Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:paraplegia
go back to main search page
Accession:DOID:607 term browser browse the term
Definition:Severe or complete loss of motor function in the lower extremities and lower portions of the trunk. This condition is most often associated with SPINAL CORD DISEASES, although BRAIN DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; and MUSCULAR DISEASES may also cause bilateral leg weakness.
Synonyms:exact_synonym: Ataxic Paraplegia;   Cerebral Paraplegia;   Cerebral Paraplegias;   Flaccid Paraplegia;   Flaccid Paraplegias;   Paralysis, Legs;   Paralysis, Lower Extremities;   Paralysis, Lower Limbs;   Paraplegias;   Spastic Paraplegia;   Spastic Paraplegias;   Spinal Paraplegia;   ataxic paraplegias;   lower paraplegia;   spinal paraplegias
 primary_id: MESH:D010264
 xref: GARD:7327;   ICD10CM:G82.2;   ICD9CM:344.1;   NCI:C50687
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
<
paraplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD16A abhydrolase domain containing 16A, phospholipase IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 PMID:34587489 NCBI chr 6:31,686,955...31,703,324
Ensembl chr 6:31,686,955...31,703,356
JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO mRNA:decreased expression:soleus RGD PMID:18236467 RGD:5509082 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751
JBrowse link
G AP4B1 adaptor related protein complex 4 subunit beta 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:18414213 PMID:21440262 PMID:21620353 PMID:22290197 PMID:24700674 More... NCBI chr 1:113,894,194...113,905,028
Ensembl chr 1:113,894,194...113,905,201
JBrowse link
G AP4B1-AS1 AP4B1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:21440262 PMID:21620353 PMID:22290197 PMID:24700674 PMID:24781758 More... NCBI chr 1:113,812,612...113,901,237
Ensembl chr 1:113,856,635...113,901,237
JBrowse link
G AP4E1 adaptor related protein complex 4 subunit epsilon 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:21620353 PMID:21937992 More... NCBI chr15:50,907,492...51,005,895
Ensembl chr15:50,908,672...51,005,895
JBrowse link
G AP4M1 adaptor related protein complex 4 subunit mu 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:21937992 PMID:24700674 PMID:25326635 PMID:25496299 PMID:25558065 More... NCBI chr 7:100,100,794...100,109,039
Ensembl chr 7:100,101,549...100,110,345
JBrowse link
G AP4S1 adaptor related protein complex 4 subunit sigma 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21620353 More... NCBI chr14:31,025,106...31,096,450
Ensembl chr14:31,025,106...31,130,996
JBrowse link
G AP5Z1 adaptor related protein complex 5 subunit zeta 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar NCBI chr 7:4,775,623...4,794,397
Ensembl chr 7:4,775,615...4,794,397
JBrowse link
G ARSI arylsulfatase family member I IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 PMID:28492532 PMID:28832565 NCBI chr 5:150,296,343...150,302,905
Ensembl chr 5:150,296,343...150,339,307
JBrowse link
G ATG7 autophagy related 7 ISO RGD PMID:23055316 RGD:11557990 NCBI chr 3:11,272,397...11,576,353
Ensembl chr 3:11,272,309...11,557,665
JBrowse link
G ATL1 atlastin GTPase 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:8252041 PMID:11685207 PMID:14607301 PMID:15517445 PMID:16537571 More... NCBI chr14:50,533,082...50,633,068
Ensembl chr14:50,532,509...50,634,017
JBrowse link
G B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:23746551 PMID:24103911 More... NCBI chr12:57,623,409...57,633,201
Ensembl chr12:57,623,409...57,633,239
JBrowse link
G BECN1 beclin 1 ISO protein:increased expression:soleus muscle RGD PMID:23055316 RGD:11557990 NCBI chr17:42,810,132...42,824,282
Ensembl chr17:42,810,134...42,833,350
JBrowse link
G BICD2 BICD cargo adaptor 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 PMID:26998597 PMID:28492532 NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833
JBrowse link
G BIRC6 baculoviral IAP repeat containing 6 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar NCBI chr 2:32,357,023...32,618,878
Ensembl chr 2:32,357,023...32,618,878
JBrowse link
G CCIN calicin IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 9:36,169,388...36,171,334
Ensembl chr 9:36,169,388...36,171,334
JBrowse link
G CLTA clathrin light chain A IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 9:36,190,874...36,212,059
Ensembl chr 9:36,190,856...36,304,781
JBrowse link
G CPT1C carnitine palmitoyltransferase 1C IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 NCBI chr19:49,690,662...49,713,731
Ensembl chr19:49,690,898...49,713,731
JBrowse link
G CREB3 cAMP responsive element binding protein 3 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 9:35,732,666...35,736,999
Ensembl chr 9:35,732,598...35,736,999
JBrowse link
G CYP2U1 cytochrome P450 family 2 subfamily U member 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:23176821 PMID:25558065 PMID:25741868 PMID:26936192 PMID:27292318 More... NCBI chr 4:107,931,549...107,953,461
Ensembl chr 4:107,931,549...107,953,461
JBrowse link
G CYP2U1-AS1 CYP2U1 and SGMS2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 PMID:28492532 PMID:29034544 NCBI chr 4:107,863,479...107,932,119
Ensembl chr 4:107,863,473...107,989,692
JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:1943942 PMID:2411763 PMID:7987300 PMID:9536098 PMID:9802883 More... NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737
JBrowse link
G DPY30 dpy-30 histone methyltransferase complex regulatory subunit IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar NCBI chr 2:32,011,649...32,039,835
Ensembl chr 2:31,867,809...32,039,805
JBrowse link
G EGR2 early growth response 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar NCBI chr10:62,811,996...62,819,167
Ensembl chr10:62,811,996...62,819,167
JBrowse link
G ERLIN2 ER lipid raft associated 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:21330303 PMID:23109145 More... NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422
JBrowse link
G FA2H fatty acid 2-hydroxylase IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:20104589 PMID:20853438 More... NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831
JBrowse link
G FAM221B family with sequence similarity 221 member B IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 9:35,816,391...35,828,732
Ensembl chr 9:35,816,391...35,828,747
JBrowse link
G FOXO4 forkhead box O4 ISO protein:increased expression:skeletal muscle: RGD PMID:18236467 RGD:5509082 NCBI chr  X:71,095,851...71,103,532
Ensembl chr  X:71,095,851...71,103,532
JBrowse link
G GBA2 glucosylceramidase beta 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:23332916 PMID:23332917 More... NCBI chr 9:35,736,866...35,749,228
Ensembl chr 9:35,736,866...35,749,228
JBrowse link
G GJC2 gap junction protein gamma 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:8733901 PMID:15192806 PMID:18094336 PMID:20513814 PMID:20695017 More... NCBI chr 1:228,149,930...228,159,826
Ensembl chr 1:228,149,930...228,159,826
JBrowse link
G GLIPR2 GLI pathogenesis related 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 9:36,136,536...36,163,913
Ensembl chr 9:36,136,536...36,163,913
JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042
JBrowse link
G HINT2 histidine triad nucleotide binding protein 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 9:35,812,960...35,815,479
Ensembl chr 9:35,812,960...35,815,354
JBrowse link
G HPDL 4-hydroxyphenylpyruvate dioxygenase like IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 PMID:32707086 PMID:33188300 PMID:33970200 NCBI chr 1:45,326,895...45,328,710
Ensembl chr 1:45,326,895...45,328,710
JBrowse link
G HRCT1 histidine rich carboxyl terminus 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 9:35,906,202...35,907,136
Ensembl chr 9:35,906,202...35,907,136
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:17420924 PMID:18414213 PMID:19706612 PMID:22552817 PMID:24033266 More... NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737
JBrowse link
G IBA57 iron-sulfur cluster assembly factor IBA57 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 1:228,165,804...228,182,257
Ensembl chr 1:228,165,804...228,182,257
JBrowse link
G KDM5C lysine demethylase 5C IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:15586325 PMID:16199547 PMID:18414213 PMID:18697827 PMID:22326837 More... NCBI chr  X:53,176,277...53,225,207
Ensembl chr  X:53,176,283...53,225,422
JBrowse link
G KIF1A kinesin family member 1A IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:24088041 PMID:25265257 PMID:25326635 More... NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293
JBrowse link
G KIF5A kinesin family member 5A IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9536098 PMID:15452312 PMID:16476820 PMID:16489470 PMID:17576681 More... NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633
JBrowse link
G L1CAM L1 cell adhesion molecule IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar 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
JBrowse link
G LINC00362 long intergenic non-protein coding RNA 362 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar 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
JBrowse link
G MSMP microseminoprotein, prostate associated IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 9:35,752,990...35,754,276
Ensembl chr 9:35,752,990...35,756,613
JBrowse link
G MTM1 myotubularin 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar 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
JBrowse link
G MTRFR mitochondrial translation release factor in rescue IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:20598281 PMID:24033266 PMID:24284555 PMID:24424123 PMID:25741868 More... NCBI chr12:123,232,914...123,257,960
Ensembl chr12:123,233,385...123,258,079
JBrowse link
G NIPA1 NIPA magnesium transporter 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:15643603 PMID:15711826 PMID:16267846 PMID:17092466 PMID:17166836 More... NCBI chr15:22,786,225...22,829,789
Ensembl chr15:22,773,063...22,829,789
JBrowse link
G NLRC4 NLR family CARD domain containing 4 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:32581362 NCBI chr 2:32,224,449...32,265,743
Ensembl chr 2:32,224,453...32,265,732
JBrowse link
G NOS2 nitric oxide synthase 2 ISO protein:increased expression:Lumbar segment of spinal cord, bone marrow-derived macrophage (rat) RGD PMID:21959174 RGD:5509577 NCBI chr17:27,756,766...27,800,529
Ensembl chr17:27,756,766...27,800,529
JBrowse link
G NPR2 natriuretic peptide receptor 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732
JBrowse link
G OR13J1 olfactory receptor family 13 subfamily J member 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 9:35,869,463...35,870,401
Ensembl chr 9:35,869,463...35,870,401
JBrowse link
G OR2S2 olfactory receptor family 2 subfamily S member 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 9:35,957,108...35,958,154
Ensembl chr 9:35,957,108...35,958,154
JBrowse link
G RDH11 retinol dehydrogenase 11 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr14:67,676,800...67,695,764
Ensembl chr14:67,676,800...67,695,793
JBrowse link
G RDH12 retinol dehydrogenase 12 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr14:67,701,886...67,734,451
Ensembl chr14:67,701,886...67,734,451
JBrowse link
G RECK reversion inducing cysteine rich protein with kazal motifs IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 9:36,036,913...36,124,455
Ensembl chr 9:36,036,913...36,124,455
