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G
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Abcd1
|
ATP binding cassette subfamily D member 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:23184456 PMID:23409742 PMID:23660394 PMID:24365856 PMID:24962355 PMID:26471271 PMID:28492532 PMID:29334594 PMID:35384376 More...
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|
NCBI chrNW_004936809:615,133...634,618
Ensembl chrNW_004936809:615,139...635,990
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|
G
|
Abhd16a
|
abhydrolase domain containing 16A, phospholipase
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|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:25741868 PMID:34587489 |
|
NCBI chrNW_004936727:1,828,966...1,843,334
Ensembl chrNW_004936727:1,828,905...1,844,967
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G
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Adam9
|
ADAM metallopeptidase domain 9
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936710:2,301,470...2,388,533
Ensembl chrNW_004936710:2,301,730...2,387,695
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G
|
Adgra2
|
adhesion G protein-coupled receptor A2
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936710:1,258,088...1,296,346
Ensembl chrNW_004936710:1,257,931...1,298,885
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G
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Adrb3
|
adrenoceptor beta 3
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936710:1,410,589...1,413,279
Ensembl chrNW_004936710:1,411,446...1,413,098
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|
G
|
Agap2
|
ArfGAP with GTPase domain, ankyrin repeat and PH domain 2
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|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:1,865,154...1,881,614
Ensembl chrNW_004936646:1,865,395...1,876,453
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|
G
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Akt1
|
AKT serine/threonine kinase 1
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|
ISO
|
mRNA:decreased expression:soleus
|
RGD |
PMID:18236467 |
RGD:5509082 |
NCBI chrNW_004936621:620,163...639,115
Ensembl chrNW_004936621:620,074...639,093
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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...
|
|
NCBI chrNW_004936690:2,255,159...2,265,833
Ensembl chrNW_004936690:2,255,159...2,265,847
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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...
|
|
NCBI chrNW_004936471:12,857,259...12,919,615
Ensembl chrNW_004936471:12,857,323...12,916,718
|
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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:29473051 PMID:31359954 PMID:31915823 PMID:32979048 PMID:32989326 PMID:36371792 More...
|
|
NCBI chrNW_004936543:246,335...250,278
Ensembl chrNW_004936543:246,335...254,975
|
|
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...
|
|
NCBI chrNW_004936494:5,720,474...5,758,888
|
|
G
|
Ap5z1
|
adaptor related protein complex 5 subunit zeta 1
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936765:1,112,333...1,123,244
Ensembl chrNW_004936765:1,111,882...1,123,316
|
|
G
|
Aqp3
|
aquaporin 3 (Gill blood group)
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:1,963,427...1,969,977
Ensembl chrNW_004936524:1,963,247...1,969,998
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|
G
|
Arf1
|
ARF GTPase 1
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:18094336 PMID:23462291 PMID:25971455 PMID:27785568 PMID:28492532 PMID:28671726 More...
|
|
NCBI chrNW_004936864:117,510...119,612
|
|
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...
|
|
NCBI chrNW_004936809:791,275...807,448
Ensembl chrNW_004936809:791,274...807,450
|
|
G
|
Arhgap5
|
Rho GTPase activating protein 5
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:21620353 PMID:25552650 PMID:27444738 PMID:28492532 |
|
NCBI chrNW_004936494:6,562,092...6,624,015
Ensembl chrNW_004936494:6,562,069...6,623,175
|
|
G
|
Arhgap9
|
Rho GTPase activating protein 9
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:1,629,814...1,637,535
Ensembl chrNW_004936646:1,630,029...1,638,571
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|
G
|
Arhgef25
|
Rho guanine nucleotide exchange factor 25
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:1,754,803...1,762,996
Ensembl chrNW_004936646:1,754,727...1,764,544
|
|
G
|
Arhgef39
|
Rho guanine nucleotide exchange factor 39
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:3,660,364...3,663,664
Ensembl chrNW_004936524:3,660,454...3,663,696
|
|
G
|
Arid3c
|
AT-rich interaction domain 3C
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:2,705,112...2,711,557
Ensembl chrNW_004936524:2,705,121...2,711,557
|
|
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...
|
|
NCBI chrNW_004936471:14,334,667...14,353,131
|
|
G
|
Arsi
|
arylsulfatase family member I
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:25741868 PMID:28492532 PMID:28832565 |
|
NCBI chrNW_004936504:4,624,949...4,631,482
Ensembl chrNW_004936504:4,624,945...4,631,487
|
|
G
|
Ash2l
|
ASH2 like, histone lysine methyltransferase complex subunit
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936710:1,489,483...1,519,469
Ensembl chrNW_004936710:1,489,522...1,518,849
|
|
G
|
Atg7
|
autophagy related 7
|
|
ISO
|
|
RGD |
PMID:23055316 |
RGD:11557990 |
NCBI chrNW_004936602:1,938,720...2,179,239
Ensembl chrNW_004936602:1,935,507...2,179,256
|
|
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:31216405 PMID:31630374 PMID:32581362 More...
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|
NCBI chrNW_004936495:14,984,761...15,053,188
Ensembl chrNW_004936495:14,984,336...15,040,597
|
|
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...
|
|
NCBI chrNW_004936471:14,362,597...14,454,529
Ensembl chrNW_004936471:14,362,187...14,453,193
|
|
G
|
Atosb
|
atos homolog B
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:3,133,288...3,144,726
Ensembl chrNW_004936524:3,133,288...3,140,193
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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...
|
|
NCBI chrNW_004936809:396,883...466,372
Ensembl chrNW_004936809:396,733...466,524
|
|
G
|
Atp5f1b
|
ATP synthase F1 subunit beta
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:951,236...958,907
Ensembl chrNW_004936646:951,009...959,516
|
|
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...
|
|
NCBI chrNW_004936809:1,179,507...1,188,172
Ensembl chrNW_004936809:1,179,464...1,188,283
|
|
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...
|
|
NCBI chrNW_004936809:789,337...790,986
Ensembl chrNW_004936809:788,286...790,954
|
|
G
|
B4galnt1
|
beta-1,4-N-acetyl-galactosaminyltransferase 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 chrNW_004936646:1,770,412...1,777,152
Ensembl chrNW_004936646:1,770,930...1,777,173
|
|
G
|
Bag4
|
BAG cochaperone 4
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936710:1,551,729...1,575,393
Ensembl chrNW_004936710:1,551,738...1,575,393
|
|
G
|
Baz2a
|
bromodomain adjacent to zinc finger domain 2A
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:914,944...949,057
Ensembl chrNW_004936646:914,818...949,101
|
|
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...
|
|
NCBI chrNW_004936809:582,689...614,800
Ensembl chrNW_004936809:582,649...615,079
|
|
G
|
Bcar1
|
BCAR1 scaffold protein, Cas family member
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936475:23,994,130...24,032,829
Ensembl chrNW_004936475:23,992,193...24,033,031
|
|
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...
|
|
NCBI chrNW_004936471:13,943,600...13,946,085
|
|
G
|
Becn1
|
beclin 1
|
|
ISO
|
protein:increased expression:soleus muscle
|
RGD |
PMID:23055316 |
RGD:11557990 |
NCBI chrNW_004936490:17,518,100...17,531,126
Ensembl chrNW_004936490:17,517,751...17,531,151
|
|
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...
|
|
NCBI chrNW_004936809:375,589...389,718
Ensembl chrNW_004936809:375,543...389,756
|
|
G
|
Bicd2
|
BICD cargo adaptor 2
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:25741868 PMID:26998597 PMID:28492532 |
|
NCBI chrNW_004936487:2,287,736...2,335,674
Ensembl chrNW_004936487:2,255,882...2,335,731
|
|
G
|
Birc6
|
baculoviral IAP repeat containing 6
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
|
|
NCBI chrNW_004936493:903,295...1,115,434
Ensembl chrNW_004936493:899,961...1,115,493
|
|
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...
|
|
NCBI chrNW_004936927:341,114...380,817
Ensembl chrNW_004936927:341,253...376,700
|
|
G
|
Brf2
|
BRF2 general transcription factor IIIB subunit
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936710:1,296,475...1,301,752
Ensembl chrNW_004936710:1,293,129...1,301,048
|
|
G
|
Ca9
|
carbonic anhydrase 9
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:3,672,393...3,678,630
Ensembl chrNW_004936524:3,672,541...3,678,433
|
|
G
|
Ccdc107
|
coiled-coil domain containing 107
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:3,657,094...3,659,851
Ensembl chrNW_004936524:3,657,170...3,659,821
|
|
G
|
Ccin
|
calicin
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:4,143,238...4,145,183
Ensembl chrNW_004936524:4,143,347...4,145,113
|
|
G
|
Ccl19
|
C-C motif chemokine ligand 19
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:2,765,271...2,767,259
Ensembl chrNW_004936524:2,765,267...2,767,385
|
|
G
|
Ccl21
|
C-C motif chemokine ligand 21
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:2,787,963...2,789,116
Ensembl chrNW_004936524:2,788,341...2,789,016
|
|
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 chrNW_004936524:2,743,106...2,743,759
Ensembl chrNW_004936524:2,743,068...2,743,746
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G
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Ccnq
|
cyclin Q
|
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ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
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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 chrNW_004936809:471,619...482,296
Ensembl chrNW_004936809:472,061...482,192
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G
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Cd72
|
CD72 molecule
|
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ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
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ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chrNW_004936524:3,620,464...3,629,065
Ensembl chrNW_004936524:3,620,912...3,629,065
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G
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Cdk4
|
cyclin dependent kinase 4
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ISO
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ClinVar Annotator: match by term: Spastic paraplegia
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936646:1,886,262...1,889,260
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G
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Cfdp1
|
craniofacial development protein 1
|
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ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936475:24,053,558...24,164,674
Ensembl chrNW_004936475:24,052,963...24,164,679
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G
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Cimip2b
|
ciliary microtubule inner protein 2B
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ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
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ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chrNW_004936524:3,594,530...3,597,055
Ensembl chrNW_004936524:3,594,552...3,596,371
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G
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Clic2
|
chloride intracellular channel 2
|
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ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
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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 chrNW_004936927:514,989...543,691
Ensembl chrNW_004936927:514,899...543,693
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G
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Clta
|
clathrin light chain A
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:4,170,425...4,191,951
Ensembl chrNW_004936524:4,169,732...4,191,951
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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 chrNW_004936927:317,417...341,016
Ensembl chrNW_004936927:320,833...341,021
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G
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Cntfr
|
ciliary neurotrophic factor receptor
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|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
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ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:2,636,166...2,674,488
Ensembl chrNW_004936524:2,636,166...2,674,192
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|
G
|
Coch
|
cochlin
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:21620353 PMID:25552650 PMID:27444738 PMID:28492532 |
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NCBI chrNW_004936494:5,617,201...5,633,500
Ensembl chrNW_004936494:5,617,016...5,633,083
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G
|
Cpt1c
|
carnitine palmitoyltransferase 1C
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
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ClinVar |
PMID:25741868 |
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NCBI chrNW_004936664:3,505,146...3,526,286
Ensembl chrNW_004936664:3,505,106...3,529,678
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|
G
|
Creb3
|
cAMP responsive element binding protein 3
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:3,727,104...3,730,962
Ensembl chrNW_004936524:3,727,098...3,730,975
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G
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CUNH1orf35
|
chromosome unknown C1orf35 homolog
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
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ClinVar |
PMID:18094336 PMID:23462291 PMID:25971455 PMID:27785568 PMID:28492532 PMID:28671726 More...
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NCBI chrNW_004936864:113,303...116,785
Ensembl chrNW_004936864:114,316...118,428
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G
|
Dcaf12
|
DDB1 and CUL4 associated factor 12
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:2,239,972...2,272,885
Ensembl chrNW_004936524:2,238,602...2,273,349
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|
G
|
Dctn2
|
dynactin subunit 2
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:1,678,678...1,695,142
Ensembl chrNW_004936646:1,678,678...1,695,142
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|
G
|
Dctn3
|
dynactin subunit 3
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:2,696,096...2,704,162
Ensembl chrNW_004936524:2,696,053...2,704,213
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|
G
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Ddhd2
|
DDHD domain containing 2
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936710:1,593,899...1,616,572
Ensembl chrNW_004936710:1,593,946...1,618,828
|
|
G
|
Ddit3
|
DNA damage inducible transcript 3
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:1,665,019...1,669,212
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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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|
NCBI chrNW_004936927:134,770...144,057
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|
G
|
Dmxl2
|
Dmx like 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 chrNW_004936471:13,330,870...13,483,610
Ensembl chrNW_004936471:13,329,622...13,483,937
|
|
G
|
Dnai1
|
dynein axonemal intermediate chain 1
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:2,551,431...2,614,245
Ensembl chrNW_004936524:2,572,956...2,614,026
|
|
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 chrNW_004936524:3,038,489...3,047,546
Ensembl chrNW_004936524:3,039,183...3,048,803
|
|
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...
|
|
NCBI chrNW_004936809:1,151,312...1,159,017
Ensembl chrNW_004936809:1,151,202...1,159,029
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|
G
|
Dpy30
|
dpy-30 histone methyltransferase complex regulatory subunit
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
|
|
NCBI chrNW_004936493:1,378,104...1,390,414
Ensembl chrNW_004936493:1,377,682...1,391,102
|
|
G
|
Dtd2
|
D-aminoacyl-tRNA deacylase 2
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:21620353 PMID:25552650 PMID:27444738 PMID:28492532 |
|
NCBI chrNW_004936494:6,047,857...6,057,185
|
|
G
|
Dtx3
|
deltex E3 ubiquitin ligase 3
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:1,749,061...1,754,399
Ensembl chrNW_004936646:1,751,387...1,754,353
|
|
G
|
Dusp9
|
dual specificity phosphatase 9
|
|
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 chrNW_004936809:535,434...538,219
Ensembl chrNW_004936809:535,434...539,319
|
|
G
|
Eef1akmt3
|
EEF1A lysine methyltransferase 3
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:1,908,581...1,917,376
Ensembl chrNW_004936646:1,908,619...1,917,330
|
|
G
|
Egr2
|
early growth response 2
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
|
|
NCBI chrNW_004936753:1,958,250...1,962,640
Ensembl chrNW_004936753:1,958,264...1,962,640
|
|
G
|
Eif4ebp1
|
eukaryotic translation initiation factor 4E binding protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936710:1,446,030...1,461,945
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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 chrNW_004936809:1,127,701...1,130,195
Ensembl chrNW_004936809:1,127,710...1,130,195
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|
G
|
Enho
|
energy homeostasis associated
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:2,614,299...2,616,073
Ensembl chrNW_004936524:2,614,299...2,616,073
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|
G
|
Erlin2
|
ER lipid raft associated 2
|
|
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:29528531 PMID:32042907 PMID:32094424 PMID:32147972 PMID:33397523 PMID:33810837 PMID:34734492 PMID:38427163 PMID:38607533 More...
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|
NCBI chrNW_004936710:1,193,679...1,210,059
Ensembl chrNW_004936710:1,193,411...1,210,739
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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 chrNW_004936927:189,359...301,791
Ensembl chrNW_004936927:190,111...301,609
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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 chrNW_004936927:234,162...236,881
|
|
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:21592092 PMID:22965561 PMID:23566484 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:27884168 PMID:27957547 PMID:28017243 PMID:28492532 PMID:29376581 PMID:29423566 PMID:29980238 PMID:30446360 PMID:30532373 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 PMID:36109173 PMID:37410270 PMID:37573804 PMID:38127101 More...
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|
NCBI chrNW_004936475:23,625,023...23,675,211
Ensembl chrNW_004936475:23,624,969...23,675,235
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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 |
|
NCBI chrNW_004936524:2,494,954...2,550,992
Ensembl chrNW_004936524:2,492,634...2,551,147
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|
G
|
Fam3a
|
FAM3 metabolism regulating signaling molecule 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...
|
|
NCBI chrNW_004936809:1,248,865...1,258,894
Ensembl chrNW_004936809:1,249,823...1,258,860
|
|
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...
|
|
NCBI chrNW_004936809:1,195,479...1,202,126
|
|
G
|
Fancg
|
FA complementation group G
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:3,103,912...3,110,246
Ensembl chrNW_004936524:3,104,176...3,109,779
|
|
G
|
Fgfr1
|
fibroblast growth factor receptor 1
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936710:1,760,365...1,815,269
Ensembl chrNW_004936710:1,760,089...1,815,508
|
|
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...
|
|
NCBI chrNW_004936809:1,097,288...1,123,206
Ensembl chrNW_004936809:1,097,294...1,123,201
|
|
G
|
Foxo4
|
forkhead box O4
|
|
ISO
|
protein:increased expression:skeletal muscle:
|
RGD |
PMID:18236467 |
RGD:5509082 |
NCBI chrNW_004936762:495,271...501,278
Ensembl chrNW_004936762:493,910...501,531
|
|
G
|
Fundc2
|
FUN14 domain containing 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...
|
|
NCBI chrNW_004936927:304,162...318,271
Ensembl chrNW_004936927:304,197...318,271
|
|
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 |
|
NCBI chrNW_004936494:5,352,126...5,409,648
Ensembl chrNW_004936494:5,352,238...5,409,739
|
|
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 chrNW_004936809:1,269,900...1,285,853
Ensembl chrNW_004936809:1,269,914...1,285,889
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G
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Gab3
|
GRB2 associated binding protein 3
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ISO
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ClinVar Annotator: match by term: Spastic paraplegia
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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 chrNW_004936927:68,506...93,899
Ensembl chrNW_004936927:70,923...124,164
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G
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Galt
|
galactose-1-phosphate uridylyltransferase
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ISO
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ClinVar Annotator: match by term: Spastic paraplegia
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ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chrNW_004936524:2,726,795...2,730,049
Ensembl chrNW_004936524:2,726,749...2,730,564
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G
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Gba2
|
glucosylceramidase beta 2
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ISO
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ClinVar Annotator: match by term: Spastic paraplegia
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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:33956305 PMID:34234304 PMID:34251556 PMID:34782662 PMID:39825153 More...
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NCBI chrNW_004936524:3,730,833...3,742,526
Ensembl chrNW_004936524:3,730,833...3,742,531
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G
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Gdi1
|
GDP dissociation inhibitor 1
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ISO
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ClinVar Annotator: match by term: Spastic paraplegia
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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 chrNW_004936809:1,188,793...1,194,816
Ensembl chrNW_004936809:1,188,628...1,194,863
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G
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Gjc2
|
gap junction protein gamma 2
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ISO
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ClinVar Annotator: match by term: Spastic paraplegia
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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:34532947 PMID:35442562 PMID:35807022 PMID:37267771 More...
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NCBI chrNW_004936864:67,608...71,543
Ensembl chrNW_004936864:69,445...70,752
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G
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Gldn
|
gliomedin
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ISO
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ClinVar Annotator: match by term: Spastic paraplegia
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ClinVar |
PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 PMID:30732576 PMID:31688942 More...
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NCBI chrNW_004936471:13,234,478...13,294,306
Ensembl chrNW_004936471:13,234,478...13,292,323
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G
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Glg1
|
golgi glycoprotein 1
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ISO
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ClinVar Annotator: match by term: Spastic paraplegia
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936475:23,411,194...23,534,692
Ensembl chrNW_004936475:23,411,188...23,534,724
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G
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Gli1
|
GLI family zinc finger 1
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ISO
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ClinVar Annotator: match by term: Spastic paraplegia
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936646:1,622,308...1,629,787
Ensembl chrNW_004936646:1,622,308...1,629,779
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G
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Glipr2
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GLI pathogenesis related 2
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ISO
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ClinVar Annotator: match by term: Spastic paraplegia
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ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chrNW_004936524:4,118,964...4,139,901
Ensembl chrNW_004936524:4,118,697...4,139,942
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G
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Gls2
|
glutaminase 2
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ISO
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ClinVar Annotator: match by term: Spastic paraplegia
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936646:825,957...842,184
Ensembl chrNW_004936646:823,682...842,199
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G
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Gnb5
|
G protein subunit beta 5
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ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
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ClinVar |
PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 PMID:30732576 PMID:31688942 More...
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NCBI chrNW_004936471:13,952,462...14,001,663
Ensembl chrNW_004936471:13,955,991...13,997,073
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G
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Gne
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
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ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
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ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chrNW_004936524:4,184,831...4,234,257
Ensembl chrNW_004936524:4,196,830...4,252,163
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G
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Got1l1
|
glutamic-oxaloacetic transaminase 1 like 1
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ISO
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ClinVar Annotator: match by term: Spastic paraplegia
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936710:1,388,743...1,393,791
Ensembl chrNW_004936710:1,388,743...1,393,758
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G
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Gpr182
|
G protein-coupled receptor 182
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|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936646:1,210,711...1,212,746
Ensembl chrNW_004936646:1,210,757...1,212,425
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G
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Gpr33
|
G protein-coupled receptor 33
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ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
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ClinVar |
PMID:21620353 PMID:25552650 PMID:27444738 PMID:28492532 |
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NCBI chrNW_004936494:6,074,140...6,078,747
Ensembl chrNW_004936494:6,074,140...6,078,747
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G
|
Grhpr
|
glyoxylate and hydroxypyruvate reductase
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|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
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ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chrNW_004936524:5,208,793...5,219,555
Ensembl chrNW_004936524:5,208,492...5,219,970
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G
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Guk1
|
guanylate kinase 1
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|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
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ClinVar |
PMID:18094336 PMID:23462291 PMID:25971455 PMID:27785568 PMID:28492532 PMID:28671726 More...
