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G |
Abcd1 |
ATP binding cassette subfamily D member 1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23184456 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,428,334...151,450,115
Ensembl chr X:151,428,578...151,450,115
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G |
Abhd16a |
abhydrolase domain containing 16A, phospholipase |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:25741868 PMID:34587489 |
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NCBI chr20:3,719,089...3,733,952
Ensembl chr20:3,719,091...3,733,927
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G |
Adam9 |
ADAM metallopeptidase domain 9 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
|
NCBI chr16:67,022,538...67,101,647
Ensembl chr16:67,022,655...67,100,917
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G |
Adgra2 |
adhesion G protein-coupled receptor A2 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr16:64,932,964...64,971,433
Ensembl chr16:64,933,315...64,971,483
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G |
Adrb3 |
adrenoceptor beta 3 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
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G |
Agap2 |
ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:62,897,282...62,914,295
Ensembl chr 7:62,897,282...62,914,295
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G |
Akt1 |
AKT serine/threonine kinase 1 |
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IEP |
mRNA:decreased expression:soleus |
RGD |
PMID:18236467 |
RGD:5509082 |
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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G |
Ap4b1 |
adaptor related protein complex 4 subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21440262 PMID:21620353 PMID:22290197 PMID:24700674 PMID:24781758 PMID:25693842 PMID:25741868 PMID:26539891 PMID:26795593 PMID:27625858 PMID:28492532 PMID:29193663 PMID:31915823 PMID:32979048 PMID:33594065 More...
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NCBI chr 2:191,318,485...191,330,531
Ensembl chr 2:191,318,482...191,330,531
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G |
Ap4e1 |
adaptor related protein complex 4 subunit epsilon 1 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21620353 PMID:21937992 PMID:23472171 PMID:25167861 PMID:25741868 PMID:26350204 PMID:26544806 PMID:28492532 PMID:30237576 PMID:30732576 PMID:31688942 PMID:32979048 More...
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NCBI chr 3:114,272,997...114,339,484
Ensembl chr 3:114,272,956...114,336,752
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G |
Ap4m1 |
adaptor related protein complex 4 subunit mu 1 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:21937992 PMID:24700674 PMID:25326635 PMID:25496299 PMID:25558065 PMID:25741868 PMID:26077850 PMID:28464862 PMID:28492532 PMID:29096665 PMID:29302074 PMID:31359954 PMID:31915823 PMID:32979048 PMID:32989326 PMID:36371792 More...
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NCBI chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026
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G |
Ap4s1 |
adaptor related protein complex 4 subunit sigma 1 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21620353 PMID:23167973 PMID:24700674 PMID:25552650 PMID:25741868 PMID:26297806 PMID:26350204 PMID:26633542 PMID:27444738 PMID:28492532 PMID:28708303 PMID:30283821 PMID:31660686 PMID:31915823 PMID:32979048 More...
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NCBI chr 6:69,133,403...69,174,488
Ensembl chr 6:69,133,373...69,175,496
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G |
Ap5z1 |
adaptor related protein complex 5 subunit zeta 1 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr12:12,093,834...12,109,043
Ensembl chr12:12,093,834...12,108,511
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G |
Apof |
apolipoprotein F |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:700,688...702,130
Ensembl chr 7:700,762...701,946
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G |
Aqp3 |
aquaporin 3 (Gill blood group) |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:56,239,200...56,244,718
Ensembl chr 5:56,239,201...56,244,720
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G |
Arf1 |
ADP-ribosylation factor 1 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:18094336 PMID:23462291 PMID:25971455 PMID:27785568 PMID:28492532 PMID:28671726 More...
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NCBI chr10:43,997,983...44,014,461
Ensembl chr10:43,997,986...44,014,434
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G |
Arhgap4 |
Rho GTPase activating protein 4 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23184456 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,636,071...151,651,528
Ensembl chr X:151,632,454...151,651,128
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G |
Arhgap5 |
Rho GTPase activating protein 5 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:21620353 PMID:25552650 PMID:27444738 PMID:28492532 |
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NCBI chr 6:69,975,904...70,039,299
Ensembl chr 6:69,976,214...70,037,660
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G |
Arhgap9 |
Rho GTPase activating protein 9 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,148,573...63,157,025
Ensembl chr 7:63,148,900...63,157,524
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G |
Arhgef25 |
Rho guanine nucleotide exchange factor 25 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,005,938...63,013,325
Ensembl chr 7:63,005,940...63,013,719
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G |
Arhgef39 |
Rho guanine nucleotide exchange factor 39 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:57,752,509...57,756,079
Ensembl chr 5:57,752,509...57,756,109
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G |
Arid3c |
AT-rich interaction domain 3C |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:56,889,649...56,896,959
Ensembl chr 5:56,890,042...56,895,888
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G |
Arpp19 |
cAMP-regulated phosphoprotein 19 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 PMID:30732576 PMID:31688942 More...
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NCBI chr 8:75,779,640...75,802,474
Ensembl chr 8:75,779,523...75,802,452 Ensembl chr 8:75,779,523...75,802,452
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G |
Arsi |
arylsulfatase family, member I |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28832565 |
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NCBI chr18:54,364,160...54,371,772
Ensembl chr18:54,364,088...54,371,767
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G |
Ash2l |
ASH2 like histone lysine methyltransferase complex subunit |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr16:66,242,205...66,264,064
Ensembl chr16:66,242,212...66,264,061
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G |
Atg7 |
autophagy related 7 |
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IEP |
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RGD |
PMID:23055316 |
RGD:11557990 |
NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593
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G |
Atl1 |
atlastin GTPase 1 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:8252041 PMID:11685207 PMID:14607301 PMID:15517445 PMID:16537571 PMID:16612642 PMID:17321752 PMID:19459885 PMID:19652243 PMID:20718791 PMID:20816793 PMID:20862796 PMID:20932283 PMID:20947813 PMID:23079343 PMID:23233086 PMID:24482476 PMID:25637064 PMID:25741868 PMID:25761634 PMID:26467025 PMID:27993330 PMID:28492532 PMID:32581362 More...
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NCBI chr 6:88,377,168...88,475,242
Ensembl chr 6:88,377,239...88,475,204
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G |
Atosa |
atos homolog A |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 PMID:30732576 PMID:31688942 More...
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NCBI chr 8:75,694,828...75,772,565
Ensembl chr 8:75,695,022...75,772,549
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G |
Atosb |
atos homolog B |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:57,260,839...57,274,524
Ensembl chr 5:57,260,841...57,268,892
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G |
Atp2b3 |
ATPase plasma membrane Ca2+ transporting 3 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,216,483...151,289,069
Ensembl chr X:151,216,507...151,286,775
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G |
Atp5f1b |
ATP synthase F1 subunit beta |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:515,454...521,858
Ensembl chr 7:515,460...567,273
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G |
Atp6ap1 |
ATPase H+ transporting accessory protein 1 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:152,079,954...152,087,034
Ensembl chr X:152,079,865...152,087,034
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G |
Avpr2 |
arginine vasopressin receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23184456 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,633,501...151,636,155
Ensembl chr X:151,633,522...151,635,989
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G |
B4galnt1 |
beta-1,4-N-acetyl-galactosaminyl transferase 1 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23746551 PMID:24103911 PMID:24283893 PMID:25741868 PMID:28492532 PMID:28709807 PMID:29983310 PMID:30521973 PMID:31812852 PMID:32214227 More...
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NCBI chr 7:62,988,429...62,996,190
Ensembl chr 7:62,988,930...62,996,190
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G |
Bag4 |
BAG cochaperone 4 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr16:66,288,678...66,305,893
Ensembl chr16:66,288,678...66,308,663
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G |
Baz2a |
bromodomain adjacent to zinc finger domain, 2A |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:523,204...560,911
Ensembl chr 7:523,265...560,659
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G |
Bcap31 |
B-cell receptor-associated protein 31 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23184456 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,397,567...151,429,666
Ensembl chr X:151,397,576...151,428,506
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G |
Bcar1 |
BCAR1 scaffold protein, Cas family member |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr19:39,679,215...39,713,907
Ensembl chr19:39,679,204...39,713,907
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G |
Bcl2l10 |
Bcl2-like 10 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 PMID:30732576 PMID:31688942 More...
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NCBI chr 8:76,107,326...76,113,373
Ensembl chr 8:76,107,326...76,113,367
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G |
Becn1 |
beclin 1 |
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IEP |
protein:increased expression:soleus muscle |
RGD |
PMID:23055316 |
RGD:11557990 |
NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
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G |
Bgn |
biglycan |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,197,296...151,209,458
Ensembl chr X:151,197,273...151,209,461
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G |
Bicd2 |
BICD cargo adaptor 2 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:25741868 PMID:26998597 PMID:28492532 |
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NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889
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G |
Birc6 |
baculoviral IAP repeat-containing 6 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
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NCBI chr 6:20,722,922...20,916,396
Ensembl chr 6:20,722,922...20,916,434
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G |
Brcc3 |
BRCA1/BRCA2-containing complex subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr 9:1,986,942...1,989,484
Ensembl chr 9:1,986,575...1,991,080
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G |
Brf2 |
BRF2, RNA polymerase III transcription initiation factor subunit |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr16:64,928,334...64,933,057
Ensembl chr16:64,928,300...64,933,059
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G |
C10h1orf35 |
similar to human chromosome 1 open reading frame 35 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:18094336 PMID:23462291 PMID:25971455 PMID:27785568 PMID:28492532 PMID:28671726 More...
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NCBI chr10:43,993,809...43,997,287
Ensembl chr10:43,993,668...43,997,289
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G |
Car9 |
carbonic anhydrase 9 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838
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G |
Ccdc107 |
coiled-coil domain containing 107 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918
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G |
Ccin |
calicin |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chr 5:58,206,676...58,208,563
Ensembl chr 5:58,206,633...58,208,951
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G |
Ccl19 |
C-C motif chemokine ligand 19 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
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G |
Ccl21 |
C-C motif chemokine ligand 21 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686
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G |
Ccl27 |
C-C motif chemokine ligand 27 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506
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G |
Ccnq |
cyclin Q |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961
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G |
Cd72 |
Cd72 molecule |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:57,697,361...57,704,980
Ensembl chr 5:57,697,367...57,704,725
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G |
Cdk4 |
cyclin-dependent kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403
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G |
Cfdp1 |
craniofacial development protein 1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr19:39,718,313...39,823,824
Ensembl chr19:39,718,347...39,823,824
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G |
Cimip2b |
ciliary microtubule inner protein 2B |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:57,675,537...57,680,133
Ensembl chr 5:57,675,462...57,678,611
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G |
Clic2 |
chloride intracellular channel 2 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr20:149,337...164,375
Ensembl chr20:148,907...164,355
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G |
Clta |
clathrin, light chain A |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:58,244,253...58,263,480
Ensembl chr 5:58,245,442...58,263,472
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G |
Cmc4 |
C-X9-C motif containing 4 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr18:125,308...132,163
Ensembl chr18:125,227...132,160
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G |
Cntfr |
ciliary neurotrophic factor receptor |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:56,823,448...56,861,049
Ensembl chr 5:56,823,965...56,841,392
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G |
Coch |
cochlin |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:21620353 PMID:25552650 PMID:27444738 PMID:28492532 |
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NCBI chr 6:69,031,139...69,045,124
Ensembl chr 6:69,031,167...69,045,109
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G |
Cpt1c |
carnitine palmitoyltransferase 1c |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:25741868 |
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NCBI chr 1:95,442,814...95,457,347
Ensembl chr 1:95,442,817...95,457,342
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G |
Creb3 |
cAMP responsive element binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:57,817,865...57,823,233
Ensembl chr 5:57,817,832...57,824,390
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G |
Ctag2 |
cancer/testis antigen 2 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:143,531,907...143,533,201
Ensembl chr X:143,531,907...143,533,201
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G |
Ctrb1 |
chymotrypsinogen B1 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr19:39,652,931...39,657,689
Ensembl chr19:39,652,933...39,657,688
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G |
Cyp19a1 |
cytochrome P450, family 19, subfamily a, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 PMID:30732576 PMID:31688942 More...
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NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758
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G |
Cyp27b1 |
cytochrome P450, family 27, subfamily b, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
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G |
Cyp2u1 |
cytochrome P450, family 2, subfamily u, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:615030 PMID:14660610 PMID:16199547 PMID:23176821 PMID:25558065 PMID:25741868 PMID:26914923 PMID:26936192 PMID:27292318 PMID:28492532 PMID:28600779 PMID:29034544 PMID:33107650 PMID:36166872 More...
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NCBI chr 2:219,849,403...219,866,959
Ensembl chr 2:219,849,407...219,866,882
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G |
Cyp7b1 |
cytochrome P450 family 7 subfamily B member 1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:1943942 PMID:7987300 PMID:9536098 PMID:9802883 PMID:12874406 PMID:15007371 PMID:16199547 PMID:17503452 PMID:17576681 PMID:18252231 PMID:18367963 PMID:18855023 PMID:19187859 PMID:19363635 PMID:19439320 PMID:19439420 PMID:19812052 PMID:21214876 PMID:21452256 PMID:21541746 PMID:21567895 PMID:21623769 PMID:21966169 PMID:22384504 PMID:22652365 PMID:23812641 PMID:24033266 PMID:24117163 PMID:24340040 PMID:24482476 PMID:24519355 PMID:24641183 PMID:24658845 PMID:24927729 PMID:25324891 PMID:25326635 PMID:25326637 PMID:25525159 PMID:25741868 PMID:26370385 PMID:26374131 PMID:26467025 PMID:26714052 PMID:27077743 PMID:27217339 PMID:27260292 PMID:27879216 PMID:27879220 PMID:27957547 PMID:28039895 PMID:28492532 PMID:28832565 PMID:29126212 PMID:29228183 PMID:29246610 PMID:29482223 PMID:29980238 PMID:30546280 PMID:31227335 PMID:31407473 PMID:31589614 PMID:31980526 PMID:32202070 PMID:33160247 PMID:34426522 PMID:34782662 PMID:35464835 PMID:35578252 PMID:37712079 More...
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NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698
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G |
Dcaf12 |
DDB1 and CUL4 associated factor 12 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:56,460,418...56,482,171
Ensembl chr 5:56,461,006...56,482,456
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G |
Dctn2 |
dynactin subunit 2 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,092,061...63,107,560
Ensembl chr 7:63,092,057...63,108,543
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G |
Dctn3 |
dynactin subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:56,881,085...56,889,041
Ensembl chr 5:56,881,085...56,889,102
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G |
Ddhd2 |
DDHD domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr16:66,319,469...66,349,025
Ensembl chr16:66,319,466...66,349,023
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G |
Ddit3 |
DNA-damage inducible transcript 3 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201
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G |
Dkc1 |
dyskerin pseudouridine synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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G |
Dmxl2 |
Dmx-like 2 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 PMID:30732576 PMID:31688942 More...
