor biosynthesis class N

OMIM:614080

NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118

PIGP

phosphatidylinositol glycan anchor biosynthesis class P

NCBI chr21:37,065,364...37,073,071
Ensembl chr21:37,062,846...37,073,170

PIGQ

phosphatidylinositol glycan anchor biosynthesis class Q

NCBI chr16:569,968...584,109
Ensembl chr16:566,995...584,109

PIGU

phosphatidylinositol glycan anchor biosynthesis class U

OMIM:618590

NCBI chr20:34,560,542...34,677,092
Ensembl chr20:34,560,542...34,698,790

PINK1

PTEN induced kinase 1

NCBI chr 1:20,633,458...20,651,511
Ensembl chr 1:20,633,458...20,651,511

phospholipase A2 group VI

OMIM:610217 OMIM:612953 ORPHA:199351 ORPHA:35069

NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778

PLCB1

phospholipase C beta 1

OMIM:613722

NCBI chr20:8,132,266...8,884,900
Ensembl chr20:8,077,251...8,968,360

PLCH1

phospholipase C eta 1

ORPHA:93925

NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,071

proteolipid protein 1

ClinVar Annotator: match by term: Spasticity

ORPHA:280219 ORPHA:99015

NCBI chr X:103,776,506...103,792,619
Ensembl chr X:103,773,718...103,792,619

PMM2

phosphomannomutase 2

ClinVar Annotator: match by term: Spasticity

PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 More...

NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534

PMP22

peripheral myelin protein 22

ClinVar Annotator: match by term: Spasticity

NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292

PMPCA

peptidase, mitochondrial processing subunit alpha

OMIM:213200 ORPHA:1170

NCBI chr 9:136,410,658...136,423,761
Ensembl chr 9:136,410,630...136,427,992

PMPCB

peptidase, mitochondrial processing subunit beta

OMIM:617954

NCBI chr 7:103,297,435...103,347,542
Ensembl chr 7:103,297,407...103,331,818

PNKP

polynucleotide kinase 3'-phosphatase

NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351

PNP

purine nucleoside phosphorylase

ORPHA:760

NCBI chr14:20,469,406...20,477,089
Ensembl chr14:20,461,992...20,477,094

patatin like phospholipase domain containing 6

OMIM:215470

NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764

PNPLA8

patatin like phospholipase domain containing 8

OMIM:251950

NCBI chr 7:108,470,417...108,528,178
Ensembl chr 7:108,470,417...108,569,666

podocalyxin like

NCBI chr 7:131,500,271...131,556,628
Ensembl chr 7:131,500,262...131,558,217

POLA1

DNA polymerase alpha 1, catalytic subunit

OMIM:301030

NCBI chr X:24,693,918...24,996,986
Ensembl chr X:24,693,873...24,996,986

POLG

DNA polymerase gamma, catalytic subunit

ORPHA:726

NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861

POLR1C

RNA polymerase I and III subunit C

OMIM:616494

NCBI chr 6:43,517,089...44,461,400
Ensembl chr 6:43,509,702...43,562,419

POLR3A

RNA polymerase III subunit A

OMIM:607694 ORPHA:3455 ORPHA:447896

NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522

POLR3B

RNA polymerase III subunit B

OMIM:607694 OMIM:614381 OMIM:619742

NCBI chr12:106,357,748...106,510,198
Ensembl chr12:106,357,748...106,510,198

POMGNT1

protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)

OMIM:253280

NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305

paraoxonase 1

NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532

paraoxonase 2

NCBI chr 7:95,404,862...95,435,028
Ensembl chr 7:95,404,862...95,435,329

paraoxonase 3

NCBI chr 7:95,359,872...95,396,375
Ensembl chr 7:95,359,872...95,396,375

POU3F3

POU class 3 homeobox 3

OMIM:618604

NCBI chr 2:104,854,115...104,858,574
Ensembl chr 2:104,853,287...104,858,574

PPARGC1A

PPARG coactivator 1 alpha

NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089

PPP1R15B

protein phosphatase 1 regulatory subunit 15B

OMIM:616817

NCBI chr 1:204,395,826...204,411,817
Ensembl chr 1:204,396,492...204,411,887

PPP3CA

protein phosphatase 3 catalytic subunit alpha

OMIM:617711 ORPHA:442835

NCBI chr 4:101,023,418...101,347,526
Ensembl chr 4:101,023,409...101,348,278

PPT1

palmitoyl-protein thioesterase 1

OMIM:256730 ORPHA:168491 ORPHA:79262 ORPHA:79263

NCBI chr 1:40,071,461...40,097,252
Ensembl chr 1:40,072,710...40,097,260

PQBP1

polyglutamine binding protein 1

OMIM:309500 ORPHA:93947 ORPHA:93950

NCBI chr X:48,897,930...48,903,143
Ensembl chr X:48,890,197...48,903,402

PR/SET domain 8

NCBI chr 4:80,185,270...80,204,329
Ensembl chr 4:80,183,879...80,204,329

PRKN

parkin RBR E3 ubiquitin protein ligase

NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775

PRNP

prion protein (Kanno blood group)

OMIM:137440

NCBI chr20:4,686,456...4,701,588
Ensembl chr20:4,686,350...4,701,590

PRPH

peripherin

NCBI chr12:49,295,147...49,298,686
Ensembl chr12:49,295,147...49,298,686

PSAP

prosaposin

ORPHA:206436 ORPHA:309256 ORPHA:309263 ORPHA:309271

NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251

PTCH1

patched 1

NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057

PTPN23

protein tyrosine phosphatase non-receptor type 23

OMIM:618890

NCBI chr 3:47,381,021...47,413,435
Ensembl chr 3:47,381,011...47,413,435

PUM1

pumilio RNA binding family member 1

OMIM:617931

NCBI chr 1:30,931,506...31,065,717
Ensembl chr 1:30,931,506...31,065,991

PYCR2

pyrroline-5-carboxylate reductase 2

OMIM:616420 ORPHA:481152

NCBI chr 1:225,919,878...225,924,250
Ensembl chr 1:225,919,877...225,924,340

RAB11B

RAB11B, member RAS oncogene family

OMIM:617807

NCBI chr19:8,390,360...8,404,434
Ensembl chr19:8,389,981...8,404,434

RAB18

RAB18, member RAS oncogene family

NCBI chr10:27,504,304...27,542,239
Ensembl chr10:27,504,174...27,543,207

RAB27A

RAB27A, member RAS oncogene family

OMIM:607624

NCBI chr15:55,202,966...55,289,813
Ensembl chr15:55,202,966...55,319,113

RAB3GAP1

RAB3 GTPase activating protein catalytic subunit 1

NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,289...135,176,667

RAB3 GTPase activating non-catalytic protein subunit 2

NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529

RAB9B

RAB9B, member RAS oncogene family

ClinVar Annotator: match by term: Spasticity

NCBI chr X:103,776,324...103,832,257
Ensembl chr X:103,822,327...103,832,257

RAD50

RAD50 double strand break repair protein

OMIM:613078

NCBI chr 5:132,556,977...132,646,349
Ensembl chr 5:132,556,019...132,646,349

RALGAPA1

Ral GTPase activating protein catalytic subunit alpha 1

OMIM:618797

NCBI chr14:35,538,356...35,809,295
Ensembl chr14:35,538,352...35,809,304

RANBP2

RAN binding protein 2

ORPHA:88619

NCBI chr 2:108,719,482...109,842,301
Ensembl chr 2:108,719,482...108,785,810

arginyl-tRNA synthetase 2, mitochondrial

NCBI chr 6:87,513,938...87,589,987
Ensembl chr 6:87,513,459...87,590,028

RBMX

RNA binding motif protein X-linked

OMIM:309555

NCBI chr X:136,869,192...136,880,725
Ensembl chr X:136,848,004...136,880,764

receptor accessory protein 1

ClinVar Annotator: match by term: Spasticity

PMID:25025039 PMID:25741868

NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083

REEP2

receptor accessory protein 2

OMIM:615625 OMIM:620606

NCBI chr 5:138,439,057...138,446,965
Ensembl chr 5:138,439,057...138,446,969

RETREG1

reticulophagy regulator 1

OMIM:613115

NCBI chr 5:16,473,053...16,616,997
Ensembl chr 5:16,473,038...16,617,101

RFC2

replication factor C subunit 2

NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458

RFT1 homolog

NCBI chr 3:53,066,853...53,130,435
Ensembl chr 3:53,088,483...53,130,453

RLIM

ring finger protein, LIM domain interacting

OMIM:300978

NCBI chr X:74,582,976...74,614,624
Ensembl chr X:74,582,976...74,614,624

RNASEH2A

ribonuclease H2 subunit A

OMIM:610333 ORPHA:51

NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640

ribonuclease H2 subunit B

NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120

RNASEH2C

ribonuclease H2 subunit C

OMIM:610329 ORPHA:51

NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818

ribonuclease T2

NCBI chr 6:166,922,113...166,956,550
Ensembl chr 6:166,922,113...166,957,191

RNF113A

ring finger protein 113A

NCBI chr X:119,870,475...119,871,733
Ensembl chr X:119,870,475...119,871,733

RNF13

ring finger protein 13

ORPHA:544503

NCBI chr 3:149,812,688...149,962,139
Ensembl chr 3:149,812,770...149,962,139

RNU4ATAC

RNA, U4atac small nuclear

ORPHA:2636

NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007

RNA, U7 small nuclear 1

OMIM:619487 ORPHA:51

NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878

ROGDI

rogdi atypical leucine zipper

OMIM:226750 ORPHA:1946

NCBI chr16:4,796,968...4,802,633
Ensembl chr16:4,796,968...4,802,880

RPIA

ribose 5-phosphate isomerase A

OMIM:608611

NCBI chr 2:88,691,673...88,750,929
Ensembl chr 2:88,691,673...88,750,929

RTTN

rotatin

OMIM:614833 ORPHA:468631

NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,205,726

RUSC2

RUN and SH3 domain containing 2

OMIM:617773

NCBI chr 9:35,490,111...35,561,895
Ensembl chr 9:35,490,111...35,561,898

sacsin molecular chaperone

OMIM:270550 ORPHA:98

NCBI chr13:23,328,830...23,433,702
Ensembl chr13:23,288,689...23,433,763

SAMHD1

SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

OMIM:612952 ORPHA:51

NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893

SATB1

SATB homeobox 1

OMIM:619228 OMIM:619229

NCBI chr 3:18,345,377...18,445,592
Ensembl chr 3:18,345,377...18,445,621

SCAPER

S-phase cyclin A associated protein in the ER

NCBI chr15:76,347,904...76,905,340
Ensembl chr15:76,347,904...76,905,444

SCLT1

sodium channel and clathrin linker 1

NCBI chr 4:128,873,241...129,093,539
Ensembl chr 4:128,864,921...129,093,600

SCN1B

sodium voltage-gated channel beta subunit 1

OMIM:617350 ORPHA:1934

NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449

SCN2A

sodium voltage-gated channel alpha subunit 2

NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310

SCN3A

sodium voltage-gated channel alpha subunit 3

NCBI chr 2:165,087,526...165,204,050
Ensembl chr 2:165,087,526...165,204,050

SCN8A

sodium voltage-gated channel alpha subunit 8

NCBI chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864

SCYL1

SCY1 like pseudokinase 1

OMIM:616719 ORPHA:466794

NCBI chr11:65,525,083...65,538,704
Ensembl chr11:65,525,077...65,538,704

SCYL2

SCY1 like pseudokinase 2

OMIM:618766

NCBI chr12:100,267,177...100,341,715
Ensembl chr12:100,267,140...100,341,715

SDCCAG8

SHH signaling and ciliogenesis regulator SDCCAG8

NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091

SDHA

succinate dehydrogenase complex flavoprotein subunit A

OMIM:252011 ORPHA:3208

NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082

succinate dehydrogenase complex assembly factor 1

NCBI chr19:35,995,188...35,996,312
Ensembl chr19:35,995,188...35,996,312

SDHB

succinate dehydrogenase complex iron sulfur subunit B

OMIM:619224 ORPHA:3208

NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151

SDHD

succinate dehydrogenase complex subunit D

NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016

SEPSECS

Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase

ORPHA:2524

NCBI chr 4:25,120,014...25,160,582
Ensembl chr 4:25,120,014...25,160,550

SERAC1

serine active site containing 1

OMIM:614739

NCBI chr 6:158,109,519...158,168,262
Ensembl chr 6:158,109,519...158,168,280

SETBP1

SET binding protein 1

ORPHA:798

NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510

SHH

sonic hedgehog signaling molecule

NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463

SIK1

salt inducible kinase 1

NCBI chr21:43,414,483...43,427,131
Ensembl chr21:43,414,483...43,427,131

SIL1

SIL1 nucleotide exchange factor

OMIM:248800 ORPHA:559

NCBI chr 5:138,946,724...139,198,368
Ensembl chr 5:138,946,724...139,293,557

SIX3

SIX homeobox 3

NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071

SLC12A2

solute carrier family 12 member 2

OMIM:619083

NCBI chr 5:128,083,766...128,189,677
Ensembl chr 5:128,083,766...128,189,677

SLC12A6

solute carrier family 12 member 6

OMIM:620068

NCBI chr15:34,229,784...34,338,057
Ensembl chr15:34,229,784...34,338,060

SLC13A5

solute carrier family 13 member 5

OMIM:615905 ORPHA:1946 ORPHA:442835

NCBI chr17:6,684,719...6,713,369
Ensembl chr17:6,684,719...6,713,377

SLC16A2

solute carrier family 16 member 2

ORPHA:59

NCBI chr X:74,421,493...74,533,916
Ensembl chr X:74,421,493...74,533,917

SLC17A5

solute carrier family 17 member 5

OMIM:604369

NCBI chr 6:73,593,379...73,653,992
Ensembl chr 6:73,593,379...73,653,992

SLC1A2

solute carrier family 1 member 2

OMIM:617105 ORPHA:442835

NCBI chr11:35,251,205...35,420,507
Ensembl chr11:35,251,205...35,420,063

SLC1A4

solute carrier family 1 member 4

OMIM:616657

NCBI chr 2:64,988,479...65,023,865
Ensembl chr 2:64,988,477...65,023,865

SLC25A10

solute carrier family 25 member 10

OMIM:618972

NCBI chr17:81,712,284...81,721,012
Ensembl chr17:81,712,236...81,721,016

SLC25A12

solute carrier family 25 member 12

OMIM:612949

NCBI chr 2:171,783,405...171,894,244
Ensembl chr 2:171,783,405...171,999,859

solute carrier family 25 member 15

OMIM:238970

NCBI chr13:40,789,611...40,812,460
Ensembl chr13:40,789,412...40,812,460

SLC25A22

solute carrier family 25 member 22

OMIM:609304 ORPHA:1934

NCBI chr11:790,475...798,281
Ensembl chr11:790,475...798,281

SLC25A46

solute carrier family 25 member 46

ORPHA:2254

NCBI chr 5:110,738,145...110,765,157
Ensembl chr 5:110,738,136...110,765,161

SLC2A1

solute carrier family 2 member 1

OMIM:606777 OMIM:608885 ORPHA:71277

NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893

SLC32A1

solute carrier family 32 member 1

NCBI chr20:38,724,486...38,729,372
Ensembl chr20:38,724,486...38,729,372

SLC38A3

solute carrier family 38 member 3

NCBI chr 3:50,205,271...50,221,486
Ensembl chr 3:50,205,246...50,221,486

SLC39A14

solute carrier family 39 member 14

OMIM:617013 ORPHA:521406

NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129

SLC5A6

solute carrier family 5 member 6

OMIM:618973

NCBI chr 2:27,199,587...27,212,787
Ensembl chr 2:27,199,587...27,212,958

SLC6A5

solute carrier family 6 member 5

NCBI chr11:20,599,608...20,659,285
Ensembl chr11:20,599,594...20,659,285

SLC6A8

solute carrier family 6 member 8

OMIM:300352

NCBI chr X:153,687,926...153,696,593
Ensembl chr X:153,687,926...153,696,588

SLITRK2

SLIT and NTRK like family member 2

OMIM:301107

NCBI chr X:145,817,829...145,829,856
Ensembl chr X:145,817,829...145,829,856

SMC1A

structural maintenance of chromosomes 1A

ORPHA:220386 ORPHA:3095

NCBI chr X:53,374,149...53,422,728
Ensembl chr X:53,374,149...53,422,728

SMPD1

sphingomyelin phosphodiesterase 1

OMIM:257200

NCBI chr11:6,390,474...6,394,996
Ensembl chr11:6,390,440...6,394,998

SNAPC4

small nuclear RNA activating complex polypeptide 4

OMIM:620515

NCBI chr 9:136,375,571...136,400,170
Ensembl chr 9:136,375,567...136,400,176

SNCA

synuclein alpha

ORPHA:171695 ORPHA:2828

NCBI chr 4:89,724,099...89,838,304
Ensembl chr 4:89,700,345...89,838,315

SNORD118

small nucleolar RNA, C/D box 118

OMIM:614561 ORPHA:542310

NCBI chr17:8,173,452...8,173,588
Ensembl chr17:8,173,454...8,173,587

SNX14

sorting nexin 14

OMIM:616354 ORPHA:397709

NCBI chr 6:85,505,496...85,593,858
Ensembl chr 6:85,504,776...85,594,156

SOD1

superoxide dismutase 1

NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931

SON

SON DNA and RNA binding protein

OMIM:617140 ORPHA:500150

NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481

SOX10

SRY-box transcription factor 10

OMIM:609136 ORPHA:163746

NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422

spartin

NCBI chr13:36,301,638...36,370,180
Ensembl chr13:36,301,638...36,370,180

spastin

ClinVar Annotator: match by term: Spasticity

PMID:10699187 PMID:11809724 PMID:11843700 PMID:15841487 PMID:20214791 More...