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NCBI chrNW_004936864:76,707...86,479
Ensembl chrNW_004936864:76,128...79,520
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G
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Haus7
|
HAUS augmin like complex subunit 7
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|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
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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 chrNW_004936809:321,906...350,105
Ensembl chrNW_004936809:321,497...350,110
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G
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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 chrNW_004936809:827,008...853,689
Ensembl chrNW_004936809:827,031...853,644
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G
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Heatr5a
|
HEAT repeat containing 5A
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|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
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ClinVar |
PMID:21620353 PMID:25552650 PMID:27444738 PMID:28492532 |
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NCBI chrNW_004936494:5,902,543...6,024,106
Ensembl chrNW_004936494:5,903,892...6,008,582
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G
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Hectd1
|
HECT domain E3 ubiquitin protein ligase 1
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|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
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ClinVar |
PMID:21620353 PMID:25552650 PMID:27444738 PMID:28492532 |
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NCBI chrNW_004936494:5,761,801...5,853,673
Ensembl chrNW_004936494:5,758,347...5,851,952
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G
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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 chrNW_004936474:26,481,300...26,483,143
Ensembl chrNW_004936474:26,481,883...26,482,998
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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 |
|
NCBI chrNW_004936524:3,912,344...3,913,231
Ensembl chrNW_004936524:3,912,416...3,912,796
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G
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Hsd17b10
|
hydroxysteroid 17-beta dehydrogenase 10
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|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936751:399,743...402,200
Ensembl chrNW_004936751:399,701...402,344
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G
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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
|
ClinVar |
PMID:9536098 PMID:17072495 PMID:17420924 PMID:17576681 PMID:18414213 PMID:19423133 PMID:19494379 PMID:22552817 PMID:24033266 PMID:25326637 PMID:25341883 PMID:25741868 PMID:26467025 PMID:27251275 PMID:27630992 PMID:28492532 PMID:28832565 PMID:32433464 PMID:32570879 More...
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|
NCBI chrNW_004936506:1,678,069...1,687,632
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G
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Htra4
|
HtrA serine peptidase 4
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936710:2,280,804...2,292,399
Ensembl chrNW_004936710:2,280,714...2,292,468
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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 chrNW_004936864:50,033...63,540
Ensembl chrNW_004936864:49,889...63,481
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G
|
Idh3g
|
isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
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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 chrNW_004936809:666,231...675,279
Ensembl chrNW_004936809:666,337...675,214
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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 chrNW_004936809:1,280,254...1,306,964
Ensembl chrNW_004936809:1,257,654...1,301,813
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G
|
Il11ra
|
interleukin 11 receptor subunit alpha
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ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:2,732,477...2,743,044
Ensembl chrNW_004936524:2,735,507...2,742,660
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G
|
Il23a
|
interleukin 23 subunit alpha
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|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
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ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:743,630...745,998
Ensembl chrNW_004936646:743,688...745,836
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G
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Inhbc
|
inhibin subunit beta C
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:1,603,276...1,610,051
Ensembl chrNW_004936646:1,603,276...1,610,051
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G
|
Inhbe
|
inhibin subunit beta E
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:1,614,902...1,616,482
Ensembl chrNW_004936646:1,614,745...1,616,279
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G
|
Iqsec2
|
IQ motif and Sec7 domain ArfGEF 2
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936751:210,800...294,358
Ensembl chrNW_004936751:210,761...294,399
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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 chrNW_004936809:891,407...900,311
Ensembl chrNW_004936809:890,717...900,326
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G
|
Kdm5c
|
lysine demethylase 5C
|
|
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 chrNW_004936751:159,628...204,136
Ensembl chrNW_004936751:167,920...203,966
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G
|
Kif1a
|
kinesin family member 1A
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21820098 PMID:24088041 PMID:25265257 PMID:25326635 PMID:25741868 PMID:26125038 PMID:26354034 PMID:26467025 PMID:26633545 PMID:28492532 PMID:28554332 PMID:28834584 PMID:31455732 PMID:31488895 PMID:32737135 PMID:32935419 PMID:33880452 PMID:34630504 PMID:34983064 PMID:35303589 PMID:35322241 PMID:39825153 More...
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|
NCBI chrNW_004936745:911,651...976,878
Ensembl chrNW_004936745:911,709...974,199
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G
|
Kif24
|
kinesin family member 24
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:2,375,133...2,417,096
Ensembl chrNW_004936524:2,375,981...2,417,096
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|
G
|
Kif5a
|
kinesin family member 5A
|
|
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:21107874 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:27463701 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:31108397 PMID:31211173 PMID:31403080 PMID:31404076 PMID:31422367 PMID:31475037 PMID:31612903 PMID:31827005 PMID:32501971 PMID:32579787 PMID:32815063 PMID:32888732 PMID:33059505 PMID:33155544 PMID:33208543 PMID:33310205 PMID:33589474 PMID:33829936 PMID:34354735 PMID:34544842 PMID:34715294 PMID:34983064 PMID:35303589 PMID:35578252 PMID:35896380 PMID:36139378 PMID:37524782 PMID:37926714 PMID:39825153 More...
|
|
NCBI chrNW_004936646:1,697,531...1,730,376
Ensembl chrNW_004936646:1,697,492...1,732,832
|
|
G
|
L1cam
|
L1 cell adhesion molecule
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
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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:9643285 PMID:9744477 PMID:10469653 PMID:10480214 PMID:10632110 PMID:10767310 PMID:10797421 PMID:10805190 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:25039760 PMID:25644381 PMID:25666757 PMID:25741868 PMID:25934484 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:33057194 PMID:33196764 PMID:34510796 PMID:35088901 PMID:35384376 PMID:35982159 More...
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NCBI chrNW_004936809:736,385...768,822
Ensembl chrNW_004936809:736,319...761,973
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G
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Lage3
|
L antigen family member 3
|
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ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
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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 chrNW_004936809:1,229,933...1,232,448
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G
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Ldhd
|
lactate dehydrogenase D
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ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936475:23,920,204...23,923,846
Ensembl chrNW_004936475:23,916,584...23,923,886
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G
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Leo1
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LEO1 homolog, Paf1/RNA polymerase II complex component
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ISO
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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 chrNW_004936471:13,753,061...13,783,990
Ensembl chrNW_004936471:13,753,030...13,784,049
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G
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Letm2
|
leucine zipper and EF-hand containing transmembrane protein 2
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ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
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ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936710:1,736,010...1,758,480
Ensembl chrNW_004936710:1,736,721...1,758,693
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G
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LOC101954950
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aromatase
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ISO
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ClinVar Annotator: match by term: Spastic paraplegia
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ClinVar |
PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 PMID:30732576 PMID:31688942 More...
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NCBI chrNW_004936471:13,107,603...13,136,910
Ensembl chrNW_004936471:13,107,603...13,136,910
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G
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LOC101955077
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cytochrome P450 7B1
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ISO
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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:27084228 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:30799092 PMID:31227335 PMID:31407473 PMID:31589614 PMID:31692161 PMID:31980526 PMID:32202070 PMID:33160247 PMID:34234304 PMID:34426522 PMID:34782662 PMID:34983064 PMID:35464835 PMID:35578252 PMID:37712079 More...
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NCBI chrNW_004936496:8,900,320...9,072,109
Ensembl chrNW_004936496:8,899,965...9,072,089
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G
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LOC101958294
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histidine triad nucleotide-binding protein 2, mitochondrial
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ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:3,807,426...3,816,391
Ensembl chrNW_004936524:3,807,494...3,813,535 Ensembl chrNW_004936524:3,807,494...3,813,535
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|
G
|
LOC101958515
|
apolipoprotein F
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:764,689...766,265
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G
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LOC101962737
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obscurin
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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 chrNW_004936864:619...33,574
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|
G
|
LOC101963615
|
thiamine transporter 2
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936525:8,323,550...8,339,686
Ensembl chrNW_004936525:8,322,602...8,340,082
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|
G
|
LOC101965278
|
retinol dehydrogenase 16
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:1,195,200...1,200,778
Ensembl chrNW_004936646:1,194,547...1,200,897
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|
G
|
LOC101966958
|
GATOR complex protein WDR59
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936475:23,754,525...23,803,942
Ensembl chrNW_004936475:23,726,314...23,803,854
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G
|
LOC101967165
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histone H2A-Bbd type 2/3
|
|
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 chrNW_004936927:232,353...232,857
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|
G
|
LOC101973126
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cytochrome P450 2U1
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|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:615030 PMID:14660610 PMID:16199547 PMID:16783378 PMID:20301718 PMID:21735565 PMID:23176821 PMID:25558065 PMID:25741868 PMID:26914923 PMID:26936192 PMID:27292318 PMID:28120039 PMID:28492532 PMID:28600779 PMID:29034544 PMID:29761117 PMID:33107650 PMID:35499206 PMID:36166872 More...
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NCBI chrNW_004936818:650,593...672,349
Ensembl chrNW_004936818:650,589...672,355
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|
G
|
LOC101978323
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25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial
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|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:1,899,686...1,904,104
Ensembl chrNW_004936646:1,900,259...1,904,104
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G
|
Lrp1
|
LDL receptor related protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:1,326,900...1,407,236
Ensembl chrNW_004936646:1,327,374...1,406,456
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|
G
|
Lsm1
|
LSM1 homolog, mRNA degradation associated
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936710:1,546,027...1,551,685
Ensembl chrNW_004936710:1,545,790...1,552,394
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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 chrNW_004936471:13,555,166...13,570,268
Ensembl chrNW_004936471:13,555,157...13,562,256
|
|
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 chrNW_004936471:13,849,169...13,879,595
|
|
G
|
Marchf9
|
membrane associated ring-CH-type finger 9
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:1,893,237...1,896,577
Ensembl chrNW_004936646:1,873,643...1,896,051
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|
G
|
Mars1
|
methionyl-tRNA synthetase 1
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:1,644,457...1,665,081
Ensembl chrNW_004936646:1,644,457...1,665,086
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|
G
|
Mbd6
|
methyl-CpG binding domain protein 6
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:1,669,281...1,678,512
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|
G
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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 chrNW_004936809:902,938...967,771
Ensembl chrNW_004936809:911,764...966,839
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|
G
|
Melk
|
maternal embryonic leucine zipper kinase
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:4,479,639...4,544,561
Ensembl chrNW_004936524:4,469,256...4,544,290
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G
|
Mettl1
|
methyltransferase 1, tRNA methylguanosine
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:1,905,063...1,908,968
Ensembl chrNW_004936646:1,904,599...1,908,545
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G
|
Mip
|
major intrinsic protein of lens fiber
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:806,467...811,676
Ensembl chrNW_004936646:807,856...811,729
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G
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Mipep
|
mitochondrial intermediate peptidase
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936688:1,592,810...1,736,896
Ensembl chrNW_004936688:1,592,821...1,737,282
|
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G
|
Mlkl
|
mixed lineage kinase domain like pseudokinase
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|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936475:23,591,483...23,618,152
Ensembl chrNW_004936475:23,591,493...23,618,660
|
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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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|
NCBI chrNW_004936927:147,448...170,435
Ensembl chrNW_004936927:147,282...170,575
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G
|
Mrpl55
|
mitochondrial ribosomal protein L55
|
|
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 chrNW_004936864:108,645...111,838
|
|
G
|
Msmp
|
microseminoprotein, prostate associated
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:3,746,426...3,751,124
Ensembl chrNW_004936524:3,746,502...3,747,525
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G
|
Mtcp1
|
mature T cell proliferation 1
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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 chrNW_004936927:334,017...341,016
Ensembl chrNW_004936927:334,894...341,072
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|
G
|
Mtm1
|
myotubularin 1
|
|
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 chrNW_004936714:1,792,893...1,870,338
Ensembl chrNW_004936714:1,792,845...1,870,389
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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 chrNW_004936558:1,470,781...1,482,885
Ensembl chrNW_004936558:1,470,775...1,483,344
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|
G
|
Myo1a
|
myosin IA
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:1,238,630...1,258,491
Ensembl chrNW_004936646:1,238,865...1,258,040
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|
G
|
Myo5a
|
myosin VA
|
|
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 chrNW_004936471:14,105,832...14,257,386
Ensembl chrNW_004936471:14,111,841...14,254,246
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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...
|
|
NCBI chrNW_004936471:14,003,478...14,094,560
Ensembl chrNW_004936471:14,003,515...14,094,587
|
|
G
|
Myorg
|
myogenesis regulating glycosidase (putative)
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:2,472,611...2,494,478
Ensembl chrNW_004936524:2,472,624...2,492,768 Ensembl chrNW_004936524:2,472,624...2,492,768
|
|
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...
|
|
NCBI chrNW_004936809:812,454...817,226
Ensembl chrNW_004936809:812,390...817,288
|
|
G
|
Nab2
|
NGFI-A binding protein 2
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:1,291,251...1,297,463
Ensembl chrNW_004936646:1,291,446...1,299,118
|
|
G
|
Naca
|
nascent polypeptide associated complex subunit alpha
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:1,017,491...1,030,130
|
|
G
|
Ndufa4l2
|
NDUFA4 mitochondrial complex associated like 2
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:1,428,025...1,430,215
|
|
G
|
Nemp1
|
nuclear envelope integral membrane protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:1,266,017...1,281,473
Ensembl chrNW_004936646:1,262,729...1,281,519
|
|
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 PMID:34983064 PMID:39825153 More...
|
|
NCBI chrNW_004936471:38,363,521...38,403,647
Ensembl chrNW_004936471:38,364,940...38,407,314
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G
|
Nlrc4
|
NLR family CARD domain containing 4
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:32581362 |
|
NCBI chrNW_004936493:1,189,940...1,233,408
Ensembl chrNW_004936493:1,206,374...1,237,412
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|
G
|
Nol6
|
nucleolar protein 6
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:1,981,832...1,997,153
Ensembl chrNW_004936524:1,982,898...1,997,054
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G
|
Nos2
|
nitric oxide synthase 2
|
|
ISO
|
protein:increased expression:Lumbar segment of spinal cord, bone marrow-derived macrophage (rat)
|
RGD |
PMID:21959174 |
RGD:5509577 |
NCBI chrNW_004936538:4,052,277...4,097,051
Ensembl chrNW_004936538:4,052,448...4,097,051
|
|
G
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Npr2
|
natriuretic peptide receptor 2
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:3,779,398...3,798,074
Ensembl chrNW_004936524:3,779,392...3,798,501
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G
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Nsd3
|
nuclear receptor binding SET domain protein 3
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936710:1,629,178...1,732,827
Ensembl chrNW_004936710:1,631,234...1,732,827
|
|
G
|
Nsdhl
|
NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL
|
|
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...
|
|
NCBI chrNW_004936714:246,574...273,930
Ensembl chrNW_004936714:246,551...273,912
|
|
G
|
Nubpl
|
NUBP iron-sulfur cluster assembly factor, mitochondrial
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:21620353 PMID:25552650 PMID:27444738 PMID:28492532 |
|
NCBI chrNW_004936494:6,141,444...6,365,537
Ensembl chrNW_004936494:6,141,476...6,363,830
|
|
G
|
Nudt2
|
nudix hydrolase 2
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:2,438,947...2,452,647
Ensembl chrNW_004936524:2,441,860...2,454,174
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|
G
|
Nxph4
|
neurexophilin 4
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:1,410,937...1,421,383
Ensembl chrNW_004936646:1,410,931...1,421,531
|
|
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...
|
|
|
|
G
|
Os9
|
OS9 endoplasmic reticulum lectin
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:1,832,434...1,860,200
Ensembl chrNW_004936646:1,832,015...1,859,576
|
|
G
|
Pan2
|
poly(A) specific ribonuclease subunit PAN2
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:719,821...737,284
Ensembl chrNW_004936646:720,393...736,467
|
|
G
|
Pax5
|
paired box 5
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:4,700,815...4,887,035
Ensembl chrNW_004936524:4,700,841...4,887,106
|
|
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...
|
|
NCBI chrNW_004936809:681,412...707,932
Ensembl chrNW_004936809:679,938...707,938
|
|
G
|
Phf24
|
PHD finger protein 24
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:3,020,421...3,031,720
Ensembl chrNW_004936524:3,005,705...3,031,744
|
|
G
|
Pigo
|
phosphatidylinositol glycan anchor biosynthesis class O
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:3,116,627...3,126,681
Ensembl chrNW_004936524:3,118,010...3,125,587
|
|
G
|
Pip4k2c
|
phosphatidylinositol-5-phosphate 4-kinase type 2 gamma
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:1,737,088...1,748,056
Ensembl chrNW_004936646:1,737,034...1,748,057
|
|
G
|
Plekha2
|
pleckstrin homology domain containing A2
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936710:2,210,683...2,280,522
Ensembl chrNW_004936710:2,223,941...2,276,792
|
|
G
|
Plpbp
|
pyridoxal phosphate binding protein
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936710:1,216,142...1,236,559
Ensembl chrNW_004936710:1,216,104...1,238,153
|
|
G
|
Plpp5
|
phospholipid phosphatase 5
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936710:1,619,975...1,625,426
Ensembl chrNW_004936710:1,620,012...1,624,737
|
|
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...
|
|
NCBI chrNW_004936809:1,209,787...1,226,726
Ensembl chrNW_004936809:1,209,743...1,226,728
|
|
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...
|
|
NCBI chrNW_004936809:645,569...659,850
Ensembl chrNW_004936809:644,049...659,859
|
|
G
|
Pnck
|
pregnancy up-regulated nonubiquitous CaM kinase
|
|
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...
|
|
NCBI chrNW_004936809:553,438...557,385
Ensembl chrNW_004936809:553,431...557,427
|
|
G
|
Pnma3
|
PNMA family member 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...
|
|
NCBI chrNW_004936714:90,133...93,805
Ensembl chrNW_004936714:92,269...93,660
|
|
G
|
Pnma5
|
PNMA family member 5
|
|
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...
|
|
NCBI chrNW_004936714:155,618...156,955
Ensembl chrNW_004936714:155,618...157,563
|
|
G
|
Pnma6a
|
PNMA family member 6A
|
|
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...
|
|
NCBI chrNW_004936714:76,508...79,485
Ensembl chrNW_004936714:77,885...79,336
|
|
G
|
Pnma6e
|
PNMA family member 6E
|
|
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...
|
|
NCBI chrNW_004936809:266,367...269,248
|
|
G
|
Prim1
|
DNA primase subunit 1
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:1,033,921...1,054,203
Ensembl chrNW_004936646:1,036,777...1,054,108
|
|
G
|
Prkd1
|
protein kinase D1
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:21620353 PMID:25552650 PMID:27444738 PMID:28492532 |
|
NCBI chrNW_004936494:4,469,092...4,601,183
Ensembl chrNW_004936494:4,469,089...4,601,214
|
|
G
|
Ptges3
|
prostaglandin E synthase 3
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:969,674...990,532
|
|
G
|
R3hdm2
|
R3H domain containing 2
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:1,447,704...1,571,363
Ensembl chrNW_004936646:1,448,362...1,494,637
|
|
G
|
Rab11fip1
|
RAB11 family interacting protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936710:1,306,430...1,338,502
|
|
G
|
Rab39b
|
RAB39B, member RAS oncogene family
|
|
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...
|
|
NCBI chrNW_004936927:492,114...498,030
Ensembl chrNW_004936927:492,099...498,294
|
|
G
|
Rbms2
|
RNA binding motif single stranded interacting protein 2
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:842,408...914,624
Ensembl chrNW_004936646:842,532...932,229
|
|
G
|
Rdh11
|
retinol dehydrogenase 11
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:18394578 PMID:19805727 PMID:28492532 |
|
NCBI chrNW_004936495:11,065,946...11,082,104
Ensembl chrNW_004936495:11,066,660...11,082,044
|
|
G
|
Rdh12
|
retinol dehydrogenase 12
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:18394578 PMID:19805727 PMID:28492532 |
|
NCBI chrNW_004936495:11,111,247...11,121,976
Ensembl chrNW_004936495:11,111,105...11,121,341
|
|
G
|
Reck
|
reversion inducing cysteine rich protein with kazal motifs
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:4,021,666...4,099,703
Ensembl chrNW_004936524:4,021,660...4,099,705
|
|
G
|
Reep1
|
receptor accessory protein 1
|
|
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...
|
|
NCBI chrNW_004936712:1,186,565...1,241,829
Ensembl chrNW_004936712:1,206,276...1,241,301
|
|
G
|
Renbp
|
renin binding protein
|
|
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...
|
|
NCBI chrNW_004936809:817,392...823,926
Ensembl chrNW_004936809:817,355...823,941
|
|
G
|
Rfwd3
|
ring finger and WD repeat domain 3
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936475:23,544,974...23,586,716
Ensembl chrNW_004936475:23,544,953...23,586,740
|
|
G
|
Rgp1
|
RGP1 homolog, RAB6A GEF complex partner 1
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:3,742,590...3,746,371
Ensembl chrNW_004936524:3,742,596...3,750,742
|
|
G
|
Ribc1
|
RIB43A domain with coiled-coils 1
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936751:388,711...399,708
Ensembl chrNW_004936751:388,231...399,612
|
|
G
|
Rnf170
|
ring finger protein 170
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:25741868 PMID:31636353 |
|
NCBI chrNW_004937108:111,111...147,077
Ensembl chrNW_004937108:117,881...150,498
|
|
G
|
Rnf38
|
ring finger protein 38
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:4,281,124...4,359,378
Ensembl chrNW_004936524:4,281,224...4,337,733
|
|
G
|
Rpl10
|
ribosomal protein L10
|
|
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...
|
|
NCBI chrNW_004936809:1,146,994...1,149,573
Ensembl chrNW_004936809:1,146,809...1,149,618
|
|
G
|
Rpp25l
|
ribonuclease P/MRP subunit p25 like
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:2,692,179...2,694,461
|
|
G
|
Rtn2
|
reticulon 2
|
|
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 PMID:35684947 PMID:38527963 More...
|
|
NCBI chrNW_004936706:1,913,852...1,922,982
Ensembl chrNW_004936706:1,913,842...1,922,772
|
|
G
|
Rusc2
|
RUN and SH3 domain containing 2
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:3,535,122...3,594,452
Ensembl chrNW_004936524:3,535,175...3,596,077
|
|
G
|
Sacs
|
sacsin molecular chaperone
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:8472930 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:22411849 PMID:22816526 PMID:23043354 PMID:23123642 PMID:23250129 PMID:23280630 PMID:23338241 PMID:23497566 PMID:23785480 PMID:24033266 PMID:24108619 PMID:24123366 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:27412140 PMID:27433545 PMID:27600236 PMID:27871429 PMID:27965395 PMID:27974811 PMID:27980752 PMID:28050010 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:29970176 PMID:30271475 PMID:30311378 PMID:30460542 PMID:30638817 PMID:30665703 PMID:30680480 PMID:30840144 PMID:30866998 PMID:30901567 PMID:31069529 PMID:31130284 PMID:31146700 PMID:31230722 PMID:31429931 PMID:31475473 PMID:31493945 PMID:31519934 PMID:31636600 PMID:31637422 PMID:31673878 PMID:31681433 PMID:31692161 PMID:31743419 PMID:31920494 PMID:31980526 PMID:32140197 PMID:32488064 PMID:32581362 PMID:32606552 PMID:32625235 PMID:32709422 PMID:32816195 PMID:33414805 PMID:33624863 PMID:33746006 PMID:34085946 PMID:34121011 PMID:34234304 PMID:34426522 PMID:34429451 PMID:34600502 PMID:34649874 PMID:34663476 PMID:34758253 PMID:34786481 PMID:34816117 PMID:35130357 PMID:35326432 PMID:35328054 PMID:35499206 PMID:35578252 PMID:35715682 PMID:35731353 PMID:35904974 PMID:36233161 PMID:36833258 PMID:36905089 PMID:37926714 PMID:38132465 PMID:38261029 PMID:38534332 PMID:38928084 PMID:39825153 More...