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NCBI chr 8:54,741,164...54,884,948
Ensembl chr 8:54,741,160...54,885,161
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G |
Dnai1 |
dynein, axonemal, intermediate chain 1 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925
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G |
Dnajb5 |
DnaJ heat shock protein family (Hsp40) member B5 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chr 5:57,176,840...57,186,067
Ensembl chr 5:57,176,845...57,185,490
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G |
Dnase1l1 |
deoxyribonuclease 1-like 1 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:152,056,942...152,065,518
Ensembl chr X:152,056,942...152,065,518
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G |
Dpy30 |
dpy-30 histone methyltransferase complex regulatory subunit |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
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NCBI chr 6:21,120,947...21,141,720
Ensembl chr 6:21,120,947...21,141,432
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G |
Dtd2 |
D-aminoacyl-tRNA deacylase 2 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:21620353 PMID:25552650 PMID:27444738 PMID:28492532 |
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NCBI chr 6:69,450,146...69,456,430
Ensembl chr 6:69,449,614...69,456,427
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G |
Dtx3 |
deltex E3 ubiquitin ligase 3 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,013,769...63,018,431
Ensembl chr 7:63,013,371...63,018,522
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G |
Dusp9 |
dual specificity phosphatase 9 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,351,897...151,355,822
Ensembl chr X:151,351,897...151,355,821
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G |
Eef1akmt3 |
EEF1A lysine methyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:62,853,304...62,864,558
Ensembl chr 7:62,854,899...62,864,617
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G |
Egr2 |
early growth response 2 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
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NCBI chr20:21,051,270...21,056,322
Ensembl chr20:21,051,277...21,055,562
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G |
Eif4ebp1 |
eukaryotic translation initiation factor 4E binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr16:64,792,595...64,805,984
Ensembl chr16:64,790,226...64,805,984
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G |
Emd |
emerin |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:152,038,990...152,042,190
Ensembl chr X:152,038,998...152,045,807
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G |
Enho |
energy homeostasis associated |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:56,800,980...56,802,777
Ensembl chr 5:56,800,980...56,802,777
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G |
Erlin2 |
ER lipid raft associated 2 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21330303 PMID:23109145 PMID:24482476 PMID:25741868 PMID:27824013 PMID:28492532 PMID:28832565 PMID:30564185 PMID:32094424 PMID:32147972 More...
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NCBI chr16:65,017,654...65,034,184
Ensembl chr16:65,018,532...65,033,671
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G |
F8 |
coagulation factor VIII |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
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G |
F8a1 |
coagulation factor VIII-associated 1 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:150,957,357...150,958,871
Ensembl chr X:150,916,679...150,960,168
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G |
Fa2h |
fatty acid 2-hydroxylase |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20104589 PMID:20853438 PMID:22965561 PMID:23745665 PMID:24033266 PMID:24299421 PMID:24833714 PMID:25496456 PMID:25732363 PMID:25741868 PMID:26344562 PMID:26467025 PMID:27165006 PMID:27217339 PMID:27316240 PMID:27854218 PMID:27957547 PMID:28017243 PMID:28492532 PMID:29423566 PMID:29980238 PMID:30713878 PMID:31130284 PMID:31135052 PMID:31227335 PMID:31407473 PMID:31429931 PMID:31628766 PMID:32624042 PMID:32907636 PMID:33059505 PMID:33083013 PMID:33144682 PMID:33246395 PMID:34445196 PMID:34852264 PMID:34983064 PMID:35578252 PMID:35872528 More...
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NCBI chr19:39,312,904...39,364,153
Ensembl chr19:39,312,906...39,364,153
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G |
Fam219a |
family with sequence similarity 219, member A |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:56,679,272...56,729,959
Ensembl chr 5:56,680,613...56,729,924
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G |
Fam221b |
family with sequence similarity 221, member B |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chr 5:57,910,346...57,919,562
Ensembl chr 5:57,910,352...57,919,367
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G |
Fam3a |
FAM3 metabolism regulating signaling molecule A |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:152,166,716...152,175,327
Ensembl chr X:152,165,535...152,175,362
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G |
Fam50a |
family with sequence similarity 50, member A |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:152,095,245...152,102,362
Ensembl chr X:152,095,245...152,102,362
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G |
Fancg |
FA complementation group G |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
|
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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G |
Flna |
filamin A |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:152,007,758...152,034,266
Ensembl chr X:152,007,758...152,031,052
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G |
Foxo4 |
forkhead box O4 |
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IEP |
protein:increased expression:skeletal muscle: |
RGD |
PMID:18236467 |
RGD:5509082 |
NCBI chr X:66,385,241...66,392,115
Ensembl chr X:66,385,558...66,392,115
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G |
Fundc2 |
FUN14 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr18:128,473...138,232
Ensembl chr18:132,248...138,345
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G |
G2e3 |
G2/M-phase specific E3 ubiquitin protein ligase |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:21620353 PMID:25552650 PMID:27444738 PMID:28492532 |
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NCBI chr 6:68,763,847...68,795,305
Ensembl chr 6:68,764,185...68,793,924
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G |
G6pd |
glucose-6-phosphate dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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G |
Galt |
galactose-1-phosphate uridylyltransferase |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265
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G |
Gba2 |
glucosylceramidase beta 2 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23332916 PMID:23332917 PMID:25741868 PMID:26220345 PMID:28052128 PMID:28492532 PMID:29453417 PMID:29980238 PMID:32590105 PMID:33397523 PMID:34251556 PMID:34782662 More...
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NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072
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G |
Gdi1 |
GDP dissociation inhibitor 1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:152,087,611...152,094,274
Ensembl chr X:152,087,444...152,094,272
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G |
Gjc2 |
gap junction protein, gamma 2 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:8733901 PMID:9536098 PMID:15192806 PMID:17576681 PMID:18094336 PMID:20442743 PMID:20513814 PMID:20695017 PMID:21246605 PMID:21959080 PMID:22351697 PMID:22833003 PMID:23142375 PMID:23143715 PMID:23462291 PMID:23544880 PMID:24374284 PMID:25059390 PMID:25741868 PMID:25971455 PMID:26467025 PMID:27057822 PMID:27780564 PMID:27785568 PMID:27860360 PMID:28492532 PMID:28671726 PMID:29141312 PMID:29276893 PMID:29451896 PMID:29906362 PMID:31028937 PMID:31270756 PMID:31319225 PMID:31912665 PMID:33190326 PMID:34055681 PMID:34445196 PMID:35807022 More...
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NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467
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G |
Gldn |
gliomedin |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 PMID:30732576 PMID:31688942 More...
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NCBI chr 8:54,679,015...54,723,198
Ensembl chr 8:54,679,119...54,723,196
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G |
Glg1 |
golgi glycoprotein 1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr19:39,124,892...39,224,178
Ensembl chr19:39,124,641...39,224,178
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G |
Gli1 |
GLI family zinc finger 1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251
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G |
Glipr2 |
GLI pathogenesis-related 2 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:58,170,417...58,202,258
Ensembl chr 5:58,170,425...58,202,272
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G |
Gls2 |
glutaminase 2 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:617,252...633,424
Ensembl chr 7:617,288...633,426
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G |
Gnb5 |
G protein subunit beta 5 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 PMID:30732576 PMID:31688942 More...
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NCBI chr 8:76,076,120...76,105,069
Ensembl chr 8:76,073,306...76,105,069
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G |
Gne |
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499
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G |
Got1l1 |
glutamic-oxaloacetic transaminase 1-like 1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr16:64,860,308...64,873,656
Ensembl chr16:64,860,704...64,866,162
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G |
Gpr182 |
G protein-coupled receptor 182 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,585,997...63,589,088
Ensembl chr 7:63,578,750...63,589,210
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G |
Gpr33-ps1 |
G protein-coupled receptor 33, pseudogene 1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:21620353 PMID:25552650 PMID:27444738 PMID:28492532 |
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NCBI chr 6:69,474,435...69,475,440
Ensembl chr 6:69,474,435...69,475,440
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G |
Grhpr |
glyoxylate and hydroxypyruvate reductase |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:59,234,179...59,243,614
Ensembl chr 5:59,234,192...59,243,603
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G |
Guk1 |
guanylate kinase 1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:18094336 PMID:23462291 PMID:25971455 PMID:27785568 PMID:28492532 PMID:28671726 More...
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NCBI chr10:43,971,514...43,988,658
Ensembl chr10:43,971,509...43,980,107
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G |
H2ab3 |
H2A.B variant histone 3 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:82,362,531...82,363,105
Ensembl chr X:82,362,633...82,362,983
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G |
Haus7 |
HAUS augmin-like complex, subunit 7 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,154,979...151,174,441
Ensembl chr X:151,154,979...151,180,577
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G |
Hcfc1 |
host cell factor C1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23184456 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,687,779...151,712,688
Ensembl chr X:151,687,779...151,712,638
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G |
Heatr5a |
HEAT repeat containing 5A |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:21620353 PMID:25552650 PMID:27444738 PMID:28492532 |
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NCBI chr 6:69,321,869...69,419,861
Ensembl chr 6:69,321,869...69,419,773
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G |
Hectd1 |
HECT domain E3 ubiquitin protein ligase 1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:21620353 PMID:25552650 PMID:27444738 PMID:28492532 |
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NCBI chr 6:69,181,429...69,268,045
Ensembl chr 6:69,181,436...69,268,053
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G |
Hint2 |
histidine triad nucleotide binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:57,904,613...57,906,868
Ensembl chr 5:57,904,614...57,907,097
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G |
Hpdl |
4-hydroxyphenylpyruvate dioxygenase-like |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:25741868 PMID:32165824 PMID:32707086 PMID:33188300 PMID:33970200 PMID:35985664 More...
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NCBI chr 5:130,286,627...130,288,233
Ensembl chr 5:130,286,631...130,288,233
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G |
Hrct1 |
histidine rich carboxyl terminus 1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:57,982,344...57,983,186
Ensembl chr 5:57,982,470...57,982,790
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G |
Hsd17b10 |
hydroxysteroid (17-beta) dehydrogenase 10 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr X:21,089,142...21,091,603
Ensembl chr X:21,089,122...21,109,488
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G |
Hsd17b6 |
hydroxysteroid (17-beta) dehydrogenase 6 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:422,466...442,008
Ensembl chr 7:422,480...442,425
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G |
Hspd1 |
heat shock protein family D (Hsp60) member 1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9536098 PMID:17072495 PMID:17420924 PMID:17576681 PMID:18414213 PMID:22552817 PMID:24033266 PMID:25326637 PMID:25741868 PMID:26467025 PMID:27630992 PMID:28492532 PMID:28832565 More...
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NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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G |
Htra4 |
HtrA serine peptidase 4 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr16:67,001,605...67,015,074
Ensembl chr16:67,001,605...67,015,074
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G |
Iba57 |
iron-sulfur cluster assembly factor IBA57 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:18094336 PMID:23462291 PMID:25971455 PMID:27785568 PMID:28492532 PMID:28671726 More...
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NCBI chr10:43,942,017...43,950,807
Ensembl chr10:43,942,017...43,950,807
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G |
Idh3g |
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23184456 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,515,244...151,524,175
Ensembl chr X:151,515,247...151,524,171
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G |
Ikbkg |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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G |
Il11ra1 |
interleukin 11 receptor subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408
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G |
Il23a |
interleukin 23 subunit alpha |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:721,809...723,923
Ensembl chr 7:721,809...723,923
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G |
Inhbc |
inhibin subunit beta C |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,184,141...63,197,630
Ensembl chr 7:63,184,142...63,197,630
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G |
Inhbe |
inhibin subunit beta E |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,176,221...63,179,209
Ensembl chr 7:63,176,219...63,179,172
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G |
Iqsec2 |
IQ motif and Sec7 domain ArfGEF 2 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr X:21,254,799...21,337,179
Ensembl chr X:21,254,914...21,336,584
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G |
Irak1 |
interleukin-1 receptor-associated kinase 1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23184456 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
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G |
Irf2bpl |
interferon regulatory factor 2 binding protein-like |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:25741868 |
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NCBI chr 6:106,527,179...106,531,294
Ensembl chr 6:106,528,053...106,530,401
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G |
Kdm5c |
lysine demethylase 5C |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9536098 PMID:15586325 PMID:16199547 PMID:16541399 PMID:17576681 PMID:18414213 PMID:18697827 PMID:22326837 PMID:23356856 PMID:23757202 PMID:24583395 PMID:24728327 PMID:25644381 PMID:25666439 PMID:25741868 PMID:25801821 PMID:26467025 PMID:26863999 PMID:26934580 PMID:27799067 PMID:28492532 PMID:29304373 PMID:29670509 PMID:32279304 PMID:34356104 PMID:38177409 More...
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NCBI chr X:21,345,459...21,387,045
Ensembl chr X:21,345,481...21,381,870
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G |
Kif1a |
kinesin family member 1A |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9536098 PMID:17576681 PMID:24088041 PMID:25265257 PMID:25326635 PMID:25741868 PMID:26125038 PMID:26354034 PMID:26467025 PMID:26633545 PMID:28492532 PMID:28554332 PMID:28834584 PMID:32935419 PMID:33880452 More...
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NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480
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G |
Kif24 |
kinesin family member 24 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:56,561,019...56,628,040
Ensembl chr 5:56,561,154...56,628,025
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G |
Kif5a |
kinesin family member 5A |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9536098 PMID:15452312 PMID:16199547 PMID:16476820 PMID:16489470 PMID:17576681 PMID:18203753 PMID:18500496 PMID:18853458 PMID:21623771 PMID:22552817 PMID:22714410 PMID:23265383 PMID:24123792 PMID:24731568 PMID:25008398 PMID:25352184 PMID:25640679 PMID:25695920 PMID:25741868 PMID:26374131 PMID:26403765 PMID:26467025 PMID:26543653 PMID:27084214 PMID:27414745 PMID:28362824 PMID:28492532 PMID:28678816 PMID:28708278 PMID:28832565 PMID:29342275 PMID:29566793 PMID:29892902 PMID:29908077 PMID:29954873 PMID:30057544 PMID:30581417 PMID:30778698 PMID:31211173 PMID:31403080 PMID:31422367 PMID:31475037 PMID:31612903 PMID:32501971 PMID:32579787 PMID:32815063 PMID:32888732 PMID:33059505 PMID:33155544 PMID:33208543 PMID:33310205 PMID:33589474 PMID:33829936 PMID:34715294 PMID:35578252 PMID:35896380 PMID:36139378 PMID:37524782 More...
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NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858
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G |
L1cam |
L1 cell adhesion molecule |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:7562969 PMID:7762552 PMID:7920659 PMID:8062435 PMID:8069317 PMID:8401576 PMID:8826452 PMID:8929944 PMID:9195224 PMID:9268105 PMID:9300653 PMID:9384614 PMID:9452098 PMID:9521424 PMID:9536098 PMID:9610803 PMID:9744477 PMID:10469653 PMID:10480214 PMID:10632110 PMID:10767310 PMID:10797421 PMID:10908608 PMID:11379875 PMID:11438988 PMID:11748843 PMID:11772994 PMID:11857550 PMID:11968085 PMID:12442287 PMID:12514225 PMID:12725590 PMID:13889294 PMID:15108295 PMID:15148591 PMID:15555929 PMID:15904436 PMID:16199547 PMID:16427346 PMID:16601897 PMID:16650080 PMID:16684786 PMID:16760466 PMID:16816908 PMID:17328266 PMID:17576681 PMID:18136715 PMID:18177777 PMID:18414213 PMID:18627054 PMID:19396829 PMID:19617634 PMID:19641926 PMID:19846429 PMID:19953645 PMID:20447653 PMID:20621658 PMID:20730588 PMID:21688291 PMID:22222883 PMID:22281021 PMID:22344793 PMID:22382802 PMID:22973895 PMID:23184456 PMID:23409742 PMID:23660394 PMID:23820807 PMID:24155914 PMID:24365856 PMID:24962355 PMID:25666757 PMID:25741868 PMID:25948108 PMID:26467025 PMID:26471271 PMID:26891472 PMID:28492532 PMID:28781826 PMID:29334594 PMID:29706646 PMID:29960101 PMID:30365056 PMID:30487145 PMID:30712878 PMID:31474318 PMID:31504653 PMID:32416898 PMID:33196764 PMID:34510796 PMID:35384376 More...