JBrowse link
G REEP1 receptor accessory protein 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:16826527 PMID:18321925 PMID:18644145 PMID:20718791 PMID:22703882 More... NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083
JBrowse link
G RGP1 RGP1 homolog, RAB6A GEF complex partner 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 9:35,749,287...35,790,428
Ensembl chr 9:35,749,287...35,758,585
JBrowse link
G RNF170 ring finger protein 170 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 PMID:31636353 NCBI chr 8:42,849,637...42,897,299
Ensembl chr 8:42,849,637...42,897,290
JBrowse link
G RTN2 reticulon 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:22232211 PMID:25741868 PMID:26467025 PMID:27165006 PMID:28166811 More... NCBI chr19:45,485,294...45,497,047
Ensembl chr19:45,485,294...45,497,055
JBrowse link
G SACS sacsin molecular chaperone IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9673983 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
JBrowse link
G SETX senataxin IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:17159128 PMID:19569000 PMID:20981092 PMID:23941260 PMID:25741868 More... NCBI chr 9:132,261,356...132,356,744
Ensembl chr 9:132,261,356...132,354,986
JBrowse link
G SGCG sarcoglycan gamma IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9673983 PMID:18285821 PMID:18398442 PMID:18465152 PMID:19031088 More... NCBI chr13:23,160,508...23,325,162
Ensembl chr13:23,180,979...23,325,162
JBrowse link
G SLC16A2 solute carrier family 16 member 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:15488219 PMID:15889350 PMID:16199547 PMID:16957765 PMID:17899191 More... NCBI chr  X:74,421,493...74,533,916
Ensembl chr  X:74,421,493...74,533,917
JBrowse link
G SLC19A3 solute carrier family 19 member 3 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 NCBI chr 2:227,683,763...227,718,028
Ensembl chr 2:227,683,763...227,718,028
JBrowse link
G SLC30A6 solute carrier family 30 member 6 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:32581362 NCBI chr 2:32,165,864...32,224,379
Ensembl chr 2:32,165,841...32,224,379
JBrowse link
G SLC33A1 solute carrier family 33 member 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:22243965 PMID:24583203 PMID:25741868 PMID:26467025 PMID:27306358 More... NCBI chr 3:155,821,024...155,854,427
Ensembl chr 3:155,821,024...155,854,456
JBrowse link
G SPAG8 sperm associated antigen 8 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 9:35,807,785...35,812,262
Ensembl chr 9:35,808,045...35,812,272
JBrowse link
G SPAST spastin IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:16199547 PMID:16240363 PMID:20932283 PMID:23833562 PMID:25341883 More... NCBI chr 2:32,063,556...32,157,637
Ensembl chr 2:32,063,556...32,157,637
JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:19105190 PMID:20110243 PMID:22154821 PMID:23043354 PMID:23733235 More... NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688
JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spastic paraplegia
CTD
ClinVar
PMID:11549317 NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766
JBrowse link
G TAPBPL TAP binding protein like IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9536098 PMID:11774073 PMID:17576681 PMID:22958904 PMID:26467025 More... NCBI chr12:6,451,649...6,472,006
Ensembl chr12:6,451,690...6,466,517
JBrowse link
G TLN1 talin 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 9:35,696,948...35,732,195
Ensembl chr 9:35,696,948...35,732,195
JBrowse link
G TMEM8B transmembrane protein 8B IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 9:35,829,228...35,865,515
Ensembl chr 9:35,814,451...35,865,518
JBrowse link
G TPM2 tropomyosin 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:28492532 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056
JBrowse link
G TTC27 tetratricopeptide repeat domain 27 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar NCBI chr 2:32,628,050...32,821,051
Ensembl chr 2:32,628,032...32,821,051
JBrowse link
G VAMP1 vesicle associated membrane protein 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:9536098 PMID:11774073 PMID:17576681 PMID:22958904 PMID:26467025 More... NCBI chr12:6,462,237...6,470,677
Ensembl chr12:6,462,237...6,470,677
JBrowse link
G VCP valosin containing protein IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:15034582 PMID:20604808 PMID:22270372 PMID:22909335 PMID:23333620 More... NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668
JBrowse link
G WASHC5 WASH complex subunit 5 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819
JBrowse link
G WASHC5-AS1 WASHC5 antisense RNA 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:125,040,684...125,044,989
Ensembl chr 8:125,040,684...125,044,989
JBrowse link
G YIPF4 Yip1 domain family member 4 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar NCBI chr 2:32,277,904...32,316,594
Ensembl chr 2:32,277,904...32,316,594
JBrowse link
G ZFYVE26 zinc finger FYVE-type containing 26 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:6944241 PMID:9536098 PMID:11342696 PMID:16199547 PMID:17576681 More... NCBI chr14:67,728,892...67,816,590
Ensembl chr14:67,727,374...67,816,590
JBrowse link
G ZFYVE27 zinc finger FYVE-type containing 27 IAGP ClinVar Annotator: match by term: Spastic paraplegia ClinVar PMID:16826525 PMID:18606302 PMID:24668814 PMID:25741868 PMID:28166811 More... NCBI chr10:97,737,128...97,760,895
Ensembl chr10:97,737,121...97,760,907
JBrowse link
3-methylglutaconic aciduria type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 IAGP ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 ClinVar PMID:16055927 PMID:27928778 PMID:28492532 NCBI chr 3:180,983,709...180,989,838
Ensembl chr 3:180,983,697...180,989,774
JBrowse link
G OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 IAGP ClinVar Annotator: match by term: OPTIC ATROPHY 3, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3
ClinVar
OMIM
PMID:9536098 PMID:11668429 PMID:12126933 PMID:15342707 PMID:15902555 More... NCBI chr19:45,527,427...45,584,802
Ensembl chr19:45,527,767...45,602,212
JBrowse link
DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP5MC3 ATP synthase membrane subunit c locus 3 IAGP ClinVar Annotator: match by term: DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA OMIM
ClinVar
PMID:19006192 PMID:34636445 NCBI chr 2:175,176,258...175,181,710
Ensembl chr 2:175,176,258...175,181,710
JBrowse link
Hereditary Spastic Paralysis, Infantile Onset Ascending term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 IAGP ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis
ClinVar Annotator: match by term: Spastic paralysis, infantile onset ascending
ClinVar
OMIM
PMID:9536098 PMID:11586297 PMID:11586298 PMID:12145748 PMID:12509863 More... NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112
JBrowse link
hereditary spastic paraplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD16A abhydrolase domain containing 16A, phospholipase IAGP ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia
ClinVar Annotator: match by term: Complex hereditary spastic paraplegia
ClinVar PMID:25741868 NCBI chr 6:31,686,955...31,703,324
Ensembl chr 6:31,686,955...31,703,356
JBrowse link
G ADAM28 ADAM metallopeptidase domain 28 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 8:24,294,069...24,359,014
Ensembl chr 8:24,294,069...24,359,014
JBrowse link
G ADAM7-AS1 ADAM7, ADAMDEC1 and ADAM28 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 8:24,295,814...24,548,618 JBrowse link
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP DNA:mutations:cds:
ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar
RGD
PMID:25741868 PMID:28492532 PMID:26026163 RGD:13434921 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711
JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:14676054 PMID:18852346 PMID:20077034 PMID:23881933 PMID:25174650 More... NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112
JBrowse link
G AMPD2 adenosine monophosphate deaminase 2 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 NCBI chr 1:109,619,837...109,632,055
Ensembl chr 1:109,616,104...109,632,051
JBrowse link
G AP4B1 adaptor related protein complex 4 subunit beta 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:22290197 PMID:24700674 PMID:24781758 PMID:25167861 More... NCBI chr 1:113,894,194...113,905,028
Ensembl chr 1:113,894,194...113,905,201
JBrowse link
G AP4B1-AS1 AP4B1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:22290197 PMID:24700674 PMID:24781758 PMID:25167861 More... NCBI chr 1:113,812,612...113,901,237
Ensembl chr 1:113,856,635...113,901,237
JBrowse link
G AP4E1 adaptor related protein complex 4 subunit epsilon 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:25741868 PMID:26544806 PMID:28492532 NCBI chr15:50,907,492...51,005,895
Ensembl chr15:50,908,672...51,005,895
JBrowse link
G AP4M1 adaptor related protein complex 4 subunit mu 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:25326635 PMID:25741868 PMID:28492532 PMID:28832565 More... NCBI chr 7:100,100,794...100,109,039
Ensembl chr 7:100,101,549...100,110,345
JBrowse link
G AP4S1 adaptor related protein complex 4 subunit sigma 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr14:31,025,106...31,096,450
Ensembl chr14:31,025,106...31,130,996
JBrowse link
G AP5B1 adaptor related protein complex 5 subunit beta 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr11:65,773,898...65,780,976
Ensembl chr11:65,773,898...65,780,976
JBrowse link
G AP5Z1 adaptor related protein complex 5 subunit zeta 1 IAGP DNA:mutations: :
ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar
RGD
PMID:20613862 PMID:24033266 PMID:24833714 PMID:24926664 PMID:25333062 More... RGD:9684952 NCBI chr 7:4,775,623...4,794,397
Ensembl chr 7:4,775,615...4,794,397
JBrowse link
G ARHGAP9 Rho GTPase activating protein 9 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr12:57,472,269...57,488,824
Ensembl chr12:57,472,264...57,488,814
JBrowse link
G ARSI arylsulfatase family member I IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 NCBI chr 5:150,296,343...150,302,905
Ensembl chr 5:150,296,343...150,339,307
JBrowse link
G ATL1 atlastin GTPase 1 IAGP ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar PMID:8252041 PMID:11685207 PMID:14607301 PMID:15517445 PMID:15596607 More... NCBI chr14:50,533,082...50,633,068
Ensembl chr14:50,532,509...50,634,017
JBrowse link
G BICD2 BICD cargo adaptor 2 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:23664116 PMID:25741868 PMID:26467025 PMID:27549087 PMID:28492532 More... NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833
JBrowse link
G BORCS7 BLOC-1 related complex subunit 7 ISS MouseDO NCBI chr10:102,854,259...102,864,961
Ensembl chr10:102,854,259...102,864,961
JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP SPG17, OMIM:270685, DNA:point mutation:exon:N88S
ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar
RGD
PMID:1674639 PMID:5964029 PMID:11479539 PMID:14981520 PMID:15732094 More... RGD:1600602 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845
JBrowse link
G C19orf12 chromosome 19 open reading frame 12 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:21981780 PMID:24361204 PMID:25558065 PMID:25741868 PMID:27112773 More... NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789
JBrowse link
G CCT5 chaperonin containing TCP1 subunit 5 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 NCBI chr 5:10,249,921...10,266,412
Ensembl chr 5:10,249,929...10,266,389