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NCBI chrNW_004936688:1,987,075...2,079,148
Ensembl chrNW_004936688:1,987,054...2,079,173
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G
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Scfd1
|
sec1 family domain containing 1
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ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
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ClinVar |
PMID:21620353 PMID:25552650 PMID:27444738 PMID:28492532 |
|
NCBI chrNW_004936494:5,410,219...5,501,687
Ensembl chrNW_004936494:5,410,269...5,501,498
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G
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Scg3
|
secretogranin III
|
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ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
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ClinVar |
PMID:21620353 PMID:21937992 PMID:23472171 PMID:28492532 PMID:30237576 PMID:30732576 PMID:31688942 More...
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NCBI chrNW_004936471:13,514,072...13,552,250
Ensembl chrNW_004936471:13,514,073...13,555,139
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G
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Sdr9c7
|
short chain dehydrogenase/reductase family 9C member 7
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ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936646:1,170,855...1,190,797
Ensembl chrNW_004936646:1,171,736...1,182,929
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G
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Setx
|
senataxin
|
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ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
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ClinVar |
PMID:17159128 PMID:19569000 PMID:20981092 PMID:23941260 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chrNW_004936487:18,858,384...18,945,253
Ensembl chrNW_004936487:18,855,744...18,944,158
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G
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Sgcg
|
sarcoglycan gamma
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ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
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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 chrNW_004936688:2,083,930...2,191,206
Ensembl chrNW_004936688:2,083,846...2,191,876
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G
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Shmt2
|
serine hydroxymethyltransferase 2
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ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936646:1,422,844...1,427,929
Ensembl chrNW_004936646:1,422,817...1,429,037
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G
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Sigmar1
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sigma non-opioid intracellular receptor 1
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ISO
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ClinVar Annotator: match by term: Spastic paraplegia
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ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chrNW_004936524:2,717,885...2,720,874
Ensembl chrNW_004936524:2,715,769...2,721,085
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G
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Sit1
|
signaling threshold regulating transmembrane adaptor 1
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ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
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ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chrNW_004936524:3,649,195...3,650,792
Ensembl chrNW_004936524:3,649,714...3,650,679
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G
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Slc10a3
|
solute carrier family 10 member 3
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ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
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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 chrNW_004936809:1,241,980...1,245,986
Ensembl chrNW_004936809:1,241,986...1,246,266
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G
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Slc16a2
|
solute carrier family 16 member 2
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ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
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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 chrNW_004936683:803,186...910,143
Ensembl chrNW_004936683:803,134...910,284
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G
|
Slc30a6
|
solute carrier family 30 member 6
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ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
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ClinVar |
PMID:32581362 |
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NCBI chrNW_004936493:1,235,162...1,279,812
Ensembl chrNW_004936493:1,232,546...1,279,855
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G
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Slc33a1
|
solute carrier family 33 member 1
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:22243965 PMID:24215330 PMID:24583203 PMID:25741868 PMID:26467025 PMID:27306358 PMID:28492532 PMID:29908077 PMID:35588347 PMID:35999711 More...
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|
NCBI chrNW_004936519:3,038,895...3,061,215
Ensembl chrNW_004936519:3,036,106...3,061,271
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G
|
Slc6a8
|
solute carrier family 6 member 8
|
|
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 chrNW_004936809:571,234...578,298
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G
|
Smc1a
|
structural maintenance of chromosomes 1A
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ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936751:332,351...388,756
Ensembl chrNW_004936751:349,597...388,755
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G
|
Smim9
|
small integral membrane protein 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 chrNW_004936927:171,867...186,718
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G
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Spag8
|
sperm associated antigen 8
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|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
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ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
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NCBI chrNW_004936524:3,798,144...3,801,479
Ensembl chrNW_004936524:3,798,281...3,800,704
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G
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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 PMID:34983064 More...
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NCBI chrNW_004936493:1,283,754...1,342,592
Ensembl chrNW_004936493:1,283,729...1,343,390
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G
|
Spata31f1
|
SPATA31 subfamily F member 1
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|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
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ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:2,804,957...2,810,940
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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 |
|
NCBI chrNW_004936524:3,074,901...3,079,980
Ensembl chrNW_004936524:3,075,250...3,079,233
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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 chrNW_004936471:7,540,647...7,618,783
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G
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Sppl2a
|
signal peptide peptidase like 2A
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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 chrNW_004936471:12,700,777...12,730,509
Ensembl chrNW_004936471:12,701,014...12,729,995
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G
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Spryd4
|
SPRY domain containing 4
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|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936646:823,724...825,659
Ensembl chrNW_004936646:823,682...828,266
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G
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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 chrNW_004936809:661,264...666,198
Ensembl chrNW_004936809:661,264...666,188
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G
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Ssr4
|
signal sequence receptor subunit 4
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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 chrNW_004936809:675,178...679,245
Ensembl chrNW_004936809:675,049...679,707
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G
|
Stac3
|
SH3 and cysteine rich domain 3
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|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:1,436,505...1,444,712
Ensembl chrNW_004936646:1,436,425...1,443,595
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G
|
Star
|
steroidogenic acute regulatory protein
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ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936710:1,523,289...1,530,181
Ensembl chrNW_004936710:1,523,355...1,529,672
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G
|
Stat2
|
signal transducer and activator of transcription 2
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ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:747,178...763,449
Ensembl chrNW_004936646:748,727...761,287
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G
|
Stat6
|
signal transducer and activator of transcription 6
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:1,297,530...1,312,508
Ensembl chrNW_004936646:1,296,290...1,312,157
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G
|
Stoml2
|
stomatin like 2
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|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:3,129,149...3,132,405
Ensembl chrNW_004936524:3,129,148...3,133,056
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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 |
|
NCBI chrNW_004936494:5,635,870...5,722,123
Ensembl chrNW_004936494:5,634,191...5,722,462
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G
|
Tac3
|
tachykinin precursor 3
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:1,226,797...1,233,513
Ensembl chrNW_004936646:1,226,774...1,233,581
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G
|
Tacc1
|
transforming acidic coiled-coil containing protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936710:2,042,671...2,157,249
|
|
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 chrNW_004936809:1,160,265...1,168,956
Ensembl chrNW_004936809:1,160,247...1,171,097
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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 PMID:39825153 More...
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|
NCBI chrNW_004936709:1,304,843...1,313,191
Ensembl chrNW_004936709:1,304,971...1,313,770
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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 |
|
NCBI chrNW_004936524:3,615,933...3,620,384
Ensembl chrNW_004936524:3,615,927...3,621,474
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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...
|
|
NCBI chrNW_004936809:1,022,795...1,042,475
Ensembl chrNW_004936809:1,022,795...1,040,120
|
|
G
|
Timeless
|
timeless circadian regulator
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:780,021...792,856
Ensembl chrNW_004936646:780,087...792,837
|
|
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...
|
|
NCBI chrNW_004936809:1,048,672...1,084,125
Ensembl chrNW_004936809:1,048,672...1,083,994
|
|
G
|
Tln1
|
talin 1
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:3,693,679...3,727,055
Ensembl chrNW_004936524:3,693,679...3,727,098
|
|
G
|
Tm2d2
|
TM2 domain containing 2
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936710:2,298,233...2,301,239
Ensembl chrNW_004936710:2,297,247...2,301,232
|
|
G
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Tmem8b
|
transmembrane protein 8B
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|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
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ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:3,816,524...3,840,959
Ensembl chrNW_004936524:3,816,490...3,843,349
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G
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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...
|
|
NCBI chrNW_004936958:64,713...113,627
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|
G
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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 chrNW_004936471:13,602,769...13,636,258
Ensembl chrNW_004936471:13,602,732...13,729,228
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G
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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 chrNW_004936471:12,952,064...12,987,178
Ensembl chrNW_004936471:12,951,701...12,987,232
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G
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Tnfrsf19
|
TNF receptor superfamily member 19
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936688:1,791,350...1,883,351
Ensembl chrNW_004936688:1,790,824...1,883,351
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G
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Tpm2
|
tropomyosin 2
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:3,679,719...3,687,828
Ensembl chrNW_004936524:3,679,560...3,688,308
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|
G
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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...
|
|
NCBI chrNW_004936809:317,655...319,293
Ensembl chrNW_004936809:318,548...319,258
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|
G
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Tsfm
|
Ts translation elongation factor, mitochondrial
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:1,919,326...1,936,694
Ensembl chrNW_004936646:1,908,304...1,930,287
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|
G
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Tspan31
|
tetraspanin 31
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:1,883,272...1,886,287
Ensembl chrNW_004936646:1,883,341...1,889,284
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|
G
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Ttc27
|
tetratricopeptide repeat domain 27
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
|
|
NCBI chrNW_004936493:736,303...889,951
Ensembl chrNW_004936493:735,267...889,951
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|
G
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Ubap1
|
ubiquitin associated protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:2,322,653...2,373,685
Ensembl chrNW_004936524:2,322,634...2,374,349
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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 |
|
NCBI chrNW_004936524:2,107,263...2,210,200
Ensembl chrNW_004936524:2,107,230...2,210,225
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|
G
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Ube2r2
|
ubiquitin conjugating enzyme E2 R2
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:2,005,508...2,103,878
Ensembl chrNW_004936524:2,005,590...2,103,389
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|
G
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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...
|
|
NCBI chrNW_004936809:1,238,459...1,241,319
Ensembl chrNW_004936809:1,238,462...1,241,318
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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 chrNW_004936524:3,320,859...3,369,865
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|
G
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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 PMID:39825153 More...
|
|
NCBI chrNW_004936709:1,297,820...1,304,793
Ensembl chrNW_004936709:1,297,743...1,304,899
|
|
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...
|
|
NCBI chrNW_004936927:433,598...468,191
Ensembl chrNW_004936927:433,551...469,331
|
|
G
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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 chrNW_004936524:3,085,959...3,102,461
Ensembl chrNW_004936524:3,085,500...3,102,466
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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 chrNW_004936470:22,667,354...22,725,538
Ensembl chrNW_004936470:22,667,127...22,725,749
|
|
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...
|
|
NCBI chrNW_004936471:15,233,828...15,416,415
Ensembl chrNW_004936471:15,233,840...15,416,415
|
|
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...
|
|
NCBI chrNW_004936864:150,742...179,205
Ensembl chrNW_004936864:150,732...192,423
|
|
G
|
Yipf4
|
Yip1 domain family member 4
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
|
|
NCBI chrNW_004936493:1,152,459...1,177,964
Ensembl chrNW_004936493:1,151,979...1,177,983
|
|
G
|
Zbtb39
|
zinc finger and BTB domain containing 39
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936646:1,214,909...1,221,112
Ensembl chrNW_004936646:1,218,847...1,220,979
|
|
G
|
Zcchc7
|
zinc finger CCHC-type containing 7
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:23332916 PMID:23332917 PMID:28492532 |
|
NCBI chrNW_004936524:4,927,956...5,154,225
Ensembl chrNW_004936524:4,927,836...5,168,337
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|
G
|
Zfp1
|
ZFP1 zinc finger protein
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936475:23,935,588...23,953,489
Ensembl chrNW_004936475:23,935,594...23,953,465
|
|
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...
|
|
NCBI chrNW_004936809:294,114...309,368
Ensembl chrNW_004936809:301,482...356,094
|
|
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:24123366 PMID:24833714 PMID:25133958 PMID:25326637 PMID:25497598 PMID:25525159 PMID:25741868 PMID:26467025 PMID:26492578 PMID:26633545 PMID:26944241 PMID:27217339 PMID:27544497 PMID:27679996 PMID:28213671 PMID:28362824 PMID:28492532 PMID:28832565 PMID:29246610 PMID:29590070 PMID:29858556 PMID:30555096 PMID:31069529 PMID:31108397 PMID:31692161 PMID:33144682 PMID:36315648 PMID:36964972 PMID:37041082 PMID:37091313 PMID:39825153 More...
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|
NCBI chrNW_004936495:11,132,025...11,191,446
Ensembl chrNW_004936495:11,134,138...11,190,863
|
|
G
|
Zfyve27
|
zinc finger FYVE-type containing 27
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:9536098 PMID:16199547 PMID:16826525 PMID:17576681 PMID:18606302 PMID:24668814 PMID:25741868 PMID:28166811 PMID:28492532 PMID:30564185 More...
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|
NCBI chrNW_004936636:1,979,287...2,003,696
Ensembl chrNW_004936636:1,979,172...2,003,769
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|
G
|
Znf185
|
zinc finger protein 185 with LIM domain
|
|
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...
|
|
NCBI chrNW_004936714:167,552...218,785
Ensembl chrNW_004936714:152,319...218,921
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|
G
|
Znrf1
|
zinc and ring finger 1
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936475:23,814,200...23,918,871
Ensembl chrNW_004936475:23,814,194...23,916,530
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|
|
G
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Dnajc19
|
DnaJ heat shock protein family (Hsp40) member C19
|
|
ISO
|
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3
|
ClinVar |
PMID:16055927 PMID:27928778 PMID:28492532 |
|
NCBI chrNW_004936566:2,342,995...2,348,345
Ensembl chrNW_004936566:2,343,013...2,368,213
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G
|
Opa1
|
OPA1 mitochondrial dynamin like GTPase
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|
ISO
|
ClinVar Annotator: match by term: Costeff optic atrophy syndrome
|
ClinVar |
PMID:9490303 PMID:9917792 PMID:11017079 PMID:11440988 PMID:11440989 PMID:11810270 PMID:12036970 PMID:14961560 PMID:15505825 PMID:16513463 PMID:17306754 PMID:18222991 PMID:20157015 PMID:20417570 PMID:20659957 PMID:20952381 PMID:21636302 PMID:21646330 PMID:22042570 PMID:22857269 PMID:23250881 PMID:23401657 PMID:24907432 PMID:25012220 PMID:25641387 PMID:25741868 PMID:26385429 PMID:26467025 PMID:28492532 PMID:28494813 PMID:28812649 PMID:30165240 PMID:31500643 PMID:32025183 PMID:33546218 PMID:33884488 PMID:34242285 PMID:37091313 More...
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|
NCBI chrNW_004936711:1,027,531...1,113,796
Ensembl chrNW_004936711:1,032,935...1,106,847
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|
G
|
Opa3
|
outer mitochondrial membrane lipid metabolism regulator OPA3
|
|
ISO
|
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 | ClinVar Annotator: match by term: Costeff optic atrophy syndrome
|
OMIM ClinVar |
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:31119193 PMID:31928268 PMID:32855858 PMID:32883240 More...
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|
NCBI chrNW_004936706:1,961,571...1,996,637
Ensembl chrNW_004936706:1,964,237...1,995,175
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|
|
G
|
Atp5mc3
|
ATP synthase membrane subunit c locus 3
|
|
ISO
|
ClinVar Annotator: match by term: Dystonia, early-onset, and/or spastic paraplegia
|
OMIM ClinVar |
PMID:19006192 PMID:34636445 PMID:34954817 |
|
NCBI chrNW_004936509:4,836,148...4,839,330
|
|
|
G
|
Iqsec2
|
IQ motif and Sec7 domain ArfGEF 2
|
|
ISO
|
ClinVar Annotator: match by term: MENTAL RETARDATION WITH SPASTIC PARAPLEGIA AND PALMOPLANTAR HYPERKERATOSIS
|
ClinVar |
PMID:21686261 PMID:25649377 PMID:25741868 PMID:26793055 PMID:27665735 PMID:28492532 PMID:29100083 PMID:30206421 More...
|
|
NCBI chrNW_004936751:210,800...294,358
Ensembl chrNW_004936751:210,761...294,399
|
|
|
G
|
Als2
|
alsin Rho guanine nucleotide exchange factor ALS2
|
|
ISO
|
ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis | ClinVar Annotator: match by term: Spastic paralysis, infantile onset ascending
|
OMIM ClinVar |
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:29590070 PMID:29605155 PMID:30054184 PMID:30128655 PMID:30224357 PMID:30581417 PMID:31130284 PMID:31182772 PMID:31405128 PMID:31589614 PMID:32214227 PMID:32397312 PMID:32579787 PMID:33409823 PMID:33414559 PMID:33589474 PMID:33770234 PMID:34011629 PMID:34670123 PMID:35896380 PMID:37055917 PMID:37091313 PMID:37952009 More...
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|
NCBI chrNW_004936726:940,696...1,015,771
Ensembl chrNW_004936726:939,341...1,015,799
|
|
G
|
Mpp4
|
MAGUK p55 scaffold protein 4
|
|
ISO
|
ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis
|
ClinVar |
PMID:11586298 PMID:22152675 PMID:24315819 PMID:28492532 |
|
NCBI chrNW_004936726:893,411...938,876
Ensembl chrNW_004936726:892,550...938,969
|
|
G
|
Tmem237
|
transmembrane protein 237
|
|
ISO
|
ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis
|
ClinVar |
PMID:11586298 PMID:22152675 PMID:24315819 PMID:28492532 |
|
NCBI chrNW_004936726:872,368...892,185
Ensembl chrNW_004936726:869,238...891,283
|
|
|
G
|
Abhd16a
|
abhydrolase domain containing 16A, phospholipase
|
|
ISO
|
ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia | ClinVar Annotator: match by term: Complex hereditary spastic paraplegia
|
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936727:1,828,966...1,843,334
Ensembl chrNW_004936727:1,828,905...1,844,967
|
|
G
|
Adam28
|
ADAM metallopeptidase domain 28
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia
|
ClinVar |
|
|
NCBI chrNW_004936555:7,615,639...7,660,776
Ensembl chrNW_004936555:7,617,822...7,664,215
|
|
G
|
Adgrb2
|
adhesion G protein-coupled receptor B2
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia
|
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936474:14,835,621...14,870,815
Ensembl chrNW_004936474:14,835,602...14,870,821
|
|
G
|
Als2
|
alsin Rho guanine nucleotide exchange factor ALS2
|
|
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:26637979 PMID:27790088 PMID:28407358 PMID:28430856 PMID:28492532 PMID:28714951 PMID:28832565 PMID:29525178 PMID:31182772 PMID:31589614 PMID:32397312 PMID:33414559 PMID:33770234 PMID:34011629 PMID:34670123 PMID:35896380 PMID:37091313 More...
|
|
NCBI chrNW_004936726:940,696...1,015,771
Ensembl chrNW_004936726:939,341...1,015,799
|
|
G
|
Ampd2
|
adenosine monophosphate deaminase 2
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia
|
ClinVar |
PMID:25741868 PMID:28492532 PMID:28832565 |
|
NCBI chrNW_004936704:1,092,180...1,111,722
Ensembl chrNW_004936704:1,099,816...1,113,887
|
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G
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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
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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 chrNW_004936690:2,255,159...2,265,833
Ensembl chrNW_004936690:2,255,159...2,265,847
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G
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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
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ClinVar |
PMID:18414213 PMID:25741868 PMID:26350204 PMID:26544806 PMID:28492532 |
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NCBI chrNW_004936471:12,857,259...12,919,615
Ensembl chrNW_004936471:12,857,323...12,916,718
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G
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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
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ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:24700674 PMID:25326635 PMID:25496299 PMID:25558065 PMID:25741868 PMID:28492532 PMID:28832565 PMID:29473051 PMID:31915823 PMID:32979048 PMID:33001864 More...