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NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
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G |
Lage3 |
L antigen family, member 3 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:152,138,209...152,139,632
Ensembl chr X:152,138,218...152,139,632
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G |
Ldhd |
lactate dehydrogenase D |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr19:39,583,529...39,588,397
Ensembl chr19:39,573,621...39,595,575
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G |
Leo1 |
LEO1 homolog, Paf1/RNA polymerase II complex component |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 PMID:30732576 PMID:31688942 More...
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NCBI chr 8:76,199,547...76,223,983
Ensembl chr 8:76,199,099...76,223,983
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G |
Letm2 |
leucine zipper and EF-hand containing transmembrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr16:66,464,958...66,489,640
Ensembl chr16:66,469,111...66,489,704
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G |
Lrp1 |
LDL receptor related protein 1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910
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G |
Lsm1 |
LSM1 homolog, mRNA degradation associated |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr16:66,277,345...66,288,852
Ensembl chr16:66,277,345...66,288,852
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G |
Lysmd2 |
LysM domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 PMID:30732576 PMID:31688942 More...
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NCBI chr 8:76,378,984...76,394,396
Ensembl chr 8:76,379,219...76,394,654
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G |
Mapk6 |
mitogen-activated protein kinase 6 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 PMID:30732576 PMID:31688942 More...
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NCBI chr 8:76,146,650...76,169,767
Ensembl chr 8:76,146,690...76,169,720
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G |
Marchf9 |
membrane associated ring-CH-type finger 9 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:62,879,017...62,882,495
Ensembl chr 7:62,879,018...62,882,495
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G |
Mars1 |
methionyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,121,142...63,138,550
Ensembl chr 7:63,121,142...63,138,495
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G |
Mbd6 |
methyl-CpG binding domain protein 6 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,107,562...63,115,841
Ensembl chr 7:63,107,562...63,113,274
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G |
Mecp2 |
methyl CpG binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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G |
Melk |
maternal embryonic leucine zipper kinase |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:58,540,393...58,600,562
Ensembl chr 5:58,540,449...58,600,937
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G |
Mettl1 |
methyltransferase 1, tRNA methylguanosine |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:62,864,860...62,869,202
Ensembl chr 7:62,864,853...62,869,202
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G |
Mip |
major intrinsic protein of lens fiber |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:643,502...653,121
Ensembl chr 7:647,315...654,400
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G |
Mipep |
mitochondrial intermediate peptidase |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr15:34,926,198...35,051,722
Ensembl chr15:34,926,207...35,051,727
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G |
Mlkl |
mixed lineage kinase domain like pseudokinase |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr19:39,277,526...39,304,555
Ensembl chr19:39,276,785...39,304,502
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G |
Mpp1 |
MAGUK p55 scaffold protein 1 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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G |
Mrpl55 |
mitochondrial ribosomal protein L55 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:18094336 PMID:23462291 PMID:25971455 PMID:27785568 PMID:28492532 PMID:28671726 More...
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NCBI chr10:43,988,676...43,991,841
Ensembl chr10:43,988,683...43,991,841
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G |
Msmp |
microseminoprotein, prostate associated |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:57,838,935...57,839,985
Ensembl chr 5:57,838,935...57,839,985
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G |
Mtcp1 |
mature T-cell proliferation 1 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr18:126,189...130,123
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G |
Mtm1 |
myotubularin 1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9285787 PMID:9305655 PMID:10790201 PMID:11793470 PMID:12646134 PMID:17973976 PMID:18414213 PMID:21135508 PMID:22520358 PMID:23071445 PMID:23917616 PMID:25741868 PMID:26338224 PMID:28492532 PMID:28685322 PMID:32805447 More...
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NCBI chr 6:488,923...506,882
Ensembl chr 6:488,969...506,860
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G |
Mtrfr |
mitochondrial translation release factor in rescue |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:20598281 PMID:23188110 PMID:24033266 PMID:24284555 PMID:24424123 PMID:25058219 PMID:25741868 PMID:26380172 PMID:27858754 PMID:28091420 PMID:28251916 PMID:28492532 PMID:30369941 PMID:31694722 PMID:31753091 PMID:34732400 More...
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NCBI chr12:32,261,569...32,275,258
Ensembl chr12:32,258,435...32,275,258
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G |
Myo1a |
myosin IA |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,542,988...63,557,944
Ensembl chr 7:63,542,988...63,557,944
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G |
Myo5a |
myosin VA |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 PMID:30732576 PMID:31688942 More...
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NCBI chr 8:75,811,985...75,980,049
Ensembl chr 8:75,812,412...75,975,918
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G |
Myo5c |
myosin VC |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 PMID:30732576 PMID:31688942 More...
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NCBI chr 8:75,989,497...76,066,485
Ensembl chr 8:75,989,528...76,066,483
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G |
Myorg |
myogenesis regulating glycosidase |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:56,654,257...56,664,467
Ensembl chr 5:56,648,643...56,664,440
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G |
Naa10 |
N(alpha)-acetyltransferase 10, NatA catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23184456 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,656,056...151,661,304
Ensembl chr X:151,656,056...151,661,252
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G |
Nab2 |
Ngfi-A binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,497,589...63,504,105
Ensembl chr 7:63,497,589...63,503,989
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G |
Naca |
nascent polypeptide associated complex subunit alpha |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:468,862...481,992
Ensembl chr 7:469,723...481,992
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G |
Ndufa4l2 |
NDUFA4, mitochondrial complex associated like 2 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,351,021...63,359,010
Ensembl chr 7:63,356,883...63,359,010
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G |
Nemp1 |
nuclear envelope integral membrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,514,025...63,538,791
Ensembl chr 7:63,479,951...63,534,602
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G |
Nipa1 |
NIPA magnesium transporter 1 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:15643603 PMID:15711826 PMID:16267846 PMID:17092466 PMID:17166836 PMID:18191948 PMID:19091982 PMID:19620182 PMID:20816793 PMID:21599812 PMID:22302102 PMID:24075313 PMID:24128679 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28832565 PMID:29934652 PMID:31104286 PMID:31630374 PMID:32500351 PMID:32581362 More...
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NCBI chr 1:106,834,000...106,875,148
Ensembl chr 1:106,834,000...106,874,790
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G |
Nlrc4 |
NLR family, CARD domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:32581362 |
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NCBI chr 6:20,991,785...21,018,254
Ensembl chr 6:20,995,266...21,018,248
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G |
Nol6 |
nucleolar protein 6 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:56,259,919...56,270,540
Ensembl chr 5:56,260,830...56,270,336
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G |
Nos2 |
nitric oxide synthase 2 |
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IEP |
protein:increased expression:Lumbar segment of spinal cord, bone marrow-derived macrophage (rat) |
RGD |
PMID:21959174 |
RGD:5509577 |
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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G |
Npr2 |
natriuretic peptide receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
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G |
Nsd3 |
nuclear receptor binding SET domain protein 3 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr16:66,354,030...66,466,202
Ensembl chr16:66,358,973...66,465,423
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G |
Nsdhl |
NAD(P) dependent steroid dehydrogenase-like |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:150,775,034...150,807,161
Ensembl chr X:150,775,080...150,807,142
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G |
Nubpl |
NUBP iron-sulfur cluster assembly factor like |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:21620353 PMID:25552650 PMID:27444738 PMID:28492532 |
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NCBI chr 6:69,559,278...69,781,254
Ensembl chr 6:69,559,291...69,781,253
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G |
Nudt2 |
nudix hydrolase 2 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:56,628,265...56,643,104
Ensembl chr 5:56,628,265...56,643,104
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G |
Nxph4 |
neurexophilin 4 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,367,758...63,376,579
Ensembl chr 7:63,367,761...63,376,579
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G |
Obscn |
obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:18094336 PMID:23462291 PMID:25971455 PMID:27785568 PMID:28492532 PMID:28671726 More...
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NCBI chr10:43,774,113...43,919,718
Ensembl chr10:43,789,293...43,919,723
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G |
Onecut1 |
one cut homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 PMID:30732576 PMID:31688942 More...
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NCBI chr 8:75,599,432...75,633,598
Ensembl chr 8:75,599,740...75,627,277
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G |
Opn1mw |
opsin 1, medium wave sensitive |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,905,056...151,925,419
Ensembl chr X:151,905,096...151,925,388
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G |
Or13c7 |
olfactory receptor family 13 subfamily C member 7 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chr 5:58,081,150...58,082,109
Ensembl chr 5:58,077,726...58,083,852
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G |
Or13j1 |
olfactory receptor family 13 subfamily J member 1 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chr 5:57,961,391...57,962,329
Ensembl chr 5:57,960,219...57,965,853
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G |
Os9 |
OS9, endoplasmic reticulum lectin |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:62,915,498...62,957,591
Ensembl chr 7:62,915,515...62,943,745
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G |
Pan2 |
poly(A) specific ribonuclease subunit PAN2 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:729,146...747,744
Ensembl chr 7:729,562...747,744
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G |
Pax5 |
paired box 5 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chr 5:58,763,334...58,945,719
Ensembl chr 5:58,765,036...58,944,326
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G |
Pdzd4 |
PDZ domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23184456 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,530,390...151,560,779
Ensembl chr X:151,530,390...151,560,826
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G |
Phf24 |
PHD finger protein 24 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chr 5:57,143,428...57,171,054
Ensembl chr 5:57,142,632...57,168,497
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G |
Pigo |
phosphatidylinositol glycan anchor biosynthesis, class O |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146
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G |
Pip4k2c |
phosphatidylinositol-5-phosphate 4-kinase type 2 gamma |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,020,004...63,035,086
Ensembl chr 7:63,020,000...63,035,078
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G |
Plekha2 |
pleckstrin homology domain containing A2 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
|
NCBI chr16:66,938,684...67,000,661
Ensembl chr16:66,939,109...66,999,395
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G |
Plpbp |
pyridoxal phosphate binding protein |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
|
NCBI chr16:65,003,292...65,014,886
Ensembl chr16:65,002,223...65,014,886
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G |
Plpp5 |
phospholipid phosphatase 5 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
|
NCBI chr16:66,349,483...66,353,887
Ensembl chr16:66,349,502...66,464,797
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G |
Plxna3 |
plexin A3 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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|
NCBI chr X:152,115,699...152,131,608
Ensembl chr X:152,115,819...152,131,603
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G |
Plxnb3 |
plexin B3 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23184456 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,493,832...151,508,688
Ensembl chr X:151,494,207...151,508,674
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G |
Pnck |
pregnancy up-regulated nonubiquitous CaM kinase |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,369,406...151,373,508
Ensembl chr X:151,369,410...151,373,446
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G |
Pnma3 |
PNMA family member 3 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:150,906,080...150,912,674
Ensembl chr X:150,906,278...150,910,839
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G |
Pnma5 |
PNMA family member 5 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:150,880,865...150,882,789
Ensembl chr X:150,880,865...150,882,789
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G |
Pnma6e |
PNMA family member 6E |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,103,531...151,108,630
Ensembl chr X:151,103,755...151,106,037
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G |
Prim1 |
DNA primase subunit 1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:446,342...462,526
Ensembl chr 7:431,805...462,526
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G |
Prkd1 |
protein kinase D1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:21620353 PMID:25552650 PMID:27444738 PMID:28492532 |
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NCBI chr 6:67,725,193...68,039,002
Ensembl chr 6:67,725,905...68,039,042
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G |
Prss3 |
serine protease 3 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 4:70,203,088...70,206,562
Ensembl chr 4:70,203,088...70,206,562
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G |
Ptges3 |
prostaglandin E synthase 3 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:490,698...507,759
Ensembl chr 7:490,656...508,084
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G |
R3hdm2 |
R3H domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,212,519...63,340,574
Ensembl chr 7:63,232,346...63,340,540
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G |
Rab11fip1 |
RAB11 family interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr16:64,886,902...64,917,491
Ensembl chr16:64,884,676...64,917,491
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G |
Rbms2 |
RNA binding motif, single stranded interacting protein 2 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:560,787...603,881
Ensembl chr 7:560,648...600,232
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G |
Rdh11 |
retinol dehydrogenase 11 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:18394578 PMID:19805727 PMID:28492532 |
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NCBI chr 6:97,979,377...97,995,252
Ensembl chr 6:97,979,378...97,995,252
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G |
Rdh12 |
retinol dehydrogenase 12 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:18394578 PMID:19805727 PMID:28492532 |
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NCBI chr 6:98,015,465...98,028,388
Ensembl chr 6:98,015,465...98,028,388
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G |
Rdh16 |
retinol dehydrogenase 16 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,616,711...63,625,053
Ensembl chr 7:63,597,536...63,624,124
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G |
Reck |
reversion-inducing-cysteine-rich protein with kazal motifs |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:58,102,961...58,169,516
Ensembl chr 5:58,102,981...58,169,502
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G |
Reep1 |
receptor accessory protein 1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:16199547 PMID:16826527 PMID:18321925 PMID:18644145 PMID:20718791 PMID:22703882 PMID:23812641 PMID:24478229 PMID:25525159 PMID:25741868 PMID:26201691 PMID:26467025 PMID:27066569 PMID:28492532 PMID:29124833 PMID:30564185 PMID:32581362 More...
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NCBI chr 4:103,746,004...103,862,347
Ensembl chr 4:103,745,633...103,862,338
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G |
Renbp |
renin binding protein |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23184456 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,661,463...151,670,538
Ensembl chr X:151,661,458...151,670,516
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G |
Rfwd3 |
ring finger and WD repeat domain 3 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr19:39,235,883...39,268,479
Ensembl chr19:39,236,787...39,268,479
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G |
Rgp1 |
RGP1 homolog, RAB6A GEF complex partner 1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:57,834,467...57,843,087
Ensembl chr 5:57,834,629...57,843,086
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G |
Ribc1 |
RIB43A domain with coiled-coils 1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr X:21,091,717...21,103,688
Ensembl chr X:21,091,717...21,103,200
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G |
Rnf170 |
ring finger protein 170 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:25741868 PMID:31636353 |
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NCBI chr16:65,928,886...65,954,092
Ensembl chr16:65,928,895...65,954,083
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G |
Rnf38 |
ring finger protein 38 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:58,358,771...58,467,424
Ensembl chr 5:58,361,976...58,467,446
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G |
Rpl10 |
ribosomal protein L10 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:152,054,562...152,056,769
Ensembl chr X:152,054,452...152,056,761
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G |
Rpp25l |
ribonuclease P/MRP subunit p25 like |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:56,878,420...56,879,956
Ensembl chr 5:56,876,316...56,880,013
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G |
Rtn2 |
reticulon 2 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22232211 PMID:24123792 PMID:25741868 PMID:26467025 PMID:27165006 PMID:28166811 PMID:28492532 More...