ORPHA:100985

NCBI chr 2:32,063,556...32,157,637
Ensembl chr 2:32,063,556...32,157,637

SPG11 vesicle trafficking associated, spatacsin

OMIM:602099 OMIM:616668

NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688

SPG21

SPG21 abhydrolase domain containing, maspardin

ORPHA:101001

NCBI chr15:64,963,022...64,989,914
Ensembl chr15:64,963,022...64,990,310

SPG7 matrix AAA peptidase subunit, paraplegin

ORPHA:35689

NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766

SPR

sepiapterin reductase

OMIM:612716

NCBI chr 2:72,887,408...72,892,158
Ensembl chr 2:72,887,382...72,892,158

spectrin alpha, non-erythrocytic 1

OMIM:620540

NCBI chr 9:128,552,587...128,633,662
Ensembl chr 9:128,552,558...128,633,662

spectrin beta, non-erythrocytic 1

NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446

SPTBN2

spectrin beta, non-erythrocytic 2

OMIM:615386 ORPHA:352403

NCBI chr11:66,682,497...66,744,682
Ensembl chr11:66,682,496...66,744,670

sequestosome 1

NCBI chr 5:179,806,393...179,838,078
Ensembl chr 5:179,806,398...179,838,078

SRD5A3

steroid 5 alpha-reductase 3

OMIM:612379

NCBI chr 4:55,346,242...55,373,100
Ensembl chr 4:55,346,213...55,373,100

SRPX2

sushi repeat containing protein X-linked 2

NCBI chr X:100,644,199...100,675,788
Ensembl chr X:100,644,195...100,675,788

STAG2

STAG2 cohesin complex component

ORPHA:220386 ORPHA:93925

NCBI chr X:123,960,560...124,102,656
Ensembl chr X:123,960,212...124,422,664

STIL

STIL centriolar assembly protein

NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892

STN1

STN1 subunit of CST complex

OMIM:617341

NCBI chr10:103,877,569...103,918,184
Ensembl chr10:103,856,806...103,918,332

STUB1

STIP1 homology and U-box containing protein 1

OMIM:615768

NCBI chr16:680,410...682,801
Ensembl chr16:680,224...682,870

syntaxin 1A

NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672

syntaxin binding protein 1

ClinVar Annotator: match by term: Spasticity

ORPHA:599373

NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027

SUCLA2

succinate-CoA ligase ADP-forming subunit beta

OMIM:612073

NCBI chr13:47,942,656...48,001,273
Ensembl chr13:47,745,736...48,037,968

SUMF1

sulfatase modifying factor 1

OMIM:272200

NCBI chr 3:4,034,486...4,467,269
Ensembl chr 3:3,700,814...4,467,273

SUZ12

SUZ12 polycomb repressive complex 2 subunit

ORPHA:3447

NCBI chr17:31,937,007...32,001,038
Ensembl chr17:31,937,007...32,001,038

SVBP

small vasohibin binding protein

OMIM:618569

NCBI chr 1:42,807,052...42,817,397
Ensembl chr 1:42,807,052...42,817,397

SYNE1

spectrin repeat containing nuclear envelope protein 1

OMIM:610743 ORPHA:88644

NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801

SYNGAP1

synaptic Ras GTPase activating protein 1

NCBI chr 6:33,418,167...33,453,689
Ensembl chr 6:33,419,661...33,453,689

SYNJ1

synaptojanin 1

ORPHA:2828 ORPHA:442835

NCBI chr21:32,628,759...32,728,394
Ensembl chr21:32,628,759...32,728,040

SZT2

SZT2 subunit of KICSTOR complex

NCBI chr 1:43,389,899...43,454,247
Ensembl chr 1:43,389,882...43,454,247

TAF1

TATA-box binding protein associated factor 1

OMIM:300966

NCBI chr X:71,366,357...71,530,525
Ensembl chr X:71,366,136...71,532,374

TAF15

TATA-box binding protein associated factor 15

NCBI chr17:35,809,484...35,847,242
Ensembl chr17:35,809,482...35,864,615

TAF2

TATA-box binding protein associated factor 2

OMIM:615599 ORPHA:397951

NCBI chr 8:119,730,774...119,832,841
Ensembl chr 8:119,730,774...119,832,863

TAF4

TATA-box binding protein associated factor 4

OMIM:620450

NCBI chr20:61,974,798...62,065,881
Ensembl chr20:61,953,469...62,065,881

TARDBP

TAR DNA binding protein

OMIM:612069 ORPHA:803

NCBI chr 1:11,012,654...11,030,528
Ensembl chr 1:11,012,344...11,030,528

TARS1

threonyl-tRNA synthetase 1

NCBI chr 5:33,440,696...33,468,091
Ensembl chr 5:33,440,696...33,468,091

TBC1D20

TBC1 domain family member 20

NCBI chr20:435,480...462,533
Ensembl chr20:423,596...462,566

TBC1D23

TBC1 domain family member 23

OMIM:617695

NCBI chr 3:100,260,992...100,325,238
Ensembl chr 3:100,260,992...100,325,251

tubulin folding cofactor D

ORPHA:496641

NCBI chr17:82,752,065...82,945,914
Ensembl chr17:82,752,042...82,945,914

tubulin folding cofactor E

OMIM:617207

NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443

TBK1

TANK binding kinase 1

NCBI chr12:64,452,120...64,502,114
Ensembl chr12:64,452,090...64,502,114

TBL2

transducin beta like 2

NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791

TBP

TATA-box binding protein

ORPHA:98759

NCBI chr 6:170,554,369...170,572,859
Ensembl chr 6:170,554,302...170,572,870

TCF20

transcription factor 20

OMIM:618430

NCBI chr22:42,160,013...42,343,537
Ensembl chr22:42,160,013...42,343,616

TCTN2

tectonic family member 2

OMIM:616654

NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399

TELO2

telomere maintenance 2

OMIM:616954 ORPHA:488642

NCBI chr16:1,493,360...1,510,454
Ensembl chr16:1,493,344...1,510,457

TFG

trafficking from ER to golgi regulator

ORPHA:431329

NCBI chr 3:100,709,290...100,748,967
Ensembl chr 3:100,709,295...100,748,964

TGFB1

transforming growth factor beta 1

OMIM:618213

NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922

TGIF1

TGFB induced factor homeobox 1

NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978

THOC2

THO complex subunit 2

OMIM:300957

NCBI chr X:123,600,569...123,733,052
Ensembl chr X:123,600,561...123,733,056

TIMM50

translocase of inner mitochondrial membrane 50

OMIM:617698 ORPHA:505216

NCBI chr19:39,480,838...39,493,779
Ensembl chr19:39,480,412...39,493,785

TIMM8A

translocase of inner mitochondrial membrane 8A

OMIM:304700

NCBI chr X:101,345,661...101,348,742
Ensembl chr X:101,345,661...101,348,742

TMEM231

transmembrane protein 231

ORPHA:2752

NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289

TMEM270

transmembrane protein 270

NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890

TMEM67

transmembrane protein 67

OMIM:216360

NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234

tenascin R

NCBI chr 1:175,315,194...175,743,595
Ensembl chr 1:175,315,194...175,743,595

TOE1

target of EGR1, exonuclease

OMIM:614969 ORPHA:284339

NCBI chr 1:45,340,170...45,343,973
Ensembl chr 1:45,340,052...45,343,973

TP53RK

TP53 regulating kinase

OMIM:617730

NCBI chr20:46,684,365...46,689,444
Ensembl chr20:46,684,365...46,689,444

TPI1

triosephosphate isomerase 1

OMIM:615512

NCBI chr12:6,867,420...6,870,948
Ensembl chr12:6,867,119...6,870,948

TPK1

thiamin pyrophosphokinase 1

OMIM:614458

NCBI chr 7:144,451,941...144,836,437
Ensembl chr 7:144,451,941...144,836,395

TPP1

tripeptidyl peptidase 1

NCBI chr11:6,612,768...6,619,422
Ensembl chr11:6,612,768...6,619,448

TPRKB

TP53RK binding protein

OMIM:617731

NCBI chr 2:73,729,873...73,737,345
Ensembl chr 2:73,729,104...73,737,400

TRAK1

trafficking kinesin protein 1

OMIM:618201 ORPHA:442835

NCBI chr 3:42,013,093...42,225,890
Ensembl chr 3:42,013,802...42,225,890

TRAPPC12

trafficking protein particle complex subunit 12

ORPHA:500144

NCBI chr 2:3,379,694...3,479,565
Ensembl chr 2:3,379,675...3,485,094

TREM2

triggering receptor expressed on myeloid cells 2

ORPHA:2770 ORPHA:803

NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186

TREX1

three prime repair exonuclease 1

OMIM:225750 ORPHA:51

NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645

TRIM32

tripartite motif containing 32

NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300

TRIM8

tripartite motif containing 8

NCBI chr10:102,644,479...102,658,319
Ensembl chr10:102,642,503...102,658,318

TRIT1

tRNA isopentenyltransferase 1

OMIM:617873

NCBI chr 1:39,838,110...39,883,511
Ensembl chr 1:39,838,110...39,883,511

TRMT5

tRNA methyltransferase 5

OMIM:616539

NCBI chr14:60,971,441...60,981,690
Ensembl chr14:60,971,441...60,981,170

TSEN15

tRNA splicing endonuclease subunit 15

ORPHA:2524

NCBI chr 1:184,051,730...184,097,485
Ensembl chr 1:184,051,651...184,123,978

TSEN2

tRNA splicing endonuclease subunit 2

OMIM:612389 ORPHA:2524

NCBI chr 3:12,480,231...12,539,624
Ensembl chr 3:12,484,421...12,541,549

TSEN34

tRNA splicing endonuclease subunit 34

ORPHA:2524

NCBI chr19:54,189,441...54,194,532
Ensembl chr19:54,189,938...54,194,536

TSEN54

tRNA splicing endonuclease subunit 54

OMIM:225753 ORPHA:2524

NCBI chr17:75,516,528...75,524,735
Ensembl chr17:75,515,944...75,524,735

TTC8

tetratricopeptide repeat domain 8

NCBI chr14:88,824,153...88,881,079
Ensembl chr14:88,824,153...88,881,078

transthyretin

NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833

tubulin alpha 1a

NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,324

TUBB3

tubulin beta 3 class III

OMIM:614039 ORPHA:300570

NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761

TUBB4A

tubulin beta 4A class IVa

OMIM:612438

NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848

TUBGCP2

tubulin gamma complex component 2

OMIM:618737

NCBI chr10:133,278,635...133,312,337
Ensembl chr10:133,278,635...133,318,823

TUFM

Tu translation elongation factor, mitochondrial

OMIM:610678

NCBI chr16:28,842,411...28,846,348
Ensembl chr16:28,842,411...28,846,348

thioredoxin 2

NCBI chr22:36,467,046...36,481,640
Ensembl chr22:36,467,046...36,481,640

TYROBP

transmembrane immune signaling adaptor TYROBP

OMIM:221770 ORPHA:2770

NCBI chr19:35,904,403...35,908,295
Ensembl chr19:35,904,401...35,908,295

UBA5

ubiquitin like modifier activating enzyme 5

OMIM:617132 ORPHA:442835

NCBI chr 3:132,654,430...132,679,794
Ensembl chr 3:132,654,446...132,679,794

ubiquilin 2

NCBI chr X:56,563,627...56,567,868
Ensembl chr X:56,563,627...56,567,868

UBTF

upstream binding transcription factor

OMIM:617672 ORPHA:500180

NCBI chr17:44,205,040...44,221,304
Ensembl chr17:44,205,033...44,221,626

UCHL1

ubiquitin C-terminal hydrolase L1

NCBI chr 4:41,256,928...41,268,455
Ensembl chr 4:41,256,413...41,268,455

UFC1

ubiquitin-fold modifier conjugating enzyme 1

OMIM:618076

NCBI chr 1:161,153,978...161,158,856
Ensembl chr 1:161,152,776...161,158,856

UFM1

ubiquitin fold modifier 1

OMIM:617899

NCBI chr13:38,349,851...38,363,619
Ensembl chr13:38,349,849...38,363,619

UGDH

UDP-glucose 6-dehydrogenase

OMIM:618792

NCBI chr 4:39,498,755...39,527,439
Ensembl chr 4:39,498,755...39,528,311

UGP2

UDP-glucose pyrophosphorylase 2

OMIM:618744

NCBI chr 2:63,840,969...63,891,560
Ensembl chr 2:63,840,952...63,891,562

unc-13 homolog A

NCBI chr19:17,601,336...17,688,354
Ensembl chr19:17,601,336...17,688,365

UNC80

unc-80 homolog, NALCN channel complex subunit

OMIM:616801

NCBI chr 2:209,771,832...209,999,296
Ensembl chr 2:209,771,569...209,999,300

VAPB

VAMP associated protein B and C

NCBI chr20:58,389,229...58,451,101
Ensembl chr20:58,389,229...58,451,101

valosin containing protein

OMIM:613954 ORPHA:803

NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668

VPS11

VPS11 core subunit of CORVET and HOPS complexes

OMIM:616683 ORPHA:466934

NCBI chr11:119,067,818...119,081,972
Ensembl chr11:119,067,818...119,081,972

VPS13C

vacuolar protein sorting 13 homolog C

OMIM:616840 ORPHA:2828

NCBI chr15:61,852,389...62,060,447
Ensembl chr15:61,852,389...62,060,473

VPS13D

vacuolar protein sorting 13 homolog D

OMIM:607317

NCBI chr 1:12,230,030...12,512,047
Ensembl chr 1:12,230,030...12,512,047

VPS37D

VPS37D subunit of ESCRT-I

NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112

VPS4A

vacuolar protein sorting 4 homolog A

OMIM:619273

NCBI chr16:69,311,350...69,326,939
Ensembl chr16:69,311,336...69,326,939

VPS53

VPS53 subunit of GARP complex

OMIM:615851

NCBI chr17:508,668...714,839
Ensembl chr17:508,503...721,717

VRK1

VRK serine/threonine kinase 1

ORPHA:2254

NCBI chr14:96,797,382...96,881,609
Ensembl chr14:96,797,304...96,954,846

WARS1

tryptophanyl-tRNA synthetase 1

OMIM:620317

NCBI chr14:100,333,790...100,376,327
Ensembl chr14:100,333,790...100,376,805

WASHC4

WASH complex subunit 4

OMIM:615817

NCBI chr12:105,107,731...105,169,130
Ensembl chr12:105,107,324...105,169,130

WASH complex subunit 5

ClinVar Annotator: match by term: Spasticity

PMID:9536098 PMID:17576681 PMID:28492532

NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819

WDPCP

WD repeat containing planar cell polarity effector

NCBI chr 2:63,119,559...63,840,826
Ensembl chr 2:63,119,559...63,827,843

WD repeat domain 4

NCBI chr21:42,843,094...42,892,998
Ensembl chr21:42,843,094...42,879,568

WD repeat domain 45B

NCBI chr17:82,614,562...82,648,444
Ensembl chr17:82,614,562...82,648,553

WDR73

WD repeat domain 73

OMIM:251300 ORPHA:83472

NCBI chr15:84,639,285...84,654,283
Ensembl chr15:84,639,285...84,654,343

WWOX

WW domain containing oxidoreductase

OMIM:614322 OMIM:616211 ORPHA:442835

NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667

XPA

XPA, DNA damage recognition and repair factor

OMIM:278700 ORPHA:910

NCBI chr 9:97,654,398...97,697,340
Ensembl chr 9:97,674,909...97,697,340

XPC

XPC complex subunit, DNA damage recognition and repair factor

ORPHA:910

NCBI chr 3:14,145,147...14,178,601
Ensembl chr 3:14,145,147...14,178,621

YIF1B

Yip1 interacting factor homolog B, membrane trafficking protein

OMIM:619125

NCBI chr19:38,303,558...38,321,887
Ensembl chr19:38,303,558...38,317,273

YWHAG

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma

ClinVar Annotator: match by term: Spasticity

PMID:25741868 PMID:28492532 PMID:31926053

NCBI chr 7:76,326,799...76,358,991
Ensembl chr 7:76,326,799...76,358,991

ZBTB11

zinc finger and BTB domain containing 11

OMIM:618383

NCBI chr 3:101,648,889...101,677,132
Ensembl chr 3:101,648,889...101,677,135

ZC4H2

zinc finger C4H2-type containing

OMIM:301041 OMIM:314580

NCBI chr X:64,915,807...65,034,741
Ensembl chr X:64,915,802...65,034,713

ZEB2

zinc finger E-box binding homeobox 2

ORPHA:261537 ORPHA:261552

NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057

zinc finger FYVE-type containing 26

ORPHA:100996

NCBI chr14:67,728,892...67,816,590
Ensembl chr14:67,727,374...67,816,590

ZIC2

Zic family member 2

NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765

ZNF335

zinc finger protein 335

OMIM:615095

NCBI chr20:45,948,660...45,972,203
Ensembl chr20:45,948,660...45,972,203

ZNF592

zinc finger protein 592

ORPHA:83472

NCBI chr15:84,748,592...84,806,445
Ensembl chr15:84,748,592...84,806,445

Appendicular spasticity

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ACER3

alkaline ceramidase 3

OMIM:617762

NCBI chr11:76,860,918...77,026,797
Ensembl chr11:76,860,859...77,026,797

AIMP1

aminoacyl tRNA synthetase complex interacting multifunctional protein 1

OMIM:260600

NCBI chr 4:106,315,544...106,349,456
Ensembl chr 4:106,315,544...106,349,456

alsin Rho guanine nucleotide exchange factor ALS2

OMIM:606353

NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112

atrophin 1

NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321

CAMLG

calcium modulating ligand

OMIM:620201

NCBI chr 5:134,738,548...134,752,157
Ensembl chr 5:134,738,495...134,752,157

dynamin 1

NCBI chr 9:128,203,379...128,255,244
Ensembl chr 9:128,191,655...128,255,248

DPH5

diphthamide biosynthesis 5

OMIM:620070

NCBI chr 1:100,989,623...101,025,784
Ensembl chr 1:100,989,623...101,026,088

fucose kinase

NCBI chr16:70,454,595...70,480,274
Ensembl chr16:70,454,595...70,480,274

glycerate kinase

NCBI chr 3:52,287,828...52,295,257
Ensembl chr 3:52,287,089...52,295,257

GTPBP2

GTP binding protein 2

OMIM:617988

NCBI chr 6:43,620,494...43,631,333
Ensembl chr 6:43,605,316...43,629,264

HECTD4

HECT domain E3 ubiquitin protein ligase 4

OMIM:620250

NCBI chr12:112,160,195...112,382,431
Ensembl chr12:112,160,188...112,382,439

kinesin family member 1A

OMIM:614255

NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293

NSRP1

nuclear speckle splicing regulatory protein 1

OMIM:620001

NCBI chr17:30,116,816...30,186,475
Ensembl chr17:30,115,521...30,186,475

NUS1

NUS1 dehydrodolichyl diphosphate synthase subunit

OMIM:617082

NCBI chr 6:117,675,469...117,710,727
Ensembl chr 6:117,675,469...117,710,727

arginyl-tRNA synthetase 2, mitochondrial

NCBI chr 6:87,513,938...87,589,987
Ensembl chr 6:87,513,459...87,590,028

SEPSECS

Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase

OMIM:613811

NCBI chr 4:25,120,014...25,160,582
Ensembl chr 4:25,120,014...25,160,550

SPTSSA

serine palmitoyltransferase small subunit A

OMIM:620416 OMIM:620417

NCBI chr14:34,432,788...34,462,240
Ensembl chr14:34,432,788...34,462,240

TEFM

transcription elongation factor, mitochondrial

OMIM:620451

NCBI chr17:30,898,986...30,906,238
Ensembl chr17:30,897,336...30,906,238

TMTC3

transmembrane O-mannosyltransferase targeting cadherins 3

OMIM:617255

NCBI chr12:88,142,307...88,199,887
Ensembl chr12:88,142,296...88,199,887

TRAPPC12

trafficking protein particle complex subunit 12

OMIM:617669

NCBI chr 2:3,379,694...3,479,565
Ensembl chr 2:3,379,675...3,485,094

TSEN15

tRNA splicing endonuclease subunit 15

OMIM:617026

NCBI chr 1:184,051,730...184,097,485
Ensembl chr 1:184,051,651...184,123,978

Lower limb spasticity

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ATP binding cassette subfamily D member 1

ORPHA:139396

NCBI chr X:153,724,856...153,744,755
Ensembl chr X:153,724,856...153,744,755

actin beta

NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902

actin like 6B

NCBI chr 7:100,643,097...100,656,448
Ensembl chr 7:100,643,097...100,656,448

ADGRG1

adhesion G protein-coupled receptor G1

NCBI chr16:57,619,738...57,665,567
Ensembl chr16:57,610,652...57,665,580

aldehyde dehydrogenase 18 family member A1

OMIM:601162

NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711

ALG9

ALG9 alpha-1,2-mannosyltransferase

ORPHA:79328

NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581

alsin Rho guanine nucleotide exchange factor ALS2

NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112

adaptor related protein complex 5 subunit zeta 1

OMIM:613647 ORPHA:306511

NCBI chr 7:4,775,623...4,794,397
Ensembl chr 7:4,775,615...4,794,397

arylsulfatase family member I

ORPHA:401815

NCBI chr 5:150,296,343...150,302,905
Ensembl chr 5:150,296,343...150,339,307

aristaless related homeobox

OMIM:309510 ORPHA:94083

NCBI chr X:25,003,694...25,015,965
Ensembl chr X:25,003,694...25,016,420

ATL1

atlastin GTPase 1

OMIM:182600 ORPHA:100984

NCBI chr14:50,533,082...50,633,068
Ensembl chr14:50,532,509...50,634,017

ATP6V0A1

ATPase H+ transporting V0 subunit a1

ClinVar Annotator: match by term: Lower limb spasticity

PMID:25741868 PMID:28135719 PMID:28492532 PMID:33833240 PMID:34909687

NCBI chr17:42,458,878...42,522,579
Ensembl chr17:42,458,844...42,522,582

ataxin 10

NCBI chr22:45,671,834...45,845,307
Ensembl chr22:45,671,798...45,845,307

beta-1,4-N-acetyl-galactosaminyltransferase 1

OMIM:609195 ORPHA:101006

NCBI chr12:57,623,409...57,633,201
Ensembl chr12:57,623,409...57,633,239

BICD cargo adaptor 2

NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833

BSCL2 lipid droplet biogenesis associated, seipin

OMIM:270685

NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845

CACNA1C

calcium voltage-gated channel subunit alpha1 C

OMIM:620029

NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950

CAMK2B

calcium/calmodulin dependent protein kinase II beta

OMIM:617799

NCBI chr 7:44,217,154...44,326,013
Ensembl chr 7:44,210,019...44,334,577

CAPN1

calpain 1

OMIM:616907 ORPHA:488594

NCBI chr11:65,181,373...65,212,006
Ensembl chr11:65,180,566...65,212,006

chaperonin containing TCP1 subunit 5

OMIM:256840

NCBI chr 5:10,249,921...10,266,412
Ensembl chr 5:10,249,929...10,266,389

CLCN4

chloride voltage-gated channel 4

OMIM:300114 ORPHA:485350

NCBI chr X:10,156,975...10,237,660
Ensembl chr X:10,156,975...10,237,660

clathrin heavy chain

NCBI chr17:59,619,895...59,696,956
Ensembl chr17:59,619,680...59,696,956

CNTNAP2

contactin associated protein 2

ORPHA:163681

NCBI chr 7:146,116,801...148,420,998
Ensembl chr 7:146,116,002...148,420,998

COQ5

coenzyme Q5, methyltransferase

OMIM:619028

NCBI chr12:120,503,279...120,529,158
Ensembl chr12:120,503,279...120,534,434

COX15

cytochrome c oxidase assembly homolog COX15

OMIM:615119

NCBI chr10:99,694,293...99,732,127
Ensembl chr10:99,710,868...99,732,127

carnitine palmitoyltransferase 1C

NCBI chr19:49,690,662...49,713,731
Ensembl chr19:49,690,898...49,713,731

cytochrome P450 family 7 subfamily B member 1

OMIM:270800 ORPHA:100986

NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737

DARS1

aspartyl-tRNA synthetase 1

OMIM:615281

NCBI chr 2:135,905,881...135,985,684
Ensembl chr 2:135,905,881...135,986,100

DDHD domain containing 1

OMIM:609340 ORPHA:101008

NCBI chr14:53,036,755...53,153,323
Ensembl chr14:53,036,745...53,153,323

DNAJC19

DnaJ heat shock protein family (Hsp40) member C19

ORPHA:66634

NCBI chr 3:180,983,709...180,989,838
Ensembl chr 3:180,983,697...180,989,774

EIF2AK1

eukaryotic translation initiation factor 2 alpha kinase 1

OMIM:618878

NCBI chr 7:6,022,247...6,059,175
Ensembl chr 7:6,022,247...6,059,175

ERCC1

ERCC excision repair 1, endonuclease non-catalytic subunit

ORPHA:90322

NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828

ERCC4

ERCC excision repair 4, endonuclease catalytic subunit

ORPHA:90321

NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348

ERCC6

ERCC excision repair 6, chromatin remodeling factor

ORPHA:90321 ORPHA:90322

NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538

ERCC8

ERCC excision repair 8, CSA ubiquitin ligase complex subunit

ORPHA:90321 ORPHA:90322

NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073

ERLIN1

ER lipid raft associated 1

OMIM:615681 ORPHA:401785

NCBI chr10:100,150,094...100,186,029
Ensembl chr10:100,150,094...100,186,033

ER lipid raft associated 2

OMIM:611225 OMIM:620512

NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422

fatty acid 2-hydroxylase

OMIM:612319 ORPHA:171629

NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831

phenylalanyl-tRNA synthetase 2, mitochondrial

ORPHA:466722

NCBI chr 6:5,249,934...5,771,583
Ensembl chr 6:5,261,044...5,829,192

F-box protein 7

NCBI chr22:32,474,811...32,498,829
Ensembl chr22:32,474,676...32,498,829

FUS RNA binding protein

NCBI chr16:31,180,110...31,194,871
Ensembl chr16:31,180,138...31,196,963

GALC

galactosylceramidase

ORPHA:206436 ORPHA:206443

NCBI chr14:87,933,014...87,993,667
Ensembl chr14:87,837,820...87,993,665

GAMT

guanidinoacetate N-methyltransferase

OMIM:612736

NCBI chr19:1,397,026...1,401,542
Ensembl chr19:1,397,026...1,401,570

GATAD2B

GATA zinc finger domain containing 2B

ORPHA:363686

NCBI chr 1:153,804,725...153,922,972
Ensembl chr 1:153,789,030...153,923,360

glucosylceramidase beta 2

OMIM:614409 ORPHA:320391 ORPHA:352641

NCBI chr 9:35,736,866...35,749,228
Ensembl chr 9:35,736,866...35,749,228

GFM2

GTP dependent ribosome recycling factor mitochondrial 2

ORPHA:565624

NCBI chr 5:74,721,206...74,767,117
Ensembl chr 5:74,721,206...74,767,147

gap junction protein gamma 2

OMIM:613206 ORPHA:320401

NCBI chr 1:228,149,930...228,159,826
Ensembl chr 1:228,149,930...228,159,826

GPRC5B

G protein-coupled receptor class C group 5 member B

OMIM:620447

NCBI chr16:19,856,691...19,885,634
Ensembl chr16:19,856,691...19,886,167

H4 clustered histone 5

NCBI chr 6:26,204,610...26,205,021
Ensembl chr 6:26,204,610...26,205,021

HACE1

HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1

OMIM:616756 ORPHA:464282

NCBI chr 6:104,728,094...104,859,919
Ensembl chr 6:104,728,094...104,859,919

HEPACAM

hepatic and glial cell adhesion molecule

OMIM:613925

NCBI chr11:124,919,205...124,936,047
Ensembl chr11:124,919,205...124,936,412

HIKESHI

heat shock protein nuclear import factor hikeshi

OMIM:616881

NCBI chr11:86,302,240...86,345,943
Ensembl chr11:86,302,211...86,345,943

heat shock protein family D (Hsp60) member 1

OMIM:605280 ORPHA:100994

NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737

interferon induced with helicase C domain 1

OMIM:615846

NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684

INPP5K

inositol polyphosphate-5-phosphatase K

OMIM:617404

NCBI chr17:1,494,577...1,516,612
Ensembl chr17:1,494,577...1,516,742

kinesin family member 1A

OMIM:610357 ORPHA:101010

NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293

kinesin family member 5A

PMID:18245137 PMID:12355402 PMID:15452312

DNA:missense mutation, deletion, snp:cds:p.K253N, p.N256del c.217G>A
DNA:missense mutation:cds:p.N256S
DNA:missense mutation:cds:p.R280C