JBrowse link
G CEP63 centrosomal protein 63 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28488683 NCBI chr 3:134,485,724...134,782,559
Ensembl chr 3:134,485,699...134,587,789
JBrowse link
G CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:102,918,294...103,090,222
Ensembl chr10:102,918,294...103,090,222
JBrowse link
G CYP2U1 cytochrome P450 family 2 subfamily U member 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:23176821 PMID:25741868 PMID:28492532 PMID:29034544 NCBI chr 4:107,931,549...107,953,461
Ensembl chr 4:107,931,549...107,953,461
JBrowse link
G CYP2U1-AS1 CYP2U1 and SGMS2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 PMID:29034544 NCBI chr 4:107,863,479...107,932,119
Ensembl chr 4:107,863,473...107,989,692
JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 IAGP
EXP
ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1943942 PMID:2411763 PMID:7987300 PMID:12874406 PMID:15007371 More... NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737
JBrowse link
G DCLRE1B DNA cross-link repair 1B IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:113,904,619...113,914,086
Ensembl chr 1:113,905,213...113,914,086
JBrowse link
G DDHD1 DDHD domain containing 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:23176821 PMID:24989667 PMID:25741868 PMID:26944165 PMID:27216551 More... NCBI chr14:53,036,755...53,153,323
Ensembl chr14:53,036,745...53,153,323
JBrowse link
G DDHD2 DDHD domain containing 2 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:23176823 PMID:24337409 PMID:24517879 More... NCBI chr 8:38,231,585...38,273,647
Ensembl chr 8:38,225,218...38,275,558
JBrowse link
G DNAJC16 DnaJ heat shock protein family (Hsp40) member C16 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 1:15,526,848...15,571,733
Ensembl chr 1:15,526,813...15,592,379
JBrowse link
G EIF3J eukaryotic translation initiation factor 3 subunit J IAGP ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar NCBI chr15:44,537,147...44,562,803
Ensembl chr15:44,537,125...44,563,029
JBrowse link
G ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:95,694,186...95,877,266
Ensembl chr10:95,711,779...95,877,266
JBrowse link
G ENTPD1-AS1 ENTPD1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:95,753,206...96,090,235
Ensembl chr10:95,732,976...96,090,250
JBrowse link
G ERLIN1 ER lipid raft associated 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:100,150,094...100,186,029
Ensembl chr10:100,150,094...100,186,033
JBrowse link
G ERLIN2 ER lipid raft associated 2 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:25741868 PMID:28492532 PMID:28832565 PMID:30564185 NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422
JBrowse link
G FA2H fatty acid 2-hydroxylase IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:20104589 PMID:22146942 PMID:23566484 PMID:24033266 More... NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831
JBrowse link
G FANCI FA complementation group I IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 More... NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261
JBrowse link
G FLRT1 fibronectin leucine rich transmembrane protein 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr11:64,035,931...64,119,171
Ensembl chr11:64,035,931...64,119,173
JBrowse link
G GAD1 glutamate decarboxylase 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 NCBI chr 2:170,813,210...170,861,151
Ensembl chr 2:170,813,213...170,861,151
JBrowse link
G GBA2 glucosylceramidase beta 2 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar Annotator: match by term: Spastic Paraplegia, Dominant
ClinVar PMID:20593214 PMID:23332916 PMID:23332917 PMID:25741868 PMID:26220345 More... NCBI chr 9:35,736,866...35,749,228
Ensembl chr 9:35,736,866...35,749,228
JBrowse link
G GJC2 gap junction protein gamma 2 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:22351697 PMID:22833003 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:228,149,930...228,159,826
Ensembl chr 1:228,149,930...228,159,826
JBrowse link
G HNRNPUL2-BSCL2 HNRNPUL2-BSCL2 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:1674639 PMID:5964029 PMID:11479539 PMID:14981520 PMID:15732094 More... NCBI chr11:62,690,262...62,727,384
Ensembl chr11:62,690,275...62,727,384
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 susceptibility IAGP DNA:missense mutation: :p.V72I
ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar
RGD
PMID:18414213 PMID:22552817 PMID:24033266 PMID:25741868 PMID:26467025 More... RGD:1624200 NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737
JBrowse link
G JAK3 Janus kinase 3 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071
JBrowse link
G KIF1A kinesin family member 1A IAGP DNA:missense mutations: :p.V8M, p.I27T (human)
ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar
RGD
PMID:21376300 PMID:25265257 PMID:25585697 PMID:25741868 PMID:26077850 More... RGD:12911231 NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293
JBrowse link
G KIF1C kinesin family member 1C IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:17576681 PMID:24088041 PMID:24482476 PMID:25741868 More... NCBI chr17:4,997,950...5,028,401
Ensembl chr17:4,997,950...5,028,401
JBrowse link
G KIF5A kinesin family member 5A IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar PMID:15452312 PMID:18203753 PMID:18500496 PMID:18853458 PMID:21623771 More... NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633
JBrowse link
G KY kyphoscoliosis peptidase IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28488683 NCBI chr 3:134,599,923...134,651,022
Ensembl chr 3:134,599,923...134,651,636
JBrowse link
G L1CAM L1 cell adhesion molecule IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9195224 PMID:9268105 PMID:10797421 PMID:11438988 PMID:11772994 More... NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,514...153,886,173
JBrowse link
G L2HGDH L-2-hydroxyglutarate dehydrogenase IAGP DNA:mutation:cds:c.241A4G(p.K81E)(human) RGD PMID:24573090 RGD:13506824 NCBI chr14:50,242,434...50,312,229
Ensembl chr14:50,237,563...50,312,229
JBrowse link
G MACROD1 mono-ADP ribosylhydrolase 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr11:63,998,558...64,166,113
Ensembl chr11:63,998,558...64,166,113
JBrowse link
G MAG myelin associated glycoprotein IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 PMID:28832565 NCBI chr19:35,292,161...35,313,807
Ensembl chr19:35,292,125...35,313,807
JBrowse link
G MARS1 methionyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569
JBrowse link
G MCOLN1 mucolipin TRP cation channel 1 IAGP ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:7,522,624...7,534,009
Ensembl chr19:7,522,624...7,534,009
JBrowse link
G MILR1 mast cell immunoglobulin like receptor 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 More... NCBI chr17:64,449,115...64,497,356
Ensembl chr17:64,449,037...64,468,643
JBrowse link
G MIR6766 microRNA 6766 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:89,326,739...89,326,810
Ensembl chr15:89,326,739...89,326,810
JBrowse link
G MTRFR mitochondrial translation release factor in rescue IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr12:123,232,914...123,257,960
Ensembl chr12:123,233,385...123,258,079
JBrowse link
G MYT1 myelin transcription factor 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr20:64,164,452...64,242,253
Ensembl chr20:64,102,394...64,242,253
JBrowse link
G NIPA1 NIPA magnesium transporter 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:15643603 PMID:15711826 PMID:16267846 PMID:17092466 PMID:17166836 More... NCBI chr15:22,786,225...22,829,789
Ensembl chr15:22,773,063...22,829,789
JBrowse link
G NRG1 neuregulin 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 8:31,639,245...32,774,046
Ensembl chr 8:31,639,222...32,855,666
JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:103,088,017...103,193,272
Ensembl chr10:103,087,185...103,277,605
JBrowse link
G PGAP1 post-GPI attachment to proteins inositol deacylase 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:196,833,004...196,926,707
Ensembl chr 2:196,833,004...196,927,796
JBrowse link
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr 1:6,466,092...6,520,092
Ensembl chr 1:6,467,122...6,520,074
JBrowse link
G PLP1 proteolipid protein 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619
JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 IAGP
EXP
ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:3963113 PMID:8053762 PMID:18313024 PMID:20382209 PMID:20603202 More... NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:9536098 More... NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 More... NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054
JBrowse link
G PQBP1 polyglutamine binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:14634649 NCBI chr  X:48,897,930...48,903,143
Ensembl chr  X:48,890,197...48,903,402
JBrowse link
G RAB9B RAB9B, member RAS oncogene family IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:103,776,324...103,832,257
Ensembl chr  X:103,822,327...103,832,257
JBrowse link
G REEP1 receptor accessory protein 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:16199547 PMID:16826527 PMID:18321925 PMID:18644145 PMID:19034539 More... NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083
JBrowse link
G RETREG1 reticulophagy regulator 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 NCBI chr 5:16,473,053...16,616,997
Ensembl chr 5:16,473,038...16,617,101
JBrowse link
G RETREG1-AS1 RETREG1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 NCBI chr 5:16,615,926...16,629,969
Ensembl chr 5:16,615,926...16,681,905
JBrowse link
G RTN2 reticulon 2 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:45,485,294...45,497,047
Ensembl chr19:45,485,294...45,497,055
JBrowse link
G SACS sacsin molecular chaperone IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:10610707 PMID:10655055 PMID:11788093 PMID:14718706 PMID:15156359 More... NCBI chr13:23,328,830...23,433,702
Ensembl chr13:23,288,689...23,433,763
JBrowse link
G SETX senataxin IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:17096168 PMID:17159128 PMID:18058631 PMID:19569000 PMID:19696032 More... NCBI chr 9:132,261,356...132,356,744
Ensembl chr 9:132,261,356...132,354,986
JBrowse link
G SLC16A2 solute carrier family 16 member 2 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:18414213 PMID:23568789 PMID:24265446 PMID:24721225 PMID:25527620 More... NCBI chr  X:74,421,493...74,533,916
Ensembl chr  X:74,421,493...74,533,917
JBrowse link
G SLC1A5 solute carrier family 1 member 5 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar NCBI chr19:46,774,883...46,788,594
Ensembl chr19:46,774,883...46,788,594
JBrowse link
G SLC33A1 solute carrier family 33 member 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:24583203 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:155,821,024...155,854,427
Ensembl chr 3:155,821,024...155,854,456
JBrowse link
G SPART spartin IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:23699601 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr13:36,301,638...36,370,180
Ensembl chr13:36,301,638...36,370,180
JBrowse link
G SPAST spastin IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:9536098 PMID:10610178 PMID:10699187 PMID:11015453 PMID:11039577 More... NCBI chr 2:32,063,556...32,157,637
Ensembl chr 2:32,063,556...32,157,637
JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar PMID:9536098 PMID:16199547 PMID:17322883 PMID:17576681 PMID:17717710 More... NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688