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NCBI chrNW_004936543:246,335...250,278
Ensembl chrNW_004936543:246,335...254,975
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G
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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
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ClinVar |
PMID:18414213 PMID:25741868 PMID:26350204 PMID:28492532 |
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NCBI chrNW_004936494:5,720,474...5,758,888
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G
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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
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ClinVar |
PMID:25741868 PMID:28832565 |
|
NCBI chrNW_004936599:3,750,553...3,753,601
Ensembl chrNW_004936599:3,750,512...3,754,291
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G
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Ap5z1
|
adaptor related protein complex 5 subunit zeta 1
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
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ClinVar |
PMID:9536098 PMID:17576681 PMID:20613862 PMID:24033266 PMID:24833714 PMID:24926664 PMID:25333062 PMID:25741868 PMID:26467025 PMID:26637979 PMID:27606357 PMID:28492532 PMID:28832565 PMID:29970176 PMID:34983064 PMID:37012327 More...
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NCBI chrNW_004936765:1,112,333...1,123,244
Ensembl chrNW_004936765:1,111,882...1,123,316
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G
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Arhgap9
|
Rho GTPase activating protein 9
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia
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ClinVar |
PMID:25741868 PMID:28832565 |
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NCBI chrNW_004936646:1,629,814...1,637,535
Ensembl chrNW_004936646:1,630,029...1,638,571
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G
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Armc9
|
armadillo repeat containing 9
|
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia
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ClinVar |
PMID:9373798 |
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NCBI chrNW_004936525:5,518,691...5,648,109
Ensembl chrNW_004936525:5,514,521...5,648,074
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G
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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 |
|
NCBI chrNW_004936504:4,624,949...4,631,482
Ensembl chrNW_004936504:4,624,945...4,631,487
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G
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Atl1
|
atlastin GTPase 1
|
|
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:31216405 PMID:31227335 PMID:31630374 PMID:31920481 PMID:32322428 PMID:32581362 PMID:34546351 PMID:34808209 PMID:39825153 More...
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NCBI chrNW_004936495:14,984,761...15,053,188
Ensembl chrNW_004936495:14,984,336...15,040,597
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G
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B3gnt7
|
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia
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ClinVar |
PMID:9373798 |
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NCBI chrNW_004936525:5,495,815...5,508,400
Ensembl chrNW_004936525:5,496,465...5,505,278
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G
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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 chrNW_004936487:2,287,736...2,335,674
Ensembl chrNW_004936487:2,255,882...2,335,731
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G
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Borcs7
|
BLOC-1 related complex subunit 7
|
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ISO
|
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MouseDO |
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|
NCBI chrNW_004936600:3,074,857...3,088,294
Ensembl chrNW_004936600:3,074,987...3,088,524
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G
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Bscl2
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BSCL2 lipid droplet biogenesis associated, seipin
|
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia
|
ClinVar |
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:29525178 PMID:30004997 PMID:31824185 PMID:32320108 PMID:32397312 PMID:34085946 PMID:34942918 PMID:35351089 PMID:37541188 More...
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NCBI chrNW_004936581:567,426...576,859
Ensembl chrNW_004936581:567,662...578,267
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G
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Cct5
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chaperonin containing TCP1 subunit 5
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia
|
ClinVar |
PMID:28492532 PMID:28832565 |
|
NCBI chrNW_004936643:2,354,799...2,368,048
Ensembl chrNW_004936643:2,354,799...2,368,048
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G
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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 chrNW_004936529:7,577,122...7,632,161
Ensembl chrNW_004936529:7,585,839...7,635,439
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G
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Cnnm2
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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 |
|
NCBI chrNW_004936600:2,898,321...3,037,414
Ensembl chrNW_004936600:2,904,410...3,036,132
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G
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CUNH19orf12
|
chromosome unknown C19orf12 homolog
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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 PMID:39825153 More...
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NCBI chrNW_004936570:5,628,593...5,640,982
Ensembl chrNW_004936570:5,628,515...5,641,056
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G
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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:26637979 PMID:26944165 PMID:27216551 PMID:28492532 More...
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NCBI chrNW_004936697:1,786,023...1,863,084
Ensembl chrNW_004936697:1,786,017...1,860,614
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G
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Ddhd2
|
DDHD domain containing 2
|
|
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:23176823 PMID:24337409 PMID:24517879 PMID:25417924 PMID:25558065 PMID:25741868 PMID:28492532 PMID:31302745 PMID:32488064 PMID:37420318 More...
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NCBI chrNW_004936710:1,593,899...1,616,572
Ensembl chrNW_004936710:1,593,946...1,618,828
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G
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Dnajc16
|
DnaJ heat shock protein family (Hsp40) member C16
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia
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ClinVar |
|
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NCBI chrNW_004936474:3,201,773...3,241,939
Ensembl chrNW_004936474:3,201,755...3,243,093
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G
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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
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ClinVar |
|
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NCBI chrNW_004936471:7,517,577...7,541,965
Ensembl chrNW_004936471:7,517,540...7,540,371
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G
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Erlin1
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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 |
|
NCBI chrNW_004936636:80,583...116,027
Ensembl chrNW_004936636:80,564...116,694
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G
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Erlin2
|
ER lipid raft associated 2
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia
|
ClinVar |
PMID:18414213 PMID:25741868 PMID:28492532 PMID:28832565 PMID:29528531 PMID:32042907 PMID:32147972 PMID:33397523 PMID:33810837 PMID:34734492 PMID:38427163 More...
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NCBI chrNW_004936710:1,193,679...1,210,059
Ensembl chrNW_004936710:1,193,411...1,210,739
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G
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Fa2h
|
fatty acid 2-hydroxylase
|
|
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:18414213 PMID:24033266 PMID:24299421 PMID:24833714 PMID:25356970 PMID:25741868 PMID:26344562 PMID:26467025 PMID:27217339 PMID:27957547 PMID:28017243 PMID:28492532 PMID:30713878 PMID:31135052 PMID:31429931 PMID:32624042 PMID:33144682 PMID:34983064 PMID:35578252 PMID:37410270 PMID:37573804 More...
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NCBI chrNW_004936475:23,625,023...23,675,211
Ensembl chrNW_004936475:23,624,969...23,675,235
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G
|
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:22237560 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25488682 PMID:25741868 PMID:26104464 PMID:26467025 PMID:28130605 PMID:28492532 PMID:30451971 PMID:35478072 More...
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NCBI chrNW_004936483:15,096,215...15,179,856
Ensembl chrNW_004936483:15,106,902...15,179,094
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G
|
Flrt1
|
fibronectin leucine rich transmembrane protein 1
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia
|
ClinVar |
PMID:28832565 |
|
NCBI chrNW_004936599:5,047,982...5,068,345
Ensembl chrNW_004936599:5,055,597...5,057,621
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G
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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 |
|
NCBI chrNW_004936509:1,160,559...1,201,037
Ensembl chrNW_004936509:1,161,094...1,201,576
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G
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Gba2
|
glucosylceramidase beta 2
|
|
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 chrNW_004936524:3,730,833...3,742,526
Ensembl chrNW_004936524:3,730,833...3,742,531
|
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G
|
Gjc2
|
gap junction protein gamma 2
|
|
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 chrNW_004936864:67,608...71,543
Ensembl chrNW_004936864:69,445...70,752
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|
G
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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
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RGD ClinVar |
PMID:11898127 PMID:17072495 PMID:18414213 PMID:19423133 PMID:19494379 PMID:22552817 PMID:24033266 PMID:25326637 PMID:25341883 PMID:25741868 PMID:26467025 PMID:27251275 PMID:27630992 PMID:28166811 PMID:28492532 PMID:28832565 PMID:32433464 PMID:32570879 More...
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RGD:1624200 |
NCBI chrNW_004936506:1,678,069...1,687,632
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|
G
|
Jak3
|
Janus kinase 3
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia
|
ClinVar |
|
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NCBI chrNW_004936596:3,212,593...3,224,426
Ensembl chrNW_004936596:3,212,593...3,224,048
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G
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Kif1a
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kinesin family member 1A
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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:9536098 PMID:17576681 PMID:21376300 PMID:22258533 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:28927378 PMID:28970574 PMID:29159194 PMID:29590070 PMID:29691679 PMID:31455732 PMID:31488895 PMID:31700678 PMID:31796088 PMID:32096284 PMID:32343762 PMID:32737135 PMID:32860008 PMID:33880452 PMID:39825153 More...
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NCBI chrNW_004936745:911,651...976,878
Ensembl chrNW_004936745:911,709...974,199
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G
|
Kif1c
|
kinesin family member 1C
|
|
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 chrNW_004936677:2,696,385...2,720,959
Ensembl chrNW_004936677:2,696,209...2,720,959
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|
G
|
Kif5a
|
kinesin family member 5A
|
|
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:27463701 PMID:28492532 PMID:28678816 PMID:28708278 PMID:28832565 PMID:29892902 PMID:30057544 PMID:31108397 PMID:31211173 PMID:31403080 PMID:31404076 PMID:31475037 PMID:33059505 PMID:33310205 PMID:34715294 PMID:34983064 PMID:35303589 PMID:35578252 PMID:37524782 PMID:37926714 More...
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|
NCBI chrNW_004936646:1,697,531...1,730,376
Ensembl chrNW_004936646:1,697,492...1,732,832
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|
G
|
Ky
|
kyphoscoliosis peptidase
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia
|
ClinVar |
PMID:28488683 |
|
NCBI chrNW_004936529:7,657,963...7,704,482
Ensembl chrNW_004936529:7,657,957...7,704,517
|
|
G
|
L1cam
|
L1 cell adhesion molecule
|
|
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...
|
|
NCBI chrNW_004936809:736,385...768,822
Ensembl chrNW_004936809:736,319...761,973
|
|
G
|
L2hgdh
|
L-2-hydroxyglutarate dehydrogenase
|
|
ISO
|
DNA:mutation:cds:c.241A4G(p.K81E)(human)
|
RGD |
PMID:24573090 |
RGD:13506824 |
NCBI chrNW_004936495:15,238,726...15,278,840
Ensembl chrNW_004936495:15,238,738...15,278,840
|
|
G
|
LOC101955077
|
cytochrome P450 7B1
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
|
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: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:27084228 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:31692161 PMID:32202070 PMID:33160247 PMID:34234304 PMID:34426522 PMID:34983064 More...
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|
NCBI chrNW_004936496:8,900,320...9,072,109
Ensembl chrNW_004936496:8,899,965...9,072,089
|
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G
|
LOC101973126
|
cytochrome P450 2U1
|
|
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 chrNW_004936818:650,593...672,349
Ensembl chrNW_004936818:650,589...672,355
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G
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LOC101975532
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delta-1-pyrroline-5-carboxylate synthase
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936636:3,779,259...3,800,846
Ensembl chrNW_004936636:3,760,326...3,801,073
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G
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Macrod1
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mono-ADP ribosylhydrolase 1
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia
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ClinVar |
PMID:28832565 |
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NCBI chrNW_004936599:5,018,636...5,154,844
Ensembl chrNW_004936599:5,018,770...5,154,491
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G
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Mag
|
myelin associated glycoprotein
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia
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ClinVar |
PMID:25741868 PMID:28492532 PMID:28832565 PMID:31402626 PMID:32629324 PMID:34426522 More...
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NCBI chrNW_004936570:989,743...1,004,820
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G
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Mars1
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methionyl-tRNA synthetase 1
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia
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ClinVar |
PMID:25741868 PMID:28832565 |
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NCBI chrNW_004936646:1,644,457...1,665,081
Ensembl chrNW_004936646:1,644,457...1,665,086
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G
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Mcoln1
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mucolipin TRP cation channel 1
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ISO
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ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
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ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chrNW_004936588:4,600,344...4,608,793
Ensembl chrNW_004936588:4,600,344...4,608,787
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G
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Milr1
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mast cell immunoglobulin like receptor 1
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia
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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 chrNW_004936541:4,959,838...4,972,543
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G
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Mtrfr
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mitochondrial translation release factor in rescue
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936558:1,470,781...1,482,885
Ensembl chrNW_004936558:1,470,775...1,483,344
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G
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Myt1
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myelin transcription factor 1
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia
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ClinVar |
|
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NCBI chrNW_004936514:11,305,929...11,367,935
Ensembl chrNW_004936514:11,308,071...11,368,801
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G
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Nipa1
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NIPA magnesium transporter 1
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia
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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 PMID:39825153 More...
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NCBI chrNW_004936471:38,363,521...38,403,647
Ensembl chrNW_004936471:38,364,940...38,407,314
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G
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Nmur1
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neuromedin U receptor 1
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia
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ClinVar |
PMID:9373798 |
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NCBI chrNW_004936525:5,355,570...5,386,284
Ensembl chrNW_004936525:5,382,372...5,385,788
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G
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Npr3
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natriuretic peptide receptor 3
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ISO
|
ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936518:8,093,111...8,158,862
Ensembl chrNW_004936518:8,093,561...8,158,868
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G
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Nrg1
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neuregulin 1
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia
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ClinVar |
|
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NCBI chrNW_004936766:1,104,841...1,306,368
Ensembl chrNW_004936766:1,104,728...1,305,972
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G
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Nt5c2
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5'-nucleotidase, cytosolic II
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia
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ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936600:2,828,277...2,892,795
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G
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Pgap1
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post-GPI attachment to proteins inositol deacylase 1
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936506:2,224,598...2,297,022
Ensembl chrNW_004936506:2,224,572...2,294,739
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G
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Plekhg5
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pleckstrin homology and RhoGEF domain containing G5
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia
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ClinVar |
|
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NCBI chrNW_004936623:1,255,350...1,279,310
Ensembl chrNW_004936623:1,255,096...1,279,349
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G
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Plp1
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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 chrNW_004936499:10,534,953...10,553,411
Ensembl chrNW_004936499:10,534,950...10,551,012
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G
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Pnpla6
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patatin like domain 6, lysophospholipase
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
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ClinVar |
PMID:3963113 PMID:8053762 PMID:18313024 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 chrNW_004936588:4,608,856...4,632,198
Ensembl chrNW_004936588:4,608,963...4,632,183
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G
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Polg
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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
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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:26341968 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:28480171 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:29420653 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:31440721 PMID:31521625 PMID:31571979 PMID:31589614 PMID:31645654 PMID:31655921 PMID:31658717 PMID:31665838 PMID:31669236 PMID:31980526 PMID:32005694 PMID:32165824 PMID:32234506 PMID:32348839 PMID:32391929 PMID:32445240 PMID:32502631 PMID:32949115 PMID:32964447 PMID:33233646 PMID:33396418 PMID:33469851 PMID:33473333 PMID:33484326 PMID:33486010 PMID:33513296 PMID:33579567 PMID:33671400 PMID:33683010 PMID:33726816 PMID:33763395 PMID:33791913 PMID:33956154 PMID:34008892 PMID:34023347 PMID:34052969 PMID:34062649 PMID:34194468 PMID:34426522 PMID:34490615 PMID:34504347 PMID:34504726 PMID:34670123 PMID:34690748 PMID:34732400 PMID:34782754 PMID:34803902 PMID:34927673 PMID:35114397 PMID:35350396 PMID:35478072 PMID:35598585 PMID:35641312 PMID:35699875 PMID:35799515 PMID:35860755 PMID:35861376 PMID:36065636 PMID:36325100 PMID:36332611 PMID:36342673 PMID:36658419 PMID:36703500 PMID:36918699 PMID:36987741 PMID:37091313 PMID:37168916 PMID:37184518 PMID:37189790 PMID:37256495 PMID:38012111 PMID:38294884 PMID:38772265 PMID:38845467 More...
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NCBI chrNW_004936483:15,178,947...15,196,277
Ensembl chrNW_004936483:15,179,342...15,195,258
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G
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Polg2
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DNA polymerase gamma 2, accessory subunit
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia
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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 chrNW_004936541:4,988,469...5,004,110
Ensembl chrNW_004936541:4,988,368...5,003,922
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G
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Pqbp1
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polyglutamine binding protein 1
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|
ISO
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CTD Direct Evidence: marker/mechanism
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CTD |
PMID:14634649 |
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NCBI chrNW_004936721:825,171...830,010
Ensembl chrNW_004936721:825,075...832,755
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G
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Rab9b
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RAB9B, member RAS oncogene family
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia
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ClinVar |
PMID:10319897 PMID:15712223 PMID:24019930 PMID:25741868 PMID:26125040 PMID:26467025 PMID:28492532 PMID:30195779 More...
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NCBI chrNW_004936499:10,501,837...10,506,793
Ensembl chrNW_004936499:10,437,611...10,504,320
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G
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Reep1
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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
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ClinVar |
PMID:16199547 PMID:16826527 PMID:18321925 PMID:18644145 PMID:19034539 PMID:19072839 PMID:20200447 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 PMID:32655478 More...
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NCBI chrNW_004936712:1,186,565...1,241,829
Ensembl chrNW_004936712:1,206,276...1,241,301
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G
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Retreg1
|
reticulophagy regulator 1
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia
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ClinVar |
PMID:25741868 |
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NCBI chrNW_004936480:19,114,753...19,253,346
Ensembl chrNW_004936480:19,114,768...19,253,352
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G
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Rtn2
|
reticulon 2
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia
|
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chrNW_004936706:1,913,852...1,922,982
Ensembl chrNW_004936706:1,913,842...1,922,772
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G
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Sacs
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sacsin molecular chaperone
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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: 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: Autosomal recessive complex spastic paraplegia | ClinVar Annotator: match by term: Hereditary spastic paraplegia
|
ClinVar |
PMID:8472930 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:22411849 PMID:23123642 PMID:23250129 PMID:23280630 PMID:23497566 PMID:24108619 PMID:24123366 PMID:24418350 PMID:24457356 PMID:25326637 PMID:25401298 PMID:25405613 PMID:25497598 PMID:25741868 PMID:25887915 PMID:26302956 PMID:26410750 PMID:26467025 PMID:26539891 PMID:27288452 PMID:27412140 PMID:27433545 PMID:27871429 PMID:27965395 PMID:27974811 PMID:27980752 PMID:28050010 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:29970176 PMID:30271475 PMID:30311378 PMID:30460542 PMID:30638817 PMID:30680480 PMID:30901567 PMID:31146700 PMID:31519934 PMID:31636600 PMID:31637422 PMID:31673878 PMID:31681433 PMID:31692161 PMID:32625235 PMID:33624863 PMID:34085946 PMID:34426522 PMID:34429451 PMID:34600502 PMID:34786481 PMID:35328054 PMID:36233161 PMID:37926714 PMID:38534332 PMID:39825153 More...
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NCBI chrNW_004936688:1,987,075...2,079,148
Ensembl chrNW_004936688:1,987,054...2,079,173
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G
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Setx
|
senataxin
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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: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia
|
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:27487029 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 PMID:36515702 PMID:36549973 PMID:38137339 More...
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|
NCBI chrNW_004936487:18,858,384...18,945,253
Ensembl chrNW_004936487:18,855,744...18,944,158
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G
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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 chrNW_004936683:803,186...910,143
Ensembl chrNW_004936683:803,134...910,284
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G
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Slc1a5
|
solute carrier family 1 member 5
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia
|
ClinVar |
|
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NCBI chrNW_004936664:599,012...610,689
Ensembl chrNW_004936664:598,468...610,698
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G
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Slc33a1
|
solute carrier family 33 member 1
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia
|
ClinVar |
PMID:24215330 PMID:24583203 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29908077 PMID:35588347 More...
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|
NCBI chrNW_004936519:3,038,895...3,061,215
Ensembl chrNW_004936519:3,036,106...3,061,271
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G
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Sorl1
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sortilin related receptor 1
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ISO
|
ClinVar Annotator: match by term: Complex hereditary spastic paraplegia
|
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936542:6,192,407...6,352,835
Ensembl chrNW_004936542:6,192,407...6,352,424
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G
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Spart
|
spartin
|
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia
|
ClinVar |
PMID:23699601 PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chrNW_004936472:30,467,975...30,525,880
Ensembl chrNW_004936472:30,467,964...30,504,624
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G
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Spast
|
spastin
|
|
ISO
|
ClinVar Annotator: match by term: Autosomal dominant hereditary 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
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ClinVar |
PMID:9536098 PMID:10610178 PMID:10699187 PMID:11015453 PMID:11039577 PMID:11087788 PMID:11309678 PMID:11809724 PMID:11843700 PMID:11985387 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:18410514 PMID:18608088 PMID:18613979 PMID:18701882 PMID:19289482 PMID:19423133 PMID:19438933 PMID:19730024 PMID:19875132 PMID:20154342 PMID:20214791 PMID:20301339 PMID:20430936 PMID:20491894 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:24453961 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:26986070 PMID:27084228 PMID:27108959 PMID:27229699 PMID:27260292 PMID:27276562 PMID:27334366 PMID:27688599 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:30008175 PMID:30476002 PMID:30528841 PMID:30564185 PMID:30778698 PMID:30937429 PMID:31157359 PMID:31227335 PMID:31285604 PMID:31594988 PMID:31630374 PMID:31751864 PMID:31851166 PMID:32092540 PMID:33397523 PMID:33624935 PMID:34008892 PMID:34445196 PMID:34753439 PMID:34950521 PMID:34983064 PMID:35487127 PMID:35578252 PMID:36139378 PMID:37144097 PMID:37251230 PMID:37473796 PMID:39825153 More...
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NCBI chrNW_004936493:1,283,754...1,342,592
Ensembl chrNW_004936493:1,283,729...1,343,390
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G
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Spg11
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SPG11 vesicle trafficking associated, spatacsin
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ISO
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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 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
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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:21035867 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:28933964 PMID:29525178 PMID:29691679 PMID:29732542 PMID:29908077 PMID:29946510 PMID:29980238 PMID:30081747 PMID:30212743 PMID:30574063 PMID:30609409 PMID:30778698 PMID:31281085 PMID:31289639 PMID:31407473 PMID:31589614 PMID:32005694 PMID:32019516 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:33638609 PMID:35012964 PMID:35066644 PMID:35254204 PMID:35326432 PMID:35464835 PMID:35628876 PMID:35906604 PMID:36028943 PMID:36139378 PMID:36432490 PMID:39825153 More...