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NCBI chr 1:78,935,056...78,948,069
Ensembl chr 1:78,935,104...78,948,069
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G |
Rusc2 |
RUN and SH3 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:57,628,397...57,675,524
Ensembl chr 5:57,629,904...57,675,524
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G |
Sacs |
sacsin molecular chaperone |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9536098 PMID:9892370 PMID:10053011 PMID:10610707 PMID:10655055 PMID:11788093 PMID:12873855 PMID:14718706 PMID:14718707 PMID:15156359 PMID:15486997 PMID:16007637 PMID:16198375 PMID:16199547 PMID:16944349 PMID:16961075 PMID:17290461 PMID:17516465 PMID:17576681 PMID:18285821 PMID:18398442 PMID:18414213 PMID:18439928 PMID:18465152 PMID:18569450 PMID:18604465 PMID:19031088 PMID:19208398 PMID:19208651 PMID:19763152 PMID:19779133 PMID:19892370 PMID:20301432 PMID:20307669 PMID:20368637 PMID:20798953 PMID:20852969 PMID:20876471 PMID:21410841 PMID:21416271 PMID:21450511 PMID:21507954 PMID:21665375 PMID:21745802 PMID:21993619 PMID:22287014 PMID:22307627 PMID:22406018 PMID:22816526 PMID:23043354 PMID:23123642 PMID:23250129 PMID:23280630 PMID:23338241 PMID:23497566 PMID:23785480 PMID:24033266 PMID:24108619 PMID:24164681 PMID:24180463 PMID:24384335 PMID:24418350 PMID:24457356 PMID:25260547 PMID:25326637 PMID:25401298 PMID:25405613 PMID:25497598 PMID:25741868 PMID:25819952 PMID:25887915 PMID:26010040 PMID:26068213 PMID:26288984 PMID:26302956 PMID:26366743 PMID:26410750 PMID:26467025 PMID:26530509 PMID:26539891 PMID:27133561 PMID:27142713 PMID:27217339 PMID:27288452 PMID:27391121 PMID:27433545 PMID:27600236 PMID:27871429 PMID:27965395 PMID:27980752 PMID:28251916 PMID:28454995 PMID:28491899 PMID:28492532 PMID:28535259 PMID:28641335 PMID:28658401 PMID:28832565 PMID:28972115 PMID:29093530 PMID:29220673 PMID:29277257 PMID:29321516 PMID:29379980 PMID:29389947 PMID:29417091 PMID:29449188 PMID:29453517 PMID:29482223 PMID:29538656 PMID:29858556 PMID:29915382 PMID:29945973 PMID:29968200 PMID:30271475 PMID:30460542 PMID:30638817 PMID:30680480 PMID:30866998 PMID:30901567 PMID:31069529 PMID:31130284 PMID:31230722 PMID:31429931 PMID:31475473 PMID:31493945 PMID:31519934 PMID:31637422 PMID:31673878 PMID:31692161 PMID:31743419 PMID:31920494 PMID:31980526 PMID:32140197 PMID:32488064 PMID:32581362 PMID:32606552 PMID:32816195 PMID:33414805 PMID:33624863 PMID:33746006 PMID:34121011 PMID:34234304 PMID:34426522 PMID:34600502 PMID:34649874 PMID:34663476 PMID:34758253 PMID:34786481 PMID:34816117 PMID:35130357 PMID:35326432 PMID:35499206 PMID:35578252 PMID:35731353 PMID:35904974 PMID:36233161 More...
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NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335
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G |
Scfd1 |
sec1 family domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:21620353 PMID:25552650 PMID:27444738 PMID:28492532 |
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NCBI chr 6:68,795,810...68,874,076
Ensembl chr 6:68,795,878...68,874,078
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G |
Scg3 |
secretogranin III |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 PMID:30732576 PMID:31688942 More...
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NCBI chr 8:76,399,777...76,442,015
Ensembl chr 8:76,399,777...76,442,015
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G |
Sdr9c7 |
short chain dehydrogenase/reductase family 9C, member 7 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,703,788...63,720,325
Ensembl chr 7:63,707,071...63,721,480
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G |
Setx |
senataxin |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:17159128 PMID:19569000 PMID:20981092 PMID:23941260 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
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G |
Sgcg |
sarcoglycan, gamma |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:15156359 PMID:18285821 PMID:18398442 PMID:18465152 PMID:19031088 PMID:19208398 PMID:19892370 PMID:20876471 PMID:21507954 PMID:21745802 PMID:24180463 PMID:28492532 More...
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NCBI chr15:35,388,836...35,435,072
Ensembl chr15:35,386,534...35,435,148
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G |
Shmt2 |
serine hydroxymethyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,358,961...63,364,293
Ensembl chr 7:63,358,961...63,364,236
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G |
Sigmar1 |
sigma non-opioid intracellular receptor 1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017
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G |
Sit1 |
signaling threshold regulating transmembrane adaptor 1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:57,740,212...57,741,838
Ensembl chr 5:57,740,218...57,741,838
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G |
Slc10a3 |
solute carrier family 10, member 3 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:152,154,757...152,158,563
Ensembl chr X:152,151,076...152,162,958
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G |
Slc16a2 |
solute carrier family 16 member 2 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9536098 PMID:15488219 PMID:15889350 PMID:15980113 PMID:16199547 PMID:16957765 PMID:17576681 PMID:17899191 PMID:18187543 PMID:18398436 PMID:18414213 PMID:19648159 PMID:19936787 PMID:20083155 PMID:20301789 PMID:21835051 PMID:21836662 PMID:23568789 PMID:23744248 PMID:24265446 PMID:24721225 PMID:25527620 PMID:25741868 PMID:27212794 PMID:27805744 PMID:27977298 PMID:28492532 PMID:29714107 PMID:30369548 PMID:31127274 PMID:31410843 PMID:32559475 PMID:33504798 PMID:33860439 More...
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NCBI chr X:68,725,365...68,848,572
Ensembl chr X:68,723,261...68,848,771
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G |
Slc19a3 |
solute carrier family 19 member 3 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:25741868 |
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NCBI chr 9:84,275,722...84,299,368
Ensembl chr 9:84,277,024...84,299,337
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G |
Slc30a6 |
solute carrier family 30 member 6 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:32581362 |
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NCBI chr 6:21,020,931...21,050,785
Ensembl chr 6:21,020,931...21,050,785
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G |
Slc33a1 |
solute carrier family 33 member 1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:22243965 PMID:24583203 PMID:25741868 PMID:26467025 PMID:27306358 PMID:28492532 PMID:35588347 PMID:35999711 More...
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NCBI chr 2:148,415,660...148,438,182
Ensembl chr 2:148,415,666...148,437,758
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G |
Slc6a8 |
solute carrier family 6 member 8 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23184456 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,384,675...151,393,979
Ensembl chr X:151,384,675...151,393,979
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G |
Smc1a |
structural maintenance of chromosomes 1A |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr X:21,103,323...21,148,053
Ensembl chr X:21,103,282...21,148,056
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G |
Spag8 |
sperm associated antigen 8 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:57,901,681...57,903,894
Ensembl chr 5:57,901,682...57,903,894
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G |
Spast |
spastin |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:16055926 PMID:16199547 PMID:16240363 PMID:17100993 PMID:20718791 PMID:20932283 PMID:23833562 PMID:24824479 PMID:25341883 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28572275 PMID:30476002 PMID:32581362 PMID:34445196 More...
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NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954
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G |
Spata31f1 |
SPATA31 subfamily F member 1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:57,065,743...57,071,880
Ensembl chr 5:57,065,747...57,071,738
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G |
Spata31g1 |
SPATA31 subfamily G member 1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:57,199,980...57,204,069
Ensembl chr 5:57,200,000...57,204,070
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G |
Spg11 |
SPG11 vesicle trafficking associated, spatacsin |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:19105190 PMID:20110243 PMID:20301389 PMID:21381113 PMID:22154821 PMID:23043354 PMID:23733235 PMID:25741868 PMID:26556829 PMID:28492532 More...
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NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911
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G |
Spmip6 |
sperm microtubule inner protein 6 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:56,666,160...56,678,865
Ensembl chr 5:56,666,058...56,678,923
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G |
Sppl2a |
signal peptide peptidase-like 2A |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 PMID:30732576 PMID:31688942 More...
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NCBI chr 3:114,149,337...114,193,408
Ensembl chr 3:114,151,069...114,193,264
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G |
Spryd4 |
SPRY domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:633,400...637,564
Ensembl chr 7:633,394...637,557
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G |
Srpk3 |
SRSF protein kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23184456 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,510,452...151,515,208
Ensembl chr X:151,510,539...151,515,198
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G |
Ssr4 |
signal sequence receptor subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23184456 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,524,191...151,528,218
Ensembl chr X:151,524,009...151,528,202
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G |
Stac3 |
SH3 and cysteine rich domain 3 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,343,078...63,350,590
Ensembl chr 7:63,343,186...63,350,589
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G |
Star |
steroidogenic acute regulatory protein |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672
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G |
Stat2 |
signal transducer and activator of transcription 2 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:702,565...718,349
Ensembl chr 7:702,495...718,967
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G |
Stat6 |
signal transducer and activator of transcription 6 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,480,229...63,497,551
Ensembl chr 7:63,479,642...63,498,495
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G |
Stoml2 |
stomatin like 2 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:57,256,227...57,259,824
Ensembl chr 5:57,256,220...57,259,920
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G |
Strn3 |
striatin 3 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:21620353 PMID:25552650 PMID:27444738 PMID:28492532 |
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NCBI chr 6:69,047,776...69,134,102
Ensembl chr 6:69,047,776...69,134,102
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G |
Tac3 |
tachykinin precursor 3 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:63,562,552...63,569,170
Ensembl chr 7:63,562,552...63,569,170
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G |
Tacc1 |
transforming, acidic coiled-coil containing protein 1 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr16:66,812,232...66,895,736
Ensembl chr16:66,812,295...66,895,733
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G |
Tafazzin |
tafazzin, phospholipid-lysophospholipid transacylase |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:152,065,539...152,076,178
Ensembl chr X:152,065,609...152,074,001
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G |
Tapbpl |
TAP binding protein-like |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9536098 PMID:11774073 PMID:17576681 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 PMID:28253535 PMID:28492532 PMID:30293248 PMID:33631708 PMID:35499206 More...
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NCBI chr 4:158,021,454...158,028,905
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G |
Tesk1 |
testis associated actin remodelling kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:57,691,922...57,697,698
Ensembl chr 5:57,691,969...57,697,698
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G |
Tex28 |
testis expressed 28 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,922,210...151,955,902
Ensembl chr X:151,925,526...151,954,567
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G |
Timeless |
timeless circadian regulator |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:654,804...678,769
Ensembl chr 7:654,822...678,738
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G |
Tktl1 |
transketolase-like 1 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:151,954,261...151,987,208
Ensembl chr X:151,954,175...151,987,208
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G |
Tln1 |
talin 1 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:57,787,670...57,817,900
Ensembl chr 5:57,787,943...57,817,900
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G |
Tm2d2 |
TM2 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr16:67,016,683...67,022,206
Ensembl chr16:67,012,675...67,022,226
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G |
Tmem8b |
transmembrane protein 8B |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chr 5:57,919,473...57,948,419
Ensembl chr 5:57,919,804...57,946,772
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G |
Tmlhe |
trimethyllysine hydroxylase, epsilon |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr20:91,234...138,942
Ensembl chr20:91,272...140,386
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G |
Tmod2 |
tropomodulin 2 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 PMID:30732576 PMID:31688942 More...
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NCBI chr 8:76,316,736...76,366,003
Ensembl chr 8:76,325,667...76,365,720
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G |
Tmod3 |
tropomodulin 3 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 PMID:30732576 PMID:31688942 More...
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NCBI chr 8:76,248,978...76,310,855
Ensembl chr 8:76,248,979...76,310,977
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G |
Tnfaip8l3 |
TNF alpha induced protein 8 like 3 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 PMID:30732576 PMID:31688942 More...
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NCBI chr 8:54,413,503...54,455,512
Ensembl chr 8:54,414,457...54,500,079
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G |
Tnfrsf19 |
TNF receptor superfamily member 19 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr15:35,092,206...35,158,472
Ensembl chr15:35,092,206...35,180,795
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G |
Tpm2 |
tropomyosin 2 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992
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G |
Trex2 |
three prime repair exonuclease 2 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,151,862...151,153,470
Ensembl chr X:151,151,864...151,153,479
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G |
Tsfm |
Ts translation elongation factor, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:62,828,997...62,864,784
Ensembl chr 7:62,845,488...62,864,769
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G |
Tspan31 |
tetraspanin 31 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 7:62,889,552...62,892,428
Ensembl chr 7:62,889,552...62,898,388
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G |
Ttc27 |
tetratricopeptide repeat domain 27 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
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NCBI chr 6:20,558,756...20,702,126
Ensembl chr 6:20,558,756...20,702,115
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G |
Ubap1 |
ubiquitin-associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chr 5:56,520,722...56,561,153
Ensembl chr 5:56,520,743...56,561,152
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G |
Ubap2 |
ubiquitin-associated protein 2 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chr 5:56,348,243...56,437,403
Ensembl chr 5:56,348,246...56,437,049
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G |
Ube2r2 |
ubiquitin-conjugating enzyme E2R 2 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chr 5:56,286,604...56,345,160
Ensembl chr 5:56,286,725...56,345,513
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G |
Ubl4a |
ubiquitin-like 4A |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:18177777 PMID:18627054 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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NCBI chr X:152,151,242...152,154,094
Ensembl chr X:152,151,460...152,154,069
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G |
Unc13b |
unc-13 homolog B |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chr 5:57,288,999...57,504,110
Ensembl chr 5:57,289,227...57,502,926
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G |
Vamp1 |
vesicle-associated membrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9536098 PMID:11774073 PMID:17576681 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 PMID:28253535 PMID:28492532 PMID:30293248 PMID:33631708 PMID:35499206 More...
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NCBI chr 4:158,012,634...158,019,350
Ensembl chr 4:158,012,663...158,019,349
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G |
Vbp1 |
VHL binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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G |
Vcp |
valosin-containing protein |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:15034582 PMID:18845250 PMID:20604808 PMID:22270372 PMID:22909335 PMID:23332916 PMID:23332917 PMID:23333620 PMID:25617006 PMID:25741868 PMID:28492532 PMID:33144514 More...
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NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
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G |
Washc5 |
WASH complex subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr 7:90,884,192...90,936,096
Ensembl chr 7:90,884,197...90,936,103
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G |
Wdr59 |
WD repeat domain 59 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
|
NCBI chr19:39,416,432...39,483,773
Ensembl chr19:39,416,429...39,483,698
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G |
Wdr72 |
WD repeat domain 72 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 PMID:30732576 PMID:31688942 More...
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NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229
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G |
Wnt3a |
Wnt family member 3A |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:18094336 PMID:23462291 PMID:25971455 PMID:27785568 PMID:28492532 PMID:28671726 More...