JBrowse link
G SPG21 SPG21 abhydrolase domain containing, maspardin susceptibility IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar
RGD
PMID:14564668 PMID:25741868 PMID:26467025 PMID:28492532 PMID:14564668 RGD:1556574 NCBI chr15:64,963,022...64,989,914
Ensembl chr15:64,963,022...64,990,310
JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar PMID:1899786 PMID:11222789 PMID:11478530 PMID:14722615 PMID:14985266 More... NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766
JBrowse link
G TECPR2 tectonin beta-propeller repeat containing 2 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia
CTD
ClinVar
PMID:23176824 PMID:25741868 PMID:27406698 PMID:28492532 PMID:30681437 More... NCBI chr14:102,362,941...102,502,477
Ensembl chr14:102,362,941...102,502,477
JBrowse link
G TWNK twinkle mtDNA helicase IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:21689831 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403
JBrowse link
G USP50 ubiquitin specific peptidase 50 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 NCBI chr15:50,493,025...50,546,666
Ensembl chr15:50,494,018...50,546,708
JBrowse link
G USP8 ubiquitin specific peptidase 8 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28492532 NCBI chr15:50,424,405...50,514,421
Ensembl chr15:50,424,380...50,514,421
JBrowse link
G VPS37A VPS37A subunit of ESCRT-I IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:17,246,958...17,333,455
Ensembl chr 8:17,246,931...17,302,427
JBrowse link
G WASHC5 WASH complex subunit 5 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:17160902 PMID:25741868 PMID:26467025 PMID:27957547 PMID:28492532 NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819
JBrowse link
G WASHC5-AS1 WASHC5 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:125,040,684...125,044,989
Ensembl chr 8:125,040,684...125,044,989
JBrowse link
G WDR48 WD repeat domain 48 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar PMID:28832565 NCBI chr 3:39,052,016...39,096,664
Ensembl chr 3:39,052,013...39,096,671
JBrowse link
G ZFR zinc finger RNA binding protein IAGP ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia
ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 5:32,354,350...32,444,740
Ensembl chr 5:32,354,350...32,444,740
JBrowse link
G ZFYVE26 zinc finger FYVE-type containing 26 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia
ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
ClinVar PMID:6944241 PMID:16199547 PMID:18394578 PMID:19805727 PMID:19917823 More... NCBI chr14:67,728,892...67,816,590
Ensembl chr14:67,727,374...67,816,590
JBrowse link
hereditary spastic paraplegia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATL1 atlastin GTPase 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr14:50,533,082...50,633,068
Ensembl chr14:50,532,509...50,634,017
JBrowse link
G ERLIN2 ER lipid raft associated 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422
JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737
JBrowse link
G KIF5A kinesin family member 5A ISO
IAGP
ClinVar Annotator: match by term: Hereditary spastic paraplegia 10
ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY
DNA:missense mutation:cds:p.R280C (human)
DNA:missense mutation:cds:p.L259Q (human)
DNA:missense mutation, nonsense mutation:cds:p.L249V, p.R864* (human)
DNA:missense mutation:cds:p.R162W (human)
DNA:missense mutation:cds:p.N256S (human)
DNA:missense mutation, deletion, snp:cds:p.K253N, p.N256del c.217G>A (human)
ClinVar
OMIM
RGD
PMID:9536098 PMID:12355402 PMID:15452312 PMID:16476820 PMID:16489470 More... RGD:12793060, RGD:12859091, RGD:12859090, RGD:12793069, RGD:12793068, RGD:12793065, RGD:12793061 NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633
JBrowse link
G NIPA1 NIPA magnesium transporter 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:28492532 NCBI chr15:22,786,225...22,829,789
Ensembl chr15:22,773,063...22,829,789
JBrowse link
G REEP1 receptor accessory protein 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083
JBrowse link
G RTN2 reticulon 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:45,485,294...45,497,047
Ensembl chr19:45,485,294...45,497,055
JBrowse link
G SLC33A1 solute carrier family 33 member 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 3:155,821,024...155,854,427
Ensembl chr 3:155,821,024...155,854,456
JBrowse link
G SPAST spastin IAGP ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar PMID:26467025 PMID:28492532 NCBI chr 2:32,063,556...32,157,637
Ensembl chr 2:32,063,556...32,157,637
JBrowse link
G WASHC5 WASH complex subunit 5 IAGP ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819
JBrowse link
G ZFYVE27 zinc finger FYVE-type containing 27 IAGP ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar NCBI chr10:97,737,128...97,760,895
Ensembl chr10:97,737,121...97,760,907
JBrowse link
hereditary spastic paraplegia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B2M beta-2-microglobulin IAGP ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive ClinVar PMID:28492532 NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851
JBrowse link
G EIF3J eukaryotic translation initiation factor 3 subunit J IAGP ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive ClinVar NCBI chr15:44,537,147...44,562,803
Ensembl chr15:44,537,125...44,563,029
JBrowse link
G PATL2 PAT1 homolog 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive ClinVar PMID:19105190 PMID:20110243 PMID:22154821 PMID:28492532 NCBI chr15:44,665,732...44,711,390
Ensembl chr15:44,665,732...44,711,323
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214
JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia 11
ClinVar
OMIM
PMID:2795747 PMID:9536098 PMID:16199547 PMID:16773502 PMID:17322883 More... NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688
JBrowse link
G TBR1 T-box brain transcription factor 1 IAGP ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chr 2:161,416,297...161,425,870
Ensembl chr 2:161,416,297...161,425,870
JBrowse link
G TRIM69 tripartite motif containing 69 IAGP ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive ClinVar PMID:28492532 NCBI chr15:44,736,528...44,767,827
Ensembl chr15:44,728,988...44,767,829
JBrowse link
hereditary spastic paraplegia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RTN2 reticulon 2 IAGP ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT
ClinVar Annotator: match by term: Hereditary spastic paraplegia 12
ClinVar
OMIM
PMID:10677333 PMID:12427890 PMID:22232211 PMID:25741868 PMID:26467025 More... NCBI chr19:45,485,294...45,497,047
Ensembl chr19:45,485,294...45,497,055
JBrowse link
hereditary spastic paraplegia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO
IAGP
EXP
ClinVar Annotator: match by term: Hereditary spastic paraplegia 13
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:10677329 PMID:17420924 PMID:18414213 PMID:18571143 PMID:22552817 More... RGD:10402832 NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737
JBrowse link
hereditary spastic paraplegia 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZFYVE26 zinc finger FYVE-type containing 26 IAGP ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Hereditary spastic paraplegia 15
ClinVar Annotator: match by term: Spastic paraplegia 15
ClinVar
OMIM
PMID:6944241 PMID:9536098 PMID:11342696 PMID:16199547 PMID:17576681 More... NCBI chr14:67,728,892...67,816,590
Ensembl chr14:67,727,374...67,816,590
JBrowse link
hereditary spastic paraplegia 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP ClinVar Annotator: match by term: Autosomal dominant spastic paraplegia type 17
ClinVar Annotator: match by term: Spastic paraplegia 17
OMIM
ClinVar
PMID:1674639 PMID:5964029 PMID:14981520 PMID:15732094 PMID:16427281 More... NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845
JBrowse link
G HNRNPUL2-BSCL2 HNRNPUL2-BSCL2 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Spastic paraplegia 17
ClinVar Annotator: match by term: Autosomal dominant spastic paraplegia type 17
ClinVar PMID:1674639 PMID:5964029 PMID:14981520 PMID:15732094 PMID:16427281 More... NCBI chr11:62,690,262...62,727,384
Ensembl chr11:62,690,275...62,727,384
JBrowse link
G SON SON DNA and RNA binding protein IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 17 ClinVar PMID:25590979 PMID:25741868 PMID:25741875 PMID:27256762 PMID:27545676 More... NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481
JBrowse link
hereditary spastic paraplegia 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERLIN2 ER lipid raft associated 2 IAGP ClinVar Annotator: match by term: INTELLECTUAL DISABILITY, MOTOR DYSFUNCTION, AND JOINT CONTRACTURES
ClinVar Annotator: match by term: Hereditary spastic paraplegia 18
ClinVar
OMIM
PMID:21330303 PMID:23109145 PMID:25741868 NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422
JBrowse link
hereditary spastic paraplegia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MORF4L2 mortality factor 4 like 2 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:103,675,498...103,688,047
Ensembl chr  X:103,675,496...103,688,158
JBrowse link
G PLP1 proteolipid protein 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 2
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 2, X-LINKED
ClinVar Annotator: match by term: Spastic paraplegia 2
OMIM
ClinVar
PMID:1720927 PMID:2479017 PMID:2480601 PMID:2773936 PMID:7522741 More... NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619
JBrowse link
G RAB9B RAB9B, member RAS oncogene family IAGP ClinVar Annotator: match by term: Spastic paraplegia 2
ClinVar Annotator: match by term: Hereditary spastic paraplegia 2
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 2, X-LINKED
ClinVar PMID:2479017 PMID:2480601 PMID:2773936 PMID:7522741 PMID:7531827 More... NCBI chr  X:103,776,324...103,832,257
Ensembl chr  X:103,822,327...103,832,257
JBrowse link
G TCEAL1 transcription elongation factor A like 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:103,628,716...103,630,953
Ensembl chr  X:103,628,704...103,630,953
JBrowse link
G TCEAL3 transcription elongation factor A like 3 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:103,607,963...103,609,927
Ensembl chr  X:103,607,451...103,629,690
JBrowse link
G TCEAL4 transcription elongation factor A like 4 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:103,576,231...103,587,729
Ensembl chr  X:103,576,231...103,587,729
JBrowse link
G TMEM31 transmembrane protein 31 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:103,710,909...103,714,032
Ensembl chr  X:103,710,909...103,714,032
JBrowse link
G TMSB15B thymosin beta 15B IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 More... NCBI chr  X:103,919,155...103,974,426
Ensembl chr  X:104,063,871...104,076,212
Ensembl chr  X:104,063,871...104,076,212
JBrowse link
hereditary spastic paraplegia 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSTYK dual serine/threonine and tyrosine protein kinase IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 23 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:33624863 NCBI chr 1:205,142,505...205,211,702
Ensembl chr 1:205,142,505...205,211,702
JBrowse link
hereditary spastic paraplegia 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 IAGP ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Hereditary spastic paraplegia 26
ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23746551 PMID:25741868 More... NCBI chr12:57,623,409...57,633,201