HPO
RGD

OMIM:604187 ORPHA:100991, RGD:12793061, RGD:12793065, RGD:12859091

NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633

KPNA3

karyopherin subunit alpha 3

OMIM:620106 ORPHA:171612

NCBI chr13:49,699,320...49,792,682
Ensembl chr13:49,699,320...49,792,682

kyphoscoliosis peptidase

ORPHA:496689

NCBI chr 3:134,599,923...134,651,022
Ensembl chr 3:134,599,923...134,651,636

L1CAM

L1 cell adhesion molecule

OMIM:303350

NCBI chr X:153,861,514...153,886,173
Ensembl chr X:153,861,514...153,886,173

methionyl-tRNA synthetase 1

ORPHA:401835

NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569

methyl-CpG binding protein 2

OMIM:300260 ORPHA:3077

NCBI chr X:154,021,573...154,097,717
Ensembl chr X:154,021,573...154,137,103

MRE11

MRE11 homolog, double strand break repair nuclease

OMIM:604391

NCBI chr11:94,415,570...94,512,412
Ensembl chr11:94,415,570...94,493,885

mitochondrially encoded ATP synthase membrane subunit 6

ORPHA:320360

NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207

MTHFR

methylenetetrahydrofolate reductase

ClinVar Annotator: match by term: Lower limb spasticity

ORPHA:395

NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455

mitochondrial translation release factor in rescue

OMIM:615035 ORPHA:320375

NCBI chr12:123,232,914...123,257,960
Ensembl chr12:123,233,385...123,258,079

NDUFA13

NADH:ubiquinone oxidoreductase subunit A13

OMIM:618249

NCBI chr19:19,516,225...19,528,198
Ensembl chr19:19,515,736...19,529,054

neuraminidase 1

NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,659...31,862,905

NEXMIF

neurite extension and migration factor

OMIM:300912

NCBI chr X:74,732,856...74,925,452
Ensembl chr X:74,732,856...74,925,472

NIPA1

NIPA magnesium transporter 1

OMIM:600363 ORPHA:100988

NCBI chr15:22,786,225...22,829,789
Ensembl chr15:22,773,063...22,829,789

NT5C2

5'-nucleotidase, cytosolic II

OMIM:613162 ORPHA:320396

NCBI chr10:103,088,017...103,193,272
Ensembl chr10:103,087,185...103,277,605

ODC1

ornithine decarboxylase 1

OMIM:619075

NCBI chr 2:10,439,968...10,448,327
Ensembl chr 2:10,439,968...10,448,327

PEX16

peroxisomal biogenesis factor 16

OMIM:614877

NCBI chr11:45,909,663...45,918,822
Ensembl chr11:45,909,663...45,918,812

post-GPI attachment to proteins inositol deacylase 1

ORPHA:401820

NCBI chr 2:196,833,004...196,926,707
Ensembl chr 2:196,833,004...196,927,796

phosphatidylinositol 4-kinase alpha

NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417

PIGA

phosphatidylinositol glycan anchor biosynthesis class A

OMIM:300868

NCBI chr X:15,319,451...15,335,554
Ensembl chr X:15,319,452...15,335,554

proteolipid protein 1

OMIM:312920 ORPHA:280210 ORPHA:280229

NCBI chr X:103,776,506...103,792,619
Ensembl chr X:103,773,718...103,792,619

patatin like phospholipase domain containing 6

ORPHA:139480

NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764

POLR1A

RNA polymerase I subunit A

OMIM:616462

NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155

PRRT2

proline rich transmembrane protein 2

ORPHA:98811

NCBI chr16:29,812,193...29,815,881
Ensembl chr16:29,811,382...29,815,892

prosaposin

NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251

RAB18

RAB18, member RAS oncogene family

OMIM:614222

NCBI chr10:27,504,304...27,542,239
Ensembl chr10:27,504,174...27,543,207

RAB3 GTPase activating non-catalytic protein subunit 2

ORPHA:401830

NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529

RARS1

arginyl-tRNA synthetase 1

OMIM:616140 ORPHA:438114

NCBI chr 5:168,486,471...168,519,301
Ensembl chr 5:168,486,451...168,519,301

arginyl-tRNA synthetase 2, mitochondrial

NCBI chr 6:87,513,938...87,589,987
Ensembl chr 6:87,513,459...87,590,028

receptor accessory protein 1

OMIM:610250

NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083

REPS1

RALBP1 associated Eps domain containing 1

OMIM:617916

NCBI chr 6:138,903,493...138,988,253
Ensembl chr 6:138,903,493...138,988,261

RNF170

ring finger protein 170

OMIM:619686

NCBI chr 8:42,849,637...42,897,299
Ensembl chr 8:42,849,637...42,897,290

RTN2

reticulon 2

OMIM:604805 ORPHA:100993

NCBI chr19:45,485,294...45,497,047
Ensembl chr19:45,485,294...45,497,055

sacsin molecular chaperone

ORPHA:98

NCBI chr13:23,328,830...23,433,702
Ensembl chr13:23,288,689...23,433,763

SATB homeobox 1

NCBI chr 3:18,345,377...18,445,592
Ensembl chr 3:18,345,377...18,445,621

SATB homeobox 2

NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266

selenoprotein I

NCBI chr 2:26,346,143...26,395,885
Ensembl chr 2:26,308,547...26,395,885

sigma non-opioid intracellular receptor 1

OMIM:614373 ORPHA:300605

NCBI chr 9:34,634,722...34,637,787
Ensembl chr 9:34,634,722...34,637,844

SLC1A4

solute carrier family 1 member 4

ORPHA:447997

NCBI chr 2:64,988,479...65,023,865
Ensembl chr 2:64,988,477...65,023,865

SLC2A1

solute carrier family 2 member 1

ORPHA:98811

NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893

solute carrier family 33 member 1

ORPHA:171863

NCBI chr 3:155,821,024...155,854,427
Ensembl chr 3:155,821,024...155,854,456

SOD1

superoxide dismutase 1

OMIM:618598

NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931

spartin

NCBI chr13:36,301,638...36,370,180
Ensembl chr13:36,301,638...36,370,180

spastin

OMIM:182601 ORPHA:100985

NCBI chr 2:32,063,556...32,157,637
Ensembl chr 2:32,063,556...32,157,637

SPG11 vesicle trafficking associated, spatacsin

OMIM:604360 ORPHA:300605

NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688

SPG7 matrix AAA peptidase subunit, paraplegin

OMIM:607259

NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766

serine palmitoyltransferase long chain base subunit 1

OMIM:620285 ORPHA:300605

NCBI chr 9:92,031,147...92,115,413
Ensembl chr 9:92,000,087...92,115,413

SRPX2

sushi repeat containing protein X-linked 2

NCBI chr X:100,644,199...100,675,788
Ensembl chr X:100,644,195...100,675,788

STUB1

STIP1 homology and U-box containing protein 1

ORPHA:412057

NCBI chr16:680,410...682,801
Ensembl chr16:680,224...682,870

SVBP

small vasohibin binding protein

ClinVar Annotator: match by term: Lower limb spasticity

PMID:25741868 PMID:30607023 PMID:31363758

NCBI chr 1:42,807,052...42,817,397
Ensembl chr 1:42,807,052...42,817,397

SYNE1

spectrin repeat containing nuclear envelope protein 1

ORPHA:88644

NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801

tubulin folding cofactor D

OMIM:617193

NCBI chr17:82,752,065...82,945,914
Ensembl chr17:82,752,042...82,945,914

TCEAL1

transcription elongation factor A like 1

OMIM:301094

NCBI chr X:103,628,716...103,630,953
Ensembl chr X:103,628,704...103,630,953

TFG

trafficking from ER to golgi regulator

OMIM:615658

NCBI chr 3:100,709,290...100,748,967
Ensembl chr 3:100,709,295...100,748,964

TMEM63C

transmembrane protein 63C

OMIM:619966

NCBI chr14:77,181,798...77,259,495
Ensembl chr14:77,116,568...77,259,495

TPK1

thiamin pyrophosphokinase 1

OMIM:614458

NCBI chr 7:144,451,941...144,836,437
Ensembl chr 7:144,451,941...144,836,395

TSPOAP1

TSPO associated protein 1

OMIM:620453

NCBI chr17:58,301,231...58,328,795
Ensembl chr17:58,301,228...58,328,795

TTI1

TELO2 interacting protein 1

OMIM:620445

NCBI chr20:37,983,021...38,033,456
Ensembl chr20:37,983,007...38,033,461

ubiquitin associated protein 1

OMIM:618418 ORPHA:100993

NCBI chr 9:34,179,005...34,252,523
Ensembl chr 9:34,179,005...34,252,523

UBE4A

ubiquitination factor E4A

OMIM:619639

NCBI chr11:118,359,600...118,399,211
Ensembl chr11:118,359,600...118,399,211

UCHL1

ubiquitin C-terminal hydrolase L1

OMIM:615491 OMIM:620221

NCBI chr 4:41,256,928...41,268,455
Ensembl chr 4:41,256,413...41,268,455

USP8

ubiquitin specific peptidase 8

ORPHA:401795

NCBI chr15:50,424,405...50,514,421
Ensembl chr15:50,424,380...50,514,421

vesicle associated membrane protein 1

ORPHA:251282

NCBI chr12:6,462,237...6,470,677
Ensembl chr12:6,462,237...6,470,677

valosin containing protein

OMIM:613954

NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668

VPS41

VPS41 subunit of HOPS complex

OMIM:619389

NCBI chr 7:38,722,974...38,909,191
Ensembl chr 7:38,722,974...38,932,394

VWA3B

von Willebrand factor A domain containing 3B

OMIM:616948

NCBI chr 2:98,087,167...98,330,616
Ensembl chr 2:98,087,116...98,313,299

WASH complex subunit 5

ClinVar Annotator: match by term: Lower limb spasticity

OMIM:603563 ORPHA:100989

NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819

WD repeat domain 48

NCBI chr 3:39,052,016...39,096,664
Ensembl chr 3:39,052,013...39,096,671

WWOX

WW domain containing oxidoreductase

OMIM:614322

NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667

ZFR

zinc finger RNA binding protein

ORPHA:401840

NCBI chr 5:32,354,350...32,444,740
Ensembl chr 5:32,354,350...32,444,740

zinc finger FYVE-type containing 26

OMIM:270700 ORPHA:100996

NCBI chr14:67,728,892...67,816,590
Ensembl chr14:67,727,374...67,816,590

zinc finger FYVE-type containing 27

OMIM:610244

NCBI chr10:97,737,128...97,760,895
Ensembl chr10:97,737,121...97,760,907

ZNF668

zinc finger protein 668

OMIM:620194

NCBI chr16:31,060,847...31,074,240
Ensembl chr16:31,060,843...31,074,240

Opisthotonus

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

AASS

aminoadipate-semialdehyde synthase

ORPHA:2203

NCBI chr 7:122,073,549...122,144,249
Ensembl chr 7:122,064,583...122,144,308

ADSL

adenylosuccinate lyase

OMIM:103050

NCBI chr22:40,346,500...40,387,527
Ensembl chr22:40,346,461...40,390,463

ALG11

ALG11 alpha-1,2-mannosyltransferase

OMIM:613661 ORPHA:280071

NCBI chr13:52,012,398...52,033,600
Ensembl chr13:52,012,391...52,079,232

alsin Rho guanine nucleotide exchange factor ALS2

NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112

aspartoacylase

NCBI chr17:3,474,110...3,503,405
Ensembl chr17:3,472,374...3,503,405

CARS2

cysteinyl-tRNA synthetase 2, mitochondrial

OMIM:616672

NCBI chr13:110,641,410...110,713,522
Ensembl chr13:110,641,412...110,713,603

CLPB

ClpB family mitochondrial disaggregase

OMIM:616271 ORPHA:445038

NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680

CRLF1

cytokine receptor like factor 1

OMIM:272430

NCBI chr19:18,593,237...18,606,799
Ensembl chr19:18,572,220...18,607,741

CYB5R3

cytochrome b5 reductase 3

OMIM:250800

NCBI chr22:42,617,840...42,649,392
Ensembl chr22:42,615,730...42,720,870

dynamin 1

NCBI chr 9:128,203,379...128,255,244
Ensembl chr 9:128,191,655...128,255,248

DTYMK

deoxythymidylate kinase

OMIM:619847

NCBI chr 2:241,675,747...241,686,815
Ensembl chr 2:241,675,747...241,686,944

EXTL3

exostosin like glycosyltransferase 3

ORPHA:508533

NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561

FUS RNA binding protein

NCBI chr16:31,180,110...31,194,871
Ensembl chr16:31,180,138...31,196,963

galactosylceramidase

NCBI chr14:87,933,014...87,993,667
Ensembl chr14:87,837,820...87,993,665

glucosylceramidase beta 1

OMIM:608013

NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699

GCDH

glutaryl-CoA dehydrogenase

OMIM:231670

NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,128...12,915,126

glycerate kinase

NCBI chr 3:52,287,828...52,295,257
Ensembl chr 3:52,287,089...52,295,257

GRIK2

glutamate ionotropic receptor kainate type subunit 2

OMIM:619580

NCBI chr 6:101,393,708...102,070,083
Ensembl chr 6:100,962,701...102,081,622

GRIN1

glutamate ionotropic receptor NMDA type subunit 1

OMIM:619814

NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756

HPRT1

hypoxanthine phosphoribosyltransferase 1

OMIM:300322

NCBI chr X:134,460,165...134,500,668
Ensembl chr X:134,460,165...134,520,513

KCNC2

potassium voltage-gated channel subfamily C member 2

OMIM:619913

NCBI chr12:75,040,078...75,209,839
Ensembl chr12:75,040,077...75,209,839

KCNJ6

potassium inwardly rectifying channel subfamily J member 6

OMIM:614098 ORPHA:435628

NCBI chr21:37,607,373...37,916,457
Ensembl chr21:37,607,373...38,121,345

MCCC1

methylcrotonyl-CoA carboxylase subunit 1

OMIM:210200

NCBI chr 3:183,015,218...183,116,196
Ensembl chr 3:183,015,218...183,116,075

MCCC2

methylcrotonyl-CoA carboxylase subunit 2

OMIM:210210

NCBI chr 5:71,587,340...71,658,706
Ensembl chr 5:71,579,531...71,658,706

MOCS1

molybdenum cofactor synthesis 1

OMIM:252150

NCBI chr 6:39,904,170...39,934,462
Ensembl chr 6:39,899,578...39,934,551

MOCS2

molybdenum cofactor synthesis 2

OMIM:252160

NCBI chr 5:53,095,679...53,109,757
Ensembl chr 5:53,095,679...53,110,063

NDE1

nudE neurodevelopment protein 1

ORPHA:2177

NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691

NDUFA8

NADH:ubiquinone oxidoreductase subunit A8

OMIM:619272

NCBI chr 9:122,132,466...122,159,779
Ensembl chr 9:122,144,058...122,159,779

NFU1

NFU1 iron-sulfur cluster scaffold

OMIM:605711

NCBI chr 2:69,395,750...69,439,567
Ensembl chr 2:69,396,113...69,437,628

OPA1 mitochondrial dynamin like GTPase

OMIM:616896

NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811

PAFAH1B1

platelet activating factor acetylhydrolase 1b regulatory subunit 1

ORPHA:95232

NCBI chr17:2,593,183...2,685,615
Ensembl chr17:2,593,183...2,685,615

PANK2

pantothenate kinase 2

ORPHA:216866

NCBI chr20:3,888,781...3,929,887
Ensembl chr20:3,888,839...3,929,887

PLCB4

phospholipase C beta 4

OMIM:620458

NCBI chr20:9,068,678...9,480,808
Ensembl chr20:9,067,825...9,504,593

POU3F3

POU class 3 homeobox 3

OMIM:618604

NCBI chr 2:104,854,115...104,858,574
Ensembl chr 2:104,853,287...104,858,574

prosaposin

NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251

PTS

6-pyruvoyltetrahydropterin synthase

ORPHA:13

NCBI chr11:112,226,428...112,233,973
Ensembl chr11:112,226,367...112,269,955

SETBP1

SET binding protein 1

OMIM:269150

NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510

sigma non-opioid intracellular receptor 1

NCBI chr 9:34,634,722...34,637,787
Ensembl chr 9:34,634,722...34,637,844

SLC19A3

solute carrier family 19 member 3

OMIM:607483

NCBI chr 2:227,683,763...227,718,028
Ensembl chr 2:227,683,763...227,718,028

SLC39A14

solute carrier family 39 member 14

OMIM:617013

NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129

SPG11 vesicle trafficking associated, spatacsin

NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688

serine palmitoyltransferase long chain base subunit 1

NCBI chr 9:92,031,147...92,115,413
Ensembl chr 9:92,000,087...92,115,413

tenascin R

NCBI chr 1:175,315,194...175,743,595
Ensembl chr 1:175,315,194...175,743,595

TOE1

target of EGR1, exonuclease

OMIM:614969

NCBI chr 1:45,340,170...45,343,973
Ensembl chr 1:45,340,052...45,343,973

TSEN2

tRNA splicing endonuclease subunit 2

OMIM:612389

NCBI chr 3:12,480,231...12,539,624
Ensembl chr 3:12,484,421...12,541,549

TSEN54

tRNA splicing endonuclease subunit 54

OMIM:277470

NCBI chr17:75,516,528...75,524,735
Ensembl chr17:75,515,944...75,524,735

TUFM

Tu translation elongation factor, mitochondrial

OMIM:610678

NCBI chr16:28,842,411...28,846,348
Ensembl chr16:28,842,411...28,846,348

UFC1

ubiquitin-fold modifier conjugating enzyme 1

OMIM:618076

NCBI chr 1:161,153,978...161,158,856
Ensembl chr 1:161,152,776...161,158,856

UGDH

UDP-glucose 6-dehydrogenase

OMIM:618792

NCBI chr 4:39,498,755...39,527,439
Ensembl chr 4:39,498,755...39,528,311

VPS50

VPS50 subunit of EARP/GARPII complex

OMIM:619685

NCBI chr 7:93,232,366...93,361,123
Ensembl chr 7:93,232,340...93,361,123

VPS53

VPS53 subunit of GARP complex

OMIM:615851

NCBI chr17:508,668...714,839
Ensembl chr17:508,503...721,717

Progressive spastic paraparesis

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ATP binding cassette subfamily D member 1

ORPHA:139399

NCBI chr X:153,724,856...153,744,755
Ensembl chr X:153,724,856...153,744,755

ADGRB2

adhesion G protein-coupled receptor B2

ClinVar Annotator: match by term: Progressive spastic paraparesis

PMID:28891236

NCBI chr 1:31,727,117...31,764,340
Ensembl chr 1:31,727,117...31,764,893

carnitine palmitoyltransferase 1C

NCBI chr19:49,690,662...49,713,731
Ensembl chr19:49,690,898...49,713,731

fatty acid 2-hydroxylase

ORPHA:329308

NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831

galactosylceramidase

NCBI chr14:87,933,014...87,993,667
Ensembl chr14:87,837,820...87,993,665

mitochondrially encoded ATP synthase membrane subunit 6

ClinVar Annotator: match by term: Progressive spastic paraparesis

NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207

MT-TE

mitochondrially encoded tRNA-Glu (GAA/G)