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NCBI chr10:44,034,174...44,078,366
Ensembl chr10:44,034,194...44,078,324
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G |
Yipf4 |
Yip1 domain family, member 4 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
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NCBI chr 6:20,950,774...20,962,195
Ensembl chr 6:20,950,501...20,962,229
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G |
Zbtb39 |
zinc finger and BTB domain containing 39 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
|
NCBI chr 7:63,576,998...63,584,549
Ensembl chr 7:63,576,917...63,589,210
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G |
Zcchc7 |
zinc finger CCHC-type containing 7 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chr 5:58,992,558...59,173,308
Ensembl chr 5:58,993,290...59,173,300
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G |
Zfp1 |
zinc finger protein 1 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
|
NCBI chr19:39,599,497...39,633,490
Ensembl chr19:39,599,954...39,632,995
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G |
Zfp185 |
zinc finger protein 185 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:150,831,869...150,877,652
Ensembl chr X:150,831,862...150,874,810
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G |
Zfp92 |
ZFP92 zinc finger protein |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 PMID:16601897 PMID:16684786 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 More...
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NCBI chr X:151,116,794...151,142,451
Ensembl chr X:151,117,102...151,143,177
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G |
Zfyve26 |
zinc finger FYVE-type containing 26 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:6944241 PMID:9536098 PMID:11342696 PMID:16199547 PMID:17576681 PMID:17661097 PMID:18394578 PMID:18414213 PMID:19084844 PMID:19763152 PMID:19805727 PMID:19917823 PMID:20307669 PMID:21462267 PMID:22406018 PMID:23733235 PMID:24030950 PMID:24088041 PMID:24833714 PMID:25133958 PMID:25497598 PMID:25525159 PMID:25741868 PMID:26467025 PMID:26492578 PMID:26633545 PMID:26944241 PMID:27217339 PMID:27544497 PMID:28492532 PMID:28832565 PMID:29246610 PMID:29590070 PMID:29858556 PMID:30555096 PMID:31108397 PMID:31692161 PMID:37041082 PMID:37091313 More...
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NCBI chr 6:98,031,874...98,095,538
Ensembl chr 6:98,032,520...98,095,480
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G |
Zfyve27 |
zinc finger FYVE-type containing 27 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:16199547 PMID:16826525 PMID:17576681 PMID:18606302 PMID:24668814 PMID:25741868 PMID:28166811 PMID:28492532 PMID:30564185 More...
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NCBI chr 1:240,979,831...241,003,193
Ensembl chr 1:240,979,842...241,003,193
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G |
Znrf1 |
zinc and ring finger 1 |
|
ISO |
ClinVar Annotator: match by term: Spastic paraplegia |
ClinVar |
PMID:28492532 |
|
NCBI chr19:39,496,414...39,581,600
Ensembl chr19:39,496,527...39,580,969
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Dnajc19 |
DnaJ heat shock protein family (Hsp40) member C19 |
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ISO |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 |
ClinVar |
PMID:16055927 PMID:27928778 PMID:28492532 |
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NCBI chr 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264
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Opa3 |
outer mitochondrial membrane lipid metabolism regulator OPA3 |
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ISO ISS |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 | ClinVar Annotator: match by term: Costeff optic atrophy syndrome OMIM:258501 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:11668429 PMID:12126933 PMID:15342707 PMID:15902555 PMID:17576681 PMID:18985435 PMID:20301646 PMID:20350831 PMID:23700088 PMID:24136862 PMID:24749080 PMID:25159689 PMID:25201222 PMID:25205859 PMID:25741868 PMID:26190011 PMID:27528516 PMID:27629047 PMID:28081242 PMID:28492532 PMID:30004997 PMID:31119193 PMID:32855858 PMID:32883240 More...
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NCBI chr 1:78,879,612...78,910,453
Ensembl chr 1:78,880,114...78,901,469 Ensembl chr 1:78,880,114...78,901,469
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Atp5mc3 |
ATP synthase membrane subunit c locus 3 |
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ISO |
ClinVar Annotator: match by term: Dystonia, early-onset, and/or spastic paraplegia |
OMIM ClinVar |
PMID:19006192 PMID:34636445 PMID:34954817 |
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NCBI chr 3:58,810,535...58,813,185
Ensembl chr 3:58,810,535...58,814,279
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Als2 |
alsin Rho guanine nucleotide exchange factor ALS2 |
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ISO |
ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis | ClinVar Annotator: match by term: Spastic paralysis, infantile onset ascending CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:11586297 PMID:11586298 PMID:12145748 PMID:12509863 PMID:12919135 PMID:14676054 PMID:16199547 PMID:16718699 PMID:17576681 PMID:18523452 PMID:18852346 PMID:20077034 PMID:22152675 PMID:23881933 PMID:24315819 PMID:24562058 PMID:25131622 PMID:25174650 PMID:25302125 PMID:25356970 PMID:25363768 PMID:25558820 PMID:25588603 PMID:25741868 PMID:26257771 PMID:26467025 PMID:26742954 PMID:27159321 PMID:27601211 PMID:27790088 PMID:28160950 PMID:28407358 PMID:28430856 PMID:28492532 PMID:28600779 PMID:28709720 PMID:28714951 PMID:28832565 PMID:29525178 PMID:29605155 PMID:30054184 PMID:30128655 PMID:30224357 PMID:30581417 PMID:31130284 PMID:31182772 PMID:31405128 PMID:32214227 PMID:32397312 PMID:32579787 PMID:33409823 PMID:33589474 PMID:33770234 PMID:34011629 PMID:34670123 PMID:37091313 More...
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NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737
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Mpp4 |
MAGUK p55 scaffold protein 4 |
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ISO |
ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis |
ClinVar |
PMID:11586298 PMID:22152675 PMID:24315819 PMID:28492532 |
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NCBI chr 9:60,569,734...60,613,035
Ensembl chr 9:60,569,734...60,611,797
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Tmem237 |
transmembrane protein 237 |
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ISO |
ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis |
ClinVar |
PMID:11586298 PMID:22152675 PMID:24315819 PMID:28492532 |
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NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567
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Abhd16a |
abhydrolase domain containing 16A, phospholipase |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia | ClinVar Annotator: match by term: Complex hereditary spastic paraplegia |
ClinVar |
PMID:25741868 |
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NCBI chr20:3,719,089...3,733,952
Ensembl chr20:3,719,091...3,733,927
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Adam28 |
ADAM metallopeptidase domain 28 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
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NCBI chr15:43,774,463...43,840,726
Ensembl chr15:42,944,467...43,840,672
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Adgrb2 |
adhesion G protein-coupled receptor B2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 |
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NCBI chr 5:142,299,190...142,362,540
Ensembl chr 5:142,331,329...142,362,540
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Aldh18a1 |
aldehyde dehydrogenase 18 family, member A1 |
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ISO |
DNA:mutations:cds: ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar RGD |
PMID:25741868 PMID:28492532 PMID:26026163 |
RGD:13434921 |
NCBI chr 1:239,375,657...239,407,956
Ensembl chr 1:239,375,669...239,407,890
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Als2 |
alsin Rho guanine nucleotide exchange factor ALS2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:9536098 PMID:14676054 PMID:17576681 PMID:18852346 PMID:20077034 PMID:23881933 PMID:25174650 PMID:25363768 PMID:25558820 PMID:25741868 PMID:26257771 PMID:26467025 PMID:27790088 PMID:28407358 PMID:28430856 PMID:28492532 PMID:28714951 PMID:28832565 PMID:29525178 PMID:31182772 PMID:32397312 PMID:33770234 PMID:34011629 PMID:34670123 PMID:37091313 More...
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NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737
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Ampd2 |
adenosine monophosphate deaminase 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28832565 |
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NCBI chr 2:195,707,609...195,720,454
Ensembl chr 2:195,707,610...195,720,271
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Ap4b1 |
adaptor related protein complex 4 subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:18414213 PMID:22290197 PMID:24700674 PMID:24781758 PMID:25167861 PMID:25741868 PMID:26544806 PMID:28492532 PMID:28832565 PMID:29193663 PMID:32979048 PMID:33594065 More...
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NCBI chr 2:191,318,485...191,330,531
Ensembl chr 2:191,318,482...191,330,531
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Ap4e1 |
adaptor related protein complex 4 subunit epsilon 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:18414213 PMID:25741868 PMID:26350204 PMID:26544806 PMID:28492532 |
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NCBI chr 3:114,272,997...114,339,484
Ensembl chr 3:114,272,956...114,336,752
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Ap4m1 |
adaptor related protein complex 4 subunit mu 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:24700674 PMID:25326635 PMID:25496299 PMID:25558065 PMID:25741868 PMID:28492532 PMID:28832565 PMID:32979048 PMID:33001864 More...
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NCBI chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026
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Ap4s1 |
adaptor related protein complex 4 subunit sigma 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:18414213 PMID:25741868 PMID:26350204 PMID:28492532 |
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NCBI chr 6:69,133,403...69,174,488
Ensembl chr 6:69,133,373...69,175,496
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Ap5b1 |
adaptor related protein complex 5 subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:28832565 |
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NCBI chr 1:202,876,272...202,880,303
Ensembl chr 1:202,876,272...202,880,289
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Ap5z1 |
adaptor related protein complex 5 subunit zeta 1 |
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ISO |
DNA:mutations: : ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive |
ClinVar RGD |
PMID:9536098 PMID:17576681 PMID:20613862 PMID:24033266 PMID:24833714 PMID:24926664 PMID:25333062 PMID:25741868 PMID:26467025 PMID:27606357 PMID:28492532 PMID:28832565 PMID:34983064 PMID:20613862 More...
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RGD:9684952 |
NCBI chr12:12,093,834...12,109,043
Ensembl chr12:12,093,834...12,108,511
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Arhgap9 |
Rho GTPase activating protein 9 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:28832565 |
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NCBI chr 7:63,148,573...63,157,025
Ensembl chr 7:63,148,900...63,157,524
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Arsi |
arylsulfatase family, member I |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:28492532 PMID:28832565 |
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NCBI chr18:54,364,160...54,371,772
Ensembl chr18:54,364,088...54,371,767
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Atl1 |
atlastin GTPase 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive |
ClinVar |
PMID:8252041 PMID:11685207 PMID:14607301 PMID:15517445 PMID:15596607 PMID:15742100 PMID:16401858 PMID:16537571 PMID:16612642 PMID:17285536 PMID:17321752 PMID:17427918 PMID:17502470 PMID:19423133 PMID:19652243 PMID:20718791 PMID:20816793 PMID:20862796 PMID:20932283 PMID:20947813 PMID:21336785 PMID:21494555 PMID:22581552 PMID:23079343 PMID:23233086 PMID:23334294 PMID:23400676 PMID:24473461 PMID:24482476 PMID:24604904 PMID:25193411 PMID:25341883 PMID:25637064 PMID:25741868 PMID:25761634 PMID:26208798 PMID:26374131 PMID:26467025 PMID:27751653 PMID:28492532 PMID:29934652 PMID:29980238 PMID:30780198 PMID:31227335 PMID:31630374 PMID:31920481 PMID:32322428 PMID:32581362 PMID:34546351 PMID:34808209 More...
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NCBI chr 6:88,377,168...88,475,242
Ensembl chr 6:88,377,239...88,475,204
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Bicd2 |
BICD cargo adaptor 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:23664116 PMID:25741868 PMID:26467025 PMID:27549087 PMID:28492532 PMID:28832565 More...
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NCBI chr17:15,259,773...15,304,889
Ensembl chr17:15,259,773...15,304,889
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Borcs7 |
BLOC-1 related complex subunit 7 |
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ISS |
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MouseDO |
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NCBI chr 1:245,564,347...245,578,182
Ensembl chr 1:245,564,369...245,579,343
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Bscl2 |
BSCL2 lipid droplet biogenesis associated, seipin |
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ISO |
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:15126564 PMID:15732094 PMID:16427281 PMID:16574104 PMID:17387721 PMID:18585921 PMID:18612770 PMID:18690553 PMID:18790819 PMID:19396477 PMID:20598714 PMID:21750110 PMID:21957196 PMID:22045697 PMID:22474068 PMID:23553728 PMID:23963299 PMID:24345054 PMID:25219579 PMID:25454168 PMID:25588603 PMID:25741868 PMID:26467025 PMID:27738760 PMID:28166811 PMID:28492532 PMID:28832565 PMID:29269637 PMID:30004997 PMID:31824185 PMID:32320108 PMID:34085946 PMID:34942918 PMID:35351089 PMID:13680364 More...
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RGD:1600602 |
NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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C1h19orf12 |
similar to human chromosome 19 open reading frame 12 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:21981780 PMID:23269600 PMID:24361204 PMID:25558065 PMID:25741868 PMID:27112773 PMID:28492532 PMID:28832565 PMID:31087512 PMID:31105013 PMID:32552793 More...
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NCBI chr 1:90,873,578...90,887,205
Ensembl chr 1:90,873,549...90,886,208
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Cct5 |
chaperonin containing TCP1 subunit 5 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:28492532 PMID:28832565 |
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NCBI chr 2:82,591,750...82,602,903
Ensembl chr 2:82,590,630...82,602,930
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Cep63 |
centrosomal protein 63 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:28488683 |
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NCBI chr 8:103,162,639...103,214,177
Ensembl chr 8:103,162,700...103,214,177
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Cnnm2 |
cyclin and CBS domain divalent metal cation transport mediator 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286
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Cyp2u1 |
cytochrome P450, family 2, subfamily u, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:14660610 PMID:23176821 PMID:25741868 PMID:28492532 PMID:29034544 PMID:33107650 PMID:36166872 More...
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NCBI chr 2:219,849,403...219,866,959
Ensembl chr 2:219,849,407...219,866,882
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Cyp7b1 |
cytochrome P450 family 7 subfamily B member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive |
CTD ClinVar |
PMID:1943942 PMID:2411763 PMID:7987300 PMID:9536098 PMID:9802883 PMID:12874406 PMID:15007371 PMID:17503452 PMID:17576681 PMID:18252231 PMID:18367963 PMID:18855023 PMID:19187859 PMID:19363635 PMID:19439420 PMID:19812052 PMID:21214876 PMID:21541746 PMID:21567895 PMID:21623769 PMID:21966169 PMID:22384504 PMID:23812641 PMID:24033266 PMID:24117163 PMID:24340040 PMID:24641183 PMID:24658845 PMID:24927729 PMID:25324891 PMID:25326635 PMID:25525159 PMID:25741868 PMID:26370385 PMID:26467025 PMID:26714052 PMID:27077743 PMID:27217339 PMID:27879216 PMID:27879220 PMID:27957547 PMID:28039895 PMID:28492532 PMID:28832565 PMID:29126212 PMID:29228183 PMID:29246610 PMID:29980238 PMID:31589614 PMID:32202070 PMID:33160247 PMID:34426522 More...
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NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698
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Dclre1b |
DNA cross-link repair 1B |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:191,309,909...191,318,399
Ensembl chr 2:191,309,913...191,318,423
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Ddhd1 |
DDHD domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:23176821 PMID:24989667 PMID:25741868 PMID:26944165 PMID:27216551 PMID:28492532 More...
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NCBI chr15:18,824,389...18,891,036
Ensembl chr15:18,824,394...18,890,952
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Ddhd2 |
DDHD domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:9536098 PMID:17576681 PMID:23176823 PMID:24337409 PMID:24517879 PMID:25417924 PMID:25558065 PMID:25741868 PMID:28492532 PMID:32488064 More...