Ensembl chr12:57,623,409...57,633,239
JBrowse link
hereditary spastic paraplegia 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DDHD1 DDHD domain containing 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 28, autosomal recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia 28
ClinVar
OMIM
PMID:9536098 PMID:15786464 PMID:17576681 PMID:23176821 PMID:24989667 More... NCBI chr14:53,036,755...53,153,323
Ensembl chr14:53,036,745...53,153,323
JBrowse link
hereditary spastic paraplegia 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGXT alanine--glyoxylate and serine--pyruvate aminotransferase IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:240,868,824...240,880,500
Ensembl chr 2:240,868,824...240,880,502
JBrowse link
G ANKMY1 ankyrin repeat and MYND domain containing 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:240,468,632...240,561,064
Ensembl chr 2:240,479,422...240,569,209
JBrowse link
G ANO7 anoctamin 7 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:241,188,677...241,240,308
Ensembl chr 2:241,188,509...241,225,976
JBrowse link
G AQP12A aquaporin 12A IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:240,691,866...240,698,483
Ensembl chr 2:240,691,866...240,698,483
JBrowse link
G AQP12B aquaporin 12B IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:240,676,418...240,683,810
Ensembl chr 2:240,676,418...240,682,906
JBrowse link
G ASB1 ankyrin repeat and SOCS box containing 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:238,426,927...238,452,250
Ensembl chr 2:238,426,742...238,452,250
JBrowse link
G ATG4B autophagy related 4B cysteine peptidase IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:241,637,693...241,673,857
Ensembl chr 2:241,637,213...241,673,857
JBrowse link
G BOK BCL2 family apoptosis regulator BOK IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:241,551,393...241,574,131
Ensembl chr 2:241,551,424...241,574,131
JBrowse link
G CAPN10 calpain 10 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:240,586,734...240,599,104
Ensembl chr 2:240,586,734...240,617,705
JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328
JBrowse link
G COPS9 COP9 signalosome subunit 9 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:240,126,548...240,136,347
Ensembl chr 2:240,126,563...240,136,807
JBrowse link
G D2HGDH D-2-hydroxyglutarate dehydrogenase IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:241,734,630...241,768,811
Ensembl chr 2:241,734,602...241,768,816
JBrowse link
G DTYMK deoxythymidylate kinase IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:241,675,747...241,686,815
Ensembl chr 2:241,675,747...241,686,944
JBrowse link
G DUSP28 dual specificity phosphatase 28 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:240,560,054...240,565,256
Ensembl chr 2:240,560,054...240,565,256
JBrowse link
G ERFE erythroferrone IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:238,158,970...238,168,890
Ensembl chr 2:238,158,970...238,168,900
JBrowse link
G ESPNL espin like IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:238,100,340...238,133,287
Ensembl chr 2:238,100,340...238,133,287
JBrowse link
G FARP2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:241,356,285...241,494,841
Ensembl chr 2:241,356,285...241,494,841
JBrowse link
G GAL3ST2 galactose-3-O-sulfotransferase 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:241,776,822...241,804,287
Ensembl chr 2:241,776,822...241,804,287
JBrowse link
G GPC1 glypican 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:240,435,663...240,468,076
Ensembl chr 2:240,435,663...240,468,076
JBrowse link
G GPR35 G protein-coupled receptor 35 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:240,605,430...240,633,159
Ensembl chr 2:240,605,430...240,633,159
JBrowse link
G HDAC4 histone deacetylase 4 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654
JBrowse link
G HDLBP high density lipoprotein binding protein IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:241,227,291...241,315,672
Ensembl chr 2:241,227,264...241,317,061
JBrowse link
G HES6 hes family bHLH transcription factor 6 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:238,238,267...238,240,038
Ensembl chr 2:238,238,267...238,240,662
JBrowse link
G ILKAP ILK associated serine/threonine phosphatase IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:238,170,402...238,203,695
Ensembl chr 2:238,170,402...238,203,708
JBrowse link
G ING5 inhibitor of growth family member 5 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:241,687,020...241,729,478
Ensembl chr 2:241,687,085...241,729,478
JBrowse link
G KIF1A kinesin family member 1A IAGP DNA:missense mutations: :p.A255V, p.R350G (human)
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30
ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive
DNA:missense mutation: :p.A255V (human)
ClinVar
OMIM
RGD
PMID:9536098 PMID:16199547 PMID:16434418 PMID:17576681 PMID:18414213 More... RGD:12911224, RGD:12911228 NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293
JBrowse link
G KLHL30 kelch like family member 30 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:238,138,668...238,152,947
Ensembl chr 2:238,138,668...238,152,947
JBrowse link
G LRRFIP1 LRR binding FLII interacting protein 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:237,627,587...237,781,643
Ensembl chr 2:237,627,587...237,813,682
JBrowse link
G MAB21L4 mab-21 like 4 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:240,886,048...240,896,839
Ensembl chr 2:240,886,048...240,896,889
JBrowse link
G MIR149 microRNA 149 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:240,456,001...240,456,089
Ensembl chr 2:240,456,001...240,456,089
JBrowse link
G MLPH melanophilin IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:237,486,410...237,555,322
Ensembl chr 2:237,485,428...237,555,322
JBrowse link
G MTERF4 mitochondrial transcription termination factor 4 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:241,042,586...241,102,287
Ensembl chr 2:241,072,169...241,102,332
JBrowse link
G NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:239,892,442...240,025,342
Ensembl chr 2:239,892,450...240,025,743
JBrowse link
G NEU4 neuraminidase 4 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:241,809,193...241,817,413
Ensembl chr 2:241,809,065...241,817,413
JBrowse link
G OR6B2 olfactory receptor family 6 subfamily B member 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:240,029,491...240,030,429
Ensembl chr 2:240,029,491...240,030,429
JBrowse link
G OR6B3 olfactory receptor family 6 subfamily B member 3 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:240,044,571...240,053,521
Ensembl chr 2:240,045,077...240,047,027
JBrowse link
G OTOS otospiralin IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:240,139,026...240,140,658
Ensembl chr 2:240,139,026...240,144,562
JBrowse link
G PASK PAS domain containing serine/threonine kinase IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:241,106,099...241,150,347
Ensembl chr 2:241,106,099...241,150,264
JBrowse link
G PDCD1 programmed cell death 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
JBrowse link
G PER2 period circadian regulator 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:238,244,044...238,300,065
Ensembl chr 2:238,244,044...238,290,102
JBrowse link
G PPP1R7 protein phosphatase 1 regulatory subunit 7 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:241,149,573...241,183,652
Ensembl chr 2:241,149,576...241,183,652
JBrowse link
G PRLH prolactin releasing hormone IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:237,566,574...237,567,175
Ensembl chr 2:237,566,574...237,567,175
JBrowse link
G PRR21 proline rich 21 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:240,041,813...240,042,982 JBrowse link
G RAB17 RAB17, member RAS oncogene family IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:237,574,326...237,590,734
Ensembl chr 2:237,574,322...237,601,614
JBrowse link
G RAMP1 receptor activity modifying protein 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:237,858,880...237,912,106
Ensembl chr 2:237,858,893...237,912,106
JBrowse link
G RBM44 RNA binding motif protein 44 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:237,798,779...237,842,805
Ensembl chr 2:237,798,389...237,842,808
JBrowse link
G RNPEPL1 arginyl aminopeptidase like 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:240,568,484...240,581,372
Ensembl chr 2:240,565,804...240,581,372
JBrowse link
G SCLY selenocysteine lyase IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:238,061,001...238,099,413
Ensembl chr 2:238,060,924...238,099,413
JBrowse link
G SEPTIN2 septin 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:241,315,355...241,354,027
Ensembl chr 2:241,315,100...241,354,027
JBrowse link
G SNED1 sushi, nidogen and EGF like domains 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:240,997,650...241,095,568
Ensembl chr 2:240,998,618...241,095,568
JBrowse link
G STK25 serine/threonine kinase 25 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:241,492,670...241,509,572
Ensembl chr 2:241,492,670...241,509,730
JBrowse link
G THAP4 THAP domain containing 4 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:241,584,405...241,637,576
Ensembl chr 2:241,584,405...241,637,158
JBrowse link
G TRAF3IP1 TRAF3 interacting protein 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:238,320,518...238,400,900
Ensembl chr 2:238,320,441...238,400,897
JBrowse link
G TWIST2 twist family bHLH transcription factor 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:238,848,085...238,910,534
Ensembl chr 2:238,848,032...238,910,534
JBrowse link
G UBE2F ubiquitin conjugating enzyme E2 F (putative) IAGP ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar PMID:20691407 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 More... NCBI chr 2:237,967,014...238,042,782
Ensembl chr 2:237,966,827...238,042,782
JBrowse link
hereditary spastic paraplegia 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC112841602 Sharpr-MPRA regulatory region 10968 IAGP ClinVar Annotator: match by term: Spastic paraplegia 31, autosomal dominant ClinVar PMID:18321925 PMID:28492532 NCBI chr 2:86,218,166...86,218,460 JBrowse link
G LOC122787147 Sharpr-MPRA regulatory region 10790 IAGP ClinVar Annotator: match by term: Spastic paraplegia 31, autosomal dominant ClinVar PMID:18321925 PMID:28492532 NCBI chr 2:86,235,466...86,235,760 JBrowse link
G REEP1 receptor accessory protein 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 31, autosomal dominant
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31
ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:16826527 PMID:17576681 PMID:18321925 More... NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083
JBrowse link
hereditary spastic paraplegia 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP4M1 adaptor related protein complex 4 subunit mu 1 IAGP ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:28492532 NCBI chr 7:100,100,794...100,109,039
Ensembl chr 7:100,101,549...100,110,345
JBrowse link
G ATP13A2 ATPase cation transporting 13A2 IAGP ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:25741868 NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928
JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin IAGP ClinVar Annotator: match by term: Spastic tetraparesis ClinVar PMID:25741868 NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766
JBrowse link