ClinVar Annotator: match by term: Progressive spastic paraparesis

NCBI chr MT:14,674...14,742
Ensembl chr MT:14,674...14,742

selenoprotein I

NCBI chr 2:26,346,143...26,395,885
Ensembl chr 2:26,308,547...26,395,885

SPG7 matrix AAA peptidase subunit, paraplegin

ORPHA:35689

NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766

tubulin folding cofactor E

ORPHA:496756

NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443

Progressive spastic paraplegia

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

adaptor related protein complex 4 subunit beta 1

NCBI chr 1:113,894,194...113,905,028
Ensembl chr 1:113,894,194...113,905,712

adaptor related protein complex 4 subunit epsilon 1

NCBI chr15:50,907,492...51,005,895
Ensembl chr15:50,908,672...51,005,895

adaptor related protein complex 4 subunit mu 1

NCBI chr 7:100,100,794...100,109,039
Ensembl chr 7:100,100,858...100,110,345

adaptor related protein complex 4 subunit sigma 1

NCBI chr14:31,025,106...31,096,450
Ensembl chr14:31,025,106...31,130,996

adaptor related protein complex 5 subunit zeta 1

ORPHA:306511

NCBI chr 7:4,775,623...4,794,397
Ensembl chr 7:4,775,615...4,794,397

arylsulfatase family member I

ORPHA:401815

NCBI chr 5:150,296,343...150,302,905
Ensembl chr 5:150,296,343...150,339,307

ATPase cation transporting 13A2

ORPHA:513436

NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928

chaperonin containing TCP1 subunit 5

ORPHA:139578

NCBI chr 5:10,249,921...10,266,412
Ensembl chr 5:10,249,929...10,266,389

carnitine palmitoyltransferase 1C

NCBI chr19:49,690,662...49,713,731
Ensembl chr19:49,690,898...49,713,731

fatty acid 2-hydroxylase

ORPHA:329308

NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831

phenylalanyl-tRNA synthetase 2, mitochondrial

ORPHA:466722

NCBI chr 6:5,249,934...5,771,583
Ensembl chr 6:5,261,044...5,829,192

FLRT1

fibronectin leucine rich transmembrane protein 1

ORPHA:320406

NCBI chr11:64,035,931...64,119,171
Ensembl chr11:64,035,931...64,119,173

HACE1

HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1

ORPHA:464282

NCBI chr 6:104,728,094...104,859,919
Ensembl chr 6:104,728,094...104,859,919

IBA57

iron-sulfur cluster assembly factor IBA57

ORPHA:468661

NCBI chr 1:228,165,804...228,182,257
Ensembl chr 1:228,165,804...228,182,257

KDM5C

lysine demethylase 5C

OMIM:300534

NCBI chr X:53,176,277...53,225,207
Ensembl chr X:53,176,283...53,225,422

KIDINS220

kinase D interacting substrate 220

ORPHA:521390

NCBI chr 2:8,721,081...8,837,613
Ensembl chr 2:8,721,081...8,837,630

kinesin family member 1A

ORPHA:101010

NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293

KLC2

kinesin light chain 2

ORPHA:320406

NCBI chr11:66,243,938...66,267,860
Ensembl chr11:66,257,294...66,267,860

KPNA3

karyopherin subunit alpha 3

ORPHA:171612

NCBI chr13:49,699,320...49,792,682
Ensembl chr13:49,699,320...49,792,682

kyphoscoliosis peptidase

ORPHA:496689

NCBI chr 3:134,599,923...134,651,022
Ensembl chr 3:134,599,923...134,651,636

methionyl-tRNA synthetase 1

ORPHA:401835

NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569

mitochondrially encoded ATP synthase membrane subunit 6

ORPHA:320360

NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207

post-GPI attachment to proteins inositol deacylase 1

ORPHA:401820

NCBI chr 2:196,833,004...196,926,707
Ensembl chr 2:196,833,004...196,927,796

proteolipid protein 1

ORPHA:280234

NCBI chr X:103,776,506...103,792,619
Ensembl chr X:103,773,718...103,792,619

patatin like phospholipase domain containing 6

OMIM:612020

NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764

RAB3 GTPase activating non-catalytic protein subunit 2

ORPHA:401830

NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529

reticulon 2

NCBI chr19:45,485,294...45,497,047
Ensembl chr19:45,485,294...45,497,055

selenoprotein I

NCBI chr 2:26,346,143...26,395,885
Ensembl chr 2:26,308,547...26,395,885

solute carrier family 33 member 1

ORPHA:171863

NCBI chr 3:155,821,024...155,854,427
Ensembl chr 3:155,821,024...155,854,456

ubiquitin associated protein 1

ORPHA:100993

NCBI chr 9:34,179,005...34,252,523
Ensembl chr 9:34,179,005...34,252,523

WASH complex subunit 5

ORPHA:100989

NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819

ZFR

zinc finger RNA binding protein

ORPHA:401840

NCBI chr 5:32,354,350...32,444,740
Ensembl chr 5:32,354,350...32,444,740

Progressive spastic quadriplegia

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ACP5

acid phosphatase 5, tartrate resistant

OMIM:607944

NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993

arginase 1

NCBI chr 6:131,573,226...131,584,329
Ensembl chr 6:131,470,832...131,584,332

arylsulfatase A

NCBI chr22:50,622,754...50,628,152
Ensembl chr22:50,622,754...50,628,173

ATPase cation transporting 13A2

ORPHA:513436

NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928

fatty acid 2-hydroxylase

ORPHA:329308

NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831

GM2A

ganglioside GM2 activator

ORPHA:309246

NCBI chr 5:151,253,185...151,270,440
Ensembl chr 5:151,212,150...151,270,440

NADK2

NAD kinase 2, mitochondrial

ORPHA:431361

NCBI chr 5:36,192,589...36,242,279
Ensembl chr 5:36,192,589...36,242,279

PAFAH1B1

platelet activating factor acetylhydrolase 1b regulatory subunit 1

ORPHA:95232

NCBI chr17:2,593,183...2,685,615
Ensembl chr17:2,593,183...2,685,615

phospholipase A2 group VI

DNA:deletion:cds:p.V691del

RGD

PMID:17033970

RGD:6482740

NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778

PLAA

phospholipase A2 activating protein

ORPHA:521426

NCBI chr 9:26,903,372...26,947,242
Ensembl chr 9:26,903,372...26,947,242

proteolipid protein 1

OMIM:312080 ORPHA:280234

NCBI chr X:103,776,506...103,792,619
Ensembl chr X:103,773,718...103,792,619

prosaposin

NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251

spectrin beta, non-erythrocytic 1

NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446

Progressive spasticity

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

catenin beta 1

NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096

DARS2

aspartyl-tRNA synthetase 2, mitochondrial

ORPHA:137898

NCBI chr 1:173,824,673...173,858,546
Ensembl chr 1:173,824,653...173,858,808

DEGS1

delta 4-desaturase, sphingolipid 1

OMIM:618404

NCBI chr 1:224,183,240...224,193,441
Ensembl chr 1:224,175,756...224,193,441

galactosylceramidase

NCBI chr14:87,933,014...87,993,667
Ensembl chr14:87,837,820...87,993,665

gap junction protein gamma 2

OMIM:608804

NCBI chr 1:228,149,930...228,159,826
Ensembl chr 1:228,149,930...228,159,826

glutaredoxin 5

NCBI chr14:95,535,050...95,544,714
Ensembl chr14:95,533,503...95,544,724

heat shock protein family D (Hsp60) member 1

OMIM:612233

NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737

methyl-CpG binding protein 2

OMIM:300260

NCBI chr X:154,021,573...154,097,717
Ensembl chr X:154,021,573...154,137,103

MSL3

MSL complex subunit 3

OMIM:301032

NCBI chr X:11,758,159...11,775,772
Ensembl chr X:11,758,159...11,775,772

NK6 homeobox 2

NCBI chr10:132,783,181...132,786,147
Ensembl chr10:132,783,179...132,786,147

OPA1 mitochondrial dynamin like GTPase

OMIM:210000

NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811

phospholipase A2 group VI

ORPHA:35069

NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778

POLG

DNA polymerase gamma, catalytic subunit

ORPHA:726

NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861

RPS6KA3

ribosomal protein S6 kinase A3

ORPHA:192

NCBI chr X:20,149,911...20,267,097
Ensembl chr X:20,149,911...20,267,519

selenoprotein I

NCBI chr 2:26,346,143...26,395,885
Ensembl chr 2:26,308,547...26,395,885

SPG11 vesicle trafficking associated, spatacsin

ORPHA:2822

NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688

TAF8

TATA-box binding protein associated factor 8

OMIM:619972

NCBI chr 6:42,050,524...42,087,462
Ensembl chr 6:42,050,513...42,087,461

tubulin folding cofactor D

ORPHA:496641

NCBI chr17:82,752,065...82,945,914
Ensembl chr17:82,752,042...82,945,914

ZSWIM6

zinc finger SWIM-type containing 6

OMIM:617865

NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172

Scissor gait

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

AMPD2

adenosine monophosphate deaminase 2

OMIM:615686 ORPHA:401805

NCBI chr 1:109,619,837...109,632,055
Ensembl chr 1:109,616,104...109,632,051

ARL6IP1

ADP ribosylation factor like GTPase 6 interacting protein 1

OMIM:615685 ORPHA:401780

NCBI chr16:18,791,667...18,801,549
Ensembl chr16:18,791,669...18,801,572

ATP6AP2

ATPase H+ transporting accessory protein 2

ORPHA:363654

NCBI chr X:40,580,970...40,606,848
Ensembl chr X:40,579,372...40,606,848

ERCC6

ERCC excision repair 6, chromatin remodeling factor

OMIM:278800

NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538

phenylalanyl-tRNA synthetase 2, mitochondrial

ORPHA:466722

NCBI chr 6:5,249,934...5,771,583
Ensembl chr 6:5,261,044...5,829,192

F-box protein 7

NCBI chr22:32,474,811...32,498,829
Ensembl chr22:32,474,676...32,498,829

kinesin family member 1A

ORPHA:101010

NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293

SHMT2

serine hydroxymethyltransferase 2

OMIM:619121

NCBI chr12:57,229,711...57,234,935
Ensembl chr12:57,229,573...57,234,935

SLC39A14

solute carrier family 39 member 14

OMIM:617013 ORPHA:521406

NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129

Spastic diplegia

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

AARS1

alanyl-tRNA synthetase 1

OMIM:619691

NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707

AASS

aminoadipate-semialdehyde synthase

ORPHA:2203 ORPHA:3124

NCBI chr 7:122,073,549...122,144,249
Ensembl chr 7:122,064,583...122,144,308

ACP5

acid phosphatase 5, tartrate resistant

OMIM:607944

NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993

adducin 3

NCBI chr10:109,996,373...110,135,565
Ensembl chr10:109,996,368...110,135,565

ALDH3A2

aldehyde dehydrogenase 3 family member A2

ORPHA:816

NCBI chr17:19,648,136...19,677,596
Ensembl chr17:19,648,136...19,685,760

alsin Rho guanine nucleotide exchange factor ALS2

NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112

AP1S2

adaptor related protein complex 1 subunit sigma 2

ORPHA:85335

NCBI chr X:15,825,806...15,854,813
Ensembl chr X:15,825,806...15,854,931

BCL6 corepressor

NCBI chr X:40,051,246...40,177,329
Ensembl chr X:40,049,815...40,177,329

catenin beta 1

NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096

DARS1

aspartyl-tRNA synthetase 1

OMIM:615281

NCBI chr 2:135,905,881...135,985,684
Ensembl chr 2:135,905,881...135,986,100

ELP2

elongator acetyltransferase complex subunit 2

OMIM:617270

NCBI chr18:36,129,899...36,180,557
Ensembl chr18:36,129,444...36,180,557

filamin A

NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634

FUS RNA binding protein

NCBI chr16:31,180,110...31,194,871
Ensembl chr16:31,180,138...31,196,963

GALC

galactosylceramidase

ORPHA:206436 ORPHA:206443

NCBI chr14:87,933,014...87,993,667
Ensembl chr14:87,837,820...87,993,665

GCDH

glutaryl-CoA dehydrogenase

OMIM:231670

NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,128...12,915,126

GLRX5

glutaredoxin 5

OMIM:616859 ORPHA:401866

NCBI chr14:95,535,050...95,544,714
Ensembl chr14:95,533,503...95,544,724

H4 clustered histone 5

NCBI chr 6:26,204,610...26,205,021
Ensembl chr 6:26,204,610...26,205,021

hydroxysteroid 17-beta dehydrogenase 10

ORPHA:391428

NCBI chr X:53,431,258...53,434,376
Ensembl chr X:53,431,258...53,434,370

HSD17B4

hydroxysteroid 17-beta dehydrogenase 4

OMIM:233400

NCBI chr 5:119,452,497...119,542,332
Ensembl chr 5:119,452,465...119,637,199

HUWE1

HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1

OMIM:309590

NCBI chr X:53,532,096...53,686,719
Ensembl chr X:53,532,096...53,686,752

KCNJ10

potassium inwardly rectifying channel subfamily J member 10

ClinVar Annotator: match by term: Spastic diplegia

PMID:19289823 PMID:19420365 PMID:20651251 PMID:20807765 PMID:32581362

NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,483

NAA10

N-alpha-acetyltransferase 10, NatA catalytic subunit

OMIM:309800

NCBI chr X:153,929,225...153,935,037
Ensembl chr X:153,929,225...153,935,080

NDE1

nudE neurodevelopment protein 1

ORPHA:2177

NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691

NDUFA4

NDUFA4 mitochondrial complex associated

OMIM:619065

NCBI chr 7:10,931,943...10,940,153
Ensembl chr 7:10,931,943...10,940,153

NTRK2

neurotrophic receptor tyrosine kinase 2

OMIM:617830

NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751

PDHX

pyruvate dehydrogenase complex component X

ORPHA:255182

NCBI chr11:34,915,920...34,996,128
Ensembl chr11:34,915,829...35,020,591

PNP

purine nucleoside phosphorylase

OMIM:613179

NCBI chr14:20,469,406...20,477,089
Ensembl chr14:20,461,992...20,477,094

PQBP1

polyglutamine binding protein 1

ORPHA:93947

NCBI chr X:48,897,930...48,903,143
Ensembl chr X:48,890,197...48,903,402

prosaposin

NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251

RAB3GAP1

RAB3 GTPase activating protein catalytic subunit 1

OMIM:600118 OMIM:619420

NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,289...135,176,667

RAB3 GTPase activating non-catalytic protein subunit 2

OMIM:212720 OMIM:614225

NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529

RNA, U7 small nuclear 1

OMIM:619487

NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878

sigma non-opioid intracellular receptor 1

NCBI chr 9:34,634,722...34,637,787
Ensembl chr 9:34,634,722...34,637,844

SIX homeobox 6

NCBI chr14:60,509,146...60,512,850
Ensembl chr14:60,509,146...60,512,850

solute carrier family 25 member 15

OMIM:238970

NCBI chr13:40,789,611...40,812,460
Ensembl chr13:40,789,412...40,812,460

SOX2

SRY-box transcription factor 2

OMIM:206900

NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436

spastin

ClinVar Annotator: match by term: Spastic diplegia

PMID:10699187 PMID:11809724 PMID:11843700 PMID:15841487 PMID:20214791 More...

NCBI chr 2:32,063,556...32,157,637
Ensembl chr 2:32,063,556...32,157,637

SPG11 vesicle trafficking associated, spatacsin

NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688

spectrin beta, non-erythrocytic 1

NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446

serine palmitoyltransferase long chain base subunit 1

NCBI chr 9:92,031,147...92,115,413
Ensembl chr 9:92,000,087...92,115,413

TAF1

TATA-box binding protein associated factor 1

OMIM:300966 ORPHA:480907

NCBI chr X:71,366,357...71,530,525
Ensembl chr X:71,366,136...71,532,374

TANGO2

transport and golgi organization 2 homolog

OMIM:616878

NCBI chr22:20,017,023...20,067,164
Ensembl chr22:20,017,014...20,067,164

TUBB3

tubulin beta 3 class III

ORPHA:300570

NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761

ZDHHC15

zinc finger DHHC-type palmitoyltransferase 15

ClinVar Annotator: match by term: Spastic diplegia

NCBI chr X:75,368,427...75,523,037
Ensembl chr X:75,368,427...75,523,502

Spastic dysarthria

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

AFG3L2

AFG3 like matrix AAA peptidase subunit 2

ORPHA:313772

NCBI chr18:12,328,944...12,377,227
Ensembl chr18:12,328,944...12,377,227

aldehyde dehydrogenase 18 family member A1

ORPHA:447753 ORPHA:447757

NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711

alsin Rho guanine nucleotide exchange factor ALS2

OMIM:205100 OMIM:606353 ORPHA:247604

NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112

adaptor related protein complex 4 subunit beta 1

NCBI chr 1:113,894,194...113,905,028
Ensembl chr 1:113,894,194...113,905,712

adaptor related protein complex 4 subunit epsilon 1

NCBI chr15:50,907,492...51,005,895
Ensembl chr15:50,908,672...51,005,895

adaptor related protein complex 4 subunit mu 1

NCBI chr 7:100,100,794...100,109,039
Ensembl chr 7:100,100,858...100,110,345

adaptor related protein complex 4 subunit sigma 1

NCBI chr14:31,025,106...31,096,450
Ensembl chr14:31,025,106...31,130,996

ATP2B3

ATPase plasma membrane Ca2+ transporting 3

ORPHA:314978

NCBI chr X:153,517,642...153,582,929
Ensembl chr X:153,517,642...153,582,939

ataxin 8

ATXN8 opposite strand lncRNA

ORPHA:98760

NCBI chr13:70,107,421...70,171,738
Ensembl chr13:70,107,213...70,171,738

ER lipid raft associated 2

ORPHA:247604

NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422

fatty acyl-CoA reductase 1

ORPHA:447753

NCBI chr11:13,668,668...13,732,346
Ensembl chr11:13,668,659...13,732,346

glucosylceramidase beta 2

ORPHA:320391 ORPHA:352641

NCBI chr 9:35,736,866...35,749,228
Ensembl chr 9:35,736,866...35,749,228

GJB1

gap junction protein beta 1

ORPHA:1175

NCBI chr X:71,215,239...71,225,516
Ensembl chr X:71,212,811...71,225,516

glutaredoxin 5

NCBI chr14:95,535,050...95,544,714
Ensembl chr14:95,533,503...95,544,724

myelin associated glycoprotein

OMIM:616680

NCBI chr19:35,292,161...35,313,807
Ensembl chr19:35,292,125...35,313,807

MAPT

microtubule associated protein tau

ORPHA:240094

NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334

MARS2

methionyl-tRNA synthetase 2, mitochondrial

ORPHA:314603

NCBI chr 2:197,705,369...197,708,395
Ensembl chr 2:197,705,369...197,708,395

PEX6

peroxisomal biogenesis factor 6

ORPHA:95433

NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181

PNPT1

polyribonucleotide nucleotidyltransferase 1

ORPHA:101111

NCBI chr 2:55,634,061...55,693,844
Ensembl chr 2:55,634,061...55,693,863

POLR3A

RNA polymerase III subunit A

ORPHA:447896

NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522

PRNP

prion protein (Kanno blood group)

ORPHA:282166

NCBI chr20:4,686,456...4,701,588
Ensembl chr20:4,686,350...4,701,590

RAB3 GTPase activating non-catalytic protein subunit 2

ORPHA:401830

NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529

spartin

NCBI chr13:36,301,638...36,370,180
Ensembl chr13:36,301,638...36,370,180

SPG7 matrix AAA peptidase subunit, paraplegin

ORPHA:35689

NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766

TDP1

tyrosyl-DNA phosphodiesterase 1

ORPHA:94124

NCBI chr14:89,954,968...90,044,764
Ensembl chr14:89,954,939...90,044,764

vesicle associated membrane protein 1

ORPHA:251282

NCBI chr12:6,462,237...6,470,677
Ensembl chr12:6,462,237...6,470,677

Spastic gait

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ATP binding cassette subfamily D member 1

ClinVar Annotator: match by term: Spastic gait

PMID:8535452 PMID:9242200 PMID:9846054 PMID:21966424 PMID:22479560 More...

ORPHA:139399

NCBI chr X:153,724,856...153,744,755
Ensembl chr X:153,724,856...153,744,755

aldehyde dehydrogenase 18 family member A1

OMIM:601162 ORPHA:447753 ORPHA:447757 ORPHA:447760, RGD:13434921

DNA:mutations:cds:

HPO
RGD

PMID:26026163

NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711

alsin Rho guanine nucleotide exchange factor ALS2

OMIM:205100 OMIM:606353 ORPHA:247604

NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112

adaptor related protein complex 5 subunit zeta 1

OMIM:613647 ORPHA:306511

NCBI chr 7:4,775,623...4,794,397
Ensembl chr 7:4,775,615...4,794,397

APC

APC regulator of WNT signaling pathway

ORPHA:261584

NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239

arginase 1

NCBI chr 6:131,573,226...131,584,329
Ensembl chr 6:131,470,832...131,584,332

arylsulfatase family member I

ORPHA:401815

NCBI chr 5:150,296,343...150,302,905
Ensembl chr 5:150,296,343...150,339,307

ATAD3A

ATPase family AAA domain containing 3A

ORPHA:496790

NCBI chr 1:1,512,162...1,534,685
Ensembl chr 1:1,512,162...1,534,685

ATL1

atlastin GTPase 1

OMIM:182600 ORPHA:100984

NCBI chr14:50,533,082...50,633,068
Ensembl chr14:50,532,509...50,634,017

beta-1,4-N-acetyl-galactosaminyltransferase 1

OMIM:609195

NCBI chr12:57,623,409...57,633,201
Ensembl chr12:57,623,409...57,633,239

BSCL2 lipid droplet biogenesis associated, seipin

OMIM:270685 ORPHA:100998

NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845

CACNA1A

calcium voltage-gated channel subunit alpha1 A

ClinVar Annotator: match by term: Spastic gait

NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489

CACNA1G

calcium voltage-gated channel subunit alpha1 G

OMIM:616795 ORPHA:458803

NCBI chr17:50,560,715...50,627,474
Ensembl chr17:50,560,715...50,627,474

chaperonin containing TCP1 subunit 5

OMIM:256840

NCBI chr 5:10,249,921...10,266,412
Ensembl chr 5:10,249,929...10,266,389

COL6A2

collagen type VI alpha 2 chain

ClinVar Annotator: match by term: Spastic gait

PMID:25741868 PMID:28492532 PMID:30755392

NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848

carnitine palmitoyltransferase 1C

NCBI chr19:49,690,662...49,713,731
Ensembl chr19:49,690,898...49,713,731

CYP2U1

cytochrome P450 family 2 subfamily U member 1

ORPHA:320411

NCBI chr 4:107,931,549...107,953,461
Ensembl chr 4:107,931,549...107,953,461

cytochrome P450 family 7 subfamily B member 1

OMIM:270800

NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737

DDHD domain containing 1

ORPHA:101008

NCBI chr14:53,036,755...53,153,323
Ensembl chr14:53,036,745...53,153,323

DDHD2

DDHD domain containing 2

ORPHA:320380

NCBI chr 8:38,231,585...38,273,647
Ensembl chr 8:38,225,218...38,275,558

DSTYK

dual serine/threonine and tyrosine protein kinase

ORPHA:101003

NCBI chr 1:205,142,505...205,211,702
Ensembl chr 1:205,142,505...205,211,702

ERLIN1

ER lipid raft associated 1

OMIM:615681 ORPHA:401785

NCBI chr10:100,150,094...100,186,029
Ensembl chr10:100,150,094...100,186,033

ER lipid raft associated 2

ORPHA:247604

NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422

fatty acyl-CoA reductase 1

ORPHA:447753

NCBI chr11:13,668,668...13,732,346
Ensembl chr11:13,668,659...13,732,346

alpha-L-fucosidase 1

NCBI chr 1:23,845,077...23,868,290
Ensembl chr 1:23,845,077...23,868,290

glucosylceramidase beta 2

OMIM:614409

NCBI chr 9:35,736,866...35,749,228
Ensembl chr 9:35,736,866...35,749,228

gap junction protein gamma 2

OMIM:613206

NCBI chr 1:228,149,930...228,159,826
Ensembl chr 1:228,149,930...228,159,826

heat shock protein family D (Hsp60) member 1

OMIM:605280 ORPHA:100994

NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737

KCNA1

potassium voltage-gated channel subfamily A member 1

OMIM:160120 ORPHA:972

NCBI chr12:4,909,905...4,918,256
Ensembl chr12:4,909,905...4,918,256

KCNA4

potassium voltage-gated channel subfamily A member 4

OMIM:618284

NCBI chr11:30,009,730...30,017,030
Ensembl chr11:30,009,730...30,017,030

KIDINS220

kinase D interacting substrate 220

OMIM:617296

NCBI chr 2:8,721,081...8,837,613
Ensembl chr 2:8,721,081...8,837,630

kinesin family member 1A

OMIM:610357 ORPHA:101010

NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293

kinesin family member 5A

OMIM:604187

NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633

KPNA3

karyopherin subunit alpha 3

ORPHA:171612

NCBI chr13:49,699,320...49,792,682
Ensembl chr13:49,699,320...49,792,682

lamin B1

NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020

myelin associated glycoprotein

OMIM:616680

NCBI chr19:35,292,161...35,313,807
Ensembl chr19:35,292,125...35,313,807

methyl-CpG binding protein 2

OMIM:300055

NCBI chr X:154,021,573...154,097,717
Ensembl chr X:154,021,573...154,137,103

MFSD2A

MFSD2 lysolipid transporter A, lysophospholipid

OMIM:616486

NCBI chr 1:39,955,145...39,969,956
Ensembl chr 1:39,955,112...39,969,968

NIPA1

NIPA magnesium transporter 1

OMIM:600363

NCBI chr15:22,786,225...22,829,789
Ensembl chr15:22,773,063...22,829,789

NT5C2

5'-nucleotidase, cytosolic II

OMIM:613162 ORPHA:320396

NCBI chr10:103,088,017...103,193,272
Ensembl chr10:103,087,185...103,277,605

post-GPI attachment to proteins inositol deacylase 1

ORPHA:401820

NCBI chr 2:196,833,004...196,926,707
Ensembl chr 2:196,833,004...196,927,796

proteolipid protein 1

OMIM:312920 ORPHA:99015

NCBI chr X:103,776,506...103,792,619
Ensembl chr X:103,773,718...103,792,619

POLR3B

RNA polymerase III subunit B

OMIM:619742

NCBI chr12:106,357,748...106,510,198
Ensembl chr12:106,357,748...106,510,198

receptor accessory protein 1

OMIM:610250 ORPHA:101011

NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083

REEP2

receptor accessory protein 2

OMIM:615625 OMIM:620606 ORPHA:401849

NCBI chr 5:138,439,057...138,446,965
Ensembl chr 5:138,439,057...138,446,969

RTN2

reticulon 2

OMIM:604805 ORPHA:100993

NCBI chr19:45,485,294...45,497,047
Ensembl chr19:45,485,294...45,497,055

sacsin molecular chaperone

OMIM:270550

NCBI chr13:23,328,830...23,433,702
Ensembl chr13:23,288,689...23,433,763

SHMT2

serine hydroxymethyltransferase 2

OMIM:619121

NCBI chr12:57,229,711...57,234,935
Ensembl chr12:57,229,573...57,234,935

solute carrier family 25 member 15

OMIM:238970 ORPHA:415

NCBI chr13:40,789,611...40,812,460
Ensembl chr13:40,789,412...40,812,460

solute carrier family 33 member 1

OMIM:612539 ORPHA:171863

NCBI chr 3:155,821,024...155,854,427
Ensembl chr 3:155,821,024...155,854,456

SPART

spartin

OMIM:275900 ORPHA:101000

NCBI chr13:36,301,638...36,370,180
Ensembl chr13:36,301,638...36,370,180

spastin

NCBI chr 2:32,063,556...32,157,637
Ensembl chr 2:32,063,556...32,157,637

SPG11 vesicle trafficking associated, spatacsin

OMIM:604360

NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688

SPG7 matrix AAA peptidase subunit, paraplegin

OMIM:607259 ORPHA:35689 ORPHA:99013

NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766

spectrin alpha, non-erythrocytic 1

OMIM:620538 OMIM:620540

NCBI chr 9:128,552,587...128,633,662
Ensembl chr 9:128,552,558...128,633,662

SPTSSA

serine palmitoyltransferase small subunit A

OMIM:620416

NCBI chr14:34,432,788...34,462,240
Ensembl chr14:34,432,788...34,462,240

TACO1

translational activator of cytochrome c oxidase I

OMIM:619052

NCBI chr17:63,600,895...63,608,365
Ensembl chr17:63,600,882...63,608,365

TECPR2

tectonin beta-propeller repeat containing 2

OMIM:615031

NCBI chr14:102,362,941...102,502,477
Ensembl chr14:102,362,941...102,502,477

TMEM63C

transmembrane protein 63C

OMIM:619966

NCBI chr14:77,181,798...77,259,495
Ensembl chr14:77,116,568...77,259,495

UBA5

ubiquitin like modifier activating enzyme 5

OMIM:617133

NCBI chr 3:132,654,430...132,679,794
Ensembl chr 3:132,654,446...132,679,794

ubiquitin associated protein 1

ORPHA:100993

NCBI chr 9:34,179,005...34,252,523
Ensembl chr 9:34,179,005...34,252,523

USP8

ubiquitin specific peptidase 8

ORPHA:401795

NCBI chr15:50,424,405...50,514,421
Ensembl chr15:50,424,380...50,514,421

vesicle associated membrane protein 1

ORPHA:251282

NCBI chr12:6,462,237...6,470,677
Ensembl chr12:6,462,237...6,470,677

valosin containing protein

ORPHA:329475

NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668

WASH complex subunit 5

ClinVar Annotator: match by term: Spastic gait

OMIM:603563 ORPHA:100989

NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819

WD repeat domain 26

NCBI chr 1:224,385,146...224,434,797
Ensembl chr 1:224,385,146...224,437,033

WD repeat domain 48

NCBI chr 3:39,052,016...39,096,664
Ensembl chr 3:39,052,013...39,096,671

WLS

Wnt ligand secretion mediator

OMIM:619648

NCBI chr 1:68,098,459...68,232,546
Ensembl chr 1:68,098,473...68,233,120

ZFR

zinc finger RNA binding protein

ORPHA:401840

NCBI chr 5:32,354,350...32,444,740
Ensembl chr 5:32,354,350...32,444,740

zinc finger FYVE-type containing 26

OMIM:270700

NCBI chr14:67,728,892...67,816,590
Ensembl chr14:67,727,374...67,816,590

zinc finger FYVE-type containing 27

OMIM:610244

NCBI chr10:97,737,128...97,760,895
Ensembl chr10:97,737,121...97,760,907

Spastic hemiparesis

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

AFG2B

AFG2 AAA ATPase homolog B

OMIM:619616

NCBI chr15:45,402,336...45,421,415
Ensembl chr15:45,402,336...45,421,415

HMGCL

3-hydroxy-3-methylglutaryl-CoA lyase

ORPHA:20

NCBI chr 1:23,801,885...23,825,429
Ensembl chr 1:23,801,885...23,838,620

PRNP

prion protein (Kanno blood group)

ORPHA:282166

NCBI chr20:4,686,456...4,701,588
Ensembl chr20:4,686,350...4,701,590

TARS2

threonyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Spastic hemiplegia

PMID:25741868 PMID:34508595

NCBI chr 1:150,487,419...150,507,602
Ensembl chr 1:150,487,414...150,507,602

Spastic paraparesis

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

AAAS

aladin WD repeat nucleoporin

ClinVar Annotator: match by term: Spastic paraparesis

PMID:11159947 PMID:12752575 PMID:18172684 PMID:22538409 PMID:25741868 More...