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NCBI chr16:66,319,469...66,349,025
Ensembl chr16:66,319,466...66,349,023
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Dnajc16 |
DnaJ heat shock protein family (Hsp40) member C16 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
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NCBI chr 5:154,073,372...154,106,246
Ensembl chr 5:154,075,261...154,106,136
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Eif3j |
eukaryotic translation initiation factor 3, subunit J |
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ISO |
ClinVar Annotator: match by term: Spastic Paraplegia, Recessive |
ClinVar |
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NCBI chr 3:108,985,103...109,007,341
Ensembl chr 3:108,985,118...109,007,953
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Entpd1 |
ectonucleoside triphosphate diphosphohydrolase 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:239,425,515...239,552,323
Ensembl chr 1:239,425,430...239,552,317
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Erlin1 |
ER lipid raft associated 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 |
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NCBI chr 1:242,921,147...242,956,472
Ensembl chr 1:242,921,152...242,956,394
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Erlin2 |
ER lipid raft associated 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:18414213 PMID:25741868 PMID:28492532 PMID:28832565 PMID:32147972 |
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NCBI chr16:65,017,654...65,034,184
Ensembl chr16:65,018,532...65,033,671
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Fa2h |
fatty acid 2-hydroxylase |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:18414213 PMID:24033266 PMID:24299421 PMID:24833714 PMID:25356970 PMID:25741868 PMID:26467025 PMID:27217339 PMID:27854218 PMID:27957547 PMID:28017243 PMID:28492532 PMID:30713878 PMID:31135052 PMID:31429931 PMID:32624042 PMID:33144682 PMID:34983064 PMID:35578252 More...
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NCBI chr19:39,312,904...39,364,153
Ensembl chr19:39,312,906...39,364,153
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Fanci |
FA complementation group I |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:21880868 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:28492532 PMID:35478072 More...
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NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
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Flrt1 |
fibronectin leucine rich transmembrane protein 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:28832565 |
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NCBI chr 1:204,275,785...204,292,844
Ensembl chr 1:204,275,367...204,353,750
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Gad1 |
glutamate decarboxylase 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28832565 |
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NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333
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Gba2 |
glucosylceramidase beta 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:20593214 PMID:23332916 PMID:23332917 PMID:25741868 PMID:26220345 PMID:28492532 PMID:28832565 More...
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NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072
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Gjc2 |
gap junction protein, gamma 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:18094336 PMID:20442743 PMID:21959080 PMID:22351697 PMID:22833003 PMID:23544880 PMID:25741868 PMID:26467025 PMID:27860360 PMID:28492532 PMID:29906362 PMID:35807022 More...
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NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467
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Hspd1 |
heat shock protein family D (Hsp60) member 1 |
susceptibility |
ISO |
DNA:missense mutation: :p.V72I ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive |
ClinVar RGD |
PMID:11898127 PMID:18414213 PMID:22552817 PMID:24033266 PMID:25326637 PMID:25741868 PMID:26467025 PMID:27630992 PMID:28166811 PMID:28492532 PMID:28832565 PMID:11898127 More...
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RGD:1624200, RGD:1624200 |
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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G |
Jak3 |
Janus kinase 3 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
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NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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G |
Kif1a |
kinesin family member 1A |
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ISO |
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 Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive |
ClinVar RGD |
PMID:9536098 PMID:17576681 PMID:21376300 PMID:25265257 PMID:25585697 PMID:25741868 PMID:26077850 PMID:26125038 PMID:26354034 PMID:26410750 PMID:26467025 PMID:27034427 PMID:27681307 PMID:28106320 PMID:28492532 PMID:28554332 PMID:28832565 PMID:28970574 PMID:29159194 PMID:29590070 PMID:29691679 PMID:31488895 PMID:31796088 PMID:32096284 PMID:32860008 PMID:33880452 PMID:28362824 More...
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RGD:12911231 |
NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480
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G |
Kif1c |
kinesin family member 1C |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:9536098 PMID:17576681 PMID:24482476 PMID:25741868 PMID:26633545 PMID:28492532 PMID:28832565 PMID:29482223 More...
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NCBI chr10:55,414,412...55,444,587
Ensembl chr10:55,415,900...55,443,545
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G |
Kif5a |
kinesin family member 5A |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia |
ClinVar |
PMID:15452312 PMID:18203753 PMID:18500496 PMID:18853458 PMID:21623771 PMID:25008398 PMID:25695920 PMID:25741868 PMID:26467025 PMID:26543653 PMID:28492532 PMID:28678816 PMID:28708278 PMID:28832565 PMID:29892902 PMID:30057544 PMID:31211173 PMID:31403080 PMID:31475037 PMID:33059505 PMID:33310205 PMID:34715294 PMID:35578252 PMID:37524782 More...
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NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858
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G |
Ky |
kyphoscoliosis peptidase |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:28488683 |
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NCBI chr 8:103,086,959...103,126,305
Ensembl chr 8:103,086,630...103,126,024
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G |
L1cam |
L1 cell adhesion molecule |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:9195224 PMID:9268105 PMID:10797421 PMID:11438988 PMID:11772994 PMID:16760466 PMID:18414213 PMID:19846429 PMID:22222883 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30487145 More...
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NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
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G |
L2hgdh |
L-2-hydroxyglutarate dehydrogenase |
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ISO |
DNA:mutation:cds:c.241A4G(p.K81E)(human) |
RGD |
PMID:24573090 |
RGD:13506824 |
NCBI chr 6:88,164,429...88,205,585
Ensembl chr 6:88,164,440...88,205,578
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G |
Macrod1 |
mono-ADP ribosylhydrolase 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:28832565 |
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NCBI chr 1:204,246,238...204,387,027
Ensembl chr 1:204,246,166...204,389,716
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G |
Mag |
myelin-associated glycoprotein |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28832565 PMID:31402626 |
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NCBI chr 1:86,148,227...86,163,726
Ensembl chr 1:86,148,228...86,163,656
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G |
Mars1 |
methionyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:28832565 |
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NCBI chr 7:63,121,142...63,138,550
Ensembl chr 7:63,121,142...63,138,495
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G |
Mcoln1 |
mucolipin TRP cation channel 1 |
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ISO |
ClinVar Annotator: match by term: Spastic Paraplegia, Recessive |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252
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G |
Milr1 |
mast cell immunoglobulin-like receptor 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 PMID:24033266 PMID:25741868 PMID:26123486 PMID:26251896 PMID:27535533 PMID:28492532 PMID:31286721 More...
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NCBI chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282
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G |
Mtrfr |
mitochondrial translation release factor in rescue |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:32,261,569...32,275,258
Ensembl chr12:32,258,435...32,275,258
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G |
Myt1 |
myelin transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
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NCBI chr 3:168,890,466...168,950,341
Ensembl chr 3:168,886,089...168,950,341
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G |
Nipa1 |
NIPA magnesium transporter 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:15643603 PMID:15711826 PMID:16267846 PMID:17092466 PMID:17166836 PMID:18191948 PMID:19091982 PMID:19620182 PMID:20816793 PMID:21599812 PMID:22302102 PMID:24075313 PMID:24128679 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28832565 PMID:29934652 PMID:31104286 PMID:31630374 PMID:32500351 PMID:32581362 More...
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NCBI chr 1:106,834,000...106,875,148
Ensembl chr 1:106,834,000...106,874,790
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G |
Npr3 |
natriuretic peptide receptor 3 |
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ISO |
ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 2:60,865,483...60,933,432
Ensembl chr 2:60,870,594...60,932,955
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G |
Nrg1 |
neuregulin 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
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NCBI chr16:59,250,658...60,304,519
Ensembl chr16:59,250,854...60,296,884
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G |
Nt5c2 |
5'-nucleotidase, cytosolic II |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 |
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NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913
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G |
Pgap1 |
post-GPI attachment to proteins inositol deacylase 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:55,975,574...56,044,325
Ensembl chr 9:55,975,667...56,044,464
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G |
Plekhg5 |
pleckstrin homology and RhoGEF domain containing G5 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
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NCBI chr 5:162,577,999...162,621,518
Ensembl chr 5:162,578,071...162,621,513
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G |
Plp1 |
proteolipid protein 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:10319897 PMID:15712223 PMID:24019930 PMID:25741868 PMID:26125040 PMID:26467025 PMID:28492532 PMID:30195779 More...
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NCBI chr X:100,184,039...100,201,035
Ensembl chr X:100,185,767...100,201,032
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G |
Pnpla6 |
patatin-like phospholipase domain containing 6 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive |
CTD ClinVar |
PMID:3963113 PMID:8053762 PMID:18313024 PMID:20382209 PMID:20603202 PMID:23733235 PMID:24355708 PMID:25033069 PMID:25133958 PMID:25299038 PMID:25359264 PMID:25480986 PMID:25574898 PMID:25741868 PMID:26467025 PMID:26995604 PMID:27866050 PMID:28492532 PMID:29221171 PMID:29248984 PMID:30555943 PMID:30564185 PMID:31048186 PMID:31135245 PMID:33141049 PMID:34426522 PMID:38735647 More...
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NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
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G |
Polg |
DNA polymerase gamma, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia |
ClinVar |
PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 PMID:11555352 PMID:11571332 PMID:12073019 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14557557 PMID:14635118 PMID:14694057 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15534189 PMID:15689359 PMID:15824347 PMID:15913923 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16385454 PMID:16401742 PMID:16545482 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16715201 PMID:16857757 PMID:16896309 PMID:16929381 PMID:16940310 PMID:16943369 PMID:17088268 PMID:17418573 PMID:17426723 PMID:17436221 PMID:17438011 PMID:17452231 PMID:17846414 PMID:17950645 PMID:17980715 PMID:18195151 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19364868 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19762913 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:19887119 PMID:20138553 PMID:20142534 PMID:20176107 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20513108 PMID:20513922 PMID:20576279 PMID:20691285 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20981092 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21259344 PMID:21276947 PMID:21301859 PMID:21357833 PMID:21484424 PMID:21515089 PMID:21647632 PMID:21670405 PMID:21686371 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22114710 PMID:22189570 PMID:22237560 PMID:22342071 PMID:22357363 PMID:22494076 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22931735 PMID:22933815 PMID:22987704 PMID:22995991 PMID:23066759 PMID:23084792 PMID:23212759 PMID:23250882 PMID:23251356 PMID:23324391 PMID:23419467 PMID:23426270 PMID:23430834 PMID:23448099 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23921535 PMID:24033266 PMID:24091540 PMID:24122062 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24331360 PMID:24508722 PMID:24642831 PMID:24725338 PMID:25118206 PMID:25193669 PMID:25203713 PMID:25286830 PMID:25356970 PMID:25462018 PMID:25488682 PMID:25585994 PMID:25660390 PMID:25741868 PMID:25742477 PMID:25850945 PMID:25852747 PMID:25940035 PMID:26077851 PMID:26095671 PMID:26104464 PMID:26224072 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26735972 PMID:26742794 PMID:26942291 PMID:26942292 PMID:26968897 PMID:27016405 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27422324 PMID:27538604 PMID:27917773 PMID:27987238 PMID:28074849 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28337550 PMID:28444220 PMID:28471437 PMID:28492532 PMID:28756246 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28901595 PMID:28958595 PMID:29029963 PMID:29190809 PMID:29214156 PMID:29341116 PMID:29358615 PMID:29431110 PMID:29474836 PMID:29588995 PMID:29655203 PMID:29992832 PMID:29997391 PMID:30167885 PMID:30255931 PMID:30369941 PMID:30373890 PMID:30404819 PMID:30423451 PMID:30451971 PMID:30487145 PMID:30609409 PMID:30637288 PMID:30843307 PMID:30936349 PMID:30941926 PMID:30951992 PMID:31085725 PMID:31521625 PMID:31571979 PMID:31589614 PMID:31645654 PMID:31655921 PMID:31658717 PMID:31665838 PMID:31669236 PMID:31980526 PMID:32165824 PMID:32234506 PMID:32348839 PMID:32391929 PMID:32445240 PMID:32502631 PMID:32964447 PMID:33233646 PMID:33396418 PMID:33473333 PMID:33486010 PMID:33513296 PMID:33579567 PMID:33671400 PMID:33683010 PMID:33726816 PMID:33791913 PMID:33956154 PMID:34008892 PMID:34052969 PMID:34062649 PMID:34194468 PMID:34426522 PMID:34670123 PMID:34690748 PMID:34782754 PMID:34927673 PMID:35114397 PMID:35350396 PMID:35478072 PMID:35598585 PMID:35699875 PMID:35799515 PMID:36325100 PMID:36332611 PMID:36987741 PMID:37091313 PMID:37184518 PMID:37189790 More...
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NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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G |
Polg2 |
DNA polymerase gamma 2, accessory subunit |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 PMID:24033266 PMID:25741868 PMID:26123486 PMID:26251896 PMID:27535533 PMID:28492532 PMID:31286721 More...
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NCBI chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008
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G |
Pqbp1 |
polyglutamine binding protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14634649 |
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NCBI chr X:14,603,516...14,608,091
Ensembl chr X:14,603,539...14,608,087
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G |
Rab9b |
RAB9B, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:10319897 PMID:15712223 PMID:24019930 PMID:25741868 PMID:26125040 PMID:26467025 PMID:28492532 PMID:30195779 More...
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NCBI chr X:100,220,897...100,231,591
Ensembl chr X:100,220,894...100,231,701
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G |
Reep1 |
receptor accessory protein 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia |
ClinVar |
PMID:16199547 PMID:16826527 PMID:18321925 PMID:18644145 PMID:19034539 PMID:19072839 PMID:20718791 PMID:22703882 PMID:23400676 PMID:23812641 PMID:24098485 PMID:24478229 PMID:25525159 PMID:25741868 PMID:26201691 PMID:26467025 PMID:28492532 PMID:28832565 PMID:29629531 PMID:30637453 PMID:32581362 More...
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NCBI chr 4:103,746,004...103,862,347
Ensembl chr 4:103,745,633...103,862,338
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G |
Retreg1 |
reticulophagy regulator 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 |
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NCBI chr 2:76,335,609...76,474,817
Ensembl chr 2:76,335,609...76,493,898
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G |
Rtn2 |
reticulon 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 1:78,935,056...78,948,069
Ensembl chr 1:78,935,104...78,948,069
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G |
Sacs |
sacsin molecular chaperone |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia | ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive |
ClinVar |
PMID:10610707 PMID:10655055 PMID:11788093 PMID:14718706 PMID:15156359 PMID:18414213 PMID:18465152 PMID:19779133 PMID:19892370 PMID:20301432 PMID:20852969 PMID:20876471 PMID:21450511 PMID:21507954 PMID:21745802 PMID:22287014 PMID:22307627 PMID:23123642 PMID:23250129 PMID:23280630 PMID:23497566 PMID:24108619 PMID:24418350 PMID:24457356 PMID:25401298 PMID:25405613 PMID:25497598 PMID:25741868 PMID:25887915 PMID:26302956 PMID:26410750 PMID:26467025 PMID:26539891 PMID:27288452 PMID:27433545 PMID:27871429 PMID:27965395 PMID:27980752 PMID:28251916 PMID:28454995 PMID:28492532 PMID:28535259 PMID:28641335 PMID:28658401 PMID:28832565 PMID:29220673 PMID:29379980 PMID:29449188 PMID:29482223 PMID:29538656 PMID:29915382 PMID:30271475 PMID:30460542 PMID:30638817 PMID:30680480 PMID:30901567 PMID:31519934 PMID:31637422 PMID:31673878 PMID:33624863 PMID:34426522 PMID:34600502 PMID:34786481 PMID:36233161 More...