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NCBI chrNW_004936471:7,540,647...7,618,783
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G
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Spg21
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SPG21 abhydrolase domain containing, maspardin
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susceptibility
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia
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RGD ClinVar |
PMID:6024251 PMID:14564668 PMID:16199547 PMID:25741868 PMID:26467025 PMID:28492532 More...
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RGD:1556574 |
NCBI chrNW_004936471:25,301,385...25,327,835
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G
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Sptan1
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spectrin alpha, non-erythrocytic 1
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia
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ClinVar |
PMID:25741868 PMID:28492532 PMID:31332438 PMID:32811770 PMID:33578420 PMID:34590414 PMID:35150594 PMID:36331550 More...
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NCBI chrNW_004936487:16,071,043...16,142,662
Ensembl chrNW_004936487:16,070,996...16,142,662
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G
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Sub1
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SUB1 regulator of transcription
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ISO
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ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936518:8,236,026...8,249,007
Ensembl chrNW_004936518:8,233,338...8,249,549
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G
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Tecpr2
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tectonin beta-propeller repeat containing 2
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia
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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 chrNW_004936835:525,198...604,685
Ensembl chrNW_004936835:524,802...607,365
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G
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Tex44
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testis expressed 44
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia
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ClinVar |
PMID:9373798 |
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NCBI chrNW_004936525:5,354,202...5,355,338
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G
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Twnk
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twinkle mtDNA helicase
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia
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ClinVar |
PMID:21689831 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 PMID:31133750 PMID:35641312 PMID:35982159 PMID:37349538 More...
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NCBI chrNW_004936600:4,691,112...4,696,523
Ensembl chrNW_004936600:4,691,104...4,696,507
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G
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Usp50
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ubiquitin specific peptidase 50
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936471:12,522,361...12,552,611
Ensembl chrNW_004936471:12,521,731...12,552,346
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G
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Usp8
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ubiquitin specific peptidase 8
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia
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ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936471:12,463,189...12,524,148
Ensembl chrNW_004936471:12,463,120...12,520,674
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G
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Vps37a
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VPS37A subunit of ESCRT-I
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936573:6,306,218...6,343,544
Ensembl chrNW_004936573:6,306,536...6,340,271
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G
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Washc5
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WASH complex subunit 5
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ISO
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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
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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:32326241 PMID:32816195 PMID:33726816 PMID:34184482 PMID:38028608 More...
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NCBI chrNW_004936470:22,667,354...22,725,538
Ensembl chrNW_004936470:22,667,127...22,725,749
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G
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Wdr48
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WD repeat domain 48
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia
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ClinVar |
PMID:25741868 PMID:28832565 |
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NCBI chrNW_004936473:28,307,913...28,351,727
Ensembl chrNW_004936473:28,307,875...28,354,279
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G
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Zfr
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zinc finger RNA binding protein
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia
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ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936518:8,367,396...8,442,271
Ensembl chrNW_004936518:8,367,479...8,440,851
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G
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Zfyve26
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zinc finger FYVE-type containing 26
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ISO
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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
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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:26944241 PMID:27679996 PMID:28213671 PMID:28362824 PMID:28492532 PMID:28832565 PMID:29246610 PMID:29590070 PMID:31108397 PMID:33144682 PMID:36315648 PMID:37091313 More...
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NCBI chrNW_004936495:11,132,025...11,191,446
Ensembl chrNW_004936495:11,134,138...11,190,863
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G
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Atl1
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atlastin GTPase 1
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ISO
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ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936495:14,984,761...15,053,188
Ensembl chrNW_004936495:14,984,336...15,040,597
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G
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Erlin2
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ER lipid raft associated 2
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ISO
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ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant
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ClinVar |
PMID:25741868 |
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NCBI chrNW_004936710:1,193,679...1,210,059
Ensembl chrNW_004936710:1,193,411...1,210,739
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G
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Hspd1
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heat shock protein family D (Hsp60) member 1
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ISO
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ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant
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ClinVar |
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NCBI chrNW_004936506:1,678,069...1,687,632
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G
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Kif5a
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kinesin family member 5A
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susceptibility
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ISO
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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
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OMIM ClinVar |
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:31108397 PMID:31211173 PMID:31403080 PMID:31404076 PMID:31422367 PMID:31475037 PMID:33059505 PMID:33155544 PMID:33208543 PMID:33310205 PMID:34354735 PMID:34715294 PMID:34983064 PMID:35303589 PMID:35578252 PMID:35896380 PMID:37524782 PMID:37926714 PMID:39825153 More...
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NCBI chrNW_004936646:1,697,531...1,730,376
Ensembl chrNW_004936646:1,697,492...1,732,832
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G
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Nipa1
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NIPA magnesium transporter 1
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ISO
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ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936471:38,363,521...38,403,647
Ensembl chrNW_004936471:38,364,940...38,407,314
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G
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Reep1
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receptor accessory protein 1
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ISO
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ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant
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ClinVar |
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NCBI chrNW_004936712:1,186,565...1,241,829
Ensembl chrNW_004936712:1,206,276...1,241,301
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G
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Rtn2
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reticulon 2
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ISO
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ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant
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ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chrNW_004936706:1,913,852...1,922,982
Ensembl chrNW_004936706:1,913,842...1,922,772
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G
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Slc33a1
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solute carrier family 33 member 1
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ISO
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ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant
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ClinVar |
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NCBI chrNW_004936519:3,038,895...3,061,215
Ensembl chrNW_004936519:3,036,106...3,061,271
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G
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Spast
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spastin
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ISO
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ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant
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ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chrNW_004936493:1,283,754...1,342,592
Ensembl chrNW_004936493:1,283,729...1,343,390
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G
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Washc5
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WASH complex subunit 5
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ISO
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ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant
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ClinVar |
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NCBI chrNW_004936470:22,667,354...22,725,538
Ensembl chrNW_004936470:22,667,127...22,725,749
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G
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Zfyve27
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zinc finger FYVE-type containing 27
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ISO
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ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant
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ClinVar |
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NCBI chrNW_004936636:1,979,287...2,003,696
Ensembl chrNW_004936636:1,979,172...2,003,769
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G
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B2m
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beta-2-microglobulin
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 11
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936471:7,646,504...7,655,656
Ensembl chrNW_004936471:7,646,373...7,655,778
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G
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Brca1
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BRCA1 DNA repair associated
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ISO
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ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive
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ClinVar |
PMID:8644703 PMID:15146557 PMID:15591272 PMID:20104584 PMID:20345474 PMID:20507347 PMID:20569256 PMID:22009639 PMID:22032251 PMID:23149842 PMID:23199084 PMID:23274591 PMID:24033266 PMID:24504028 PMID:24770866 PMID:24797986 PMID:25741868 PMID:26295337 PMID:26467025 PMID:26681312 PMID:26689913 PMID:28492532 PMID:28831036 PMID:29339979 PMID:29446198 PMID:29492181 PMID:29625052 PMID:29684080 PMID:29758562 PMID:29785153 PMID:30040829 PMID:30322717 PMID:30720243 PMID:31159747 PMID:32295079 PMID:33471991 More...
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NCBI chrNW_004936490:17,735,444...17,801,456
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G
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Chat
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choline O-acetyltransferase
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ISO
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ClinVar Annotator: match by term: Gait disturbance
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ClinVar |
PMID:25741868 |
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NCBI chrNW_004936728:653,654...702,433
Ensembl chrNW_004936728:654,638...700,213
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G
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Eif3j
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eukaryotic translation initiation factor 3 subunit J
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 11
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ClinVar |
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NCBI chrNW_004936471:7,517,577...7,541,965
Ensembl chrNW_004936471:7,517,540...7,540,371
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G
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Gch1
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GTP cyclohydrolase 1
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ISO
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ClinVar Annotator: match by term: Gait disturbance
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ClinVar |
PMID:25741868 |
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NCBI chrNW_004936697:232,048...275,420
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G
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Patl2
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PAT1 homolog 2
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 11
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ClinVar |
PMID:19105190 PMID:20110243 PMID:22154821 PMID:26556829 PMID:28492532 |
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NCBI chrNW_004936471:7,618,841...7,630,214
Ensembl chrNW_004936471:7,620,215...7,630,214
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G
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Scn1a
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sodium voltage-gated channel alpha subunit 1
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ISO
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ClinVar Annotator: match by term: Gait disturbance
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936469:13,194,769...13,345,979
Ensembl chrNW_004936469:13,256,925...13,345,978
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G
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Slc25a13
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solute carrier family 25 member 13
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ISO
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ClinVar Annotator: match by term: SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, WITH MENTAL IMPAIRMENT AND THIN CORPUS CALLOSUM
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ClinVar |
PMID:21507300 PMID:23053473 PMID:24069319 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936585:4,061,297...4,215,912
Ensembl chrNW_004936585:4,058,877...4,215,942
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G
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Spg11
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SPG11 vesicle trafficking associated, spatacsin
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ISO
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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 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
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OMIM ClinVar |
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:22749184 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:32019516 PMID:32166880 PMID:32214227 PMID:32293029 PMID:32371905 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:34445196 PMID:34782662 PMID:34906502 PMID:35012964 PMID:35047667 PMID:35066644 PMID:35254204 PMID:35326432 PMID:35464835 PMID:35499206 PMID:35572931 PMID:35628876 PMID:35752680 PMID:35896380 PMID:35906604 PMID:36028943 PMID:36139378 PMID:36432490 PMID:37223130 PMID:37712079 PMID:39044379 PMID:39825153 More...
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NCBI chrNW_004936471:7,540,647...7,618,783
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G
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Tbr1
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T-box brain transcription factor 1
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ISO
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ClinVar Annotator: match by term: Gait disturbance
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ClinVar |
PMID:25741868 |
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NCBI chrNW_004936469:17,481,049...17,489,535
Ensembl chrNW_004936469:17,479,842...17,490,710
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G
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Trim69
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tripartite motif containing 69
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 11
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936471:7,664,655...7,702,243
Ensembl chrNW_004936471:7,665,218...7,702,243
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G
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Rtn2
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reticulon 2
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 12 | ClinVar Annotator: match by term: RTN2-related condition
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OMIM ClinVar |
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 chrNW_004936706:1,913,852...1,922,982
Ensembl chrNW_004936706:1,913,842...1,922,772
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G
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Hspd1
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heat shock protein family D (Hsp60) member 1
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 13
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OMIM ClinVar |
PMID:10677329 PMID:12483302 PMID:17072495 PMID:17420924 PMID:18414213 PMID:19423133 PMID:19494379 PMID:22552817 PMID:24033266 PMID:25326637 PMID:25341883 PMID:25741868 PMID:26467025 PMID:27251275 PMID:28492532 PMID:32433464 PMID:32570879 More...
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NCBI chrNW_004936506:1,678,069...1,687,632
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G
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Zfyve26
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zinc finger FYVE-type containing 26
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 15 | ClinVar Annotator: match by term: ZFYVE26-related condition
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OMIM ClinVar |
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:25326637 PMID:25497598 PMID:25525159 PMID:25741868 PMID:26467025 PMID:26492578 PMID:26633545 PMID:26944241 PMID:27217339 PMID:27544497 PMID:27679996 PMID:28213671 PMID:28362824 PMID:28492532 PMID:28832565 PMID:29246610 PMID:29590070 PMID:29858556 PMID:30555096 PMID:31069529 PMID:31108397 PMID:31690835 PMID:33144682 PMID:36315648 PMID:37091313 PMID:39825153 More...
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NCBI chrNW_004936495:11,132,025...11,191,446
Ensembl chrNW_004936495:11,134,138...11,190,863
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G
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Bscl2
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BSCL2 lipid droplet biogenesis associated, seipin
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ISO
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ClinVar Annotator: match by term: Autosomal dominant spastic paraplegia type 17 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 17 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA WITH AMYOTROPHY OF HANDS AND FEET
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OMIM ClinVar |
PMID:1674639 PMID:5964029 PMID:11479539 PMID:14557463 PMID:14981520 PMID:15126564 PMID:15732094 PMID:16427281 PMID:16574104 PMID:17387721 PMID:17486577 PMID:18585921 PMID:18612770 PMID:18690553 PMID:18790819 PMID:19226263 PMID:19396477 PMID:19762912 PMID:20598714 PMID:20806400 PMID:21126715 PMID:21750110 PMID:21957196 PMID:22045697 PMID:22474068 PMID:23142943 PMID:23292937 PMID:23553728 PMID:23564749 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:27612026 PMID:27632409 PMID:27738760 PMID:27862672 PMID:28362824 PMID:28492532 PMID:28916377 PMID:29269637 PMID:29478747 PMID:30903322 PMID:31372974 PMID:31475473 PMID:31770241 PMID:31824185 PMID:32320108 PMID:32397312 PMID:32792356 PMID:34085946 PMID:34232518 PMID:34942918 PMID:35351089 More...
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NCBI chrNW_004936581:567,426...576,859
Ensembl chrNW_004936581:567,662...578,267
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G
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Son
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SON DNA and RNA binding protein
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 17
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ClinVar |
PMID:25590979 PMID:25741868 PMID:25741875 PMID:27256762 PMID:27545676 PMID:27545680 PMID:28492532 PMID:34521999 More...
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NCBI chrNW_004936500:8,721,155...8,752,906
Ensembl chrNW_004936500:8,722,087...8,752,844
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G
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Erlin2
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ER lipid raft associated 2
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ISO
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ClinVar Annotator: match by term: ERLIN2-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 18 | ClinVar Annotator: match by term: Spastic paraplegia 18a, autosomal dominant
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OMIM ClinVar |
PMID:21330303 PMID:23109145 PMID:25741868 PMID:28492532 PMID:29528531 PMID:32042907 PMID:32094424 PMID:34734492 PMID:38607533 More...
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NCBI chrNW_004936710:1,193,679...1,210,059
Ensembl chrNW_004936710:1,193,411...1,210,739
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G
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Morf4l2
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mortality factor 4 like 2
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 2
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ClinVar |
PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 PMID:28492532 More...
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NCBI chrNW_004936499:10,636,711...10,647,442
Ensembl chrNW_004936499:10,636,776...10,647,442
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G
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Plp1
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proteolipid protein 1
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ISO
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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
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OMIM ClinVar |
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:8780101 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:16288477 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:25156430 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:29486744 PMID:30104812 PMID:30195779 PMID:30314286 PMID:30337681 PMID:31110947 PMID:31448840 PMID:33450882 PMID:33504798 PMID:34782662 PMID:35012964 PMID:36622199 More...
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NCBI chrNW_004936499:10,534,953...10,553,411
Ensembl chrNW_004936499:10,534,950...10,551,012
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G
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Rab9b
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RAB9B, member RAS oncogene family
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ISO
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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
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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:8780101 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:16288477 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:25156430 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:29486744 PMID:30104812 PMID:30195779 PMID:30314286 PMID:30337681 PMID:31110947 PMID:33450882 PMID:33504798 PMID:34782662 PMID:35012964 PMID:36622199 More...
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NCBI chrNW_004936499:10,501,837...10,506,793
Ensembl chrNW_004936499:10,437,611...10,504,320
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G
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Spast
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spastin
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 2
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ClinVar |
PMID:25741868 |
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NCBI chrNW_004936493:1,283,754...1,342,592
Ensembl chrNW_004936493:1,283,729...1,343,390
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G
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Tceal1
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transcription elongation factor A like 1
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 2
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ClinVar |
PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 PMID:28492532 More...
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NCBI chrNW_004936499:10,671,607...10,673,712
Ensembl chrNW_004936499:10,671,595...10,673,431
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G
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Tceal3
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transcription elongation factor A like 3
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 2
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ClinVar |
PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 PMID:28492532 More...
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NCBI chrNW_004936499:10,710,694...10,712,884
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G
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Tceal4
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transcription elongation factor A like 4
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 2
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ClinVar |
PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 PMID:28492532 More...
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NCBI chrNW_004936499:10,740,406...10,742,748
Ensembl chrNW_004936499:10,741,053...10,741,631
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G
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Tmsb15b
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thymosin beta 15B
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 2
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ClinVar |
PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 PMID:28492532 More...
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NCBI chrNW_004936499:10,315,198...10,318,382
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G
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Dstyk
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dual serine/threonine and tyrosine protein kinase
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ISO
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ClinVar Annotator: match by term: DSTYK-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 23
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OMIM ClinVar |
PMID:17273976 PMID:23862974 PMID:25741868 PMID:27657687 PMID:28492532 PMID:28566479 PMID:33624863 More...
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NCBI chrNW_004936557:7,191,377...7,243,489
Ensembl chrNW_004936557:7,191,082...7,239,816
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G
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B4galnt1
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beta-1,4-N-acetyl-galactosaminyltransferase 1
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ISO
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ClinVar Annotator: match by term: B4GALNT1-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 26
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OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23746551 PMID:25741868 PMID:28492532 PMID:28709807 PMID:29983310 PMID:30521973 PMID:31812852 PMID:32214227 PMID:39825153 More...
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NCBI chrNW_004936646:1,770,412...1,777,152
Ensembl chrNW_004936646:1,770,930...1,777,173
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G
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Bmp4
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bone morphogenetic protein 4
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 28
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936697:1,054,237...1,061,468
Ensembl chrNW_004936697:1,056,636...1,061,468
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G
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Ddhd1
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DDHD domain containing 1
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ISO
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ClinVar Annotator: match by term: DDHD1-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 28
|
OMIM ClinVar |
PMID:9536098 PMID:15786464 PMID:17576681 PMID:23176821 PMID:24989667 PMID:25741868 PMID:26637979 PMID:26944165 PMID:27216551 PMID:27999540 PMID:28492532 PMID:28818478 More...
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NCBI chrNW_004936697:1,786,023...1,863,084
Ensembl chrNW_004936697:1,786,017...1,860,614
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G
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Agxt
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alanine--glyoxylate and serine--pyruvate aminotransferase
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 30
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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 chrNW_004936745:856,915...867,477
Ensembl chrNW_004936745:857,102...867,477
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G
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Ankmy1
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ankyrin repeat and MYND domain containing 1
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 30
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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 chrNW_004936745:1,068,235...1,106,137
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G
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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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|
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G
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Asb1
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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 chrNW_004936525:79,568...94,147
Ensembl chrNW_004936525:84,907...97,210
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G
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Atg4b
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autophagy related 4B cysteine peptidase
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30
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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 chrNW_004936745:291,311...308,469
Ensembl chrNW_004936745:292,746...307,746
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G
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Bok
|
BCL2 family apoptosis regulator BOK
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30
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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 chrNW_004936745:344,837...350,950
Ensembl chrNW_004936745:345,635...351,749
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G
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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 chrNW_004936745:1,029,514...1,039,524
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G
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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 chrNW_004936525:905,419...983,486
Ensembl chrNW_004936525:921,725...983,377
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G
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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 chrNW_004936745:1,291,702...1,295,834
|
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G
|
D2hgdh
|
D-2-hydroxyglutarate dehydrogenase
|
|
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...
|
|
NCBI chrNW_004936745:208,510...234,056
Ensembl chrNW_004936745:208,513...234,118
|
|
G
|
Dtymk
|
deoxythymidylate kinase
|
|
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...
|
|
NCBI chrNW_004936745:282,199...289,273
|
|
G
|
Dusp28
|
dual specificity phosphatase 28
|
|
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...
|
|
NCBI chrNW_004936745:1,063,365...1,064,590
Ensembl chrNW_004936745:1,063,359...1,064,826
|
|
G
|
Erfe
|
erythroferrone
|
|
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...
|
|
NCBI chrNW_004936525:324,814...330,067
Ensembl chrNW_004936525:323,090...329,664
|
|
G
|
Espnl
|
espin like
|
|
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...
|
|
NCBI chrNW_004936525:352,389...380,214
Ensembl chrNW_004936525:352,389...380,214
|
|
G
|
Farp2
|
FERM, ARH/RhoGEF and pleckstrin domain protein 2
|
|
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...
|
|
NCBI chrNW_004936745:427,093...504,653
Ensembl chrNW_004936745:426,846...504,672
|
|
G
|
Gal3st2
|
galactose-3-O-sulfotransferase 2
|
|
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...
|
|
|
|
G
|
Gpc1
|
glypican 1
|
|
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...
|
|
NCBI chrNW_004936745:1,118,732...1,127,169
|
|
G
|
Gpr35
|
G protein-coupled receptor 35
|
|
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...
|
|
NCBI chrNW_004936745:993,375...994,292
Ensembl chrNW_004936745:993,375...994,373
|
|
G
|
Hdac4
|
histone deacetylase 4
|
|
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...
|
|
NCBI chrNW_004936745:1,730,743...1,942,071
Ensembl chrNW_004936745:1,730,694...1,942,074
|
|
G
|
Hdlbp
|
high density lipoprotein binding protein
|
|
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...
|
|
NCBI chrNW_004936745:555,020...608,572
Ensembl chrNW_004936745:555,710...607,135
|
|
G
|
Hes6
|
hes family bHLH transcription factor 6
|
|
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...
|
|
NCBI chrNW_004936525:267,791...269,511
Ensembl chrNW_004936525:267,753...269,527
|
|
G
|
Ilkap
|
ILK associated serine/threonine phosphatase
|
|
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...
|
|
NCBI chrNW_004936525:303,436...322,677
Ensembl chrNW_004936525:303,499...322,563
|
|
G
|
Ing5
|
inhibitor of growth family member 5
|
|
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...
|
|
NCBI chrNW_004936745:261,371...271,447
Ensembl chrNW_004936745:261,450...271,943
|
|
G
|
Kif1a
|
kinesin family member 1A
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30
|
ClinVar |
PMID:9536098 PMID:16081310 PMID:16199547 PMID:16434418 PMID:17576681 PMID:18414213 PMID:20020533 PMID:20691407 PMID:21376300 PMID:21384162 PMID:21487076 PMID:21820098 PMID:22258533 PMID:24088041 PMID:24715439 PMID:25140959 PMID:25253658 PMID:25265257 PMID:25326635 PMID:25356899 PMID:25533962 PMID:25585697 PMID:25640679 PMID:25741868 PMID:25852444 PMID:26125038 PMID:26350204 PMID:26354034 PMID:26410750 PMID:26467025 PMID:26486474 PMID:26633545 PMID:26752160 PMID:26994895 PMID:27034427 PMID:27124789 PMID:27146152 PMID:27681307 PMID:27956632 PMID:28106320 PMID:28333917 PMID:28362824 PMID:28492532 PMID:28554332 PMID:28708303 PMID:28832565 PMID:28834584 PMID:28927378 PMID:28970574 PMID:29159194 PMID:29589274 PMID:29590070 PMID:29691679 PMID:29908077 PMID:29915382 PMID:29934652 PMID:29970176 PMID:30144970 PMID:30385166 PMID:30564185 PMID:30582020 PMID:30778698 PMID:30848064 PMID:31069529 PMID:31227335 PMID:31455732 PMID:31488895 PMID:31616253 PMID:31628766 PMID:31700678 PMID:31734026 PMID:31785789 PMID:31796088 PMID:31805580 PMID:31813911 PMID:32096284 PMID:32174959 PMID:32343762 PMID:32631363 PMID:32737135 PMID:32746806 PMID:32860008 PMID:32935419 PMID:33057194 PMID:33717719 PMID:33753861 PMID:33880452 PMID:34234304 PMID:34354735 PMID:34356170 PMID:34487232 PMID:34630504 PMID:34782662 PMID:34983064 PMID:35132656 PMID:35303589 PMID:35322241 PMID:36284339 PMID:37541188 PMID:37712079 PMID:38105687 PMID:38703036 PMID:39076207 PMID:39825153 More...