NCBI chr12:53,307,460...53,321,610
Ensembl chr12:53,307,456...53,324,864

adenosine deaminase RNA specific

NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013

AFG3L2

AFG3 like matrix AAA peptidase subunit 2

ClinVar Annotator: match by term: Spastic paraparesis

PMID:32219868

OMIM:614487 ORPHA:313772

NCBI chr18:12,328,944...12,377,227
Ensembl chr18:12,328,944...12,377,227

AIMP1

aminoacyl tRNA synthetase complex interacting multifunctional protein 1

OMIM:260600

NCBI chr 4:106,315,544...106,349,456
Ensembl chr 4:106,315,544...106,349,456

ALDH3A2

aldehyde dehydrogenase 3 family member A2

OMIM:270200

NCBI chr17:19,648,136...19,677,596
Ensembl chr17:19,648,136...19,685,760

adaptor related protein complex 5 subunit zeta 1

OMIM:613647

NCBI chr 7:4,775,623...4,794,397
Ensembl chr 7:4,775,615...4,794,397

arginase 1

NCBI chr 6:131,573,226...131,584,329
Ensembl chr 6:131,470,832...131,584,332

ATP6AP2

ATPase H+ transporting accessory protein 2

ORPHA:363654

NCBI chr X:40,580,970...40,606,848
Ensembl chr X:40,579,372...40,606,848

BCL6 corepressor

NCBI chr X:40,051,246...40,177,329
Ensembl chr X:40,049,815...40,177,329

biotinidase

NCBI chr 3:15,601,361...15,722,516
Ensembl chr 3:15,601,341...15,722,311

CACNA1A

calcium voltage-gated channel subunit alpha1 A

ClinVar Annotator: match by term: Spastic paraparesis

NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489

CCDC88C

coiled-coil domain containing 88C

OMIM:616053 ORPHA:423275

NCBI chr14:91,271,323...91,417,820
Ensembl chr14:91,271,323...91,417,844

COASY

Coenzyme A synthase

OMIM:615643 ORPHA:397725

NCBI chr17:42,562,148...42,566,277
Ensembl chr17:42,561,467...42,566,277

CYP27A1

cytochrome P450 family 27 subfamily A member 1

ORPHA:909

NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293

DNMT1

DNA methyltransferase 1

ClinVar Annotator: match by term: Spastic paraparesis

NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286

EDNRB

endothelin receptor type B

OMIM:277580

NCBI chr13:77,895,481...77,975,527
Ensembl chr13:77,895,481...77,975,529

fatty acyl-CoA reductase 1

OMIM:619338

NCBI chr11:13,668,668...13,732,346
Ensembl chr11:13,668,659...13,732,346

galactosylceramidase

NCBI chr14:87,933,014...87,993,667
Ensembl chr14:87,837,820...87,993,665

glucosylceramidase beta 1

OMIM:231000

NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699

glucosylceramidase beta 2

ClinVar Annotator: match by term: Spastic paraparesis

NCBI chr 9:35,736,866...35,749,228
Ensembl chr 9:35,736,866...35,749,228

GFAP

glial fibrillary acidic protein

ORPHA:363722

NCBI chr17:44,903,159...44,915,500
Ensembl chr17:44,903,159...44,916,937

GJA1

gap junction protein alpha 1

ORPHA:2710

NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727

gap junction protein gamma 2

OMIM:608804

NCBI chr 1:228,149,930...228,159,826
Ensembl chr 1:228,149,930...228,159,826

GOT2

glutamic-oxaloacetic transaminase 2

OMIM:618721

NCBI chr16:58,707,131...58,734,316
Ensembl chr16:58,707,131...58,734,342

IDUA

alpha-L-iduronidase

ORPHA:93473 ORPHA:93474

NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564

interferon induced with helicase C domain 1

NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684

LSM11

LSM11, U7 small nuclear RNA associated

NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709

myelin associated glycoprotein

OMIM:616680

NCBI chr19:35,292,161...35,313,807
Ensembl chr19:35,292,125...35,313,807

MED13L

mediator complex subunit 13L

ORPHA:369891

NCBI chr12:115,958,576...116,277,693
Ensembl chr12:115,957,905...116,277,693

MICOS13

mitochondrial contact site and cristae organizing system subunit 13

ORPHA:67047

NCBI chr19:5,678,422...5,680,516
Ensembl chr19:5,678,421...5,680,516

MTHFR

methylenetetrahydrofolate reductase

ORPHA:395

NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455

MTPAP

mitochondrial poly(A) polymerase

OMIM:613672 ORPHA:254343

NCBI chr10:30,309,801...30,349,278
Ensembl chr10:30,309,801...30,374,448

mitochondrial translation release factor in rescue

ORPHA:254930 ORPHA:320375

NCBI chr12:123,232,914...123,257,960
Ensembl chr12:123,233,385...123,258,079

OPA3

outer mitochondrial membrane lipid metabolism regulator OPA3

ORPHA:67047

NCBI chr19:45,527,427...45,584,802
Ensembl chr19:45,527,767...45,602,212

PEX16

peroxisomal biogenesis factor 16

OMIM:614877

NCBI chr11:45,909,663...45,918,822
Ensembl chr11:45,909,663...45,918,812

proteolipid protein 1

ORPHA:280229

NCBI chr X:103,776,506...103,792,619
Ensembl chr X:103,773,718...103,792,619

PNP

purine nucleoside phosphorylase

ORPHA:760

NCBI chr14:20,469,406...20,477,089
Ensembl chr14:20,461,992...20,477,094

POLG

DNA polymerase gamma, catalytic subunit

ORPHA:726

NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861

POLR3GL

RNA polymerase III subunit GL

OMIM:619234

NCBI chr 1:145,964,690...145,978,848
Ensembl chr 1:145,964,690...145,978,848

PPP1R15B

protein phosphatase 1 regulatory subunit 15B

ORPHA:391408

NCBI chr 1:204,395,826...204,411,817
Ensembl chr 1:204,396,492...204,411,887

PRUNE1

prune exopolyphosphatase 1

ORPHA:544469

NCBI chr 1:151,008,449...151,035,713
Ensembl chr 1:151,008,420...151,035,713

PSEN1

presenilin 1

ClinVar Annotator: match by term: Spastic paraparesis

PMID:12493737 PMID:25741868 PMID:27930341 PMID:28492532

NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691

PTPRZ1

protein tyrosine phosphatase receptor type Z1

ClinVar Annotator: match by term: Spastic paraparesis

NCBI chr 7:121,873,161...122,062,036
Ensembl chr 7:121,873,089...122,062,036

RNASEH2A

ribonuclease H2 subunit A

NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640

ribonuclease H2 subunit B

NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120

RNASEH2C

ribonuclease H2 subunit C

NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818

RNA, U7 small nuclear 1

NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878

SAMHD1

SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893

SDHA

succinate dehydrogenase complex flavoprotein subunit A

NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082

succinate dehydrogenase complex assembly factor 1

NCBI chr19:35,995,188...35,996,312
Ensembl chr19:35,995,188...35,996,312

SDHB

succinate dehydrogenase complex iron sulfur subunit B

NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151

SDHD

succinate dehydrogenase complex subunit D

NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016

solute carrier family 25 member 15

OMIM:238970

NCBI chr13:40,789,611...40,812,460
Ensembl chr13:40,789,412...40,812,460

SLC30A10

solute carrier family 30 member 10

OMIM:613280 ORPHA:309854

NCBI chr 1:219,910,445...219,959,098
Ensembl chr 1:219,685,427...219,959,018

SOX10

SRY-box transcription factor 10

OMIM:609136

NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422

SPART

spartin

OMIM:275900 ORPHA:101000

NCBI chr13:36,301,638...36,370,180
Ensembl chr13:36,301,638...36,370,180

spastin

ClinVar Annotator: match by term: Spastic paraparesis

PMID:10610178 PMID:11309678 PMID:12161613 PMID:15716377 PMID:16009769 More...

NCBI chr 2:32,063,556...32,157,637
Ensembl chr 2:32,063,556...32,157,637

SPG11 vesicle trafficking associated, spatacsin

ClinVar Annotator: match by term: Spastic paraparesis

PMID:25741868 PMID:26374131 PMID:26467025 PMID:27790088 PMID:28492532 More...

NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688

SPG21

SPG21 abhydrolase domain containing, maspardin

OMIM:248900

NCBI chr15:64,963,022...64,989,914
Ensembl chr15:64,963,022...64,990,310

SPG7 matrix AAA peptidase subunit, paraplegin

ClinVar Annotator: match by term: Spastic paraparesis

PMID:11222789 PMID:14985266 PMID:16534102 PMID:17661097 PMID:18200586 More...

NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766

TREX1

three prime repair exonuclease 1

NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645

TRMT10A

tRNA methyltransferase 10A

ORPHA:391408

NCBI chr 4:99,546,711...99,564,039
Ensembl chr 4:99,546,709...99,564,039

TTC19

tetratricopeptide repeat domain 19

OMIM:615157

NCBI chr17:15,999,824...16,045,015
Ensembl chr17:15,999,784...16,045,015

transthyretin

NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833

WDR45

WD repeat domain 45

OMIM:300894 ORPHA:329284

NCBI chr X:49,074,442...49,101,178
Ensembl chr X:49,074,433...49,101,170

Spastic paraparetic gait

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

kinesin family member 5A

ORPHA:100991

NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633

Spastic paraplegia

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ABCA12

ATP binding cassette subfamily A member 12

OMIM:601277

NCBI chr 2:214,931,542...215,138,626
Ensembl chr 2:214,931,542...215,138,626

ATP binding cassette subfamily D member 1

ClinVar Annotator: match by term: Spastic paraplegia

PMID:8535452 PMID:9242200 PMID:9384614 PMID:9846054 PMID:10480214 More...

OMIM:300100

NCBI chr X:153,724,856...153,744,755
Ensembl chr X:153,724,856...153,744,755

ABHD16A

abhydrolase domain containing 16A, phospholipase

ClinVar Annotator: match by term: Spastic paraplegia

PMID:25741868 PMID:34587489

OMIM:619735

NCBI chr 6:31,686,955...31,703,324
Ensembl chr 6:31,686,955...31,703,356

ADAM9

ADAM metallopeptidase domain 9

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr 8:38,996,973...39,105,261
Ensembl chr 8:38,996,754...39,105,445

ADGRA2

adhesion G protein-coupled receptor A2

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr 8:37,796,883...37,844,896
Ensembl chr 8:37,784,191...37,844,896

ADRB3

adrenoceptor beta 3

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr 8:37,962,990...37,966,599
Ensembl chr 8:37,962,990...37,966,599

AIFM1

apoptosis inducing factor mitochondria associated 1

ORPHA:83629

NCBI chr X:130,129,362...130,165,841
Ensembl chr X:130,124,666...130,165,879

aldehyde dehydrogenase 18 family member A1

OMIM:601162 OMIM:616586

NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711

alsin Rho guanine nucleotide exchange factor ALS2

OMIM:607225 ORPHA:293168

NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112

AMFR

autocrine motility factor receptor

OMIM:620379

NCBI chr16:56,361,452...56,425,545
Ensembl chr16:56,361,452...56,425,545

AMPD2

adenosine monophosphate deaminase 2

OMIM:615686

NCBI chr 1:109,619,837...109,632,055
Ensembl chr 1:109,616,104...109,632,051

adaptor related protein complex 4 subunit beta 1

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21440262 More...

OMIM:614066

NCBI chr 1:113,894,194...113,905,028
Ensembl chr 1:113,894,194...113,905,712

AP4B1-AS1

AP4B1 antisense RNA 1

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9536098 PMID:17576681 PMID:21440262 PMID:21620353 PMID:22290197 More...

NCBI chr 1:113,812,612...113,901,237
Ensembl chr 1:113,856,635...113,901,237

adaptor related protein complex 4 subunit epsilon 1

ClinVar Annotator: match by term: Spastic paraplegia
ClinVar Annotator: match by term: Spastic paraplegia, lower limb

PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21620353 More...

OMIM:613744

NCBI chr15:50,907,492...51,005,895
Ensembl chr15:50,908,672...51,005,895

adaptor related protein complex 4 subunit mu 1

ClinVar Annotator: match by term: Spastic paraplegia

PMID:21937992 PMID:24700674 PMID:25326635 PMID:25496299 PMID:25558065 More...

NCBI chr 7:100,100,794...100,109,039
Ensembl chr 7:100,100,858...100,110,345

adaptor related protein complex 4 subunit sigma 1

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21620353 More...

OMIM:614067

NCBI chr14:31,025,106...31,096,450
Ensembl chr14:31,025,106...31,130,996

adaptor related protein complex 5 subunit zeta 1

ClinVar Annotator: match by term: Spastic paraplegia

OMIM:613647

NCBI chr 7:4,775,623...4,794,397
Ensembl chr 7:4,775,615...4,794,397

ARHGAP4

Rho GTPase activating protein 4

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:153,907,378...153,926,264
Ensembl chr X:153,907,367...153,934,999

ARHGEF25

Rho guanine nucleotide exchange factor 25

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr12:57,610,116...57,617,245
Ensembl chr12:57,610,180...57,617,245

ARL6IP1

ADP ribosylation factor like GTPase 6 interacting protein 1

OMIM:615685

NCBI chr16:18,791,667...18,801,549
Ensembl chr16:18,791,669...18,801,572

ARPP19

cAMP regulated phosphoprotein 19

ClinVar Annotator: match by term: Spastic paraplegia

PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 More...

NCBI chr15:52,547,045...52,569,446
Ensembl chr15:52,547,045...52,569,883

arylsulfatase family member I

ClinVar Annotator: match by term: Spastic paraplegia

PMID:25741868 PMID:28492532 PMID:28832565

NCBI chr 5:150,296,343...150,302,905
Ensembl chr 5:150,296,343...150,339,307

ASH2L

ASH2 like, histone lysine methyltransferase complex subunit

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr 8:38,105,493...38,140,080
Ensembl chr 8:38,105,493...38,144,076

ATL1

atlastin GTPase 1

ClinVar Annotator: match by term: Spastic paraplegia

PMID:8252041 PMID:11685207 PMID:14607301 PMID:15517445 PMID:16537571 More...

OMIM:182600

NCBI chr14:50,533,082...50,633,068
Ensembl chr14:50,532,509...50,634,017

ATOSA

atos homolog A

ClinVar Annotator: match by term: Spastic paraplegia

PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 More...

NCBI chr15:52,581,321...52,709,815
Ensembl chr15:52,581,317...52,709,817

ATPase cation transporting 13A2

OMIM:606693 OMIM:617225

NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928

ATP2B3

ATPase plasma membrane Ca2+ transporting 3

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:153,517,642...153,582,929
Ensembl chr X:153,517,642...153,582,939

ATP5F1A

ATP synthase F1 subunit alpha

NCBI chr18:46,080,248...46,104,227
Ensembl chr18:46,080,248...46,104,334

ATP5F1D

ATP synthase F1 subunit delta

NCBI chr19:1,241,751...1,244,825
Ensembl chr19:1,241,746...1,244,825

ATP5F1E

ATP synthase F1 subunit epsilon

NCBI chr20:59,025,475...59,032,335
Ensembl chr20:59,025,475...59,032,345

ATP5MC3

ATP synthase membrane subunit c locus 3

OMIM:619681

NCBI chr 2:175,176,258...175,181,710
Ensembl chr 2:175,176,258...175,181,710

ATP5MK

ATP synthase membrane subunit k

NCBI chr10:103,389,050...103,396,475
Ensembl chr10:103,389,041...103,396,492

ATP6AP1

ATPase H+ transporting accessory protein 1

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:154,428,677...154,436,516
Ensembl chr X:154,428,633...154,436,516

ATP6V0A2

ATPase H+ transporting V0 subunit a2

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,353...123,761,755

ATPAF1

ATP synthase mitochondrial F1 complex assembly factor 1

NCBI chr 1:46,632,737...46,668,557
Ensembl chr 1:46,632,737...46,673,867

ATPAF2

ATP synthase mitochondrial F1 complex assembly factor 2

NCBI chr17:18,015,059...18,039,168
Ensembl chr17:17,977,409...18,039,209

ATRX

ATRX chromatin remodeler

ORPHA:847

NCBI chr X:77,504,880...77,786,216
Ensembl chr X:77,504,880...77,786,233

AVPR2

arginine vasopressin receptor 2

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:153,902,625...153,907,166
Ensembl chr X:153,902,531...153,907,166

beta-1,4-N-acetyl-galactosaminyltransferase 1

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9536098 PMID:16199547 PMID:17576681 PMID:23746551 PMID:24103911 More...

OMIM:609195

NCBI chr12:57,623,409...57,633,201
Ensembl chr12:57,623,409...57,633,239

BAG4

BAG cochaperone 4

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr 8:38,176,855...38,213,301
Ensembl chr 8:38,176,533...38,213,301

BCAP31

B cell receptor associated protein 31

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:153,700,492...153,724,387
Ensembl chr X:153,700,492...153,724,565

BCAR1

BCAR1 scaffold protein, Cas family member

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr16:75,228,181...75,268,007
Ensembl chr16:75,228,181...75,268,053

BCL2L10

BCL2 like 10

ClinVar Annotator: match by term: Spastic paraplegia

PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 More...

NCBI chr15:52,109,263...52,112,775
Ensembl chr15:52,109,263...52,112,775

BGN

biglycan

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:153,494,980...153,509,546
Ensembl chr X:153,494,980...153,509,546

BICD2

BICD cargo adaptor 2

ClinVar Annotator: match by term: Spastic paraplegia, lower limb

PMID:25741868 PMID:26998597 PMID:28492532

NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833

BIRC6

baculoviral IAP repeat containing 6

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr 2:32,357,023...32,618,878
Ensembl chr 2:32,357,023...32,619,571

BRCC3

BRCA1/BRCA2-containing complex subunit 3

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:155,071,508...155,123,077
Ensembl chr X:155,071,420...155,123,077

BRF2

BRF2 RNA polymerase III transcription initiation factor subunit

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr 8:37,843,268...37,849,861
Ensembl chr 8:37,843,268...37,849,861

BSCL2 lipid droplet biogenesis associated, seipin

OMIM:270685

NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845

C19orf12

chromosome 19 open reading frame 12

OMIM:615043

NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789

CACNA1D

calcium voltage-gated channel subunit alpha1 D

ORPHA:369929

NCBI chr 3:53,494,611...53,813,733
Ensembl chr 3:53,328,963...53,813,733

calpain 1

NCBI chr11:65,181,373...65,212,006
Ensembl chr11:65,180,566...65,212,006

CCNQ

cyclin Q

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:153,587,925...153,599,139
Ensembl chr X:153,587,925...153,600,045

chaperonin containing TCP1 subunit 5

OMIM:256840 ORPHA:139578

NCBI chr 5:10,249,921...10,266,412
Ensembl chr 5:10,249,929...10,266,389

CDK2AP1

cyclin dependent kinase 2 associated protein 1

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr12:123,260,976...123,272,240
Ensembl chr12:123,250,112...123,272,334

CFDP1

craniofacial development protein 1

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr16:75,293,710...75,433,503
Ensembl chr16:75,293,698...75,433,503

CLIC2

chloride intracellular channel 2

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:155,276,211...155,334,614
Ensembl chr X:155,276,211...155,334,657

CMC4

C-X9-C motif containing 4

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:155,061,622...155,071,136
Ensembl chr X:155,061,622...155,071,136

carnitine palmitoyltransferase 1C

ClinVar Annotator: match by term: Spastic paraplegia

OMIM:616282

NCBI chr19:49,690,662...49,713,731
Ensembl chr19:49,690,898...49,713,731

CTAG1A

cancer/testis antigen 1A

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:154,585,133...154,586,816
Ensembl chr X:154,585,133...154,586,816

CTAG1B

cancer/testis antigen 1B

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:154,617,609...154,619,282
Ensembl chr X:154,617,609...154,619,282

CTAG2

cancer/testis antigen 2

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:154,651,977...154,653,579
Ensembl chr X:154,651,972...154,653,579

CTRB1

chymotrypsinogen B1

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr16:75,218,988...75,224,924
Ensembl chr16:75,218,988...75,226,338

CTRB2

chymotrypsinogen B2

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr16:75,204,103...75,207,161
Ensembl chr16:75,204,103...75,207,161

CYP19A1

cytochrome P450 family 19 subfamily A member 1

ClinVar Annotator: match by term: Spastic paraplegia

PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 More...

NCBI chr15:51,208,057...51,338,596
Ensembl chr15:51,208,057...51,338,601

CYP2U1

cytochrome P450 family 2 subfamily U member 1

ClinVar Annotator: match by term: Spastic paraplegia

PMID:615030 PMID:14660610 PMID:16199547 PMID:23176821 PMID:25558065 More...

OMIM:615030 ORPHA:320411

NCBI chr 4:107,931,549...107,953,461
Ensembl chr 4:107,931,549...107,953,461

CYP2U1-AS1

CYP2U1 and SGMS2 antisense RNA 1

ClinVar Annotator: match by term: Spastic paraplegia

PMID:23176821 PMID:25741868 PMID:26936192 PMID:27292318 PMID:28492532 More...

NCBI chr 4:107,863,479...107,932,119
Ensembl chr 4:107,863,473...107,989,724

cytochrome P450 family 7 subfamily B member 1

ClinVar Annotator: match by term: Spastic paraplegia

PMID:1943942 PMID:7987300 PMID:9536098 PMID:9802883 PMID:12874406 More...