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NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335
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G |
Setx |
senataxin |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive |
ClinVar |
PMID:9536098 PMID:17096168 PMID:17159128 PMID:17576681 PMID:18058631 PMID:19569000 PMID:19696032 PMID:20981092 PMID:21190393 PMID:22088787 PMID:22995991 PMID:23129421 PMID:23881933 PMID:23941260 PMID:25174650 PMID:25382069 PMID:25741868 PMID:26467025 PMID:27013921 PMID:27165006 PMID:27790088 PMID:28130640 PMID:28492532 PMID:28642336 PMID:28832565 PMID:29411640 PMID:29525178 PMID:29650794 PMID:31957062 PMID:32253937 PMID:32397312 PMID:32409511 PMID:33770234 PMID:35309588 More...
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NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
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G |
Slc16a2 |
solute carrier family 16 member 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:18414213 PMID:20301789 PMID:23568789 PMID:24265446 PMID:24721225 PMID:25527620 PMID:25741868 PMID:27212794 PMID:28492532 PMID:28832565 More...
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NCBI chr X:68,725,365...68,848,572
Ensembl chr X:68,723,261...68,848,771
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G |
Slc1a5 |
solute carrier family 1 member 5 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
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NCBI chr 1:77,456,849...77,470,952
Ensembl chr 1:77,456,694...77,470,952
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G |
Slc33a1 |
solute carrier family 33 member 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:24583203 PMID:25741868 PMID:26467025 PMID:28492532 PMID:35588347 |
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NCBI chr 2:148,415,660...148,438,182
Ensembl chr 2:148,415,666...148,437,758
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G |
Sorl1 |
sortilin related receptor 1 |
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ISO |
ClinVar Annotator: match by term: Complex hereditary spastic paraplegia |
ClinVar |
PMID:25741868 |
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NCBI chr 8:42,341,704...42,504,435
Ensembl chr 8:42,341,704...42,504,513
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G |
Spart |
spartin |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:23699601 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 2:139,292,630...139,319,248
Ensembl chr 2:139,292,355...139,319,248
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G |
Spast |
spastin |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia |
ClinVar |
PMID:9536098 PMID:10610178 PMID:10699187 PMID:11015453 PMID:11039577 PMID:11087788 PMID:11309678 PMID:11809724 PMID:11843700 PMID:12124993 PMID:12161613 PMID:12552568 PMID:15095758 PMID:15159500 PMID:15210521 PMID:15248095 PMID:15326248 PMID:15482961 PMID:15716377 PMID:15841487 PMID:16009769 PMID:16055926 PMID:16199547 PMID:16240363 PMID:16476945 PMID:16682546 PMID:16832076 PMID:17576681 PMID:17594340 PMID:17597328 PMID:17598600 PMID:17690846 PMID:17895902 PMID:17916079 PMID:17957230 PMID:17971434 PMID:18202664 PMID:18608088 PMID:18613979 PMID:18701882 PMID:19289482 PMID:19423133 PMID:19438933 PMID:19875132 PMID:20214791 PMID:20301339 PMID:20430936 PMID:20559269 PMID:20562464 PMID:20665701 PMID:20718791 PMID:20932283 PMID:21834905 PMID:21888932 PMID:22552817 PMID:22817815 PMID:22960362 PMID:23252998 PMID:23264559 PMID:23400676 PMID:24033003 PMID:24033266 PMID:24381312 PMID:24451228 PMID:24857849 PMID:25045380 PMID:25326637 PMID:25341883 PMID:25421405 PMID:25454648 PMID:25525159 PMID:25658484 PMID:25741868 PMID:25741869 PMID:26094131 PMID:26208798 PMID:26374131 PMID:26467025 PMID:26600529 PMID:26671083 PMID:27084228 PMID:27108959 PMID:27229699 PMID:27260292 PMID:27276562 PMID:27334366 PMID:27688599 PMID:27854218 PMID:27871443 PMID:27957547 PMID:28492532 PMID:28572275 PMID:28832565 PMID:29112992 PMID:29246610 PMID:29421991 PMID:29691679 PMID:29761117 PMID:29934652 PMID:29980238 PMID:30006150 PMID:30476002 PMID:30528841 PMID:30564185 PMID:30778698 PMID:31157359 PMID:31227335 PMID:31594988 PMID:31630374 PMID:31751864 PMID:31851166 PMID:32092540 PMID:33624935 PMID:34008892 PMID:34445196 PMID:34753439 PMID:34983064 PMID:37144097 More...
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NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954
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Spg11 |
SPG11 vesicle trafficking associated, spatacsin |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar Annotator: match by term: Complex hereditary spastic paraplegia | ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive |
ClinVar |
PMID:9536098 PMID:16199547 PMID:16773502 PMID:17322883 PMID:17576681 PMID:17717710 PMID:18067136 PMID:18079167 PMID:18332254 PMID:18337587 PMID:18408091 PMID:18414213 PMID:18439221 PMID:18717728 PMID:18835492 PMID:19087158 PMID:19105190 PMID:19196735 PMID:19438933 PMID:19466474 PMID:19917823 PMID:20110243 PMID:20301389 PMID:20390432 PMID:21625935 PMID:22154821 PMID:22175763 PMID:22237444 PMID:22246010 PMID:22696581 PMID:23121729 PMID:23221952 PMID:23443022 PMID:23733235 PMID:24033266 PMID:24090761 PMID:24451228 PMID:24731568 PMID:24833714 PMID:25059394 PMID:25174650 PMID:25299611 PMID:25525159 PMID:25588603 PMID:25741868 PMID:26046366 PMID:26183056 PMID:26374131 PMID:26467025 PMID:26556829 PMID:26601740 PMID:26755014 PMID:27066562 PMID:27071356 PMID:27180005 PMID:27217339 PMID:27457812 PMID:27790088 PMID:27884173 PMID:27900367 PMID:27904835 PMID:27957547 PMID:28130640 PMID:28492532 PMID:28832565 PMID:29525178 PMID:29691679 PMID:29732542 PMID:29908077 PMID:29980238 PMID:30081747 PMID:30212743 PMID:30574063 PMID:30609409 PMID:30778698 PMID:31281085 PMID:31289639 PMID:31407473 PMID:31589614 PMID:32005694 PMID:32166880 PMID:32293029 PMID:32383541 PMID:32397312 PMID:32409511 PMID:32483926 PMID:32579787 PMID:32671691 PMID:32987860 PMID:33059505 PMID:33084218 PMID:33098801 PMID:33589474 PMID:33624863 PMID:35066644 PMID:35254204 PMID:35326432 PMID:35464835 PMID:36028943 PMID:36139378 More...
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NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911
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Spg21 |
SPG21 abhydrolase domain containing, maspardin |
susceptibility |
ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar RGD |
PMID:6024251 PMID:14564668 PMID:16199547 PMID:25741868 PMID:26467025 PMID:28492532 PMID:14564668 More...
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RGD:1556574 |
NCBI chr 8:65,980,992...66,008,537
Ensembl chr 8:65,980,962...66,008,536
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Sub1 |
SUB1 regulator of transcription |
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ISO |
ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr 2:61,005,646...61,020,486
Ensembl chr 2:61,005,666...61,020,436 Ensembl chr 2:61,005,666...61,020,436
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G |
Tecpr2 |
tectonin beta-propeller repeat containing 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia |
CTD ClinVar |
PMID:9536098 PMID:17576681 PMID:23176824 PMID:25590979 PMID:25741868 PMID:26542466 PMID:27406698 PMID:28492532 PMID:29908077 PMID:30681437 PMID:32209221 PMID:32657593 PMID:33847017 More...
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NCBI chr 6:129,899,541...130,001,975
Ensembl chr 6:129,899,636...130,001,974
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Twnk |
twinkle mtDNA helicase |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:21689831 PMID:25741868 PMID:26467025 PMID:28492532 PMID:35982159 |
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NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
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Usp50 |
ubiquitin specific peptidase 50 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:114,012,104...114,035,468
Ensembl chr 3:114,011,702...114,035,476
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Usp8 |
ubiquitin specific peptidase 8 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 |
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NCBI chr 3:113,962,136...114,009,683
Ensembl chr 3:113,962,164...114,009,666
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Vps37a |
VPS37A subunit of ESCRT-I |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:51,736,170...51,775,384
Ensembl chr16:51,737,481...51,775,390
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Washc5 |
WASH complex subunit 5 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia |
ClinVar |
PMID:17160902 PMID:20301727 PMID:20833645 PMID:23085491 PMID:24215330 PMID:25741868 PMID:26467025 PMID:27957547 PMID:28492532 PMID:28514442 PMID:30896870 PMID:31227335 PMID:31911435 PMID:32816195 PMID:34184482 More...
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NCBI chr 7:90,884,192...90,936,096
Ensembl chr 7:90,884,197...90,936,103
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Wdr48 |
WD repeat domain 48 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:28832565 |
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NCBI chr 8:119,622,053...119,655,264
Ensembl chr 8:119,622,048...119,655,264
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Zfr |
zinc finger RNA binding protein |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 |
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NCBI chr 2:61,137,611...61,200,322
Ensembl chr 2:61,137,611...61,200,322
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Zfyve26 |
zinc finger FYVE-type containing 26 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive |
ClinVar |
PMID:6944241 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18394578 PMID:19805727 PMID:19917823 PMID:24088041 PMID:24833714 PMID:25133958 PMID:25741868 PMID:26467025 PMID:26633545 PMID:28492532 PMID:28832565 PMID:29246610 PMID:29590070 PMID:31108397 PMID:37091313 More...
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NCBI chr 6:98,031,874...98,095,538
Ensembl chr 6:98,032,520...98,095,480
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Atl1 |
atlastin GTPase 1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 6:88,377,168...88,475,242
Ensembl chr 6:88,377,239...88,475,204
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Erlin2 |
ER lipid raft associated 2 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant |
ClinVar |
PMID:25741868 |
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NCBI chr16:65,017,654...65,034,184
Ensembl chr16:65,018,532...65,033,671
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Hspd1 |
heat shock protein family D (Hsp60) member 1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant |
ClinVar |
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NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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Kif5a |
kinesin family member 5A |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 10 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY | ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant CTD Direct Evidence: marker/mechanism 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) |
OMIM ClinVar CTD RGD |
PMID:9536098 PMID:12355402 PMID:15452312 PMID:16476820 PMID:16489470 PMID:17576681 PMID:18203753 PMID:18500496 PMID:18853458 PMID:21623771 PMID:22552817 PMID:22714410 PMID:24123792 PMID:24731568 PMID:25008398 PMID:25352184 PMID:25695920 PMID:25741868 PMID:26374131 PMID:26467025 PMID:26543653 PMID:27084214 PMID:27463701 PMID:28362824 PMID:28492532 PMID:28678816 PMID:28708278 PMID:28832565 PMID:29566793 PMID:29892902 PMID:29908077 PMID:30057544 PMID:30581417 PMID:30778698 PMID:31211173 PMID:31403080 PMID:31422367 PMID:31475037 PMID:33059505 PMID:33155544 PMID:33208543 PMID:33310205 PMID:34715294 PMID:35578252 PMID:35896380 PMID:37524782 PMID:22466687 PMID:15452312 PMID:24939576 PMID:26374131 PMID:25352184 PMID:12355402 PMID:18245137 More...
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RGD:12793060, RGD:12859091, RGD:12859090, RGD:12793069, RGD:12793068, RGD:12793065, RGD:12793061 |
NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858
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Nipa1 |
NIPA magnesium transporter 1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant |
ClinVar |
PMID:28492532 |
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NCBI chr 1:106,834,000...106,875,148
Ensembl chr 1:106,834,000...106,874,790
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Reep1 |
receptor accessory protein 1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant |
ClinVar |
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NCBI chr 4:103,746,004...103,862,347
Ensembl chr 4:103,745,633...103,862,338
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Rtn2 |
reticulon 2 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 1:78,935,056...78,948,069
Ensembl chr 1:78,935,104...78,948,069
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Slc33a1 |
solute carrier family 33 member 1 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant |
ClinVar |
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NCBI chr 2:148,415,660...148,438,182
Ensembl chr 2:148,415,666...148,437,758
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Spast |
spastin |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954
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Washc5 |
WASH complex subunit 5 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant |
ClinVar |
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NCBI chr 7:90,884,192...90,936,096
Ensembl chr 7:90,884,197...90,936,103
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Zfyve27 |
zinc finger FYVE-type containing 27 |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant |
ClinVar |
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NCBI chr 1:240,979,831...241,003,193
Ensembl chr 1:240,979,842...241,003,193
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B2m |
beta-2 microglobulin |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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Chat |
choline O-acetyltransferase |
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ISO |
ClinVar Annotator: match by term: Gait disturbance |
ClinVar |
PMID:25741868 |
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NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,657,362...7,717,093
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Eif3j |
eukaryotic translation initiation factor 3, subunit J |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 |
ClinVar |
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NCBI chr 3:108,985,103...109,007,341
Ensembl chr 3:108,985,118...109,007,953
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Gch1 |
GTP cyclohydrolase 1 |
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ISO |
ClinVar Annotator: match by term: Gait disturbance |
ClinVar |
PMID:25741868 |
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NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698
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Patl2 |
PAT1 homolog 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 |
ClinVar |
PMID:19105190 PMID:20110243 PMID:22154821 PMID:26556829 PMID:28492532 |
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NCBI chr 3:109,072,958...109,087,425
Ensembl chr 3:109,075,290...109,083,253
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Scn1a |
sodium voltage-gated channel alpha subunit 1 |
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ISO |
ClinVar Annotator: match by term: Gait disturbance |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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Sdha |
succinate dehydrogenase complex flavoprotein subunit A |
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ISO |
ClinVar Annotator: match by term: Spastic paraplegia, mental retardation and thin corpus callosum |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
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Slc25a13 |
solute carrier family 25 member 13 |
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ISO |
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, WITH MENTAL IMPAIRMENT AND THIN CORPUS CALLOSUM |
ClinVar |
PMID:21507300 PMID:23053473 PMID:24069319 PMID:25741868 PMID:28492532 |
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NCBI chr 4:34,179,224...34,361,912
Ensembl chr 4:34,179,224...34,361,902
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Spg11 |
SPG11 vesicle trafficking associated, spatacsin |
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ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive | ClinVar Annotator: match by term: Spastic paraplegia, mental retardation and thin corpus callosum OMIM:604360 ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia, mental retardation and thin corpus callosum ClinVar Annotator: match by term: Gait disturbance | ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia, mental retardation and thin corpus callosum |
OMIM CTD ClinVar MouseDO |
PMID:2223744 PMID:2795747 PMID:3283541 PMID:9536098 PMID:16199547 PMID:16773502 PMID:17322883 PMID:17576681 PMID:17717710 PMID:18067136 PMID:18079167 PMID:18332254 PMID:18337587 PMID:18361476 PMID:18408091 PMID:18414213 PMID:18439221 PMID:18586399 PMID:18663179 PMID:18717728 PMID:18835492 PMID:19087158 PMID:19105190 PMID:19194956 PMID:19196735 PMID:19438933 PMID:19466474 PMID:19513778 PMID:19763152 PMID:19917823 PMID:20110243 PMID:20301389 PMID:20307669 PMID:20390432 PMID:20571989 PMID:20971220 PMID:21035867 PMID:21381113 PMID:21625935 PMID:21896784 PMID:22154821 PMID:22175763 PMID:22237444 PMID:22246010 PMID:22406018 PMID:22696581 PMID:22700954 PMID:23043354 PMID:23121729 PMID:23221952 PMID:23438842 PMID:23443022 PMID:23733235 PMID:23812641 PMID:23881933 PMID:24033266 PMID:24090761 PMID:24451228 PMID:24482476 PMID:24731568 PMID:24833714 PMID:25059394 PMID:25174650 PMID:25299611 PMID:25326635 PMID:25525159 PMID:25588603 PMID:25640679 PMID:25741868 PMID:25769290 PMID:26046366 PMID:26064709 PMID:26183056 PMID:26374131 PMID:26467025 PMID:26539891 PMID:26556829 PMID:26601740 PMID:26633542 PMID:26671123 PMID:26742954 PMID:26755014 PMID:27016404 PMID:27066562 PMID:27071356 PMID:27077743 PMID:27084228 PMID:27180005 PMID:27217339 PMID:27256065 PMID:27318863 PMID:27457812 PMID:27544499 PMID:27790088 PMID:27884173 PMID:27900367 PMID:27904835 PMID:27957547 PMID:28119845 PMID:28130640 PMID:28132690 PMID:28160950 PMID:28492532 PMID:28554332 PMID:28832565 PMID:28933964 PMID:28991695 PMID:29246610 PMID:29342275 PMID:29389947 PMID:29482223 PMID:29525178 PMID:29691679 PMID:29732542 PMID:29908077 PMID:29946510 PMID:29949766 PMID:29970488 PMID:29980238 PMID:30081747 PMID:30212743 PMID:30363882 PMID:30373780 PMID:30564185 PMID:30574063 PMID:30609409 PMID:30778698 PMID:31227335 PMID:31281085 PMID:31289639 PMID:31407473 PMID:31475037 PMID:31589614 PMID:31692161 PMID:31900114 PMID:32005694 PMID:32007496 PMID:32007754 PMID:32166880 PMID:32214227 PMID:32293029 PMID:32383541 PMID:32397312 PMID:32409511 PMID:32483926 PMID:32579787 PMID:32638105 PMID:32671691 PMID:32729724 PMID:32860008 PMID:32961396 PMID:32987860 PMID:32989326 PMID:33059505 PMID:33084218 PMID:33098801 PMID:33144682 PMID:33397523 PMID:33414559 PMID:33430805 PMID:33589474 PMID:33624863 PMID:33638609 PMID:33669240 PMID:33866115 PMID:34153142 PMID:34284285 PMID:34782662 PMID:34906502 PMID:35047667 PMID:35066644 PMID:35254204 PMID:35326432 PMID:35464835 PMID:35572931 PMID:35752680 PMID:35896380 PMID:35906604 PMID:36028943 PMID:36139378 PMID:37223130 PMID:37712079 More...