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|
NCBI chrNW_004936745:911,651...976,878
Ensembl chrNW_004936745:911,709...974,199
|
|
G
|
Klhl30
|
kelch like family member 30
|
|
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...
|
|
NCBI chrNW_004936525:337,473...347,860
Ensembl chrNW_004936525:337,308...347,906
|
|
G
|
LOC101961398
|
olfactory receptor 6B3
|
|
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...
|
|
NCBI chrNW_004936745:1,402,693...1,412,517
|
|
G
|
Lrrfip1
|
LRR binding FLII interacting protein 1
|
|
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...
|
|
NCBI chrNW_004936525:593,048...663,066
Ensembl chrNW_004936525:593,054...662,958
|
|
G
|
Mab21l4
|
mab-21 like 4
|
|
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...
|
|
NCBI chrNW_004936745:845,240...852,776
Ensembl chrNW_004936745:844,883...852,803
|
|
G
|
Mlph
|
melanophilin
|
|
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...
|
|
NCBI chrNW_004936525:776,102...821,067
Ensembl chrNW_004936525:775,955...821,085
|
|
G
|
Mterf4
|
mitochondrial transcription termination factor 4
|
|
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...
|
|
NCBI chrNW_004936745:705,448...709,429
|
|
G
|
Ndufa10
|
NADH:ubiquinone oxidoreductase subunit A10
|
|
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...
|
|
NCBI chrNW_004936745:1,436,257...1,471,785
Ensembl chrNW_004936745:1,436,234...1,471,843
|
|
G
|
Neu4
|
neuraminidase 4
|
|
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...
|
|
NCBI chrNW_004936745:172,983...175,470
|
|
G
|
Otos
|
otospiralin
|
|
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...
|
|
NCBI chrNW_004936745:1,287,653...1,290,342
Ensembl chrNW_004936745:1,289,041...1,290,077
|
|
G
|
Pask
|
PAS domain containing serine/threonine kinase
|
|
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...
|
|
NCBI chrNW_004936745:664,062...704,027
|
|
G
|
Pdcd1
|
programmed cell death 1
|
|
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...
|
|
NCBI chrNW_004936745:152,571...163,712
Ensembl chrNW_004936745:152,612...161,587
|
|
G
|
Per2
|
period circadian regulator 2
|
|
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...
|
|
NCBI chrNW_004936525:221,601...263,284
Ensembl chrNW_004936525:221,510...263,295
|
|
G
|
Ppp1r7
|
protein phosphatase 1 regulatory subunit 7
|
|
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...
|
|
NCBI chrNW_004936745:639,379...663,926
|
|
G
|
Prlh
|
prolactin releasing hormone
|
|
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...
|
|
Ensembl chrNW_004936525:770,177...770,863
|
|
G
|
Rab17
|
RAB17, member RAS oncogene family
|
|
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...
|
|
NCBI chrNW_004936525:748,851...765,636
Ensembl chrNW_004936525:748,600...765,642
|
|
G
|
Ramp1
|
receptor activity modifying protein 1
|
|
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...
|
|
NCBI chrNW_004936525:503,119...540,159
Ensembl chrNW_004936525:503,070...540,281
|
|
G
|
Rbm44
|
RNA binding motif protein 44
|
|
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...
|
|
NCBI chrNW_004936525:556,497...585,503
Ensembl chrNW_004936525:556,513...569,589
|
|
G
|
Rnpepl1
|
arginyl aminopeptidase like 1
|
|
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...
|
|
NCBI chrNW_004936745:1,049,917...1,058,817
Ensembl chrNW_004936745:1,049,924...1,058,825
|
|
G
|
Scly
|
selenocysteine lyase
|
|
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...
|
|
NCBI chrNW_004936525:381,188...407,544
Ensembl chrNW_004936525:381,168...407,599
|
|
G
|
Septin2
|
septin 2
|
|
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...
|
|
NCBI chrNW_004936745:518,650...555,187
Ensembl chrNW_004936745:518,391...546,953
|
|
G
|
Sned1
|
sushi, nidogen and EGF like domains 1
|
|
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...
|
|
NCBI chrNW_004936745:709,446...761,932
Ensembl chrNW_004936745:714,368...776,355
|
|
G
|
Stk25
|
serine/threonine kinase 25
|
|
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...
|
|
NCBI chrNW_004936745:420,591...426,890
Ensembl chrNW_004936745:420,073...426,393
|
|
G
|
Thap4
|
THAP domain containing 4
|
|
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...
|
|
NCBI chrNW_004936745:324,988...338,257
Ensembl chrNW_004936745:316,748...338,142
|
|
G
|
Traf3ip1
|
TRAF3 interacting protein 1
|
|
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...
|
|
NCBI chrNW_004936525:115,614...174,641
Ensembl chrNW_004936525:115,479...174,694
|
|
G
|
Twist2
|
twist family bHLH transcription factor 2
|
|
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...
|
|
NCBI chrNW_004936745:2,067,272...2,067,948
Ensembl chrNW_004936745:2,028,286...2,067,948
|
|
G
|
Ube2f
|
ubiquitin conjugating enzyme E2 F (putative)
|
|
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...
|
|
NCBI chrNW_004936525:418,554...472,850
|
|
|
G
|
Atoh8
|
atonal bHLH transcription factor 8
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31
|
ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
|
|
NCBI chrNW_004936712:1,529,508...1,552,148
Ensembl chrNW_004936712:1,529,420...1,552,185
|
|
G
|
CUNH2orf68
|
chromosome unknown C2orf68 homolog
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31
|
ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
|
|
NCBI chrNW_004936712:1,663,700...1,665,075
Ensembl chrNW_004936712:1,663,700...1,665,081
|
|
G
|
Ggcx
|
gamma-glutamyl carboxylase
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31
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ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chrNW_004936712:1,696,264...1,709,087
Ensembl chrNW_004936712:1,699,750...1,709,087
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G
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Immt
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inner membrane mitochondrial protein
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 31
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ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chrNW_004936712:1,257,427...1,301,045
Ensembl chrNW_004936712:1,257,575...1,300,729
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G
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Mat2a
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methionine adenosyltransferase 2A
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 31
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ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chrNW_004936712:1,710,513...1,717,339
Ensembl chrNW_004936712:1,709,716...1,717,499
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G
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Mrpl35
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mitochondrial ribosomal protein L35
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 31
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ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chrNW_004936712:1,247,819...1,254,754
Ensembl chrNW_004936712:1,243,474...1,254,808
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G
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Polr1a
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RNA polymerase I subunit A
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 31
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ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chrNW_004936712:1,331,016...1,390,544
Ensembl chrNW_004936712:1,331,073...1,389,856
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G
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Ptcd3
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pentatricopeptide repeat domain 3
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 31
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ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chrNW_004936712:1,305,085...1,330,705
Ensembl chrNW_004936712:1,305,054...1,330,757
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G
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Reep1
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receptor accessory protein 1
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spastic paraplegia 31, autosomal dominant
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OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:16826527 PMID:17576681 PMID:18321925 PMID:18644145 PMID:19034539 PMID:19072839 PMID:20200447 PMID:20718791 PMID:21618648 PMID:22062632 PMID:22703882 PMID:23108492 PMID:23400676 PMID:23812641 PMID:24051375 PMID:24098485 PMID:24451228 PMID:24478229 PMID:24604904 PMID:24986827 PMID:25025039 PMID:25525159 PMID:25640679 PMID:25741868 PMID:26201691 PMID:26392352 PMID:26467025 PMID:26671083 PMID:27066569 PMID:28362824 PMID:28492532 PMID:29124833 PMID:29629531 PMID:30373780 PMID:30564185 PMID:30637453 PMID:31872057 PMID:32501971 PMID:32581362 PMID:32655478 PMID:39825153 More...
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NCBI chrNW_004936712:1,186,565...1,241,829
Ensembl chrNW_004936712:1,206,276...1,241,301
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G
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Rnf181
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ring finger protein 181
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 31
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ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chrNW_004936712:1,673,977...1,676,601
Ensembl chrNW_004936712:1,670,472...1,676,580
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G
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Sftpb
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surfactant protein B
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 31
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ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chrNW_004936712:1,614,979...1,621,207
Ensembl chrNW_004936712:1,614,979...1,622,466
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G
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St3gal5
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ST3 beta-galactoside alpha-2,3-sialyltransferase 5
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 31
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ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chrNW_004936712:1,458,637...1,496,118
Ensembl chrNW_004936712:1,482,002...1,499,064
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G
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Tmem150a
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transmembrane protein 150A
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 31
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ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chrNW_004936712:1,670,485...1,674,019
Ensembl chrNW_004936712:1,670,472...1,675,708
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G
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Usp39
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ubiquitin specific peptidase 39
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 31
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ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chrNW_004936712:1,625,429...1,661,561
Ensembl chrNW_004936712:1,625,802...1,661,533
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G
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Vamp5
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vesicle associated membrane protein 5
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 31
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ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chrNW_004936712:1,679,276...1,686,157
Ensembl chrNW_004936712:1,679,232...1,686,268
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G
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Vamp8
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vesicle associated membrane protein 8
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 31
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ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chrNW_004936712:1,688,126...1,689,742
Ensembl chrNW_004936712:1,688,093...1,689,816
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G
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Atp13a2
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ATPase cation transporting 13A2
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ISO
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ClinVar Annotator: match by term: Spastic tetraparesis
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ClinVar |
PMID:25741868 |
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NCBI chrNW_004936474:3,968,216...3,980,821
Ensembl chrNW_004936474:3,968,506...3,980,815
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G
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Zfyve27
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zinc finger FYVE-type containing 27
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 33 | ClinVar Annotator: match by term: Spastic tetraparesis | ClinVar Annotator: match by term: ZFYVE27-related condition
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ClinVar |
PMID:16826525 PMID:18606302 PMID:24668814 PMID:25741868 PMID:28492532 PMID:30564185 More...
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NCBI chrNW_004936636:1,979,287...2,003,696
Ensembl chrNW_004936636:1,979,172...2,003,769
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G
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Fa2h
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fatty acid 2-hydroxylase
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ISO
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ClinVar Annotator: match by term: FA2H-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 35
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OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19068277 PMID:20104589 PMID:20853438 PMID:21592092 PMID:22146942 PMID:22965561 PMID:23566484 PMID:23745665 PMID:24033266 PMID:24299421 PMID:24833714 PMID:25326637 PMID:25356970 PMID:25496456 PMID:25732363 PMID:25741868 PMID:26344562 PMID:26467025 PMID:27217339 PMID:27316240 PMID:27884168 PMID:27957547 PMID:28017243 PMID:28492532 PMID:29376581 PMID:29423566 PMID:29980238 PMID:30446360 PMID:30532373 PMID:30713878 PMID:31130284 PMID:31135052 PMID:31227335 PMID:31407473 PMID:31429931 PMID:31628766 PMID:31690835 PMID:32619247 PMID:32624042 PMID:32907636 PMID:33059505 PMID:33083013 PMID:33144682 PMID:33246395 PMID:34445196 PMID:34852264 PMID:34983064 PMID:35578252 PMID:35872528 PMID:36109173 PMID:37410270 PMID:38127101 More...
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NCBI chrNW_004936475:23,625,023...23,675,211
Ensembl chrNW_004936475:23,624,969...23,675,235
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G
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LOC101973126
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cytochrome P450 2U1
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ISO
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ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE, WITH OR WITHOUT NEURODEGENERATION
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ClinVar |
PMID:16783378 PMID:20301718 PMID:21735565 PMID:23176821 PMID:26936192 PMID:27292318 PMID:28492532 PMID:33107650 More...
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NCBI chrNW_004936818:650,593...672,349
Ensembl chrNW_004936818:650,589...672,355
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G
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Arhgef18
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Rho/Rac guanine nucleotide exchange factor 18
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 39
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936588:4,522,517...4,572,551
Ensembl chrNW_004936588:4,514,691...4,572,518
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G
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Mcoln1
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mucolipin TRP cation channel 1
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 39
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ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chrNW_004936588:4,600,344...4,608,793
Ensembl chrNW_004936588:4,600,344...4,608,787
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G
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Pex11g
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peroxisomal biogenesis factor 11 gamma
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 39
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936588:4,574,220...4,580,195
Ensembl chrNW_004936588:4,574,612...4,580,222
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G
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Pnpla6
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patatin like domain 6, lysophospholipase
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 | ClinVar Annotator: match by term: NTE related motor neuron disorder | ClinVar Annotator: match by term: Spastic paraplegia 39
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OMIM ClinVar |
PMID:2557489 PMID:3963113 PMID:8053762 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18313024 PMID:20603202 PMID:23733235 PMID:24355708 PMID:25033069 PMID:25133958 PMID:25267340 PMID:25299038 PMID:25359264 PMID:25480986 PMID:25574898 PMID:25741868 PMID:26467025 PMID:26995604 PMID:27866050 PMID:28492532 PMID:28559085 PMID:29221171 PMID:29248984 PMID:29749493 PMID:30015775 PMID:30097146 PMID:30555943 PMID:30564185 PMID:31048186 PMID:31135245 PMID:31712030 PMID:31780887 PMID:31964843 PMID:32579787 PMID:32586184 PMID:32623594 PMID:32758583 PMID:32870266 PMID:33141049 PMID:33210227 PMID:34103343 PMID:34234304 PMID:34256108 PMID:34426522 PMID:34445196 PMID:34816117 PMID:35069422 PMID:35198007 PMID:35872528 PMID:36825042 PMID:38703036 PMID:38735647 PMID:39825153 More...
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NCBI chrNW_004936588:4,608,856...4,632,198
Ensembl chrNW_004936588:4,608,963...4,632,183
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G
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Saxo5
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stabilizer of axonemal microtubules 5
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 39
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936588:4,585,737...4,589,892
Ensembl chrNW_004936588:4,585,951...4,589,865
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G
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Znf358
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zinc finger protein 358
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 39
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936588:4,592,060...4,598,775
Ensembl chrNW_004936588:4,597,045...4,598,700
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G
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Atl1
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atlastin GTPase 1
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A
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OMIM ClinVar |
PMID:2720292 PMID:4684346 PMID:8252041 PMID:8981948 PMID:9246006 PMID:9341882 PMID:9536098 PMID:10739752 PMID:11685207 PMID:12112092 PMID:12499504 PMID:12939451 PMID:14506257 PMID:14607301 PMID:14695538 PMID:15184642 PMID:15477516 PMID:15517445 PMID:15596607 PMID:15742100 PMID:15981243 PMID:16199547 PMID:16401858 PMID:16533974 PMID:16537571 PMID:16612642 PMID:17285536 PMID:17321752 PMID:17380240 PMID:17427918 PMID:17502470 PMID:17531128 PMID:17576681 PMID:17992088 PMID:18256395 PMID:19423133 PMID:19459885 PMID:19652243 PMID:19735987 PMID:19768483 PMID:20718791 PMID:20816793 PMID:20862796 PMID:20932283 PMID:20947813 PMID:21194679 PMID:21208200 PMID:21220294 PMID:21321493 PMID:21336785 PMID:21368113 PMID:21494555 PMID:22552817 PMID:22581552 PMID:23079343 PMID:23108492 PMID:23233086 PMID:23334294 PMID:23400676 PMID:23483706 PMID:23664116 PMID:23664119 PMID:23664120 PMID:23684613 PMID:23999326 PMID:24002164 PMID:24100245 PMID:24417445 PMID:24451228 PMID:24473461 PMID:24482476 PMID:24604904 PMID:24969372 PMID:25193411 PMID:25326635 PMID:25341883 PMID:25637064 PMID:25640679 PMID:25741868 PMID:25741869 PMID:25761634 PMID:26208798 PMID:26374131 PMID:26467025 PMID:26600529 PMID:26633542 PMID:26671083 PMID:26888483 PMID:26986070 PMID:27108959 PMID:27217339 PMID:27751653 PMID:27993330 PMID:28240257 PMID:28396731 PMID:28492532 PMID:28736820 PMID:29691679 PMID:29758562 PMID:29907907 PMID:29934652 PMID:29980238 PMID:30008475 PMID:30666337 PMID:30773365 PMID:30778698 PMID:30780198 PMID:31216405 PMID:31227335 PMID:31236401 PMID:31589614 PMID:31594988 PMID:31630374 PMID:31920481 PMID:32322428 PMID:32488064 PMID:32581362 PMID:32860008 PMID:32989326 PMID:33057194 PMID:34546351 PMID:34715294 PMID:34782662 PMID:34808209 PMID:34983064 PMID:36109173 PMID:37152446 PMID:37712079 PMID:39825153 More...
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NCBI chrNW_004936495:14,984,761...15,053,188
Ensembl chrNW_004936495:14,984,336...15,040,597
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G
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Bicd2
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BICD cargo adaptor 2
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A
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ClinVar |
PMID:11241493 PMID:21208200 PMID:23664120 PMID:28492532 |
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NCBI chrNW_004936487:2,287,736...2,335,674
Ensembl chrNW_004936487:2,255,882...2,335,731
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G
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Map4k5
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mitogen-activated protein kinase kinase kinase kinase 5
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A
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ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chrNW_004936495:15,053,275...15,159,011
Ensembl chrNW_004936495:15,053,275...15,159,011
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G
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Birc6
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baculoviral IAP repeat containing 6
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 4
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ClinVar |
PMID:25065914 PMID:25741868 |
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NCBI chrNW_004936493:903,295...1,115,434
Ensembl chrNW_004936493:899,961...1,115,493
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G
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Col3a1
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collagen type III alpha 1 chain
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 4
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ClinVar |
PMID:25741868 |
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NCBI chrNW_004936506:8,886,494...8,923,921
Ensembl chrNW_004936506:8,886,494...8,923,930
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G
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Dpy30
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dpy-30 histone methyltransferase complex regulatory subunit
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 4
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ClinVar |
PMID:25065914 PMID:28492532 |
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NCBI chrNW_004936493:1,378,104...1,390,414
Ensembl chrNW_004936493:1,377,682...1,391,102
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G
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Fgg
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fibrinogen gamma chain
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 4
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ClinVar |
PMID:25741868 |
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NCBI chrNW_004936576:1,343,657...1,352,085
Ensembl chrNW_004936576:1,343,661...1,352,143
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G
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LOC101971027
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neuroendocrine secretory protein 55
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ISO
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ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant
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ClinVar |
PMID:8388883 PMID:23281139 PMID:25741868 PMID:25802881 PMID:28492532 PMID:29072892 PMID:34008892 More...