OMIM:270800 ORPHA:100986

NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737

DCTN2

dynactin subunit 2

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr12:57,530,051...57,547,192
Ensembl chr12:57,529,633...57,547,224

DDHD domain containing 1

OMIM:609340

NCBI chr14:53,036,755...53,153,323
Ensembl chr14:53,036,745...53,153,323

DDHD2

DDHD domain containing 2

ClinVar Annotator: match by term: Spastic paraplegia

OMIM:615033 ORPHA:320380

NCBI chr 8:38,231,585...38,273,647
Ensembl chr 8:38,225,218...38,275,558

DDIT3

DNA damage inducible transcript 3

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr12:57,516,588...57,520,517
Ensembl chr12:57,516,588...57,521,737

DDX55

DEAD-box helicase 55

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr12:123,602,099...123,620,943
Ensembl chr12:123,602,077...123,620,943

DKC1

dyskerin pseudouridine synthase 1

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:154,762,864...154,777,689
Ensembl chr X:154,762,742...154,777,689

DMXL2

Dmx like 2

ClinVar Annotator: match by term: Spastic paraplegia

PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 More...

NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833

DNASE1L1

deoxyribonuclease 1 like 1

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:154,401,236...154,412,101
Ensembl chr X:154,401,236...154,412,112

dynamin 1 like

NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650

DPY30

dpy-30 histone methyltransferase complex regulatory subunit

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr 2:32,011,649...32,039,835
Ensembl chr 2:31,867,809...32,039,805

DSTYK

dual serine/threonine and tyrosine protein kinase

OMIM:270750 ORPHA:101003

NCBI chr 1:205,142,505...205,211,702
Ensembl chr 1:205,142,505...205,211,702

DTX3

deltex E3 ubiquitin ligase 3

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr12:57,604,824...57,609,802
Ensembl chr12:57,604,622...57,609,804

DUSP9

dual specificity phosphatase 9

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:153,642,441...153,651,326
Ensembl chr X:153,642,492...153,651,326

EGR2

early growth response 2

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr10:62,811,996...62,819,167
Ensembl chr10:62,811,996...62,819,167

EIF2B1

eukaryotic translation initiation factor 2B subunit alpha

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr12:123,620,406...123,633,686
Ensembl chr12:123,620,406...123,633,766

EIF4EBP1

eukaryotic translation initiation factor 4E binding protein 1

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr 8:38,030,534...38,060,365
Ensembl chr 8:38,030,534...38,060,365

ELOVL1

ELOVL fatty acid elongase 1

OMIM:618527

NCBI chr 1:43,363,401...43,368,011
Ensembl chr 1:43,363,398...43,368,074

EMD

emerin

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:154,379,295...154,381,523
Ensembl chr X:154,379,273...154,381,574

ENTPD1

ectonucleoside triphosphate diphosphohydrolase 1

OMIM:615683

NCBI chr10:95,694,186...95,877,266
Ensembl chr10:95,711,779...95,877,266

ER lipid raft associated 2

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21330303 More...

OMIM:611225

NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422

coagulation factor VIII

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:154,835,792...155,022,723
Ensembl chr X:154,835,788...155,026,940

F8A1

coagulation factor VIII associated 1

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:154,886,355...154,888,061
Ensembl chr X:154,886,355...154,888,061

F8A2

coagulation factor VIII associated 2

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:155,382,095...155,383,801
Ensembl chr X:155,382,095...155,383,801

F8A3

coagulation factor VIII associated 3

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:155,456,914...155,458,620
Ensembl chr X:155,456,914...155,458,620

fatty acid 2-hydroxylase

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20104589 More...

OMIM:612319 ORPHA:171629

NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831

FAM3A

FAM3 metabolism regulating signaling molecule A

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:154,506,171...154,516,232
Ensembl chr X:154,506,159...154,516,242

FAM50A

family with sequence similarity 50 member A

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:154,444,141...154,450,654
Ensembl chr X:154,444,141...154,450,654

phenylalanyl-tRNA synthetase 2, mitochondrial

OMIM:617046

NCBI chr 6:5,249,934...5,771,583
Ensembl chr 6:5,261,044...5,829,192

FGFR1

fibroblast growth factor receptor 1

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834

FLNA

filamin A

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634

FUNDC2

FUN14 domain containing 2

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:155,026,844...155,060,304
Ensembl chr X:155,025,980...155,060,304

G6PD

glucose-6-phosphate dehydrogenase

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:154,531,390...154,547,569
Ensembl chr X:154,517,825...154,547,572

GAB3

GRB2 associated binding protein 3

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:154,675,249...154,751,566
Ensembl chr X:154,675,249...154,751,583

gigaxonin

NCBI chr16:81,314,962...81,390,809
Ensembl chr16:81,314,944...81,390,809

glucosylceramidase beta 1

ORPHA:2072

NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699

glucosylceramidase beta 2

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9536098 PMID:16199547 PMID:17576681 PMID:23332916 PMID:23332917 More...

OMIM:614409

NCBI chr 9:35,736,866...35,749,228
Ensembl chr 9:35,736,866...35,749,228

GBE1

1,4-alpha-glucan branching enzyme 1

OMIM:263570

NCBI chr 3:81,489,703...81,761,645
Ensembl chr 3:81,489,703...81,761,645

GDI1

GDP dissociation inhibitor 1

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:154,437,154...154,443,467
Ensembl chr X:154,436,913...154,443,467

gap junction protein gamma 2

ClinVar Annotator: match by term: Spastic paraplegia

PMID:8733901 PMID:9536098 PMID:15192806 PMID:17576681 PMID:18094336 More...

OMIM:613206

NCBI chr 1:228,149,930...228,159,826
Ensembl chr 1:228,149,930...228,159,826

GLDN

gliomedin

ClinVar Annotator: match by term: Spastic paraplegia

PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 More...

NCBI chr15:51,341,655...51,413,365
Ensembl chr15:51,341,655...51,408,005

GLG1

golgi glycoprotein 1

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr16:74,447,440...74,607,114
Ensembl chr16:74,447,427...74,607,144

GNB5

G protein subunit beta 5

ClinVar Annotator: match by term: Spastic paraplegia

PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 More...

NCBI chr15:52,115,100...52,191,392
Ensembl chr15:52,115,100...52,191,392

GOT1L1

glutamic-oxaloacetic transaminase 1 like 1

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr 8:37,934,281...37,940,124
Ensembl chr 8:37,934,281...37,940,124

GPT2

glutamic--pyruvic transaminase 2

ORPHA:477673

NCBI chr16:46,884,362...46,931,289
Ensembl chr16:46,884,362...46,931,289

GTF2H3

general transcription factor IIH subunit 3

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr12:123,633,829...123,662,604
Ensembl chr12:123,633,739...123,662,604

H2AB1

H2A.B variant histone 1

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:154,884,972...154,885,558
Ensembl chr X:154,884,972...154,885,558

H2AB2

H2A.B variant histone 2

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:155,380,709...155,381,299
Ensembl chr X:155,380,709...155,381,299

H2AB3

H2A.B variant histone 3

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:155,459,415...155,460,005
Ensembl chr X:155,459,415...155,460,005

HAUS7

HAUS augmin like complex subunit 7

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:153,447,668...153,495,465
Ensembl chr X:153,447,668...153,495,516

HCFC1

host cell factor C1

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:153,947,557...153,971,818
Ensembl chr X:153,947,557...153,971,818

HPDL

4-hydroxyphenylpyruvate dioxygenase like

ClinVar Annotator: match by term: Spastic paraplegia

PMID:25741868 PMID:32707086 PMID:33188300 PMID:33970200

OMIM:619026 OMIM:619027

NCBI chr 1:45,326,895...45,328,710
Ensembl chr 1:45,326,895...45,328,710

hydroxysteroid 17-beta dehydrogenase 10

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr X:53,431,258...53,434,376
Ensembl chr X:53,431,258...53,434,370

heat shock protein family D (Hsp60) member 1

ClinVar Annotator: match by term: Spastic paraplegia

OMIM:605280 OMIM:612233 ORPHA:100994

PMID:9536098 PMID:17072495 PMID:17420924 PMID:17576681 PMID:18414213 More...

NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737

HTRA4

HtrA serine peptidase 4

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr 8:38,974,228...38,988,663
Ensembl chr 8:38,974,228...38,988,663

IBA57

iron-sulfur cluster assembly factor IBA57

ClinVar Annotator: match by term: Spastic paraplegia

OMIM:616451

NCBI chr 1:228,165,804...228,182,257
Ensembl chr 1:228,165,804...228,182,257

IDH3G

isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:153,785,768...153,794,375
Ensembl chr X:153,785,766...153,794,512

IKBKG

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:154,541,238...154,565,046
Ensembl chr X:154,541,199...154,565,046

INTS8

integrator complex subunit 8

OMIM:618572

NCBI chr 8:94,823,287...94,881,746
Ensembl chr 8:94,813,311...94,881,746

IQSEC2

IQ motif and Sec7 domain ArfGEF 2

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr X:53,225,813...53,321,350
Ensembl chr X:53,225,828...53,321,350

IRAK1

interleukin 1 receptor associated kinase 1

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:154,010,507...154,019,902
Ensembl chr X:154,010,506...154,019,902

IRF2BPL

interferon regulatory factor 2 binding protein like

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr14:77,024,543...77,028,708
Ensembl chr14:77,024,543...77,028,708

KDM5C

lysine demethylase 5C

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9536098 PMID:15586325 PMID:16199547 PMID:16541399 PMID:17576681 More...

NCBI chr X:53,176,277...53,225,207
Ensembl chr X:53,176,283...53,225,422

KIDINS220

kinase D interacting substrate 220

OMIM:617296

NCBI chr 2:8,721,081...8,837,613
Ensembl chr 2:8,721,081...8,837,630

kinesin family member 1A

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9536098 PMID:17576681 PMID:24088041 PMID:25265257 PMID:25326635 More...

OMIM:610357

NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293

kinesin family member 5A

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9536098 PMID:15452312 PMID:16199547 PMID:16476820 PMID:16489470 More...

OMIM:604187

NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633

KLC2

kinesin light chain 2

OMIM:609541

NCBI chr11:66,243,938...66,267,860
Ensembl chr11:66,257,294...66,267,860

KMT5A

lysine methyltransferase 5A

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr12:123,384,132...123,409,353
Ensembl chr12:123,384,132...123,409,353

L1CAM

L1 cell adhesion molecule

ClinVar Annotator: match by term: Spastic paraplegia
ClinVar Annotator: match by term: Spastic paraplegia, lower limb

OMIM:303350 OMIM:307000 ORPHA:2466 ORPHA:306617

PMID:7562969 PMID:7762552 PMID:7920659 PMID:8062435 PMID:8069317 More...

NCBI chr X:153,861,514...153,886,173
Ensembl chr X:153,861,514...153,886,173

LAGE3

L antigen family member 3

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:154,477,775...154,479,281
Ensembl chr X:154,477,775...154,479,281

LAMB1

laminin subunit beta 1

OMIM:615191

NCBI chr 7:107,923,799...108,003,161
Ensembl chr 7:107,923,799...108,003,213

LDHD

lactate dehydrogenase D

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr16:75,111,864...75,116,780
Ensembl chr16:75,111,860...75,116,780

LEO1

LEO1 homolog, Paf1/RNA polymerase II complex component

ClinVar Annotator: match by term: Spastic paraplegia

PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 More...

NCBI chr15:51,938,025...51,971,778
Ensembl chr15:51,938,025...51,971,778

LETM2

leucine zipper and EF-hand containing transmembrane protein 2

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr 8:38,382,431...38,409,527
Ensembl chr 8:38,386,207...38,409,527

LINC00362

long intergenic non-protein coding RNA 362

ClinVar Annotator: match by term: Spastic paraplegia

PMID:18285821 PMID:18398442 PMID:19031088 PMID:19208398 PMID:19892370 More...

NCBI chr13:23,169,829...23,170,872
Ensembl chr13:23,169,835...23,170,597

LINC03042

long intergenic non-protein coding RNA 3042

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr 8:38,510,834...38,528,662
Ensembl chr 8:38,510,834...38,560,939

LOC129930439

ATAC-STARR-seq lymphoblastoid active region 964

ClinVar Annotator: match by term: Spastic paraplegia

PMID:25741868 PMID:33970200

NCBI chr 1:45,326,987...45,327,236

LOC129930440

ATAC-STARR-seq lymphoblastoid active region 965

ClinVar Annotator: match by term: Spastic paraplegia

PMID:32707086 PMID:33970200

NCBI chr 1:45,327,997...45,328,106

LOC129992929

ATAC-STARR-seq lymphoblastoid active region 21791

ClinVar Annotator: match by term: Spastic paraplegia

PMID:23176821 PMID:25741868 PMID:26936192 PMID:27292318 PMID:28492532

NCBI chr 4:107,932,087...107,932,156

LOC130000507

ATAC-STARR-seq lymphoblastoid silent region 19243

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr 8:64,798,535...64,798,644

LOC130007245

ATAC-STARR-seq lymphoblastoid silent region 4163

ClinVar Annotator: match by term: Spastic paraplegia

PMID:28253535 PMID:28492532

NCBI chr12:6,470,159...6,470,208

LOC130009362

ATAC-STARR-seq lymphoblastoid active region 7449

ClinVar Annotator: match by term: Spastic paraplegia

PMID:18285821 PMID:18398442 PMID:19031088 PMID:19208398 PMID:19892370 More...

NCBI chr13:23,268,471...23,268,680

LOC130009363

ATAC-STARR-seq lymphoblastoid active region 7450

ClinVar Annotator: match by term: Spastic paraplegia

PMID:18285821 PMID:18398442 PMID:19031088 PMID:19208398 PMID:19892370 More...

NCBI chr13:23,321,450...23,321,639

LOC130009364

ATAC-STARR-seq lymphoblastoid active region 7451

ClinVar Annotator: match by term: Spastic paraplegia

PMID:18285821 PMID:18398442 PMID:19031088 PMID:19208398 PMID:19892370 More...

NCBI chr13:23,321,650...23,321,739

LOC130009365

ATAC-STARR-seq lymphoblastoid silent region 5171

ClinVar Annotator: match by term: Spastic paraplegia

PMID:18285821 PMID:18398442 PMID:19031088 PMID:19208398 PMID:24180463 More...

NCBI chr13:23,374,978...23,375,047

LOC130009366

ATAC-STARR-seq lymphoblastoid silent region 5172

ClinVar Annotator: match by term: Spastic paraplegia

PMID:16199547 PMID:18285821 PMID:18398442 PMID:18465152 PMID:19031088 More...

NCBI chr13:23,375,088...23,375,897

LOC130009367

ATAC-STARR-seq lymphoblastoid active region 7452

ClinVar Annotator: match by term: Spastic paraplegia

PMID:18285821 PMID:18398442 PMID:19031088 PMID:19208398 PMID:24180463 More...

NCBI chr13:23,378,470...23,378,609

LOC130009368

ATAC-STARR-seq lymphoblastoid active region 7453

ClinVar Annotator: match by term: Spastic paraplegia

PMID:18285821 PMID:18398442 PMID:19031088 PMID:19208398 PMID:24180463 More...

NCBI chr13:23,384,110...23,384,169

LOC130009369

ATAC-STARR-seq lymphoblastoid active region 7454

ClinVar Annotator: match by term: Spastic paraplegia

PMID:18285821 PMID:18398442 PMID:19031088 PMID:19208398 PMID:24180463 More...

NCBI chr13:23,384,190...23,384,419

LOC130056709

ATAC-STARR-seq lymphoblastoid silent region 6259

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr15:22,786,512...22,786,871

LOC130059393

ATAC-STARR-seq lymphoblastoid silent region 7700

ClinVar Annotator: match by term: Spastic paraplegia

PMID:20853438 PMID:25496456 PMID:25732363 PMID:26344562 PMID:28492532

NCBI chr16:74,774,457...74,774,506

LOC130059394

ATAC-STARR-seq lymphoblastoid silent region 7701

ClinVar Annotator: match by term: Spastic paraplegia

PMID:20104589 PMID:20853438 PMID:25496456 PMID:25732363 PMID:25741868 More...

NCBI chr16:74,774,547...74,774,916

LOC130068308

ATAC-STARR-seq lymphoblastoid active region 29656

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr X:53,224,749...53,224,848

LOC130068443

ATAC-STARR-seq lymphoblastoid active region 29766

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr X:74,510,721...74,510,770

LOC132090179

Neanderthal introgressed variant-containing enhancer experimental_32684

ClinVar Annotator: match by term: Spastic paraplegia

PMID:18285821 PMID:18398442 PMID:19031088 PMID:19208398 PMID:19892370 More...

NCBI chr13:23,147,619...23,147,788

LSM1

LSM1 homolog, mRNA degradation associated

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr 8:38,163,321...38,176,730
Ensembl chr 8:38,163,335...38,176,730

LYSMD2

LysM domain containing 2

ClinVar Annotator: match by term: Spastic paraplegia

PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 More...

NCBI chr15:51,723,011...51,751,451
Ensembl chr15:51,723,011...51,751,585

LYST

lysosomal trafficking regulator

ORPHA:167

NCBI chr 1:235,661,031...235,883,713
Ensembl chr 1:235,661,041...235,883,724

myelin associated glycoprotein

ORPHA:459056

NCBI chr19:35,292,161...35,313,807
Ensembl chr19:35,292,125...35,313,807

MAGEA1

MAGE family member A1

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:153,179,284...153,183,880
Ensembl chr X:153,179,284...153,183,880

MAN2B1

mannosidase alpha class 2B member 1

ORPHA:309282

NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,646,511...12,666,742

MAPK6

mitogen-activated protein kinase 6

ClinVar Annotator: match by term: Spastic paraplegia

PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 More...

NCBI chr15:51,971,825...52,067,375
Ensembl chr15:51,952,106...52,067,375

methionyl-tRNA synthetase 1

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569

MBD6

methyl-CpG binding domain protein 6

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr12:57,520,715...57,531,545
Ensembl chr12:57,520,710...57,530,148

methyl-CpG binding protein 2

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

OMIM:300055

NCBI chr X:154,021,573...154,097,717
Ensembl chr X:154,021,573...154,137,103

MIPEP

mitochondrial intermediate peptidase

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr13:23,730,189...23,889,400
Ensembl chr13:23,730,189...23,889,400

MIR616

microRNA 616

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr12:57,519,163...57,519,259
Ensembl chr12:57,519,163...57,519,259

MIR6894

microRNA 6894

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr X:53,198,889...53,198,945
Ensembl chr X:53,198,889...53,198,945

MIR6895

microRNA 6895

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr X:53,195,411...53,195,488
Ensembl chr X:53,195,411...53,195,488

MLKL

mixed lineage kinase domain like pseudokinase

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr16:74,671,855...74,700,862
Ensembl chr16:74,671,855...74,700,960

MPP1

MAGUK p55 scaffold protein 1

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:154,778,684...154,805,485
Ensembl chr X:154,778,684...154,821,007

mitochondrially encoded ATP synthase membrane subunit 6

NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207

MT-ATP8

mitochondrially encoded ATP synthase membrane subunit 8

NCBI chr MT:8,366...8,572
Ensembl chr MT:8,366...8,572

MTCP1

mature T cell proliferation 1

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:155,064,034...155,071,136
Ensembl chr X:155,064,034...155,147,937

MTM1

myotubularin 1

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9285787 PMID:9305655 PMID:10790201 PMID:11793470 PMID:12646134 More...

NCBI chr X:150,562,653...150,673,143
Ensembl chr X:150,568,417...150,673,143

mitochondrial translation release factor in rescue

ClinVar Annotator: match by term: Spastic paraplegia, lower limb

PMID:20598281 PMID:23188110 PMID:24033266 PMID:24284555 PMID:24424123 More...

OMIM:615035

NCBI chr12:123,232,914...123,257,960
Ensembl chr12:123,233,385...123,258,079

MYO5A

myosin VA

ClinVar Annotator: match by term: Spastic paraplegia

PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 More...

NCBI chr15:52,307,283...52,529,050
Ensembl chr15:52,307,281...52,529,132

MYO5C

myosin VC

ClinVar Annotator: match by term: Spastic paraplegia

PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 More...

NCBI chr15:52,192,322...52,295,804
Ensembl chr15:52,192,322...52,295,804

NAA10

N-alpha-acetyltransferase 10, NatA catalytic subunit

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:153,929,225...153,935,037
Ensembl chr X:153,929,225...153,935,080

NIPA1

NIPA magnesium transporter 1

ClinVar Annotator: match by term: Spastic paraplegia

PMID:15643603 PMID:15711826 PMID:16267846 PMID:17092466 PMID:17166836 More...

OMIM:600363 ORPHA:100988

NCBI chr15:22,786,225...22,829,789
Ensembl chr15:22,773,063...22,829,789

NLRC4

NLR family CARD domain containing 4

ClinVar Annotator: match by term: Spastic paraplegia

PMID:32581362

NCBI chr 2:32,224,449...32,265,743
Ensembl chr 2:32,224,453...32,265,732

NSD3

nuclear receptor binding SET domain protein 3

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr 8:38,269,704...38,382,271
Ensembl chr 8:38,269,704...38,382,272

NSDHL

NAD(P) dependent steroid dehydrogenase-like

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:152,831,063...152,869,729
Ensembl chr X:152,830,967...152,869,729

NT5C2

5'-nucleotidase, cytosolic II

OMIM:613162 ORPHA:320396

NCBI chr10:103,088,017...103,193,272
Ensembl chr10:103,087,185...103,277,605

ONECUT1

one cut homeobox 1

ClinVar Annotator: match by term: Spastic paraplegia

PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 More...

NCBI chr15:52,755,053...52,790,336
Ensembl chr15:52,755,053...52,791,078

OPA1 mitochondrial dynamin like GTPase

ORPHA:1215 ORPHA:98673

NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811

OPN1LW

opsin 1, long wave sensitive

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:154,144,243...154,159,032
Ensembl chr X:154,144,243...154,159,032

OPN1MW

opsin 1, medium wave sensitive

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:154,182,596...154,196,861
Ensembl chr X:154,182,596...154,196,861

OPN1MW2

opsin 1, medium wave sensitive 2

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:154,219,756...154,233,286
Ensembl chr X:154,219,756...154,233,286

PAX3

paired box 3

OMIM:148820 ORPHA:896

NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998

PCOTH

prostate and testis expressed opposite C1QTNF9B and MIPEP

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr13:23,888,868...23,892,103
Ensembl chr13:23,888,842...23,897,263

PDHX

pyruvate dehydrogenase complex component X

OMIM:245349

NCBI chr11:34,915,920...34,996,128
Ensembl chr11:34,915,829...35,020,591

PDZD4

PDZ domain containing 4

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:153,802,166...153,830,544
Ensembl chr X:153,802,166...153,830,565

PEX3

peroxisomal biogenesis factor 3

OMIM:617370

NCBI chr 6:143,450,805...143,490,616
Ensembl chr 6:143,450,805...143,490,616

phosphatidylinositol 4-kinase alpha

OMIM:619621

NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417

PIP4K2C

phosphatidylinositol-5-phosphate 4-kinase type 2 gamma

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr12:57,591,192...57,603,418
Ensembl chr12:57,591,174...57,603,418

PLEKHA2

pleckstrin homology domain containing A2

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr 8:38,901,346...38,973,912
Ensembl chr 8:38,901,235...38,973,912

proteolipid protein 1

OMIM:312080 OMIM:312920

NCBI chr X:103,776,506...103,792,619
Ensembl chr X:103,773,718...103,792,619

PLPBP

pyridoxal phosphate binding protein

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr 8:37,762,546...37,779,768
Ensembl chr 8:37,762,595...37,779,768

PLPP5

phospholipid phosphatase 5

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr 8:38,263,130...38,269,224
Ensembl chr 8:38,263,130...38,269,243

PLXNA3

plexin A3

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:154,458,281...154,477,779
Ensembl chr X:154,458,281...154,477,779

PLXNB3

plexin B3

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:153,764,249...153,779,341
Ensembl chr X:153,764,196...153,779,346

PNCK

pregnancy up-regulated nonubiquitous CaM kinase

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:153,669,733...153,687,771
Ensembl chr X:153,669,733...153,689,010

PNMA3

PNMA family member 3

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:153,056,470...153,060,462
Ensembl chr X:153,056,409...153,060,467

PNMA5

PNMA family member 5

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:152,988,824...152,994,116
Ensembl chr X:152,988,824...152,994,116

PNMA6A

PNMA family member 6A

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:153,072,454...153,075,019
Ensembl chr X:153,072,454...153,075,019

PNMA6E

PNMA family member 6E

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:153,395,639...153,414,004
Ensembl chr X:153,395,639...153,401,392

patatin like phospholipase domain containing 6

OMIM:245800 ORPHA:139480

NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764

RAB11FIP1

RAB11 family interacting protein 1

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr 8:37,858,618...37,899,497
Ensembl chr 8:37,858,618...37,899,497

RAB39B

RAB39B, member RAS oncogene family

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:155,258,235...155,264,491
Ensembl chr X:155,258,235...155,264,491

RAP1GDS1

Rap1 GTPase-GDP dissociation stimulator 1

OMIM:620655

NCBI chr 4:98,261,384...98,443,858
Ensembl chr 4:98,261,384...98,443,858

RDH11

retinol dehydrogenase 11

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr14:67,676,800...67,695,764
Ensembl chr14:67,676,800...67,695,793

RDH12

retinol dehydrogenase 12

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr14:67,701,886...67,734,451
Ensembl chr14:67,701,886...67,734,451

receptor accessory protein 1

ClinVar Annotator: match by term: Spastic paraplegia

PMID:16199547 PMID:16826527 PMID:18321925 PMID:18644145 PMID:20718791 More...