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NCBI chr 3:109,007,658...109,072,904
Ensembl chr 3:109,008,135...109,072,911
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Tbr1 |
T-box brain transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Gait disturbance |
ClinVar |
PMID:25741868 |
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NCBI chr 3:46,350,237...46,368,397
Ensembl chr 3:46,351,213...46,361,041
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Trim69 |
tripartite motif-containing 69 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:109,111,468...109,135,255
Ensembl chr 3:109,111,468...109,132,037
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Ppm1n |
protein phosphatase, Mg2+/Mn2+ dependent 1N |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 12 |
ClinVar |
PMID:25741868 |
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NCBI chr 1:78,929,350...78,934,435
Ensembl chr 1:78,929,351...78,932,685
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G |
Rtn2 |
reticulon 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 12 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:10677333 PMID:12427890 PMID:22232211 PMID:24123792 PMID:25741868 PMID:26467025 PMID:27165006 PMID:28492532 PMID:35684947 PMID:38527963 More...
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NCBI chr 1:78,935,056...78,948,069
Ensembl chr 1:78,935,104...78,948,069
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G |
Hspd1 |
heat shock protein family D (Hsp60) member 1 |
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ISO ISS |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 13 OMIM:605280 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD RGD |
PMID:10677329 PMID:12483302 PMID:17420924 PMID:18414213 PMID:18571143 PMID:22552817 PMID:24033266 PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:23466696 More...
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RGD:10402832 |
NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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G |
Zfyve26 |
zinc finger FYVE-type containing 26 |
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ISO ISS |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 15 | ClinVar Annotator: match by term: Recessive spastic paraplegia with retinal degeneration | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE OMIM:270700 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:6944241 PMID:9536098 PMID:11342696 PMID:16199547 PMID:17576681 PMID:17661097 PMID:18098276 PMID:18394578 PMID:19084844 PMID:19805727 PMID:19917823 PMID:23733235 PMID:24088041 PMID:24833714 PMID:25133958 PMID:25497598 PMID:25525159 PMID:25741868 PMID:26467025 PMID:26492578 PMID:26633545 PMID:27217339 PMID:27544497 PMID:28492532 PMID:28832565 PMID:29246610 PMID:29858556 PMID:30555096 PMID:31108397 PMID:31690835 PMID:37091313 More...
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NCBI chr 6:98,031,874...98,095,538
Ensembl chr 6:98,032,520...98,095,480
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G |
Bscl2 |
BSCL2 lipid droplet biogenesis associated, seipin |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant spastic paraplegia type 17 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 17 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1674639 PMID:5964029 PMID:11479539 PMID:14981520 PMID:15126564 PMID:15732094 PMID:16427281 PMID:16574104 PMID:17387721 PMID:17486577 PMID:18585921 PMID:18612770 PMID:18790819 PMID:19396477 PMID:20598714 PMID:20806400 PMID:21750110 PMID:21957196 PMID:22045697 PMID:22474068 PMID:23142943 PMID:23553728 PMID:24345054 PMID:24451228 PMID:24604904 PMID:25219579 PMID:25454168 PMID:25487175 PMID:25741868 PMID:25832430 PMID:26467025 PMID:26815532 PMID:26989944 PMID:27027447 PMID:27549087 PMID:27738760 PMID:27862672 PMID:28362824 PMID:28492532 PMID:29269637 PMID:31372974 PMID:31475473 PMID:32320108 PMID:34085946 PMID:34942918 More...
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NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
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G |
Son |
SON DNA and RNA binding protein |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 17 |
ClinVar |
PMID:25590979 PMID:25741868 PMID:25741875 PMID:27256762 PMID:27545676 PMID:27545680 PMID:28492532 PMID:34521999 More...
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NCBI chr11:30,850,890...30,923,167
Ensembl chr11:30,892,005...30,923,167
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G |
Erlin2 |
ER lipid raft associated 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 18 | ClinVar Annotator: match by term: Spastic paraplegia 18a, autosomal dominant CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:21330303 PMID:23109145 PMID:25741868 PMID:28492532 PMID:29528531 PMID:32094424 More...
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NCBI chr16:65,017,654...65,034,184
Ensembl chr16:65,018,532...65,033,671
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G |
Morf4l2 |
mortality factor 4 like 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 |
ClinVar |
PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 PMID:28492532 More...
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NCBI chr X:100,082,562...100,093,658
Ensembl chr X:100,082,404...100,093,728
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G |
Plp1 |
proteolipid protein 1 |
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ISO ISS |
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:312920 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:1047279 PMID:1384324 PMID:1720927 PMID:2479017 PMID:2480601 PMID:2773936 PMID:3827224 PMID:7488049 PMID:7522741 PMID:7531827 PMID:7539211 PMID:7539212 PMID:7539213 PMID:7679906 PMID:8012387 PMID:8320699 PMID:8659540 PMID:8723686 PMID:8786077 PMID:8956049 PMID:9056547 PMID:9106132 PMID:9247276 PMID:9427151 PMID:9489796 PMID:9536098 PMID:9633722 PMID:9634530 PMID:9934976 PMID:10319885 PMID:10319897 PMID:10401787 PMID:10417279 PMID:11093273 PMID:12601703 PMID:12910435 PMID:14452137 PMID:14745569 PMID:15450775 PMID:15712223 PMID:16199547 PMID:16287154 PMID:16380909 PMID:16778599 PMID:16844304 PMID:17438221 PMID:17576681 PMID:17962415 PMID:18160035 PMID:18414213 PMID:18470932 PMID:19328639 PMID:19825935 PMID:19955111 PMID:20022439 PMID:20301361 PMID:21679407 PMID:22016529 PMID:22101368 PMID:22343157 PMID:22695888 PMID:23344956 PMID:23347225 PMID:23771846 PMID:24088041 PMID:24139698 PMID:24519770 PMID:24575297 PMID:24890387 PMID:24936452 PMID:25491635 PMID:25741868 PMID:26125040 PMID:26467025 PMID:26633545 PMID:26786043 PMID:26795593 PMID:27179222 PMID:27535533 PMID:28286750 PMID:28366443 PMID:28492532 PMID:29451896 PMID:30104812 PMID:30195779 PMID:30337681 PMID:31110947 PMID:31448840 PMID:33450882 PMID:33504798 PMID:34782662 PMID:35012964 More...
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NCBI chr X:100,184,039...100,201,035
Ensembl chr X:100,185,767...100,201,032
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G |
Rab9b |
RAB9B, member RAS oncogene family |
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ISO |
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 |
ClinVar |
PMID:1047279 PMID:1384324 PMID:2479017 PMID:2480601 PMID:2773936 PMID:3827224 PMID:7488049 PMID:7522741 PMID:7531827 PMID:7539211 PMID:7539212 PMID:7679906 PMID:8012387 PMID:8320699 PMID:8723686 PMID:8786077 PMID:8956049 PMID:9056547 PMID:9106132 PMID:9247276 PMID:9427151 PMID:9489796 PMID:9536098 PMID:9634530 PMID:9934976 PMID:10319897 PMID:10401787 PMID:10417279 PMID:11093273 PMID:12601703 PMID:12910435 PMID:14452137 PMID:14745569 PMID:15450775 PMID:15712223 PMID:16199547 PMID:16287154 PMID:16380909 PMID:16778599 PMID:16844304 PMID:17438221 PMID:17576681 PMID:17962415 PMID:18160035 PMID:18414213 PMID:18470932 PMID:19328639 PMID:19825935 PMID:19955111 PMID:20022439 PMID:20301361 PMID:21679407 PMID:22016529 PMID:22101368 PMID:22343157 PMID:22695888 PMID:23344956 PMID:23347225 PMID:23771846 PMID:24088041 PMID:24139698 PMID:24519770 PMID:24575297 PMID:24890387 PMID:24936452 PMID:25491635 PMID:25741868 PMID:26125040 PMID:26467025 PMID:26633545 PMID:26786043 PMID:26795593 PMID:27179222 PMID:27535533 PMID:28286750 PMID:28366443 PMID:28492532 PMID:29451896 PMID:30104812 PMID:30195779 PMID:30337681 PMID:31110947 PMID:33450882 PMID:33504798 PMID:34782662 PMID:35012964 More...
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NCBI chr X:100,220,897...100,231,591
Ensembl chr X:100,220,894...100,231,701
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G |
Spast |
spastin |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 |
ClinVar |
PMID:25741868 |
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NCBI chr 6:21,055,349...21,106,586
Ensembl chr 6:21,055,349...21,107,954
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G |
Tceal1 |
transcription elongation factor A like 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 |
ClinVar |
PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 PMID:28492532 More...
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NCBI chr X:100,058,485...100,060,439
Ensembl chr X:100,058,132...100,060,551
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G |
Tceal3 |
transcription elongation factor A like 3 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 |
ClinVar |
PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 PMID:28492532 More...
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NCBI chr X:100,010,677...100,012,637
Ensembl chr X:100,010,690...100,012,654
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G |
Dstyk |
dual serine/threonine and tyrosine protein kinase |
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ISO |
ClinVar Annotator: match by term: DSTYK-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 23 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:17273976 PMID:23862974 PMID:25741868 PMID:27657687 PMID:28492532 PMID:28566479 PMID:33624863 More...
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NCBI chr13:43,857,266...43,905,280
Ensembl chr13:43,857,266...43,905,269
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G |
B4galnt1 |
beta-1,4-N-acetyl-galactosaminyl transferase 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 26 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23746551 PMID:25741868 PMID:28492532 PMID:28709807 PMID:29983310 PMID:30521973 PMID:31812852 PMID:32214227 More...
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NCBI chr 7:62,988,429...62,996,190
Ensembl chr 7:62,988,930...62,996,190
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G |
Bmp4 |
bone morphogenetic protein 4 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 28 |
ClinVar |
PMID:28492532 |
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NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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G |
Ddhd1 |
DDHD domain containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary spastic paraplegia 28 |
OMIM CTD ClinVar |
PMID:9536098 PMID:15786464 PMID:17576681 PMID:23176821 PMID:24989667 PMID:25741868 PMID:26944165 PMID:27216551 PMID:27999540 PMID:28492532 PMID:28818478 More...
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NCBI chr15:18,824,389...18,891,036
Ensembl chr15:18,824,394...18,890,952
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G |
Agxt |
alanine--glyoxylate aminotransferase |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336
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G |
Ankmy1 |
ankyrin repeat and MYND domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:93,423,664...93,476,651
Ensembl chr 9:93,423,963...93,477,236
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G |
Ano7 |
anoctamin 7 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:93,917,524...93,945,323
Ensembl chr 9:93,917,524...93,945,323
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G |
Aqp12a |
aquaporin 12A |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:93,554,527...93,560,011
Ensembl chr 9:93,554,527...93,560,011
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G |
Asb1 |
ankyrin repeat and SOCS box-containing 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:92,120,332...92,140,790
Ensembl chr 9:92,120,306...92,136,376
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G |
Atg4b |
autophagy related 4B, cysteine peptidase |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:94,282,417...94,314,109
Ensembl chr 9:94,282,509...94,314,103
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G |
Bok |
BCL2 family apoptosis regulator BOK |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:94,223,493...94,234,476
Ensembl chr 9:94,223,389...94,234,476
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G |
Capn10 |
calpain 10 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:93,498,132...93,510,494
Ensembl chr 9:93,498,478...93,510,494
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G |
Col6a3 |
collagen type VI alpha 3 chain |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
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G |
Cops9 |
COP9 signalosome subunit 9 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:93,209,843...93,214,774
Ensembl chr 9:93,209,843...93,213,317
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G |
D2hgdh |
D-2-hydroxyglutarate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:94,350,555...94,368,384
Ensembl chr 9:94,350,576...94,368,382
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G |
Dtymk |
deoxythymidylate kinase |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:94,315,552...94,324,386
Ensembl chr 9:94,315,552...94,324,870
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G |
Dusp28 |
dual specificity phosphatase 28 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:93,472,832...93,474,207
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G |
Erfe |
erythroferrone |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:91,956,971...91,964,846
Ensembl chr 9:91,956,977...91,964,846
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G |
Espnl |
espin-like |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:91,912,038...91,936,803
Ensembl chr 9:91,912,049...91,935,292
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G |
Farp2 |
FERM, ARH/RhoGEF and pleckstrin domain protein 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:94,053,650...94,161,982
Ensembl chr 9:94,053,726...94,162,212
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G |
Gal3st2 |
galactose-3-O-sulfotransferase 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 9:94,382,456...94,387,990
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G |
Gpc1 |
glypican 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 |