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NCBI chrNW_004936530:1,353,432...1,407,437
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G
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Ltbp1
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latent transforming growth factor beta binding protein 1
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 4
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ClinVar |
PMID:25065914 |
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NCBI chrNW_004936493:253,390...640,140
Ensembl chrNW_004936493:253,216...640,140
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G
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Memo1
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mediator of cell motility 1
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 4
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936493:1,396,106...1,506,716
Ensembl chrNW_004936493:1,449,152...1,506,716
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G
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Nlrc4
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NLR family CARD domain containing 4
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 4
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ClinVar |
PMID:25065914 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936493:1,189,940...1,233,408
Ensembl chrNW_004936493:1,206,374...1,237,412
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G
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Ofd1
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OFD1 centriole and centriolar satellite protein
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 4
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ClinVar |
PMID:9990351 PMID:10999831 PMID:25741868 |
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NCBI chrNW_004936470:3,292,961...3,331,915
Ensembl chrNW_004936470:3,292,249...3,331,800
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G
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Phf6
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PHD finger protein 6
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 4
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ClinVar |
PMID:12415272 PMID:15994862 PMID:25741868 PMID:25741869 PMID:28492532 |
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NCBI chrNW_004936691:716,723...767,960
Ensembl chrNW_004936691:716,697...768,016
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G
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Slc30a6
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solute carrier family 30 member 6
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 4
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ClinVar |
PMID:25065914 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936493:1,235,162...1,279,812
Ensembl chrNW_004936493:1,232,546...1,279,855
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G
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Spast
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spastin
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ISO
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ClinVar Annotator: match by term: Familial spastic paraplegia autosomal dominant 2 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 | ClinVar Annotator: match by term: Spastic paraplegia 4, modifier of ClinVar Annotator: match by term: Familial spastic paraplegia autosomal dominant 2 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 | ClinVar Annotator: match by term: SPAST-related condition | ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant | ClinVar Annotator: match by term: Spastic paraplegia 4, modifier of
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OMIM ClinVar |
PMID:2504538 PMID:9536098 PMID:9695811 PMID:10493830 PMID:10610178 PMID:10699187 PMID:10980739 PMID:11015453 PMID:11039577 PMID:11087788 PMID:11134375 PMID:11309678 PMID:11359470 PMID:11704932 PMID:11809724 PMID:11843700 PMID:11985387 PMID:12023066 PMID:12124993 PMID:12161613 PMID:12163196 PMID:12202986 PMID:12460147 PMID:12471215 PMID:12552568 PMID:12736085 PMID:12939659 PMID:14732620 PMID:15095758 PMID:15159500 PMID:15210521 PMID:15248095 PMID:15269182 PMID:15326248 PMID:15482961 PMID:15637712 PMID:15667412 PMID:15716377 PMID:15841487 PMID:16009377 PMID:16009769 PMID:16055926 PMID:16199547 PMID:16240363 PMID:16476945 PMID:16682546 PMID:16684598 PMID:16788734 PMID:16832076 PMID:17035675 PMID:17098887 PMID:17100993 PMID:17345589 PMID:17560499 PMID:17576681 PMID:17594340 PMID:17597328 PMID:17598599 PMID:17598600 PMID:17690846 PMID:17895902 PMID:17916079 PMID:17957230 PMID:17971434 PMID:18202664 PMID:18410514 PMID:18608088 PMID:18613979 PMID:18664244 PMID:18701882 PMID:18975132 PMID:19289482 PMID:19423133 PMID:19438933 PMID:19494379 PMID:19730024 PMID:19763152 PMID:19875132 PMID:20154342 PMID:20214791 PMID:20301339 PMID:20307669 PMID:20430936 PMID:20491894 PMID:20550563 PMID:20559269 PMID:20562464 PMID:20665701 PMID:20718791 PMID:20843780 PMID:20932283 PMID:21546041 PMID:21659953 PMID:21834905 PMID:21888932 PMID:21896784 PMID:22027136 PMID:22203332 PMID:22406018 PMID:22552817 PMID:22817815 PMID:22960362 PMID:23238845 PMID:23252998 PMID:23264559 PMID:23279441 PMID:23400676 PMID:23833562 PMID:24033003 PMID:24033266 PMID:24215330 PMID:24381312 PMID:24417445 PMID:24451228 PMID:24453961 PMID:24478365 PMID:24648003 PMID:24690193 PMID:24731568 PMID:24824479 PMID:25045380 PMID:25065914 PMID:25131622 PMID:25326635 PMID:25326637 PMID:25341883 PMID:25421405 PMID:25454648 PMID:25525159 PMID:25640679 PMID:25658484 PMID:25741868 PMID:25741869 PMID:26086985 PMID:26094131 PMID:26165777 PMID:26208798 PMID:26297558 PMID:26374131 PMID:26467025 PMID:26600529 PMID:26671083 PMID:26986070 PMID:27077743 PMID:27084228 PMID:27108959 PMID:27260292 PMID:27276562 PMID:27334366 PMID:27688599 PMID:27789400 PMID:27871443 PMID:27942873 PMID:27957547 PMID:28160950 PMID:28492532 PMID:28495799 PMID:28572275 PMID:29112992 PMID:29246610 PMID:29389947 PMID:29421991 PMID:29691679 PMID:29761117 PMID:29907907 PMID:29908077 PMID:29934652 PMID:29980238 PMID:30006150 PMID:30008175 PMID:30375765 PMID:30476002 PMID:30489674 PMID:30520996 PMID:30528841 PMID:30564185 PMID:30737580 PMID:30747022 PMID:30778698 PMID:30780198 PMID:30937429 PMID:31134136 PMID:31157359 PMID:31227335 PMID:31285604 PMID:31407473 PMID:31594988 PMID:31630374 PMID:31692161 PMID:31751864 PMID:31851166 PMID:32092540 PMID:32522921 PMID:32650125 PMID:32655478 PMID:32908740 PMID:32979422 PMID:32989326 PMID:33084218 PMID:33098801 PMID:33179235 PMID:33397523 PMID:33446253 PMID:33480217 PMID:33589474 PMID:33624935 PMID:33638609 PMID:33770234 PMID:34008892 PMID:34114234 PMID:34353391 PMID:34445196 PMID:34507445 PMID:34531397 PMID:34715294 PMID:34753439 PMID:34816117 PMID:34906502 PMID:34950521 PMID:34983064 PMID:35020098 PMID:35082646 PMID:35303589 PMID:35487127 PMID:35578252 PMID:35896380 PMID:36109173 PMID:36139378 PMID:36359747 PMID:36825575 PMID:37091313 PMID:37144097 PMID:37251230 PMID:37453004 PMID:37473796 PMID:37563452 PMID:37712079 PMID:38145127 PMID:38272032 PMID:38403837 PMID:38631813 PMID:39825153 More...
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NCBI chrNW_004936493:1,283,754...1,342,592
Ensembl chrNW_004936493:1,283,729...1,343,390
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G
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Srd5a2
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steroid 5 alpha-reductase 2
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 4
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936493:1,663,999...1,708,530
Ensembl chrNW_004936493:1,663,911...1,708,502
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G
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Tcf4
|
transcription factor 4
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 4
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ClinVar |
PMID:25741868 |
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NCBI chrNW_004936497:8,410,882...8,765,678
Ensembl chrNW_004936497:8,410,860...8,764,296
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G
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Trappc2
|
trafficking protein particle complex subunit 2
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 4
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ClinVar |
PMID:9990351 PMID:10999831 PMID:25741868 |
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NCBI chrNW_004936470:3,278,415...3,292,905
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G
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Ttc27
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tetratricopeptide repeat domain 27
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 4
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ClinVar |
PMID:25065914 PMID:25741868 |
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NCBI chrNW_004936493:736,303...889,951
Ensembl chrNW_004936493:735,267...889,951
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G
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Xdh
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xanthine dehydrogenase
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 4
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936493:1,762,814...1,824,501
Ensembl chrNW_004936493:1,762,869...1,823,238
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G
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Yipf4
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Yip1 domain family member 4
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 4
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ClinVar |
PMID:25065914 PMID:25741868 |
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NCBI chrNW_004936493:1,152,459...1,177,964
Ensembl chrNW_004936493:1,151,979...1,177,983
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G
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Slc33a1
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solute carrier family 33 member 1
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 42
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OMIM ClinVar |
PMID:19061983 PMID:24583203 PMID:25402622 PMID:25741868 PMID:26467025 PMID:28492532 PMID:35588347 More...
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NCBI chrNW_004936519:3,038,895...3,061,215
Ensembl chrNW_004936519:3,036,106...3,061,271
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G
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CUNH19orf12
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chromosome unknown C19orf12 homolog
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 43 | ClinVar Annotator: match by term: Spastic paraplegia 43, autosomal recessive
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OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:18414213 PMID:20039086 PMID:21981780 PMID:22584950 PMID:23166001 PMID:23269600 PMID:23278385 PMID:23436634 PMID:23494994 PMID:23857908 PMID:24033266 PMID:24209434 PMID:24361204 PMID:25558065 PMID:25592411 PMID:25741868 PMID:26187298 PMID:27112773 PMID:27801611 PMID:28347615 PMID:28492532 PMID:28641177 PMID:28832565 PMID:29915382 PMID:30088953 PMID:30369941 PMID:30392167 PMID:31087512 PMID:31105013 PMID:31804703 PMID:31970231 PMID:32552793 PMID:32581362 PMID:33607528 PMID:33688131 PMID:34272103 PMID:34284285 PMID:35188090 PMID:39825153 More...
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NCBI chrNW_004936570:5,628,593...5,640,982
Ensembl chrNW_004936570:5,628,515...5,641,056
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G
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Gjc2
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gap junction protein gamma 2
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 44
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OMIM ClinVar |
PMID:19056803 PMID:25741868 PMID:27057822 PMID:28492532 PMID:34055681 |
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NCBI chrNW_004936864:67,608...71,543
Ensembl chrNW_004936864:69,445...70,752
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G
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Cnnm2
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cyclin and CBS domain divalent metal cation transport mediator 2
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 45
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ClinVar |
PMID:24482476 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936600:2,898,321...3,037,414
Ensembl chrNW_004936600:2,904,410...3,036,132
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G
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Nt5c2
|
5'-nucleotidase, cytosolic II
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 45 | ClinVar Annotator: match by term: Spastic paraplegia 45, autosomal recessive
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OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19415352 PMID:24482476 PMID:25741868 PMID:28492532 PMID:29123918 PMID:32214227 PMID:32989326 More...
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NCBI chrNW_004936600:2,828,277...2,892,795
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G
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Eef1a2
|
eukaryotic translation elongation factor 1 alpha 2
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 46
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936514:10,799,002...10,807,132
Ensembl chrNW_004936514:10,798,671...10,807,132
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G
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Gba2
|
glucosylceramidase beta 2
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ISO
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ClinVar Annotator: match by term: GBA2-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 46
|
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20593214 PMID:23332916 PMID:23332917 PMID:24252062 PMID:25741868 PMID:26220345 PMID:28492532 PMID:28832565 PMID:30308956 PMID:33397523 PMID:34234304 PMID:39825153 More...
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NCBI chrNW_004936524:3,730,833...3,742,526
Ensembl chrNW_004936524:3,730,833...3,742,531
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G
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Ampd1
|
adenosine monophosphate deaminase 1
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
|
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chrNW_004936627:33,350...57,231
Ensembl chrNW_004936627:33,350...57,166
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G
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Ap4b1
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adaptor related protein complex 4 subunit beta 1
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ISO
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ClinVar Annotator: match by term: AP4-related intellectual disability and spastic paraplegia | ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
|
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21440262 PMID:21620353 PMID:22290197 PMID:24700674 PMID:24781758 PMID:25167861 PMID:25693842 PMID:25741868 PMID:26350204 PMID:26544806 PMID:26795593 PMID:27625858 PMID:28492532 PMID:29193663 PMID:31915823 PMID:32964447 PMID:32979048 PMID:33594065 More...
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NCBI chrNW_004936690:2,255,159...2,265,833
Ensembl chrNW_004936690:2,255,159...2,265,847
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G
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Bcas2
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BCAS2 pre-mRNA processing factor
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
|
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chrNW_004936690:2,900,003...2,913,427
Ensembl chrNW_004936690:2,900,002...2,913,381
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G
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Bcl2l15
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BCL2 like 15
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
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ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chrNW_004936690:2,245,609...2,250,622
Ensembl chrNW_004936690:2,241,428...2,248,922
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G
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Capza1
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capping actin protein of muscle Z-line subunit alpha 1
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
|
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chrNW_004936690:1,184,644...1,223,732
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G
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Csde1
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cold shock domain containing E1
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
|
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
|
NCBI chrNW_004936627:85,894...122,592
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G
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Cttnbp2nl
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CTTNBP2 N-terminal like
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
|
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chrNW_004936690:982,414...1,034,947
Ensembl chrNW_004936690:982,402...1,035,005
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G
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Dennd2c
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DENN domain containing 2C
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
|
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chrNW_004936690:2,914,443...2,970,127
Ensembl chrNW_004936690:2,916,287...2,958,458
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G
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Hipk1
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homeodomain interacting protein kinase 1
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
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ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
|
NCBI chrNW_004936690:2,293,740...2,353,450
Ensembl chrNW_004936690:2,265,849...2,274,199 Ensembl chrNW_004936690:2,265,849...2,274,199
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G
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Kcnd3
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potassium voltage-gated channel subfamily D member 3
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
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ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chrNW_004936690:417,907...627,025
Ensembl chrNW_004936690:422,883...621,308
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G
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LOC101966363
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monocarboxylate transporter 1
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
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ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chrNW_004936690:1,448,289...1,461,525
Ensembl chrNW_004936690:1,450,092...1,461,481
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G
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Lrig2
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leucine rich repeats and immunoglobulin like domains 2
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
|
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chrNW_004936690:1,591,741...1,642,183
Ensembl chrNW_004936690:1,591,965...1,641,544
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G
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Mov10
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Mov10 RNA helicase
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
|
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chrNW_004936690:1,229,249...1,254,754
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G
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Nras
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NRAS proto-oncogene, GTPase
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
|
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chrNW_004936627:73,413...82,590
Ensembl chrNW_004936627:73,413...82,590
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G
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Olfml3
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olfactomedin like 3
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
|
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chrNW_004936690:2,354,416...2,357,904
Ensembl chrNW_004936690:2,354,748...2,357,945
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G
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Phtf1
|
putative homeodomain transcription factor 1
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
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ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
|
NCBI chrNW_004936690:2,091,427...2,129,758
Ensembl chrNW_004936690:2,091,424...2,128,561
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G
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Ppm1j
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protein phosphatase, Mg2+/Mn2+ dependent 1J
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
|
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chrNW_004936690:1,263,949...1,269,707
Ensembl chrNW_004936690:1,263,925...1,269,764
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G
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Ptpn22
|
protein tyrosine phosphatase non-receptor type 22
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
|
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chrNW_004936690:2,180,804...2,232,869
Ensembl chrNW_004936690:2,181,047...2,232,958
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G
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Rhoc
|
ras homolog family member C
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
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ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chrNW_004936690:1,255,126...1,258,288
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G
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Rsbn1
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round spermatid basic protein 1
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
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ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
|
NCBI chrNW_004936690:2,130,226...2,178,796
Ensembl chrNW_004936690:2,130,206...2,178,737
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G
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Sike1
|
suppressor of IKBKE 1
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
|
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chrNW_004936627:138,163...144,469
Ensembl chrNW_004936627:134,775...144,466
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G
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St7l
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suppression of tumorigenicity 7 like
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
|
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chrNW_004936690:1,018,324...1,184,703
Ensembl chrNW_004936690:1,024,599...1,184,090
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G
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Sycp1
|
synaptonemal complex protein 1
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
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ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chrNW_004936627:239,232...365,062
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G
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Syt6
|
synaptotagmin 6
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
|
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chrNW_004936690:2,435,573...2,497,332
Ensembl chrNW_004936690:2,435,541...2,497,553
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G
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Tafa3
|
TAFA chemokine like family member 3
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
|
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
|
NCBI chrNW_004936690:1,273,255...1,281,362
Ensembl chrNW_004936690:1,274,868...1,284,991
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G
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Trim33
|
tripartite motif containing 33
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
|
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
|
NCBI chrNW_004936690:2,709,059...2,898,399
Ensembl chrNW_004936690:2,709,061...2,830,450
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G
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Tshb
|
thyroid stimulating hormone subunit beta
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
|
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chrNW_004936627:399,191...404,371
Ensembl chrNW_004936627:396,215...401,650
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G
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Washc5
|
WASH complex subunit 5
|
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
|
ClinVar |
PMID:24065355 PMID:25614869 PMID:25741868 PMID:29768361 PMID:31911435 |
|
NCBI chrNW_004936470:22,667,354...22,725,538
Ensembl chrNW_004936470:22,667,127...22,725,749
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G
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Wnt2b
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Wnt family member 2B
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
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ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chrNW_004936690:1,077,538...1,094,005
Ensembl chrNW_004936690:1,079,227...1,097,041
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G
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Ap5z1
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adaptor related protein complex 5 subunit zeta 1
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 48
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OMIM ClinVar |
PMID:3286 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20613862 PMID:24033266 PMID:24482476 PMID:24833714 PMID:24926664 PMID:25333062 PMID:25741868 PMID:26085577 PMID:26467025 PMID:26637979 PMID:27165006 PMID:27606357 PMID:28492532 PMID:28832565 PMID:29908077 PMID:29970176 PMID:30564185 PMID:31289639 PMID:31673878 PMID:31785789 PMID:31980526 PMID:32655478 PMID:32860008 PMID:32989326 PMID:33543803 PMID:34426522 PMID:34983064 PMID:37012327 PMID:37077568 PMID:37492102 PMID:38292225 PMID:39825153 More...
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NCBI chrNW_004936765:1,112,333...1,123,244
Ensembl chrNW_004936765:1,111,882...1,123,316
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G
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Ankrd9
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ankyrin repeat domain 9
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 49
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936835:608,461...613,157
Ensembl chrNW_004936835:611,156...612,918
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G
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Tecpr2
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tectonin beta-propeller repeat containing 2
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 49 | ClinVar Annotator: match by term: Inherited spastic paresis | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IX, WITH DEVELOPMENTAL DELAY | ClinVar Annotator: match by term: Spastic paraplegia 49, autosomal recessive | ClinVar Annotator: match by term: TECPR2-related condition
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OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23176824 PMID:25590979 PMID:25640679 PMID:25741868 PMID:26431026 PMID:26542466 PMID:27406698 PMID:28492532 PMID:28940097 PMID:29908077 PMID:30681437 PMID:32209221 PMID:32657593 PMID:33847017 PMID:34994087 PMID:35130874 PMID:38177409 More...
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NCBI chrNW_004936835:525,198...604,685
Ensembl chrNW_004936835:524,802...607,365
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G
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Ap4m1
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adaptor related protein complex 4 subunit mu 1
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 ClinVar Annotator: match by term: AP-4 deficiency syndrome | ClinVar Annotator: match by term: Hereditary spastic paraplegia 50
|
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21937992 PMID:24700674 PMID:25326635 PMID:25496299 PMID:25558065 PMID:25741868 PMID:26077850 PMID:28464862 PMID:28492532 PMID:28832565 PMID:29096665 PMID:29302074 PMID:29473051 PMID:31230720 PMID:31359954 PMID:31915823 PMID:32979048 PMID:32989326 PMID:33001864 PMID:33813722 PMID:34087981 PMID:36371792 PMID:37486637 More...
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NCBI chrNW_004936543:246,335...250,278
Ensembl chrNW_004936543:246,335...254,975
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G
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Apoa1
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apolipoprotein A1
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 50
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ClinVar |
PMID:19559397 |
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NCBI chrNW_004936542:2,111,055...2,112,626
Ensembl chrNW_004936542:2,111,052...2,112,854
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G
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Mcm7
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minichromosome maintenance complex component 7
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 50
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ClinVar |
PMID:9536098 PMID:17576681 PMID:28492532 PMID:32979048 |
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NCBI chrNW_004936543:238,573...246,746
Ensembl chrNW_004936543:233,960...246,746
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G
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Ap4e1
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adaptor related protein complex 4 subunit epsilon 1
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 51
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OMIM ClinVar |
PMID:18414213 PMID:20972249 PMID:21937992 PMID:23472171 PMID:25167861 PMID:25741868 PMID:26544806 PMID:28492532 PMID:32979048 More...
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NCBI chrNW_004936471:12,857,259...12,919,615
Ensembl chrNW_004936471:12,857,323...12,916,718
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G
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Sppl2a
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signal peptide peptidase like 2A
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 51
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ClinVar |
PMID:20972249 |
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NCBI chrNW_004936471:12,700,777...12,730,509
Ensembl chrNW_004936471:12,701,014...12,729,995
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G
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Ap4s1
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adaptor related protein complex 4 subunit sigma 1
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ISO
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ClinVar Annotator: match by term: Spastic paraplegia 52, autosomal recessive
|
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:21620353 PMID:23167973 PMID:24700674 PMID:25552650 PMID:25741868 PMID:26297806 PMID:27444738 PMID:28492532 PMID:28708303 PMID:31660686 PMID:31690835 PMID:32979048 More...