G ZFYVE27 zinc finger FYVE-type containing 27 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 33
ClinVar Annotator: match by term: Spastic paraplegia 33, autosomal dominant
ClinVar Annotator: match by term: Spastic tetraparesis
OMIM
ClinVar
PMID:16826525 PMID:18606302 PMID:24668814 PMID:25741868 PMID:28492532 More... NCBI chr10:97,737,128...97,760,895
Ensembl chr10:97,737,121...97,760,907
JBrowse link
hereditary spastic paraplegia 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FA2H fatty acid 2-hydroxylase IAGP ClinVar Annotator: match by term: Spastic paraplegia 35
ClinVar Annotator: match by term: Hereditary spastic paraplegia 35
ClinVar Annotator: match by term: Spastic paraplegia type 35
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:18414213 PMID:19068277 PMID:20104589 More... NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831
JBrowse link
hereditary spastic paraplegia 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MCOLN1 mucolipin TRP cation channel 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:7,522,624...7,534,009
Ensembl chr19:7,522,624...7,534,009
JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 IAGP ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Hereditary spastic paraplegia 39
ClinVar Annotator: match by term: NTE related motor neuron disorder
ClinVar
OMIM
PMID:3963113 PMID:8053762 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764
JBrowse link
hereditary spastic paraplegia 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATL1 atlastin GTPase 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 3
ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A
ClinVar
OMIM
PMID:4684346 PMID:8252041 PMID:9536098 PMID:11685207 PMID:12112092 More... NCBI chr14:50,533,082...50,633,068
Ensembl chr14:50,532,509...50,634,017
JBrowse link
G MAP4K5 mitogen-activated protein kinase kinase kinase kinase 5 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A ClinVar PMID:9536098 PMID:17576681 PMID:26467025 PMID:28492532 NCBI chr14:50,418,521...50,561,126
Ensembl chr14:50,418,501...50,561,126
JBrowse link
hereditary spastic paraplegia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BIRC6 baculoviral IAP repeat containing 6 IAGP ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:25065914 PMID:25741868 NCBI chr 2:32,357,023...32,618,878
Ensembl chr 2:32,357,023...32,618,878
JBrowse link
G DPY30 dpy-30 histone methyltransferase complex regulatory subunit IAGP ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:25065914 PMID:28492532 NCBI chr 2:32,011,649...32,039,835
Ensembl chr 2:31,867,809...32,039,805
JBrowse link
G GNAS GNAS complex locus IAGP ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:25741868 PMID:25802881 PMID:29072892 PMID:34008892 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G LTBP1 latent transforming growth factor beta binding protein 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:25065914 NCBI chr 2:32,946,953...33,399,509
Ensembl chr 2:32,946,953...33,399,509
JBrowse link
G MEMO1 mediator of cell motility 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:28492532 NCBI chr 2:31,867,823...32,011,008
Ensembl chr 2:31,865,060...32,011,230
JBrowse link
G NLRC4 NLR family CARD domain containing 4 IAGP ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:25065914 PMID:25741868 PMID:28492532 NCBI chr 2:32,224,449...32,265,743
Ensembl chr 2:32,224,453...32,265,732
JBrowse link
G SLC30A6 solute carrier family 30 member 6 IAGP ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:25065914 PMID:25741868 PMID:28492532 NCBI chr 2:32,165,864...32,224,379
Ensembl chr 2:32,165,841...32,224,379
JBrowse link
G SPAST spastin IAGP ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4
ClinVar Annotator: match by term: Spastic paraplegia 4, modifier of
ClinVar
OMIM
PMID:9536098 PMID:9695811 PMID:10493830 PMID:10610178 PMID:10699187 More... NCBI chr 2:32,063,556...32,157,637
Ensembl chr 2:32,063,556...32,157,637
JBrowse link
G SRD5A2 steroid 5 alpha-reductase 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:28492532 NCBI chr 2:31,522,480...31,663,009
Ensembl chr 2:31,522,480...31,580,938
JBrowse link
G TTC27 tetratricopeptide repeat domain 27 IAGP ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:25065914 PMID:25741868 NCBI chr 2:32,628,050...32,821,051
Ensembl chr 2:32,628,032...32,821,051
JBrowse link
G XDH xanthine dehydrogenase IAGP ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:28492532 NCBI chr 2:31,334,321...31,414,742
Ensembl chr 2:31,334,321...31,414,742
JBrowse link
G YIPF4 Yip1 domain family member 4 IAGP ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant ClinVar PMID:25065914 PMID:25741868 NCBI chr 2:32,277,904...32,316,594
Ensembl chr 2:32,277,904...32,316,594
JBrowse link
hereditary spastic paraplegia 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC33A1 solute carrier family 33 member 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 42, autosomal dominant ClinVar
OMIM
PMID:19061983 PMID:24583203 PMID:25402622 PMID:25741868 PMID:26467025 More... NCBI chr 3:155,821,024...155,854,427
Ensembl chr 3:155,821,024...155,854,456
JBrowse link
hereditary spastic paraplegia 43 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C19orf12 chromosome 19 open reading frame 12 IAGP ClinVar Annotator: match by term: Spastic paraplegia 43, autosomal recessive ClinVar
OMIM
PMID:18414213 PMID:20039086 PMID:21981780 PMID:22584950 PMID:23166001 More... NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789
JBrowse link
hereditary spastic paraplegia 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJC2 gap junction protein gamma 2 IAGP DNA:missense mutation:cds:p.I33M (human)
ClinVar Annotator: match by term: Spastic paraplegia 44, autosomal recessive
ClinVar
OMIM
RGD
PMID:19056803 PMID:25741868 PMID:27057822 PMID:28492532 PMID:19056803 RGD:13208577 NCBI chr 1:228,149,930...228,159,826
Ensembl chr 1:228,149,930...228,159,826
JBrowse link
hereditary spastic paraplegia 45 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia 45, autosomal recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr10:102,918,294...103,090,222
Ensembl chr10:102,918,294...103,090,222
JBrowse link
G NT5C2 5'-nucleotidase, cytosolic II IAGP ClinVar Annotator: match by term: Spastic paraplegia 45, autosomal recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia 45
ClinVar
OMIM
PMID:16199547 PMID:19415352 PMID:24482476 PMID:25741868 PMID:28492532 More... NCBI chr10:103,088,017...103,193,272
Ensembl chr10:103,087,185...103,277,605
JBrowse link
hereditary spastic paraplegia 46 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GBA2 glucosylceramidase beta 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia 46, autosomal recessive ClinVar
OMIM
PMID:20593214 PMID:23332916 PMID:23332917 PMID:24252062 PMID:25741868 More... NCBI chr 9:35,736,866...35,749,228
Ensembl chr 9:35,736,866...35,749,228
JBrowse link
hereditary spastic paraplegia 47 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP4B1 adaptor related protein complex 4 subunit beta 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 47, autosomal recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:18414213 PMID:21440262 PMID:21620353 More... NCBI chr 1:113,894,194...113,905,028
Ensembl chr 1:113,894,194...113,905,201
JBrowse link
G AP4B1-AS1 AP4B1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 47, autosomal recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:21440262 PMID:21620353 More... NCBI chr 1:113,812,612...113,901,237
Ensembl chr 1:113,856,635...113,901,237
JBrowse link
G DCLRE1B DNA cross-link repair 1B IAGP ClinVar Annotator: match by term: Spastic paraplegia 47, autosomal recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:113,904,619...113,914,086
Ensembl chr 1:113,905,213...113,914,086
JBrowse link
G SYT6 synaptotagmin 6 IAGP ClinVar Annotator: match by term: Spastic paraplegia 47, autosomal recessive ClinVar PMID:28492532 NCBI chr 1:114,089,292...114,153,869
Ensembl chr 1:114,089,291...114,153,880
JBrowse link
hereditary spastic paraplegia 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP5Z1 adaptor related protein complex 5 subunit zeta 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 48, autosomal recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia 48
ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20613862 PMID:24033266 More... NCBI chr 7:4,775,623...4,794,397
Ensembl chr 7:4,775,615...4,794,397
JBrowse link
G MIR4656 microRNA 4656 IAGP ClinVar Annotator: match by term: Spastic paraplegia 48, autosomal recessive ClinVar PMID:28492532 NCBI chr 7:4,788,565...4,788,639
Ensembl chr 7:4,788,565...4,788,639
JBrowse link
hereditary spastic paraplegia 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD9 ankyrin repeat domain 9 IAGP ClinVar Annotator: match by term: Spastic paraplegia 49, autosomal recessive ClinVar PMID:28492532 NCBI chr14:102,501,767...102,509,776
Ensembl chr14:102,501,767...102,509,799
JBrowse link
G TECPR2 tectonin beta-propeller repeat containing 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia 49, autosomal recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia 49
ClinVar Annotator: match by term: Autosomal recessive spastic paraplegia type 49
ClinVar
OMIM
PMID:23176824 PMID:25590979 PMID:25640679 PMID:25741868 PMID:26431026 More... NCBI chr14:102,362,941...102,502,477
Ensembl chr14:102,362,941...102,502,477
JBrowse link
hereditary spastic paraplegia 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADD3 adducin 3 IAGP ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 3 OMIM
ClinVar
PMID:23836506 PMID:25741868 PMID:28492532 PMID:29768408 NCBI chr10:109,996,373...110,135,565
Ensembl chr10:109,996,368...110,135,565
JBrowse link
G AP4M1 adaptor related protein complex 4 subunit mu 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 50, autosomal recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia 50
ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21937992 More... NCBI chr 7:100,100,794...100,109,039
Ensembl chr 7:100,101,549...100,110,345
JBrowse link
G APOA1 apolipoprotein A1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 ClinVar PMID:19559397 NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622
JBrowse link
G APOA1-AS APOA1 antisense RNA IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 ClinVar PMID:19559397 NCBI chr11:116,836,117...116,855,729
Ensembl chr11:116,836,117...116,856,018
JBrowse link
hereditary spastic paraplegia 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP4E1 adaptor related protein complex 4 subunit epsilon 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 51, autosomal recessive
ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 4
ClinVar
OMIM
PMID:20972249 PMID:21937992 PMID:23472171 PMID:25741868 PMID:28492532 More... NCBI chr15:50,907,492...51,005,895
Ensembl chr15:50,908,672...51,005,895
JBrowse link
G SPPL2A signal peptide peptidase like 2A IAGP ClinVar Annotator: match by term: Spastic paraplegia 51, autosomal recessive ClinVar PMID:20972249 NCBI chr15:50,702,266...50,765,706
Ensembl chr15:50,702,266...50,765,709
JBrowse link
hereditary spastic paraplegia 52 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP4S1 adaptor related protein complex 4 subunit sigma 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 52, autosomal recessive ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:18414213 PMID:21620353 PMID:23167973 More... NCBI chr14:31,025,106...31,096,450
Ensembl chr14:31,025,106...31,130,996
JBrowse link