OMIM:610250

NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083

REEP2

receptor accessory protein 2

OMIM:615625

NCBI chr 5:138,439,057...138,446,965
Ensembl chr 5:138,439,057...138,446,969

RENBP

renin binding protein

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:153,935,269...153,944,643
Ensembl chr X:153,935,269...153,944,687

RFWD3

ring finger and WD repeat domain 3

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877

RIBC1

RIB43A domain with coiled-coils 1

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr X:53,422,873...53,431,115
Ensembl chr X:53,422,690...53,431,120

RILPL1

Rab interacting lysosomal protein like 1

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr12:123,470,054...123,533,719
Ensembl chr12:123,470,054...123,533,719

RILPL2

Rab interacting lysosomal protein like 2

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr12:123,409,306...123,436,684
Ensembl chr12:123,415,039...123,436,684

ribonuclease H2 subunit B

OMIM:610181

NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120

RNF170

ring finger protein 170

ClinVar Annotator: match by term: Spastic paraplegia

PMID:25741868 PMID:31636353

OMIM:619686

NCBI chr 8:42,849,637...42,897,299
Ensembl chr 8:42,849,637...42,897,290

RNF220

ring finger protein 220

OMIM:619688

NCBI chr 1:44,404,783...44,651,724
Ensembl chr 1:44,405,194...44,651,723

RPL10

ribosomal protein L10

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:154,398,065...154,402,339
Ensembl chr X:154,389,955...154,409,168

RTN2

reticulon 2

ClinVar Annotator: match by term: Spastic paraplegia
ClinVar Annotator: match by term: Spastic paraplegia, lower limb

PMID:9536098 PMID:16199547 PMID:17576681 PMID:22232211 PMID:24123792 More...

OMIM:604805

NCBI chr19:45,485,294...45,497,047
Ensembl chr19:45,485,294...45,497,055

sacsin molecular chaperone

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9536098 PMID:9892370 PMID:10053011 PMID:10610707 PMID:10655055 More...

NCBI chr13:23,328,830...23,433,702
Ensembl chr13:23,288,689...23,433,763

SBNO1

strawberry notch homolog 1

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr12:123,289,109...123,364,847
Ensembl chr12:123,289,109...123,364,847

SCG3

secretogranin III

ClinVar Annotator: match by term: Spastic paraplegia

PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 More...

NCBI chr15:51,681,503...51,721,026
Ensembl chr15:51,681,492...51,721,026

SETX

senataxin

ClinVar Annotator: match by term: Spastic paraplegia, lower limb

PMID:17159128 PMID:19569000 PMID:20981092 PMID:23941260 PMID:25741868 More...

ORPHA:357043

NCBI chr 9:132,261,356...132,356,744
Ensembl chr 9:132,261,356...132,354,986

SGCG

sarcoglycan gamma

ClinVar Annotator: match by term: Spastic paraplegia

PMID:18285821 PMID:18398442 PMID:19031088 PMID:19208398 PMID:19892370 More...

NCBI chr13:23,160,508...23,325,162
Ensembl chr13:23,180,979...23,325,162

SLC10A3

solute carrier family 10 member 3

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:154,487,311...154,490,629
Ensembl chr X:154,487,306...154,490,690

SLC16A2

solute carrier family 16 member 2

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9536098 PMID:15488219 PMID:15889350 PMID:15980113 PMID:16199547 More...

OMIM:300523

NCBI chr X:74,421,493...74,533,916
Ensembl chr X:74,421,493...74,533,917

SLC19A3

solute carrier family 19 member 3

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr 2:227,683,763...227,718,028
Ensembl chr 2:227,683,763...227,718,028

solute carrier family 25 member 15

OMIM:238970 ORPHA:415

NCBI chr13:40,789,611...40,812,460
Ensembl chr13:40,789,412...40,812,460

SLC2A1

solute carrier family 2 member 1

OMIM:601042 ORPHA:168577 ORPHA:53583

NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893

SLC30A6

solute carrier family 30 member 6

ClinVar Annotator: match by term: Spastic paraplegia

PMID:32581362

NCBI chr 2:32,165,864...32,224,379
Ensembl chr 2:32,165,841...32,224,379

solute carrier family 33 member 1

ClinVar Annotator: match by term: Spastic paraplegia

PMID:22243965 PMID:24583203 PMID:25741868 PMID:26467025 PMID:27306358 More...

OMIM:612539

NCBI chr 3:155,821,024...155,854,427
Ensembl chr 3:155,821,024...155,854,456

SLC6A8

solute carrier family 6 member 8

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:153,687,926...153,696,593
Ensembl chr X:153,687,926...153,696,588

SMC1A

structural maintenance of chromosomes 1A

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr X:53,374,149...53,422,728
Ensembl chr X:53,374,149...53,422,728

SMIM9

small integral membrane protein 9

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:154,823,348...154,834,662
Ensembl chr X:154,823,348...154,834,662

SNRNP35

small nuclear ribonucleoprotein U11/U12 subunit 35

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr12:123,458,139...123,473,154
Ensembl chr12:123,458,088...123,473,154

spartin

NCBI chr13:36,301,638...36,370,180
Ensembl chr13:36,301,638...36,370,180

spastin

ClinVar Annotator: match by term: Spastic paraplegia

PMID:16055926 PMID:16199547 PMID:16240363 PMID:17100993 PMID:20718791 More...

OMIM:182601

NCBI chr 2:32,063,556...32,157,637
Ensembl chr 2:32,063,556...32,157,637

SPG11 vesicle trafficking associated, spatacsin

ClinVar Annotator: match by term: Spastic paraplegia

PMID:19105190 PMID:20110243 PMID:20301389 PMID:21381113 PMID:22154821 More...

OMIM:604360

NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688

SPG21

SPG21 abhydrolase domain containing, maspardin

OMIM:248900

NCBI chr15:64,963,022...64,989,914
Ensembl chr15:64,963,022...64,990,310

SPG7 matrix AAA peptidase subunit, paraplegin

ClinVar Annotator: match by term: Spastic paraplegia

PMID:11222789 PMID:18799786 PMID:21623769 PMID:22554690 PMID:22571692 More...

OMIM:607259

NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766

SPPL2A

signal peptide peptidase like 2A

ClinVar Annotator: match by term: Spastic paraplegia

PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 More...

NCBI chr15:50,702,266...50,765,706
Ensembl chr15:50,702,266...50,765,948

spectrin alpha, non-erythrocytic 1

OMIM:620538

NCBI chr 9:128,552,587...128,633,662
Ensembl chr 9:128,552,558...128,633,662

SRPK3

SRSF protein kinase 3

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:153,781,041...153,785,730
Ensembl chr X:153,776,412...153,785,732

SSR4

signal sequence receptor subunit 4

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:153,794,159...153,798,512
Ensembl chr X:153,793,516...153,798,499

STAR

steroidogenic acute regulatory protein

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr 8:38,142,700...38,150,952
Ensembl chr 8:38,142,700...38,150,992

syntaxin binding protein 1

OMIM:612164

NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027

TACC1

transforming acidic coiled-coil containing protein 1

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr 8:38,728,582...38,853,028
Ensembl chr 8:38,728,186...38,853,028

TAFAZZIN

tafazzin, phospholipid-lysophospholipid transacylase

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:154,411,539...154,421,726
Ensembl chr X:154,411,524...154,421,726

TAPBPL

TAP binding protein like

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9536098 PMID:11774073 PMID:17576681 PMID:22958904 PMID:25741868 More...

NCBI chr12:6,451,649...6,472,006
Ensembl chr12:6,451,690...6,466,517

TCTN2

tectonic family member 2

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399

TECPR2

tectonin beta-propeller repeat containing 2

OMIM:615031

NCBI chr14:102,362,941...102,502,477
Ensembl chr14:102,362,941...102,502,477

TEX28

testis expressed 28

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:154,271,265...154,295,211
Ensembl chr X:154,271,265...154,295,853

TFG

trafficking from ER to golgi regulator

OMIM:615658 ORPHA:431329

NCBI chr 3:100,709,290...100,748,967
Ensembl chr 3:100,709,295...100,748,964

TKTL1

transketolase like 1

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:154,295,795...154,330,350
Ensembl chr X:154,295,795...154,330,350

TM2D2

TM2 domain containing 2

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr 8:38,988,808...38,996,990
Ensembl chr 8:38,988,808...38,996,824

TMED2

transmembrane p24 trafficking protein 2

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr12:123,584,552...123,598,582
Ensembl chr12:123,584,533...123,598,582

TMEM187

transmembrane protein 187

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:153,972,754...153,983,194
Ensembl chr X:153,972,754...153,983,194

TMLHE

trimethyllysine hydroxylase, epsilon

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:155,489,011...155,612,952
Ensembl chr X:155,489,011...155,719,098

TMOD2

tropomodulin 2

ClinVar Annotator: match by term: Spastic paraplegia

PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 More...

NCBI chr15:51,751,597...51,816,363
Ensembl chr15:51,751,597...51,816,363

TMOD3

tropomodulin 3

ClinVar Annotator: match by term: Spastic paraplegia

PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 More...

NCBI chr15:51,829,653...51,915,725
Ensembl chr15:51,829,628...51,947,295

TNFAIP8L3

TNF alpha induced protein 8 like 3

ClinVar Annotator: match by term: Spastic paraplegia

PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 More...

NCBI chr15:51,056,601...51,105,276
Ensembl chr15:51,056,598...51,105,276

TNFRSF19

TNF receptor superfamily member 19

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr13:23,570,412...23,676,093
Ensembl chr13:23,570,370...23,676,104

TOE1

target of EGR1, exonuclease

OMIM:614969

NCBI chr 1:45,340,170...45,343,973
Ensembl chr 1:45,340,052...45,343,973

TREX2

three prime repair exonuclease 2

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:153,444,473...153,446,056
Ensembl chr X:153,444,473...153,470,587

TTC27

tetratricopeptide repeat domain 27

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr 2:32,628,050...32,821,051
Ensembl chr 2:32,628,032...32,821,051

ubiquitin associated protein 1

OMIM:618418

NCBI chr 9:34,179,005...34,252,523
Ensembl chr 9:34,179,005...34,252,523

UBL4A

ubiquitin like 4A

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:154,483,717...154,486,615
Ensembl chr X:154,483,717...154,486,615

UCHL1

ubiquitin C-terminal hydrolase L1

OMIM:615491

NCBI chr 4:41,256,928...41,268,455
Ensembl chr 4:41,256,413...41,268,455

USP8

ubiquitin specific peptidase 8

ORPHA:401795

NCBI chr15:50,424,405...50,514,421
Ensembl chr15:50,424,380...50,514,421

vesicle associated membrane protein 1

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9536098 PMID:11774073 PMID:17576681 PMID:22958904 PMID:25741868 More...

OMIM:108600 ORPHA:251282

NCBI chr12:6,462,237...6,470,677
Ensembl chr12:6,462,237...6,470,677

VBP1

VHL binding protein 1

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:155,197,007...155,239,841
Ensembl chr X:155,197,007...155,239,841

valosin containing protein

ClinVar Annotator: match by term: Spastic paraplegia

HPO
ClinVar

PMID:15034582 PMID:18845250 PMID:20604808 PMID:22270372 PMID:22909335 More...

ORPHA:329475

NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668

VPS37A

VPS37A subunit of ESCRT-I

OMIM:614898

NCBI chr 8:17,246,958...17,333,455
Ensembl chr 8:17,246,931...17,302,427

WASH complex subunit 5

ClinVar Annotator: match by term: Spastic paraplegia

OMIM:603563

NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819

WASHC5-AS1

WASHC5 antisense RNA 1

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr 8:125,040,684...125,044,989
Ensembl chr 8:125,040,684...125,044,989

WD repeat domain 45B

NCBI chr17:82,614,562...82,648,444
Ensembl chr17:82,614,562...82,648,553

WD repeat domain 48

NCBI chr 3:39,052,016...39,096,664
Ensembl chr 3:39,052,013...39,096,671

WDR59

WD repeat domain 59

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr16:74,871,362...74,985,123
Ensembl chr16:74,871,362...75,000,173

WDR72

WD repeat domain 72

ClinVar Annotator: match by term: Spastic paraplegia

PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 More...

NCBI chr15:53,513,741...53,762,878
Ensembl chr15:53,513,741...53,762,878

YIPF4

Yip1 domain family member 4

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr 2:32,277,904...32,316,594
Ensembl chr 2:32,277,904...32,316,594

ZFP1

ZFP1 zinc finger protein

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr16:75,119,002...75,172,234
Ensembl chr16:75,148,494...75,172,236

ZFP92

ZFP92 zinc finger protein

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:153,411,472...153,426,481
Ensembl chr X:153,411,472...153,426,481

zinc finger FYVE-type containing 26

ClinVar Annotator: match by term: Spastic paraplegia
ClinVar Annotator: match by term: Spastic paraplegia, lower limb

PMID:6944241 PMID:9536098 PMID:11342696 PMID:16199547 PMID:17576681 More...

OMIM:270700 ORPHA:100996

NCBI chr14:67,728,892...67,816,590
Ensembl chr14:67,727,374...67,816,590

zinc finger FYVE-type containing 27

ClinVar Annotator: match by term: Spastic paraplegia

PMID:16199547 PMID:16826525 PMID:17576681 PMID:18606302 PMID:24668814 More...

OMIM:610244

NCBI chr10:97,737,128...97,760,895
Ensembl chr10:97,737,121...97,760,907

ZNF185

zinc finger protein 185 with LIM domain

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:152,898,067...152,973,481
Ensembl chr X:152,898,067...152,973,481

ZNF275

zinc finger protein 275

ClinVar Annotator: match by term: Spastic paraplegia

PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...