hereditary spastic paraplegia 53 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VPS37A VPS37A subunit of ESCRT-I IAGP ClinVar Annotator: match by term: Spastic paraplegia 53, autosomal recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia 53
ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22717650 PMID:25741868 More... NCBI chr 8:17,246,958...17,333,455
Ensembl chr 8:17,246,931...17,302,427
JBrowse link
hereditary spastic paraplegia 54 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DDHD2 DDHD domain containing 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia 54, autosomal recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54
ClinVar
OMIM
PMID:9536098 PMID:16636240 PMID:17576681 PMID:23176823 PMID:23486545 More... NCBI chr 8:38,231,585...38,273,647
Ensembl chr 8:38,225,218...38,275,558
JBrowse link
hereditary spastic paraplegia 55 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTRFR mitochondrial translation release factor in rescue IAGP ClinVar Annotator: match by term: Spastic paraplegia 55, autosomal recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia 55
ClinVar
OMIM
PMID:3479531 PMID:20598281 PMID:23188110 PMID:24080142 PMID:24198383 More... NCBI chr12:123,232,914...123,257,960
Ensembl chr12:123,233,385...123,258,079
JBrowse link
hereditary spastic paraplegia 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP2U1 cytochrome P450 family 2 subfamily U member 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 56, autosomal recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia 56
ClinVar
OMIM
PMID:615030 PMID:23176821 PMID:25558065 PMID:25741868 PMID:26914923 More... NCBI chr 4:107,931,549...107,953,461
Ensembl chr 4:107,931,549...107,953,461
JBrowse link
G CYP2U1-AS1 CYP2U1 and SGMS2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 56, autosomal recessive ClinVar PMID:25741868 PMID:28492532 PMID:32860008 NCBI chr 4:107,863,479...107,932,119
Ensembl chr 4:107,863,473...107,989,692
JBrowse link
hereditary spastic paraplegia 57 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TFG trafficking from ER to golgi regulator IAGP ClinVar Annotator: match by term: Spastic paraplegia 57, autosomal recessive OMIM
ClinVar
PMID:22883144 PMID:23479643 PMID:23553329 PMID:23806086 PMID:24088041 More... NCBI chr 3:100,709,290...100,748,967
Ensembl chr 3:100,709,295...100,748,964
JBrowse link
hereditary spastic paraplegia 5A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A ClinVar PMID:25741868 PMID:28492532 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711
JBrowse link
G C19orf12 chromosome 19 open reading frame 12 IAGP ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE ClinVar PMID:21981780 PMID:25741868 PMID:28492532 NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789
JBrowse link
G CYP2U1 cytochrome P450 family 2 subfamily U member 1 IAGP ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE ClinVar PMID:25741868 NCBI chr 4:107,931,549...107,953,461
Ensembl chr 4:107,931,549...107,953,461
JBrowse link
G CYP2U1-AS1 CYP2U1 and SGMS2 antisense RNA 1 IAGP ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE ClinVar PMID:25741868 NCBI chr 4:107,863,479...107,932,119
Ensembl chr 4:107,863,473...107,989,692
JBrowse link
G CYP7B1 cytochrome P450 family 7 subfamily B member 1 IAGP
EXP
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:1943942 PMID:2411763 PMID:7987300 PMID:9536098 PMID:9802883 More... NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737
JBrowse link
G GBA2 glucosylceramidase beta 2 IAGP ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A
ClinVar PMID:25741868 PMID:28492532 PMID:29453417 NCBI chr 9:35,736,866...35,749,228
Ensembl chr 9:35,736,866...35,749,228
JBrowse link
G MCOLN1 mucolipin TRP cation channel 1 IAGP ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE ClinVar PMID:25741868 NCBI chr19:7,522,624...7,534,009
Ensembl chr19:7,522,624...7,534,009
JBrowse link
hereditary spastic paraplegia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYFIP1 cytoplasmic FMR1 interacting protein 1 IAGP ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT ClinVar PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 NCBI chr15:22,867,052...22,980,898
Ensembl chr15:22,867,052...22,981,063
JBrowse link
G LOC112272575 Sharpr-MPRA regulatory region 8478 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 ClinVar PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 NCBI chr15:22,873,245...22,873,539 JBrowse link
G NIPA1 NIPA magnesium transporter 1 IAGP ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT
ClinVar Annotator: match by term: Hereditary spastic paraplegia 6
ClinVar
OMIM
PMID:7825577 PMID:14508710 PMID:15643603 PMID:15711826 PMID:16267846 More... NCBI chr15:22,786,225...22,829,789
Ensembl chr15:22,773,063...22,829,789
JBrowse link
G NIPA2 NIPA magnesium transporter 2 IAGP ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT
ClinVar Annotator: match by term: Hereditary spastic paraplegia 6
ClinVar PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 NCBI chr15:22,838,666...22,868,384
Ensembl chr15:22,838,644...22,869,362
JBrowse link
G TUBGCP5 tubulin gamma complex associated protein 5 IAGP ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT ClinVar PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 NCBI chr15:22,983,025...23,039,569
Ensembl chr15:22,983,192...23,039,572
JBrowse link
hereditary spastic paraplegia 61 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARL6IP1 ADP ribosylation factor like GTPase 6 interacting protein 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 61, autosomal recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia 61
ClinVar
OMIM
PMID:28492532 NCBI chr16:18,791,667...18,801,549
Ensembl chr16:18,791,669...18,801,572
JBrowse link
hereditary spastic paraplegia 62 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERLIN1 ER lipid raft associated 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 62, autosomal recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia 62
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:24482476 PMID:25741868 PMID:28492532 NCBI chr10:100,150,094...100,186,029
Ensembl chr10:100,150,094...100,186,033
JBrowse link
hereditary spastic paraplegia 63 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMPD2 adenosine monophosphate deaminase 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia 63, autosomal recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:24482476 PMID:25741868 PMID:28492532 More... NCBI chr 1:109,619,837...109,632,055
Ensembl chr 1:109,616,104...109,632,051
JBrowse link
G GNAT2 G protein subunit alpha transducin 2 IAGP ClinVar Annotator: match by term: Spastic paraplegia 63, autosomal recessive ClinVar PMID:28492532 NCBI chr 1:109,603,091...109,619,616
Ensembl chr 1:109,603,091...109,619,929
JBrowse link
hereditary spastic paraplegia 64 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 64, autosomal recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia 64
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:24482476 PMID:25741868 PMID:28492532 More... NCBI chr10:95,694,186...95,877,266
Ensembl chr10:95,711,779...95,877,266
JBrowse link
G ENTPD1-AS1 ENTPD1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 64, autosomal recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia 64
ClinVar PMID:9536098 PMID:17576681 PMID:24482476 PMID:25741868 PMID:28492532 More... NCBI chr10:95,753,206...96,090,235
Ensembl chr10:95,732,976...96,090,250
JBrowse link
hereditary spastic paraplegia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACSF3 acyl-CoA synthetase family member 3 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr16:89,093,852...89,156,233
Ensembl chr16:89,088,375...89,164,121
JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,630...89,490,561
JBrowse link
G APRT adenine phosphoribosyltransferase IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr16:88,809,339...88,811,928
Ensembl chr16:88,809,339...88,811,937
JBrowse link
G CBFA2T3 CBFA2/RUNX1 partner transcriptional co-repressor 3 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr16:88,874,858...88,977,207
Ensembl chr16:88,874,858...88,977,207
JBrowse link
G CDH15 cadherin 15 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr16:89,171,748...89,195,492
Ensembl chr16:89,171,748...89,195,492
JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258
JBrowse link
G CTU2 cytosolic thiouridylase subunit 2 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr16:88,706,503...88,715,396
Ensembl chr16:88,706,483...88,715,396
JBrowse link
G CYBA cytochrome b-245 alpha chain IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr16:88,643,289...88,651,053
Ensembl chr16:88,643,275...88,651,083
JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr16:88,813,734...88,856,947
Ensembl chr16:88,813,734...88,856,970
JBrowse link
G LOC101927817 uncharacterized LOC101927817 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr16:89,430,918...89,454,494 JBrowse link
G MVD mevalonate diphosphate decarboxylase IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr16:88,651,940...88,663,091
Ensembl chr16:88,651,935...88,663,161
JBrowse link
G PABPN1L PABPN1 like, cytoplasmic IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr16:88,863,333...88,870,135
Ensembl chr16:88,863,333...88,866,660
JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr16:88,715,338...88,785,220
Ensembl chr16:88,715,338...88,785,220
JBrowse link
G RNF166 ring finger protein 166 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr16:88,696,501...88,706,408
Ensembl chr16:88,696,499...88,706,408
JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia Paraplegin type ClinVar PMID:25326637 PMID:28492532 NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449
JBrowse link
G SLC22A31 solute carrier family 22 member 31 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr16:89,195,761...89,201,678
Ensembl chr16:89,195,761...89,201,651
JBrowse link
G SNAI3 snail family transcriptional repressor 3 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr16:88,677,688...88,686,507
Ensembl chr16:88,677,688...88,686,507
JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin ISS OMIM:607259 MouseDO NCBI chr16:89,490,970...89,499,282
Ensembl chr16:89,490,719...89,557,768
Ensembl chr16:89,490,719...89,557,768
JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 7
ClinVar Annotator: match by term: Hereditary spastic paraplegia Paraplegin type
OMIM
ClinVar
PMID:1899786 PMID:9536098 PMID:9634528 PMID:9635427 PMID:11222789 More... NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766
JBrowse link
G TRAPPC2L trafficking protein particle complex subunit 2L IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr16:88,856,220...88,862,678
Ensembl chr16:88,856,220...88,862,686
JBrowse link
G ZNF778 zinc finger protein 778 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar PMID:28492532 NCBI chr16:89,201,970...89,237,141
Ensembl chr16:89,217,703...89,237,141
JBrowse link
hereditary spastic paraplegia 72 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G REEP2 receptor accessory protein 2 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 72
ClinVar Annotator: match by term: Spastic paraplegia 72, autosomal recessive
ClinVar Annotator: match by term: Spastic paraplegia 72, autosomal dominant
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:24388663 PMID:24482476 PMID:25741868 More... NCBI chr 5:138,439,057...138,446,965
Ensembl chr 5:138,439,057...138,446,969
JBrowse link
hereditary spastic paraplegia 73 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPT1C carnitine palmitoyltransferase 1C IAGP ClinVar Annotator: match by term: Spastic paraplegia 73, autosomal dominant
ClinVar Annotator: match by term: Hereditary spastic paraplegia 73
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:25741868 PMID:25751282 PMID:28492532 More... NCBI chr19:49,690,662...49,713,731
Ensembl chr19:49,690,898...49,713,731
JBrowse link
hereditary spastic paraplegia 74 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IBA57 iron-sulfur cluster assembly factor IBA57 IAGP ClinVar Annotator: match by term: Spastic paraplegia 74, autosomal recessive ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:25609768 PMID:25741868 PMID:28492532 More... NCBI chr 1:228,165,804...228,182,257
Ensembl chr 1:228,165,804...228,182,257
JBrowse link
hereditary spastic paraplegia 75 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAG myelin associated glycoprotein IAGP ClinVar Annotator: match by term: Spastic paraplegia 75, autosomal recessive
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:24482476 PMID:25741868 PMID:26179919 More... NCBI chr19:35,292,161...35,313,807
Ensembl chr19:35,292,125...35,313,807
JBrowse link
hereditary spastic paraplegia 76 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAPN1 calpain 1 IAGP OMIM NCBI chr11:65,181,373...65,212,006
Ensembl chr11:65,180,566...65,212,006
JBrowse link
hereditary spastic paraplegia 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AL022097.1 novel transcript, antisense to FARS2 IAGP ClinVar Annotator: match by term: Spastic paraplegia 77, autosomal recessive ClinVar PMID:25741868 PMID:25851414 NCBI chr 6:5,664,985...5,695,272
Ensembl chr 6:5,664,985...5,695,272
JBrowse link
G FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Spastic paraplegia 77, autosomal recessive ClinVar
OMIM
PMID:25741868 PMID:25851414 PMID:26553276 PMID:28492532 PMID:29126765 More... NCBI chr 6:5,249,934...5,771,583
Ensembl chr 6:5,261,044...5,829,192
JBrowse link
hereditary spastic paraplegia 78 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP13A2 ATPase cation transporting 13A2 IAGP OMIM NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928
JBrowse link
hereditary spastic paraplegia 79 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UCHL1 ubiquitin C-terminal hydrolase L1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 79, autosomal recessive
ClinVar Annotator: match by term: Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
ClinVar
OMIM
PMID:3340629 PMID:4514348 PMID:23359680 PMID:25741868 PMID:28007905 More... NCBI chr 4:41,256,928...41,268,455
Ensembl chr 4:41,256,413...41,268,455
JBrowse link
hereditary spastic paraplegia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNM1L dynamin 1 like IAGP ClinVar Annotator: match by term: Spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr 5:177,133,015...177,300,213
Ensembl chr 5:177,131,830...177,300,213
JBrowse link
G SETBP1 SET binding protein 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:25741868 PMID:28492532 NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510
JBrowse link
G TBK1 TANK binding kinase 1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr12:64,452,120...64,502,114
Ensembl chr12:64,452,090...64,502,114
JBrowse link
G WASHC5 WASH complex subunit 5 IAGP ClinVar Annotator: match by term: Spastic paraplegia 8
ClinVar Annotator: match by term: Hereditary spastic paraplegia 8
ClinVar
OMIM
PMID:9536098 PMID:17160902 PMID:17576681 PMID:20833645 PMID:23455931 More... NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819
JBrowse link
G WASHC5-AS1 WASHC5 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 8:125,040,684...125,044,989
Ensembl chr 8:125,040,684...125,044,989
JBrowse link
hereditary spastic paraplegia 80 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UBAP1 ubiquitin associated protein 1 IAGP ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT
ClinVar Annotator: match by term: Spastic paraplegia 80, autosomal dominant
ClinVar
OMIM
PMID:25741868 PMID:25741869 PMID:30929741 PMID:31203368 PMID:31515522 More... NCBI chr 9:34,179,005...34,252,523
Ensembl chr 9:34,179,005...34,252,523
JBrowse link
hereditary spastic paraplegia 81 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SELENOI selenoprotein I IAGP ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE OMIM
ClinVar
PMID:28052917 PMID:29500230 NCBI chr 2:26,346,143...26,395,885
Ensembl chr 2:26,308,547...26,395,885
JBrowse link
hereditary spastic paraplegia 82 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCYT2 phosphate cytidylyltransferase 2, ethanolamine IAGP ClinVar Annotator: match by term: Spastic paraplegia 82, autosomal recessive
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE
OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:31637422 NCBI chr17:81,900,958...81,911,399
Ensembl chr17:81,900,958...81,911,432
JBrowse link
hereditary spastic paraplegia 83 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HPDL 4-hydroxyphenylpyruvate dioxygenase like IAGP ClinVar Annotator: match by term: Spastic paraplegia 83, autosomal recessive OMIM
ClinVar
PMID:25741868 PMID:32707086 PMID:33970200 NCBI chr 1:45,326,895...45,328,710
Ensembl chr 1:45,326,895...45,328,710
JBrowse link
hereditary spastic paraplegia 84 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PI4KA phosphatidylinositol 4-kinase alpha IAGP ClinVar Annotator: match by term: Spastic paraplegia 84, autosomal recessive
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE
OMIM
ClinVar
PMID:25741868 NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417
JBrowse link
hereditary spastic paraplegia 85 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNF170 ring finger protein 170 IAGP ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE OMIM
ClinVar
PMID:25741868 PMID:31636353 NCBI chr 8:42,849,637...42,897,299
Ensembl chr 8:42,849,637...42,897,290
JBrowse link
hereditary spastic paraplegia 86 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD16A abhydrolase domain containing 16A, phospholipase IAGP ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE OMIM
ClinVar
PMID:25741868 PMID:34587489 PMID:34866177 NCBI chr 6:31,686,955...31,703,324
Ensembl chr 6:31,686,955...31,703,356
JBrowse link
hereditary spastic paraplegia 9A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP DNA:mutations:cds:p.V243L, p.R252Q(human)
ClinVar Annotator: match by term: Hereditary spastic paraplegia 9A
ClinVar Annotator: match by term: SPASTIC PARAPARESIS WITH AMYOTROPHY, CATARACTS, AND GASTROESOPHAGEAL REFLUX
ClinVar Annotator: match by term: Bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy
ClinVar
OMIM
RGD
PMID:8779323 PMID:9536098 PMID:9973297 PMID:16199547 PMID:17576681 More... RGD:11056004 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711
JBrowse link
hereditary spastic paraplegia 9B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP ClinVar Annotator: match by term: Spastic paraplegia 9b, autosomal recessive ClinVar
OMIM
PMID:25741868 PMID:26026163 PMID:26297558 PMID:28492532 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711
JBrowse link
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DARS1 aspartyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Hypomyelination with brainstem and spinal cord involvement and leg spasticity ClinVar
OMIM
PMID:23643384 PMID:25741868 PMID:28492532 NCBI chr 2:135,905,881...135,985,684
Ensembl chr 2:135,905,881...135,986,100
JBrowse link
MASA syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATN1 atrophin 1 IAGP ClinVar Annotator: match by term: X-linked hydrocephalus syndrome ClinVar PMID:25741868 NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321
JBrowse link
G L1CAM L1 cell adhesion molecule IAGP
EXP
DNA:missense mutations, deletion:cds, intron:p.H191Q, p.D598N, IVS27_3'utrdel (human)
ClinVar Annotator: match by term: MASA syndrome
ClinVar Annotator: match by term: X-linked hydrocephalus syndrome
ClinVar Annotator: match by term: L1 syndrome
ClinVar Annotator: match by term: Thumb congenital clasped with mental retardation
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 1, X-LINKED
CTD Direct Evidence: marker/mechanism
DNA:deletion:exon:
DNA:mutation:cds:924C>T(human)
ClinVar
CTD
OMIM
RGD
PMID:1303258 PMID:1870106 PMID:3460961 PMID:7562969 PMID:7881431 More... RGD:6483061, RGD:11570406, RGD:11064095 NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,514...153,886,173
JBrowse link
G L1CAM-AS1 L1CAM antisense RNA 1 IAGP ClinVar Annotator: match by term: X-linked hydrocephalus syndrome ClinVar NCBI chr  X:153,880,672...153,888,990
Ensembl chr  X:153,880,672...153,888,990
JBrowse link
G TUBB3 tubulin beta 3 class III IAGP ClinVar Annotator: match by term: X-linked hydrocephalus syndrome ClinVar PMID:25741868 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761
JBrowse link
MAST syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPG21 SPG21 abhydrolase domain containing, maspardin IAGP ClinVar Annotator: match by term: Mast syndrome ClinVar
OMIM
PMID:6024251 PMID:9536098 PMID:14564668 PMID:17576681 PMID:24451228 More... NCBI chr15:64,963,022...64,989,914
Ensembl chr15:64,963,022...64,990,310
JBrowse link
spastic ataxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TAPBPL TAP binding protein like IAGP ClinVar Annotator: match by term: Ataxia, spastic, 1, autosomal dominant ClinVar PMID:11774073 PMID:22958904 PMID:26467025 PMID:28492532 NCBI chr12:6,451,649...6,472,006
Ensembl chr12:6,451,690...6,466,517
JBrowse link
G VAMP1 vesicle associated membrane protein 1 IAGP ClinVar Annotator: match by term: Ataxia, spastic, 1, autosomal dominant OMIM
ClinVar
PMID:11774073 PMID:22958904 PMID:26467025 PMID:28492532 NCBI chr12:6,462,237...6,470,677
Ensembl chr12:6,462,237...6,470,677
JBrowse link
spastic ataxia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C17orf107 chromosome 17 open reading frame 107 IAGP ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:4,899,536...4,906,715
Ensembl chr17:4,899,418...4,902,934
JBrowse link
G CAMTA2 calmodulin binding transcription activator 2 IAGP ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:4,967,997...4,987,675
Ensembl chr17:4,967,992...4,987,675
JBrowse link
G CHRNE cholinergic receptor nicotinic epsilon subunit IAGP ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:4,897,771...4,908,677
Ensembl chr17:4,897,771...4,934,438
JBrowse link
G ENO3 enolase 3 IAGP ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:4,948,710...4,957,129
Ensembl chr17:4,948,092...4,957,131
JBrowse link
G GP1BA glycoprotein Ib platelet subunit alpha IAGP ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023
JBrowse link
G INCA1 inhibitor of CDK, cyclin A1 interacting protein 1 IAGP ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:4,988,130...4,997,522
Ensembl chr17:4,988,130...4,997,610
JBrowse link
G KIF1C kinesin family member 1C IAGP ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive
ClinVar Annotator: match by term: Spastic ataxia 2
ClinVar
OMIM
PMID:9536098 PMID:17273843 PMID:17576681 PMID:24088041 PMID:24319291 More... NCBI chr17:4,997,950...5,028,401
Ensembl chr17:4,997,950...5,028,401
JBrowse link
G PFN1 profilin 1 IAGP ClinVar Annotator: match by term: Ataxia, spastic, 2, autosomal recessive ClinVar PMID:28492532 NCBI chr17:4,945,652...4,948,530
Ensembl chr17:4,945,652...4,949,061
JBrowse link