NCBI chr X:153,334,153...153,352,926
Ensembl chr X:153,334,147...153,360,110

ZNRF1

zinc and ring finger 1

ClinVar Annotator: match by term: Spastic paraplegia

NCBI chr16:74,999,024...75,110,994
Ensembl chr16:74,999,024...75,110,994

Spastic tetraparesis

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

AASS

aminoadipate-semialdehyde synthase

ORPHA:2203

NCBI chr 7:122,073,549...122,144,249
Ensembl chr 7:122,064,583...122,144,308

ATP binding cassette subfamily D member 1

ORPHA:139396

NCBI chr X:153,724,856...153,744,755
Ensembl chr X:153,724,856...153,744,755

adenosine deaminase RNA specific

ORPHA:225154

NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013

AFF3

ALF transcription elongation factor 3

OMIM:619297

NCBI chr 2:99,545,419...100,142,590
Ensembl chr 2:99,545,419...100,192,428

ALG3

ALG3 alpha-1,3- mannosyltransferase

OMIM:601110 ORPHA:79321

NCBI chr 3:184,242,301...184,249,525
Ensembl chr 3:184,242,301...184,249,548

alsin Rho guanine nucleotide exchange factor ALS2

OMIM:205100 OMIM:606353 ORPHA:247604

NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112

adaptor related protein complex 4 subunit mu 1

ClinVar Annotator: match by term: Spastic tetraparesis

NCBI chr 7:100,100,794...100,109,039
Ensembl chr 7:100,100,858...100,110,345

apolipoprotein E

NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393

aristaless related homeobox

OMIM:308350

NCBI chr X:25,003,694...25,015,965
Ensembl chr X:25,003,694...25,016,420

ATPase cation transporting 13A2

ClinVar Annotator: match by term: Spastic tetraparesis

NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928

ATP5F1A

ATP synthase F1 subunit alpha

OMIM:620358

NCBI chr18:46,080,248...46,104,227
Ensembl chr18:46,080,248...46,104,334

ATP6V1A

ATPase H+ transporting V1 subunit A

OMIM:618012

NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056

AUH

AU RNA binding methylglutaconyl-CoA hydratase

ORPHA:67046

NCBI chr 9:91,213,823...91,361,918
Ensembl chr 9:91,213,815...91,361,918

COA8

cytochrome c oxidase assembly factor 8

OMIM:619061 ORPHA:436271

NCBI chr14:103,562,960...103,590,899
Ensembl chr14:103,562,960...103,607,523

dymeclin

NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347

EARS2

glutamyl-tRNA synthetase 2, mitochondrial

OMIM:614924

NCBI chr16:23,520,754...23,557,375
Ensembl chr16:23,520,754...23,557,731

EIF2S3

eukaryotic translation initiation factor 2 subunit gamma

OMIM:300148

NCBI chr X:24,054,956...24,078,810
Ensembl chr X:24,054,946...24,078,810

EIF4A2

eukaryotic translation initiation factor 4A2

OMIM:620455

NCBI chr 3:186,783,577...186,789,897
Ensembl chr 3:186,783,205...186,789,897

ER lipid raft associated 2

ORPHA:247604

NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422

ESAM

endothelial cell adhesion molecule

OMIM:620371

NCBI chr11:124,753,126...124,762,290
Ensembl chr11:124,752,583...124,762,290

exosome component 8

NCBI chr13:37,000,786...37,009,614
Ensembl chr13:36,998,816...37,025,881

fatty acid 2-hydroxylase

OMIM:612319 ORPHA:171629

NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831

fatty acyl-CoA reductase 1

OMIM:616154 ORPHA:438178

NCBI chr11:13,668,668...13,732,346
Ensembl chr11:13,668,659...13,732,346

fibulin 1

NCBI chr22:45,502,883...45,601,135
Ensembl chr22:45,502,238...45,601,135

GM2A

ganglioside GM2 activator

OMIM:272750

NCBI chr 5:151,253,185...151,270,440
Ensembl chr 5:151,212,150...151,270,440

GSS

glutathione synthetase

OMIM:266130

NCBI chr20:34,928,432...34,956,027
Ensembl chr20:34,928,432...34,956,027

GUF1

GTP binding elongation factor GUF1

OMIM:617065

NCBI chr 4:44,678,420...44,700,928
Ensembl chr 4:44,678,420...44,700,928

hydroxysteroid 17-beta dehydrogenase 10

ORPHA:391428

NCBI chr X:53,431,258...53,434,376
Ensembl chr X:53,431,258...53,434,370

interferon induced with helicase C domain 1

OMIM:615846

NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684

KCNJ6

potassium inwardly rectifying channel subfamily J member 6

OMIM:614098 ORPHA:435628

NCBI chr21:37,607,373...37,916,457
Ensembl chr21:37,607,373...38,121,345

KCNQ2

potassium voltage-gated channel subfamily Q member 2

OMIM:613720

NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677

L2HGDH

L-2-hydroxyglutarate dehydrogenase

OMIM:236792 ORPHA:79314

NCBI chr14:50,242,434...50,312,229
Ensembl chr14:50,237,563...50,312,229

lipoyltransferase 1

NCBI chr 2:99,154,967...99,163,137
Ensembl chr 2:99,154,955...99,163,157

LIPT2

lipoyl(octanoyl) transferase 2

OMIM:617668

NCBI chr11:74,490,519...74,493,724
Ensembl chr11:74,490,519...74,493,724

lamin B1

NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020

LMX1B

LIM homeobox transcription factor 1 beta

ORPHA:495818

NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032

LYRM7

LYR motif containing 7

OMIM:615838

NCBI chr 5:131,170,944...131,205,428
Ensembl chr 5:131,170,944...131,205,428

MFSD2A

MFSD2 lysolipid transporter A, lysophospholipid

OMIM:616486

NCBI chr 1:39,955,145...39,969,956
Ensembl chr 1:39,955,112...39,969,968

MOCS1

molybdenum cofactor synthesis 1

OMIM:252150

NCBI chr 6:39,904,170...39,934,462
Ensembl chr 6:39,899,578...39,934,551

MRAP

melanocortin 2 receptor accessory protein

OMIM:607398

NCBI chr21:32,291,813...32,314,784
Ensembl chr21:32,291,813...32,314,784

MRM2

mitochondrial rRNA methyltransferase 2

OMIM:618567

NCBI chr 7:2,234,195...2,242,205
Ensembl chr 7:2,234,195...2,242,205

mitochondrially encoded ATP synthase membrane subunit 6

ORPHA:225154

NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207

NFU1

NFU1 iron-sulfur cluster scaffold

OMIM:605711

NCBI chr 2:69,395,750...69,439,567
Ensembl chr 2:69,396,113...69,437,628

nucleoporin 54

NCBI chr 4:76,114,664...76,148,397
Ensembl chr 4:76,107,562...76,148,485

nucleoporin 62

NCBI chr19:49,906,825...49,929,504
Ensembl chr19:49,906,825...49,929,764

PAFAH1B1

platelet activating factor acetylhydrolase 1b regulatory subunit 1

OMIM:607432

NCBI chr17:2,593,183...2,685,615
Ensembl chr17:2,593,183...2,685,615

PHACTR1

phosphatase and actin regulator 1

OMIM:618298

NCBI chr 6:12,716,767...13,287,837
Ensembl chr 6:12,716,312...13,290,446

phospholipase A2 group VI

ORPHA:35069

NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778

proteolipid protein 1

ORPHA:280219 ORPHA:280224

NCBI chr X:103,776,506...103,792,619
Ensembl chr X:103,773,718...103,792,619

PR/SET domain 8

NCBI chr 4:80,185,270...80,204,329
Ensembl chr 4:80,183,879...80,204,329

PRPS1

phosphoribosyl pyrophosphate synthetase 1

ORPHA:423479

NCBI chr X:107,628,510...107,651,026
Ensembl chr X:107,628,428...107,651,993

PRUNE1

prune exopolyphosphatase 1

OMIM:617481 ORPHA:544469

NCBI chr 1:151,008,449...151,035,713
Ensembl chr 1:151,008,420...151,035,713

prosaposin

NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251

PSAT1

phosphoserine aminotransferase 1

ORPHA:284417

NCBI chr 9:78,297,125...78,330,093
Ensembl chr 9:78,297,125...78,330,093

presenilin 1

NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691

receptor accessory protein 1

ORPHA:101011

NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083

RERE

arginine-glutamic acid dipeptide repeats

OMIM:616975

NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921

RNA, U7 small nuclear 1

OMIM:619487

NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878

SDHA

succinate dehydrogenase complex flavoprotein subunit A

NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082

succinate dehydrogenase complex assembly factor 1

NCBI chr19:35,995,188...35,996,312
Ensembl chr19:35,995,188...35,996,312

SDHB

succinate dehydrogenase complex iron sulfur subunit B

NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151

SDHD

succinate dehydrogenase complex subunit D

NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016

SLC18A2

solute carrier family 18 member A2

ORPHA:352649

NCBI chr10:117,241,114...117,279,430
Ensembl chr10:117,241,093...117,279,430

SLC35A2

solute carrier family 35 member A2

ORPHA:356961

NCBI chr X:48,903,183...48,911,958
Ensembl chr X:48,903,180...48,911,958

SMC1A

structural maintenance of chromosomes 1A

OMIM:301044

NCBI chr X:53,374,149...53,422,728
Ensembl chr X:53,374,149...53,422,728

SNAPC4

small nuclear RNA activating complex polypeptide 4

OMIM:620515

NCBI chr 9:136,375,571...136,400,170
Ensembl chr 9:136,375,567...136,400,176

SOD1

superoxide dismutase 1

OMIM:618598

NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931

SOX4

SRY-box transcription factor 4

OMIM:618506

NCBI chr 6:21,593,751...21,598,619
Ensembl chr 6:21,593,751...21,598,619

SPG7 matrix AAA peptidase subunit, paraplegin

ClinVar Annotator: match by term: Spastic tetraparesis

NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766

STAM binding protein

NCBI chr 2:73,828,961...73,873,656
Ensembl chr 2:73,828,916...73,873,659

syntaxin binding protein 1

ORPHA:495818

NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027

TACO1

translational activator of cytochrome c oxidase I

OMIM:619052

NCBI chr17:63,600,895...63,608,365
Ensembl chr17:63,600,882...63,608,365

tubulin folding cofactor E

ORPHA:496756

NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443

TMEM222

transmembrane protein 222

OMIM:619470

NCBI chr 1:27,322,163...27,336,400
Ensembl chr 1:27,322,145...27,336,400

tenascin R

NCBI chr 1:175,315,194...175,743,595
Ensembl chr 1:175,315,194...175,743,595

TRAPPC4

trafficking protein particle complex subunit 4

OMIM:618741

NCBI chr11:119,018,766...119,024,134
Ensembl chr11:119,018,763...119,025,454

WD repeat domain 62

NCBI chr19:36,054,897...36,111,145
Ensembl chr19:36,054,649...36,105,108

zinc finger FYVE-type containing 27

ClinVar Annotator: match by term: Spastic tetraparesis

PMID:16826525 PMID:18606302 PMID:24668814 PMID:25741868 PMID:28492532

NCBI chr10:97,737,128...97,760,895
Ensembl chr10:97,737,121...97,760,907

Spastic tetraplegia

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

adenosine deaminase RNA specific

NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013

adducin 3

NCBI chr10:109,996,373...110,135,565
Ensembl chr10:109,996,368...110,135,565

ADGRG1

adhesion G protein-coupled receptor G1

NCBI chr16:57,619,738...57,665,567
Ensembl chr16:57,610,652...57,665,580

AFG2B

AFG2 AAA ATPase homolog B

OMIM:619616

NCBI chr15:45,402,336...45,421,415
Ensembl chr15:45,402,336...45,421,415

alsin Rho guanine nucleotide exchange factor ALS2

OMIM:607225 ORPHA:293168

NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112

ANKLE2

ankyrin repeat and LEM domain containing 2

OMIM:616681

NCBI chr12:132,725,503...132,761,832
Ensembl chr12:132,725,503...132,761,832

adaptor related protein complex 4 subunit epsilon 1

OMIM:613744

NCBI chr15:50,907,492...51,005,895
Ensembl chr15:50,908,672...51,005,895

adaptor related protein complex 4 subunit mu 1

OMIM:612936

NCBI chr 7:100,100,794...100,109,039
Ensembl chr 7:100,100,858...100,110,345

APC2

APC regulator of WNT signaling pathway 2

OMIM:618677

NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244

arylsulfatase A

NCBI chr22:50,622,754...50,628,152
Ensembl chr22:50,622,754...50,628,173

aristaless related homeobox

OMIM:300004

NCBI chr X:25,003,694...25,015,965
Ensembl chr X:25,003,694...25,016,420

ASNS

asparagine synthetase (glutamine-hydrolyzing)

OMIM:615574

NCBI chr 7:97,851,677...97,928,441
Ensembl chr 7:97,851,677...97,872,542

ATPase cation transporting 13A2

OMIM:617225

NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928

ATP6V0A1

ATPase H+ transporting V0 subunit a1

OMIM:619971

NCBI chr17:42,458,878...42,522,579
Ensembl chr17:42,458,844...42,522,582

AUH

AU RNA binding methylglutaconyl-CoA hydratase

OMIM:250950

NCBI chr 9:91,213,823...91,361,918
Ensembl chr 9:91,213,815...91,361,918

BCL11B

BCL11 transcription factor B

OMIM:617237

NCBI chr14:99,169,287...99,272,197
Ensembl chr14:99,169,287...99,272,197

CACNA1D

calcium voltage-gated channel subunit alpha1 D

OMIM:615474

NCBI chr 3:53,494,611...53,813,733
Ensembl chr 3:53,328,963...53,813,733

CACNA1E

calcium voltage-gated channel subunit alpha1 E

OMIM:618285

NCBI chr 1:181,317,699...181,808,084
Ensembl chr 1:181,317,690...181,813,262

CDC40

cell division cycle 40

OMIM:619302

NCBI chr 6:110,180,427...110,232,232
Ensembl chr 6:110,180,141...110,254,275

CLIC2

chloride intracellular channel 2

OMIM:300886 ORPHA:324410

NCBI chr X:155,276,211...155,334,614
Ensembl chr X:155,276,211...155,334,657

CLN8

CLN8 transmembrane ER and ERGIC protein

ORPHA:1947

NCBI chr 8:1,753,059...1,786,570
Ensembl chr 8:1,755,778...1,801,711

CNP

2',3'-cyclic nucleotide 3' phosphodiesterase

OMIM:619071

NCBI chr17:41,966,795...41,977,740
Ensembl chr17:41,966,763...41,977,740

CNPY3

canopy FGF signaling regulator 3

OMIM:617929

NCBI chr 6:42,928,002...42,939,294
Ensembl chr 6:42,929,480...42,939,294

Coenzyme A synthase

NCBI chr17:42,562,148...42,566,277
Ensembl chr17:42,561,467...42,566,277

COG2

component of oligomeric golgi complex 2

OMIM:617395 ORPHA:435934

NCBI chr 1:230,642,481...230,693,982
Ensembl chr 1:230,642,481...230,693,982

COL4A2

collagen type IV alpha 2 chain

OMIM:614483

NCBI chr13:110,307,284...110,513,209
Ensembl chr13:110,305,812...110,513,209

COLGALT1

collagen beta(1-O)galactosyltransferase 1

OMIM:618360

NCBI chr19:17,555,649...17,583,157
Ensembl chr19:17,555,649...17,583,162

CSF1R

colony stimulating factor 1 receptor

OMIM:618476

NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372

catenin alpha 2

NCBI chr 2:79,185,377...80,648,780
Ensembl chr 2:79,185,231...80,648,861

cytochrome b5 type A

NCBI chr18:74,250,846...74,291,963
Ensembl chr18:74,250,846...74,291,973

CYB5R3

cytochrome b5 reductase 3

ORPHA:621

NCBI chr22:42,617,840...42,649,392
Ensembl chr22:42,615,730...42,720,870

DEGS1

delta 4-desaturase, sphingolipid 1

OMIM:618404

NCBI chr 1:224,183,240...224,193,441
Ensembl chr 1:224,175,756...224,193,441

DENND5A

DENN domain containing 5A

OMIM:617281

NCBI chr11:9,138,825...9,265,350
Ensembl chr11:9,138,825...9,265,959

DPH5

diphthamide biosynthesis 5

OMIM:620070

NCBI chr 1:100,989,623...101,025,784
Ensembl chr 1:100,989,623...101,026,088

DTYMK

deoxythymidylate kinase

OMIM:619847

NCBI chr 2:241,675,747...241,686,815
Ensembl chr 2:241,675,747...241,686,944

DYNC1H1

dynein cytoplasmic 1 heavy chain 1

OMIM:614563

NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443

ELOVL4

ELOVL fatty acid elongase 4

OMIM:614457

NCBI chr 6:79,914,814...79,947,553
Ensembl chr 6:79,914,814...79,947,553

EXOC2

exocyst complex component 2

OMIM:619306

NCBI chr 6:485,154...693,139
Ensembl chr 6:485,154...693,139

FUCA1

alpha-L-fucosidase 1

OMIM:230000 ORPHA:349

NCBI chr 1:23,845,077...23,868,290
Ensembl chr 1:23,845,077...23,868,290

galactosidase beta 1

NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202

glycerate kinase

NCBI chr 3:52,287,828...52,295,257
Ensembl chr 3:52,287,089...52,295,257

GOT2

glutamic-oxaloacetic transaminase 2

OMIM:618721

NCBI chr16:58,707,131...58,734,316
Ensembl chr16:58,707,131...58,734,342

GRIA4

glutamate ionotropic receptor AMPA type subunit 4

OMIM:617864

NCBI chr11:105,609,616...105,982,090
Ensembl chr11:105,609,535...105,982,090

GRIN1

glutamate ionotropic receptor NMDA type subunit 1

ORPHA:208447

NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756

GS homeobox 2

NCBI chr 4:54,100,163...54,102,498
Ensembl chr 4:54,099,523...54,102,498

H4 clustered histone 5

NCBI chr 6:26,204,610...26,205,021
Ensembl chr 6:26,204,610...26,205,021

hydroxysteroid 17-beta dehydrogenase 10

OMIM:300438

NCBI chr X:53,431,258...53,434,376
Ensembl chr X:53,431,258...53,434,370

IBA57

iron-sulfur cluster assembly factor IBA57

OMIM:615330

NCBI chr 1:228,165,804...228,182,257
Ensembl chr 1:228,165,804...228,182,257

IDH3G

isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma

ClinVar Annotator: match by term: Spastic tetraplegia

NCBI chr X:153,785,768...153,794,375
Ensembl chr X:153,785,766...153,794,512

interferon induced with helicase C domain 1

NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684

ISCA2

iron-sulfur cluster assembly 2

ClinVar Annotator: match by term: Spastic quadriplegia

PMID:25434003 PMID:25539947 PMID:25558065 PMID:25741868 PMID:28492532 More...

NCBI chr14:74,493,765...74,497,106
Ensembl chr14:74,493,756...74,497,106

KANK1

KN motif and ankyrin repeat domains 1

OMIM:612900

NCBI chr 9:470,295...746,103
Ensembl chr 9:470,291...746,105

KARS1

lysyl-tRNA synthetase 1

OMIM:619147 ORPHA:3240

NCBI chr16:75,627,724...75,647,665
Ensembl chr16:75,627,474...75,648,643

KCNC2

potassium voltage-gated channel subfamily C member 2

OMIM:619913

NCBI chr12:75,040,078...75,209,839
Ensembl chr12:75,040,077...75,209,839

KIF2A

kinesin family member 2A

OMIM:615411

NCBI chr 5:62,306,206...62,391,025
Ensembl chr 5:62,306,162...62,391,025

KIF5C

kinesin family member 5C

OMIM:615282

NCBI chr 2:148,875,227...149,026,759
Ensembl chr 2:148,875,227...149,026,759

LIAS

lipoic acid synthetase

OMIM:614462

NCBI chr 4:39,459,056...39,479,506
Ensembl chr 4:39,459,004...39,485,109

LSM11

LSM11, U7 small nuclear RNA associated

NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709

MCOLN1

mucolipin TRP cation channel 1

OMIM:252650

NCBI chr19:7,522,624...7,534,009
Ensembl chr19:7,522,624...7,534,009

methyl-CpG binding protein 2

OMIM:300055

NCBI chr X:154,021,573...154,097,717
Ensembl chr X:154,021,573...154,137,103

MINPP1

multiple inositol-polyphosphate phosphatase 1

OMIM:619527

NCBI chr10:87,504,893...87,553,461
Ensembl chr10:87,504,875...87,553,461

MOCS1

molybdenum cofactor synthesis 1

OMIM:252150

NCBI chr 6:39,904,170...39,934,462
Ensembl chr 6:39,899,578...39,934,551

MOCS2

molybdenum cofactor synthesis 2

OMIM:252160

NCBI chr 5:53,095,679...53,109,757
Ensembl chr 5:53,095,679...53,110,063

MRPS22

mitochondrial ribosomal protein S22

OMIM:611719

NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,360,497

MTFMT

mitochondrial methionyl-tRNA formyltransferase

OMIM:618248

NCBI chr15:65,001,512...65,029,639
Ensembl chr15:65,001,512...65,029,639

NALCN

sodium leak channel, non-selective

OMIM:615419 ORPHA:371364

NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508

NAD(P)HX dehydratase

NCBI chr13:110,615,460...110,639,996
Ensembl chr13:110,615,545...110,639,996

NDE1

nudE neurodevelopment protein 1

OMIM:605013

NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691

NDUFAF4

NADH:ubiquinone oxidoreductase complex assembly factor 4

OMIM:618237

NCBI chr 6:96,889,315...96,897,891
Ensembl chr 6:96,889,315...96,897,891

NDUFAF5

NADH:ubiquinone oxidoreductase complex assembly factor 5

OMIM:618238

NCBI chr20:13,785,028...13,821,580
Ensembl chr20:13,785,007...13,821,580

OSTM1

osteoclastogenesis associated transmembrane protein 1

OMIM:259720

NCBI chr 6:108,041,409...108,074,741
Ensembl chr 6:108,029,245...108,165,854

OTUD6B

OTU deubiquitinase 6B

OMIM:617452 ORPHA:505237

NCBI chr 8:91,070,344...91,087,093
Ensembl chr 8:91,070,196...91,087,095

protocadherin 12

NCBI chr 5:141,943,581...141,958,202
Ensembl chr 5:141,943,581...141,969,741

PDHX

pyruvate dehydrogenase complex component X

OMIM:245349

NCBI chr11:34,915,920...34,996,128
Ensembl chr11:34,915,829...35,020,591

PET100

PET100 cytochrome c oxidase chaperone

OMIM:619055

NCBI chr19:7,629,793...7,631,956
Ensembl chr19:7,629,788...7,631,956

PHGDH

phosphoglycerate dehydrogenase

OMIM:601815 ORPHA:79351

NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,218

phosphatidylinositol 4-kinase alpha

NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417

phospholipase A2 group VI

OMIM:256600

NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778

PPFIBP1

PPFIA binding protein 1

OMIM:620024

NCBI chr12:27,524,206...27,695,564
Ensembl chr12:27,523,431...27,695,564

PPIL1

peptidylprolyl isomerase like 1

OMIM:619301

NCBI chr 6:36,854,829...36,874,803
Ensembl chr 6:36,854,827...36,874,803

PR/SET domain 13

NCBI chr 6:99,606,833...99,615,562
Ensembl chr 6:99,606,774...99,615,578

PR/SET domain 8

NCBI chr 4:80,185,270...80,204,329
Ensembl chr 4:80,183,879...80,204,329

PSMC1

proteasome 26S subunit, ATPase 1

OMIM:620071

NCBI chr14:90,256,553...90,275,429
Ensembl chr14:90,256,527...90,275,429

RAB18

RAB18, member RAS oncogene family

OMIM:614222

NCBI chr10:27,504,304...27,542,239
Ensembl chr10:27,504,174...27,543,207

RANBP2

RAN binding protein 2

OMIM:608033 ORPHA:88619

NCBI chr 2:108,719,482...109,842,301
Ensembl chr 2:108,719,482...108,785,810

RNASEH2A

ribonuclease H2 subunit A

NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640

ribonuclease H2 subunit B

NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120

RNASEH2C

ribonuclease H2 subunit C

NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818

RNA, U7 small nuclear 1

OMIM:619487 ORPHA:51

NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878

SAMHD1

SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893

SCN2A

sodium voltage-gated channel alpha subunit 2

OMIM:613721

NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310

SCN3A

sodium voltage-gated channel alpha subunit 3

OMIM:617938

NCBI chr 2:165,087,526...165,204,050
Ensembl chr 2:165,087,526...165,204,050

succinate dehydrogenase complex assembly factor 1

OMIM:619166

NCBI chr19:35,995,188...35,996,312
Ensembl chr19:35,995,188...35,996,312

SEC31A

SEC31 homolog A, COPII coat complex component

OMIM:618651

NCBI chr 4:82,818,509...82,900,569
Ensembl chr 4:82,818,509...82,901,166

SEPSECS

Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase

OMIM:613811

NCBI chr 4:25,120,014...25,160,582
Ensembl chr 4:25,120,014...25,160,550

SHMT2

serine hydroxymethyltransferase 2

OMIM:619121

NCBI chr12:57,229,711...57,234,935
Ensembl chr12:57,229,573...57,234,935

SHQ1

SHQ1, H/ACA ribonucleoprotein assembly factor

OMIM:619922

NCBI chr 3:72,725,272...72,848,445
Ensembl chr 3:72,749,277...72,861,914

SIX homeobox 6

NCBI chr14:60,509,146...60,512,850
Ensembl chr14:60,509,146...60,512,850

SLC16A2

solute carrier family 16 member 2

OMIM:300523 ORPHA:59

NCBI chr X:74,421,493...74,533,916
Ensembl chr X:74,421,493...74,533,917

SLC19A3

solute carrier family 19 member 3

ORPHA:263410

NCBI chr 2:227,683,763...227,718,028
Ensembl chr 2:227,683,763...227,718,028

SLC1A4

solute carrier family 1 member 4

OMIM:616657

NCBI chr 2:64,988,479...65,023,865
Ensembl chr 2:64,988,477...65,023,865

SOX10

SRY-box transcription factor 10

OMIM:609136

NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422

SOX2

SRY-box transcription factor 2

OMIM:206900

NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436

spectrin alpha, non-erythrocytic 1

OMIM:613477

NCBI chr 9:128,552,587...128,633,662
Ensembl chr 9:128,552,558...128,633,662

spectrin beta, non-erythrocytic 1

NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446

SRPX2

sushi repeat containing protein X-linked 2

NCBI chr X:100,644,199...100,675,788
Ensembl chr X:100,644,195...100,675,788

syntaxin binding protein 1

OMIM:612164 ORPHA:599373

NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027

synaptojanin 1

NCBI chr21:32,628,759...32,728,394
Ensembl chr21:32,628,759...32,728,040

TANGO2

transport and golgi organization 2 homolog

OMIM:616878

NCBI chr22:20,017,023...20,067,164
Ensembl chr22:20,017,014...20,067,164

TBC1D20

TBC1 domain family member 20

OMIM:615663

NCBI chr20:435,480...462,533
Ensembl chr20:423,596...462,566

tubulin folding cofactor E

OMIM:617207

NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443

TMX2

thioredoxin related transmembrane protein 2

OMIM:618730

NCBI chr11:57,712,593...57,740,973
Ensembl chr11:57,712,580...57,742,987

TREX1

three prime repair exonuclease 1

NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645

tubulin alpha 1a

NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,324

TUBB3

tubulin beta 3 class III

ORPHA:300570

NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761

tubulin gamma 1

NCBI chr17:42,609,683...42,615,238
Ensembl chr17:42,609,641...42,615,238

UNC80

unc-80 homolog, NALCN channel complex subunit

ORPHA:371364

NCBI chr 2:209,771,832...209,999,296
Ensembl chr 2:209,771,569...209,999,300

VPS53

VPS53 subunit of GARP complex

OMIM:615851

NCBI chr17:508,668...714,839
Ensembl chr17:508,503...721,717

WARS2

tryptophanyl tRNA synthetase 2, mitochondrial

OMIM:617710 ORPHA:572798

NCBI chr 1:119,031,216...119,140,672
Ensembl chr 1:119,031,216...119,140,654

WD repeat domain 45B

NCBI chr17:82,614,562...82,648,444
Ensembl chr17:82,614,562...82,648,553

WD repeat domain 73

NCBI chr15:84,639,285...84,654,283
Ensembl chr15:84,639,285...84,654,343

YIF1B

Yip1 interacting factor homolog B, membrane trafficking protein

OMIM:619125

NCBI chr19:38,303,558...38,321,887
Ensembl chr19:38,303,558...38,317,273

Spasticity of facial muscles

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

alsin Rho guanine nucleotide exchange factor ALS2

OMIM:205100 OMIM:606353

NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112

SCN4A

sodium voltage-gated channel alpha subunit 4

ORPHA:99734

NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918

Spasticity of pharyngeal muscles

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

alsin Rho guanine nucleotide exchange factor ALS2

OMIM:205100 OMIM:606353

NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112

Upper limb spasticity

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

actin like 6B

NCBI chr 7:100,643,097...100,656,448
Ensembl chr 7:100,643,097...100,656,448

alsin Rho guanine nucleotide exchange factor ALS2

NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112

beta-1,4-N-acetyl-galactosaminyltransferase 1

OMIM:609195

NCBI chr12:57,623,409...57,633,201
Ensembl chr12:57,623,409...57,633,239

CLCN4

chloride voltage-gated channel 4

ORPHA:485350

NCBI chr X:10,156,975...10,237,660
Ensembl chr X:10,156,975...10,237,660

cytochrome P450 family 7 subfamily B member 1

OMIM:270800 ORPHA:100986

NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737

DDHD2

DDHD domain containing 2

OMIM:615033

NCBI chr 8:38,231,585...38,273,647
Ensembl chr 8:38,225,218...38,275,558

ER lipid raft associated 2

OMIM:611225 OMIM:620512

NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422

FUS RNA binding protein

NCBI chr16:31,180,110...31,194,871
Ensembl chr16:31,180,138...31,196,963

glucosylceramidase beta 2

OMIM:614409 ORPHA:320391

NCBI chr 9:35,736,866...35,749,228
Ensembl chr 9:35,736,866...35,749,228

gap junction protein gamma 2

OMIM:613206

NCBI chr 1:228,149,930...228,159,826
Ensembl chr 1:228,149,930...228,159,826

GPRC5B

G protein-coupled receptor class C group 5 member B

OMIM:620447

NCBI chr16:19,856,691...19,885,634
Ensembl chr16:19,856,691...19,886,167

HEPACAM

hepatic and glial cell adhesion molecule

OMIM:613925

NCBI chr11:124,919,205...124,936,047
Ensembl chr11:124,919,205...124,936,412

kinesin family member 5A

ORPHA:100991

NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633

PIGA

phosphatidylinositol glycan anchor biosynthesis class A

OMIM:300868

NCBI chr X:15,319,451...15,335,554
Ensembl chr X:15,319,452...15,335,554

arginyl-tRNA synthetase 2, mitochondrial

NCBI chr 6:87,513,938...87,589,987
Ensembl chr 6:87,513,459...87,590,028

RNF170

ring finger protein 170

OMIM:619686

NCBI chr 8:42,849,637...42,897,299
Ensembl chr 8:42,849,637...42,897,290

SATB homeobox 1

NCBI chr 3:18,345,377...18,445,592
Ensembl chr 3:18,345,377...18,445,621

selenoprotein I

NCBI chr 2:26,346,143...26,395,885
Ensembl chr 2:26,308,547...26,395,885

sigma non-opioid intracellular receptor 1

NCBI chr 9:34,634,722...34,637,787
Ensembl chr 9:34,634,722...34,637,844

spartin

NCBI chr13:36,301,638...36,370,180
Ensembl chr13:36,301,638...36,370,180

SPG11 vesicle trafficking associated, spatacsin

NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688

serine palmitoyltransferase long chain base subunit 1

NCBI chr 9:92,031,147...92,115,413
Ensembl chr 9:92,000,087...92,115,413

tubulin folding cofactor D

OMIM:617193

NCBI chr17:82,752,065...82,945,914
Ensembl chr17:82,752,042...82,945,914

THOC2

THO complex subunit 2

ORPHA:457240

NCBI chr X:123,600,569...123,733,052
Ensembl chr X:123,600,561...123,733,056

TMEM63C

transmembrane protein 63C

OMIM:619966

NCBI chr14:77,181,798...77,259,495
Ensembl chr14:77,116,568...77,259,495

ubiquitin associated protein 1

OMIM:618418

NCBI chr 9:34,179,005...34,252,523
Ensembl chr 9:34,179,005...34,252,523

WASH complex subunit 5

OMIM:603563 ORPHA:100989

NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819

zinc finger FYVE-type containing 26