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NCBI chrNW_004936494:5,720,474...5,758,888
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G
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Asah1
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N-acylsphingosine amidohydrolase 1
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 53
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936554:104,666...141,761
Ensembl chrNW_004936554:104,229...141,512
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G
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Atp6v1b2
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ATPase H+ transporting V1 subunit B2
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 53
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936555:4,285,269...4,307,715
Ensembl chrNW_004936555:4,285,269...4,310,858
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G
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Cnot7
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CCR4-NOT transcription complex subunit 7
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 53
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936573:6,288,397...6,305,984
Ensembl chrNW_004936573:6,288,397...6,306,706
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G
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Csgalnact1
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chondroitin sulfate N-acetylgalactosaminyltransferase 1
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 53
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936555:3,639,459...3,807,483
Ensembl chrNW_004936555:3,637,630...3,807,488
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G
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Fgf20
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fibroblast growth factor 20
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 53
|
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936573:6,055,261...6,062,764
Ensembl chrNW_004936573:6,055,261...6,062,764
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G
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Fgl1
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fibrinogen like 1
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 53
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936614:431,537...452,174
Ensembl chrNW_004936614:431,631...450,034
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G
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Ints10
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integrator complex subunit 10
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 53
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936555:3,985,363...4,018,421
Ensembl chrNW_004936555:3,985,447...4,018,450
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G
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Lpl
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lipoprotein lipase
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 53
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936555:4,084,099...4,108,219
Ensembl chrNW_004936555:4,084,099...4,108,365
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G
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Lzts1
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leucine zipper tumor suppressor 1
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 53
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936555:4,330,878...4,384,883
Ensembl chrNW_004936555:4,330,787...4,384,932
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G
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Micu3
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mitochondrial calcium uptake family member 3
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|
ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 53
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ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936573:6,081,811...6,178,812
Ensembl chrNW_004936573:6,081,808...6,174,523
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G
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Mtmr7
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myotubularin related protein 7
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 53
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936573:6,346,106...6,434,697
Ensembl chrNW_004936573:6,346,792...6,434,472
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G
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Mtus1
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microtubule associated scaffold protein 1
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 53
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ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936614:242,710...387,541
Ensembl chrNW_004936614:240,113...387,730
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G
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Pcm1
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pericentriolar material 1
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 53
|
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936554:7,906...86,187
Ensembl chrNW_004936554:7,938...87,756
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G
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Pdgfrl
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platelet derived growth factor receptor like
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 53
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ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936614:195,058...241,748
Ensembl chrNW_004936614:195,030...240,502
|
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G
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Psd3
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pleckstrin and Sec7 domain containing 3
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 53
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936555:2,955,982...3,253,064
Ensembl chrNW_004936555:2,963,963...3,284,619
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G
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Sh2d4a
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SH2 domain containing 4A
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 53
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936555:3,572,723...3,634,484
Ensembl chrNW_004936555:3,572,694...3,636,161
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G
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Slc18a1
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solute carrier family 18 member A1
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|
ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 53
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936555:4,249,821...4,271,379
Ensembl chrNW_004936555:4,249,821...4,271,379
|
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G
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Slc7a2
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solute carrier family 7 member 2
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 53
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936614:111,625...184,571
Ensembl chrNW_004936614:157,828...184,583
|
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G
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Vps37a
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VPS37A subunit of ESCRT-I
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|
ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 | ClinVar Annotator: match by term: Spastic paraplegia 53, autosomal recessive
|
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22717650 PMID:25741868 PMID:28492532 PMID:29473047 PMID:34779508 More...
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NCBI chrNW_004936573:6,306,218...6,343,544
Ensembl chrNW_004936573:6,306,536...6,340,271
|
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G
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Zdhhc2
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zDHHC palmitoyltransferase 2
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 53
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936573:6,216,084...6,280,142
Ensembl chrNW_004936573:6,216,078...6,282,052
|
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G
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Adam9
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ADAM metallopeptidase domain 9
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936710:2,301,470...2,388,533
Ensembl chrNW_004936710:2,301,730...2,387,695
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G
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Adgra2
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adhesion G protein-coupled receptor A2
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936710:1,258,088...1,296,346
Ensembl chrNW_004936710:1,257,931...1,298,885
|
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G
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Adrb3
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adrenoceptor beta 3
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|
ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 54
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936710:1,410,589...1,413,279
Ensembl chrNW_004936710:1,411,446...1,413,098
|
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G
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Ash2l
|
ASH2 like, histone lysine methyltransferase complex subunit
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|
ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 54
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936710:1,489,483...1,519,469
Ensembl chrNW_004936710:1,489,522...1,518,849
|
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G
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Bag4
|
BAG cochaperone 4
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|
ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 54
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936710:1,551,729...1,575,393
Ensembl chrNW_004936710:1,551,738...1,575,393
|
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G
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Brf2
|
BRF2 general transcription factor IIIB subunit
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936710:1,296,475...1,301,752
Ensembl chrNW_004936710:1,293,129...1,301,048
|
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G
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Ddhd2
|
DDHD domain containing 2
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54
|
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:16636240 PMID:17576681 PMID:23176823 PMID:23486545 PMID:24337409 PMID:24482476 PMID:24517879 PMID:25417924 PMID:25741868 PMID:28492532 PMID:31271950 PMID:31302745 PMID:32488064 PMID:37420318 PMID:39825153 More...
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NCBI chrNW_004936710:1,593,899...1,616,572
Ensembl chrNW_004936710:1,593,946...1,618,828
|
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G
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Eif4ebp1
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eukaryotic translation initiation factor 4E binding protein 1
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54
|
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936710:1,446,030...1,461,945
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G
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Erlin2
|
ER lipid raft associated 2
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 54
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936710:1,193,679...1,210,059
Ensembl chrNW_004936710:1,193,411...1,210,739
|
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G
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Fgfr1
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fibroblast growth factor receptor 1
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936710:1,760,365...1,815,269
Ensembl chrNW_004936710:1,760,089...1,815,508
|
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G
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Got1l1
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glutamic-oxaloacetic transaminase 1 like 1
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936710:1,388,743...1,393,791
Ensembl chrNW_004936710:1,388,743...1,393,758
|
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G
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Htra4
|
HtrA serine peptidase 4
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936710:2,280,804...2,292,399
Ensembl chrNW_004936710:2,280,714...2,292,468
|
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G
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Letm2
|
leucine zipper and EF-hand containing transmembrane protein 2
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936710:1,736,010...1,758,480
Ensembl chrNW_004936710:1,736,721...1,758,693
|
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G
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Lsm1
|
LSM1 homolog, mRNA degradation associated
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936710:1,546,027...1,551,685
Ensembl chrNW_004936710:1,545,790...1,552,394
|
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G
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Nsd3
|
nuclear receptor binding SET domain protein 3
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936710:1,629,178...1,732,827
Ensembl chrNW_004936710:1,631,234...1,732,827
|
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G
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Plekha2
|
pleckstrin homology domain containing A2
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936710:2,210,683...2,280,522
Ensembl chrNW_004936710:2,223,941...2,276,792
|
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G
|
Plpbp
|
pyridoxal phosphate binding protein
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936710:1,216,142...1,236,559
Ensembl chrNW_004936710:1,216,104...1,238,153
|
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G
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Plpp5
|
phospholipid phosphatase 5
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936710:1,619,975...1,625,426
Ensembl chrNW_004936710:1,620,012...1,624,737
|
|
G
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Rab11fip1
|
RAB11 family interacting protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936710:1,306,430...1,338,502
|
|
G
|
Star
|
steroidogenic acute regulatory protein
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936710:1,523,289...1,530,181
Ensembl chrNW_004936710:1,523,355...1,529,672
|
|
G
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Tacc1
|
transforming acidic coiled-coil containing protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936710:2,042,671...2,157,249
|
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G
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Tm2d2
|
TM2 domain containing 2
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936710:2,298,233...2,301,239
Ensembl chrNW_004936710:2,297,247...2,301,232
|
|
|
G
|
Mtrfr
|
mitochondrial translation release factor in rescue
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 55 | ClinVar Annotator: match by term: Spastic paraplegia 55, autosomal recessive
|
OMIM ClinVar |
PMID:3479531 PMID:20598281 PMID:23188110 PMID:24080142 PMID:24198383 PMID:24284555 PMID:24424123 PMID:25058219 PMID:25326635 PMID:25741868 PMID:26380172 PMID:26539891 PMID:28091420 PMID:28251916 PMID:28492532 PMID:30369941 PMID:31753091 PMID:32581362 More...
|
|
NCBI chrNW_004936558:1,470,781...1,482,885
Ensembl chrNW_004936558:1,470,775...1,483,344
|
|
|
G
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LOC101973126
|
cytochrome P450 2U1
|
|
ISO
|
ClinVar Annotator: match by term: CYP2U1-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 56
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OMIM ClinVar |
PMID:615030 PMID:14660610 PMID:16783378 PMID:20301718 PMID:21735565 PMID:23176821 PMID:25558065 PMID:25741868 PMID:26914923 PMID:26936192 PMID:27292318 PMID:28492532 PMID:28600779 PMID:29034544 PMID:32860008 PMID:33107650 PMID:36166872 More...
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NCBI chrNW_004936818:650,593...672,349
Ensembl chrNW_004936818:650,589...672,355
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G
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Tfg
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trafficking from ER to golgi regulator
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 57 | ClinVar Annotator: match by term: Spastic paraplegia 57, autosomal recessive
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OMIM ClinVar |
PMID:22883144 PMID:23479643 PMID:23553329 PMID:23806086 PMID:24088041 PMID:24613659 PMID:25098539 PMID:25725944 PMID:25741868 PMID:26257172 PMID:27492651 PMID:28196470 PMID:28492532 PMID:29971521 PMID:30157421 PMID:30221345 PMID:33726816 PMID:39825153 More...
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NCBI chrNW_004936630:2,518,944...2,555,054
Ensembl chrNW_004936630:2,515,822...2,555,299
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G
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Usp8
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ubiquitin specific peptidase 8
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ISO
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ClinVar Annotator: match by term: Autosomal recessive spastic paraplegia type 59
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936471:12,463,189...12,524,148
Ensembl chrNW_004936471:12,463,120...12,520,674
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G
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CUNH19orf12
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chromosome unknown C19orf12 homolog
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A
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ClinVar |
PMID:21981780 PMID:25741868 PMID:28492532 PMID:39825153 |
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NCBI chrNW_004936570:5,628,593...5,640,982
Ensembl chrNW_004936570:5,628,515...5,641,056
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G
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Gba2
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glucosylceramidase beta 2
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A
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ClinVar |
PMID:25741868 PMID:28492532 PMID:29453417 |
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NCBI chrNW_004936524:3,730,833...3,742,526
Ensembl chrNW_004936524:3,730,833...3,742,531
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G
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LOC101955077
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cytochrome P450 7B1
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A
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OMIM 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:27084228 PMID:27217339 PMID:27879216 PMID:27879220 PMID:27957547 PMID:28039895 PMID:28492532 PMID:28832565 PMID:29126212 PMID:29228183 PMID:29246610 PMID:29482223 PMID:29980238 PMID:31227335 PMID:31407473 PMID:31589614 PMID:31692161 PMID:31980526 PMID:32202070 PMID:33160247 PMID:34234304 PMID:34426522 PMID:34782662 PMID:34983064 PMID:35578252 PMID:37712079 More...
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NCBI chrNW_004936496:8,900,320...9,072,109
Ensembl chrNW_004936496:8,899,965...9,072,089
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G
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LOC101973126
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cytochrome P450 2U1
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A
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ClinVar |
PMID:25741868 |
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NCBI chrNW_004936818:650,593...672,349
Ensembl chrNW_004936818:650,589...672,355
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G
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LOC101975532
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delta-1-pyrroline-5-carboxylate synthase
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936636:3,779,259...3,800,846
Ensembl chrNW_004936636:3,760,326...3,801,073
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G
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Mcoln1
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mucolipin TRP cation channel 1
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A
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ClinVar |
PMID:25741868 |
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NCBI chrNW_004936588:4,600,344...4,608,793
Ensembl chrNW_004936588:4,600,344...4,608,787
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G
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Reep2
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receptor accessory protein 2
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936531:7,601,869...7,608,658
Ensembl chrNW_004936531:7,601,728...7,608,696
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G
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Cyfip1
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cytoplasmic FMR1 interacting protein 1
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 6
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ClinVar |
PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 |
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NCBI chrNW_004936471:38,264,455...38,331,995
Ensembl chrNW_004936471:38,267,703...38,332,218
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G
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Nipa1
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NIPA magnesium transporter 1
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ISO
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ClinVar Annotator: match by term: Familial spastic paraplegia autosomal dominant 3 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 | ClinVar Annotator: match by term: NIPA1-related condition
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OMIM ClinVar |
PMID:7825577 PMID:14508710 PMID:15643603 PMID:15711826 PMID:16267846 PMID:17092466 PMID:17166836 PMID:17268193 PMID:17928003 PMID:18191948 PMID:19091982 PMID:19620182 PMID:20816793 PMID:21419568 PMID:21599812 PMID:22302102 PMID:22378146 PMID:23032108 PMID:23850684 PMID:24075313 PMID:24128679 PMID:25341883 PMID:25689425 PMID:25741868 PMID:26467025 PMID:27084228 PMID:28492532 PMID:28832565 PMID:29934652 PMID:31104286 PMID:31630374 PMID:32500351 PMID:32501971 PMID:32581362 PMID:34983064 PMID:39825153 More...
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NCBI chrNW_004936471:38,363,521...38,403,647
Ensembl chrNW_004936471:38,364,940...38,407,314
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G
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Nipa2
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NIPA magnesium transporter 2
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 6
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ClinVar |
PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 |
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NCBI chrNW_004936471:38,332,371...38,359,239
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G
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Tubgcp5
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tubulin gamma complex component 5
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 6
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ClinVar |
PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 |
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NCBI chrNW_004936471:38,180,670...38,215,972
Ensembl chrNW_004936471:38,181,252...38,216,306
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G
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Arl6ip1
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ARL6 interacting reticulophagy regulator 1
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 61
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OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24482476 PMID:25741868 PMID:27848944 PMID:28471035 PMID:28492532 PMID:30237576 PMID:30980493 PMID:31272422 PMID:33188530 More...
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NCBI chrNW_004936501:4,648,699...4,670,786
Ensembl chrNW_004936501:4,661,308...4,671,306
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G
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Erlin1
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ER lipid raft associated 1
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 62
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OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24482476 PMID:25741868 PMID:28492532 More...
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NCBI chrNW_004936636:80,583...116,027
Ensembl chrNW_004936636:80,564...116,694
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G
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Ahcyl1
|
adenosylhomocysteinase like 1
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
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ClinVar |
PMID:23911318 PMID:28492532 |
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NCBI chrNW_004936704:1,438,781...1,477,541
Ensembl chrNW_004936704:1,438,781...1,478,075
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G
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Aknad1
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AKNA domain containing 1
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
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ClinVar |
PMID:23911318 PMID:28492532 |
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NCBI chrNW_004936704:406,678...441,791
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G
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Alx3
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ALX homeobox 3
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
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ClinVar |
PMID:23911318 PMID:28492532 |
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NCBI chrNW_004936704:1,519,932...1,530,470
Ensembl chrNW_004936704:1,520,639...1,530,470
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G
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Amigo1
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adhesion molecule with Ig like domain 1
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
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ClinVar |
PMID:23911318 PMID:28492532 |
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NCBI chrNW_004936704:992,858...998,200
Ensembl chrNW_004936704:991,306...998,198
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G
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Ampd2
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adenosine monophosphate deaminase 2
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 | ClinVar Annotator: match by term: Spastic paraplegia 63, autosomal recessive
|
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23911318 PMID:24482476 PMID:25558065 PMID:25741868 PMID:27159321 PMID:28492532 PMID:28832565 PMID:29463858 PMID:31130284 PMID:31833174 PMID:32552793 More...
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NCBI chrNW_004936704:1,092,180...1,111,722
Ensembl chrNW_004936704:1,099,816...1,113,887
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G
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Atxn7l2
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ataxin 7 like 2
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
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ClinVar |
PMID:23911318 PMID:28492532 |
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NCBI chrNW_004936704:972,594...981,290
Ensembl chrNW_004936704:972,242...981,217
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G
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Cd53
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CD53 molecule
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
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ClinVar |
PMID:23911318 PMID:28492532 |
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NCBI chrNW_004936704:2,263,248...2,285,625
Ensembl chrNW_004936704:2,262,945...2,285,631
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G
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Celsr2
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cadherin EGF LAG seven-pass G-type receptor 2
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
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ClinVar |
PMID:23911318 PMID:28492532 |
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NCBI chrNW_004936704:779,528...803,860
Ensembl chrNW_004936704:778,480...803,886
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G
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Cfap276
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cilia and flagella associated protein 276
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
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ClinVar |
PMID:23911318 PMID:28492532 |
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NCBI chrNW_004936704:646,056...652,433
Ensembl chrNW_004936704:645,833...652,512
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G
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Clcc1
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chloride channel CLIC like 1
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
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ClinVar |
PMID:23911318 PMID:28492532 |
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NCBI chrNW_004936704:518,040...539,526
Ensembl chrNW_004936704:517,707...539,585
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G
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Csf1
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colony stimulating factor 1
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
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ClinVar |
PMID:23911318 PMID:28492532 |
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NCBI chrNW_004936704:1,372,137...1,393,355
Ensembl chrNW_004936704:1,378,103...1,393,542
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G
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Dram2
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DNA damage regulated autophagy modulator 2
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
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ClinVar |
PMID:23911318 PMID:28492532 |
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NCBI chrNW_004936704:2,488,370...2,513,042
Ensembl chrNW_004936704:2,490,902...2,505,547
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G
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Eeig2
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EEIG family member 2
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
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ClinVar |
PMID:23911318 PMID:28492532 |
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NCBI chrNW_004936704:148,782...230,314
Ensembl chrNW_004936704:151,458...226,205
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G
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Elapor1
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endosome-lysosome associated apoptosis and autophagy regulator 1
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
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ClinVar |
PMID:23911318 PMID:28492532 |
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NCBI chrNW_004936704:653,434...736,660
Ensembl chrNW_004936704:653,403...739,151
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G
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Eps8l3
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EPS8 signaling adaptor L3
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
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ClinVar |
PMID:23911318 PMID:28492532 |
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NCBI chrNW_004936704:1,241,341...1,251,702
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G
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Fndc7
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fibronectin type III domain containing 7
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
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ClinVar |
PMID:23911318 PMID:28492532 |
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NCBI chrNW_004936704:300,128...325,028
Ensembl chrNW_004936704:294,810...324,045
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G
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Gnai3
|
G protein subunit alpha i3
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
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ClinVar |
PMID:23911318 PMID:28492532 |
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NCBI chrNW_004936704:1,031,476...1,075,662
Ensembl chrNW_004936704:1,032,708...1,074,384
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G
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Gnat2
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G protein subunit alpha transducin 2
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
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ClinVar |
PMID:23911318 PMID:28492532 |
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NCBI chrNW_004936704:1,079,255...1,093,732
Ensembl chrNW_004936704:1,084,587...1,093,691
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G
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Gpr61
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G protein-coupled receptor 61
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
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ClinVar |
PMID:23911318 PMID:28492532 |
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NCBI chrNW_004936704:1,023,760...1,031,418
Ensembl chrNW_004936704:1,023,760...1,028,687
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G
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Gpsm2
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G protein signaling modulator 2
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
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ClinVar |
PMID:23911318 PMID:28492532 |
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NCBI chrNW_004936704:462,984...516,929
Ensembl chrNW_004936704:462,971...516,829
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G
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Gstm3
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glutathione S-transferase mu 3
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
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ClinVar |
PMID:23911318 PMID:28492532 |
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NCBI chrNW_004936704:1,233,909...1,236,864
Ensembl chrNW_004936704:1,233,780...1,237,329
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G
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Henmt1
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HEN methyltransferase 1
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
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ClinVar |
PMID:23911318 PMID:28492532 |
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NCBI chrNW_004936704:242,262...256,739
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G
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Kcna10
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potassium voltage-gated channel subfamily A member 10
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
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ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chrNW_004936704:1,933,620...1,935,541
Ensembl chrNW_004936704:1,933,625...1,935,160
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G
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Kcna2
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potassium voltage-gated channel subfamily A member 2
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
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ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chrNW_004936704:2,007,577...2,019,520
Ensembl chrNW_004936704:2,007,577...2,017,764
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G
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Kcna3
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potassium voltage-gated channel subfamily A member 3
|
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
|
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chrNW_004936704:2,083,037...2,085,917
Ensembl chrNW_004936704:2,084,436...2,085,923
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G
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Kcnc4
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potassium voltage-gated channel subfamily C member 4
|
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
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ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chrNW_004936704:1,667,387...1,689,337
Ensembl chrNW_004936704:1,667,387...1,689,348
|
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G
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Lamtor5
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late endosomal/lysosomal adaptor, MAPK and MTOR activator 5
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
|
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chrNW_004936704:1,830,470...1,835,966
Ensembl chrNW_004936704:1,830,470...1,835,994
|
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G
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LOC101956607
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cytochrome b561 domain-containing protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
|
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chrNW_004936704:981,893...989,177
Ensembl chrNW_004936704:982,800...988,297
|
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G
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LOC101958900
|
glutathione S-transferase Mu 1
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
|
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chrNW_004936704:1,142,990...1,150,491
Ensembl chrNW_004936704:1,143,010...1,148,567
|
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G
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Lrif1
|
ligand dependent nuclear receptor interacting factor 1
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
|
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chrNW_004936704:2,313,923...2,334,839
Ensembl chrNW_004936704:2,319,145...2,333,400
|
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G
|
Mybphl
|
myosin binding protein H like
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
|
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chrNW_004936704:815,325...831,149
Ensembl chrNW_004936704:815,271...830,084
|
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G
|
Prok1
|
prokineticin 1
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
|
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chrNW_004936704:1,876,560...1,881,439
Ensembl chrNW_004936704:1,876,560...1,881,419
|
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G
|
Prpf38b
|
pre-mRNA processing factor 38B
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
|
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chrNW_004936704:272,998...282,189
Ensembl chrNW_004936704:273,282...281,010
|
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G
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Psma5
|
proteasome 20S subunit alpha 5
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
|
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chrNW_004936704:905,277...928,364
Ensembl chrNW_004936704:905,248...929,215
|
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G
|
Psrc1
|
proline and serine rich coiled-coil 1
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
|
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chrNW_004936704:805,864...810,035
Ensembl chrNW_004936704:805,874...810,185
|
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G
|
Rbm15
|
RNA binding motif protein 15
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
|
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chrNW_004936704:1,779,981...1,787,339
Ensembl chrNW_004936704:1,779,482...1,788,710
|
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G
|
Sars1
|
seryl-tRNA synthetase 1
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
|
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chrNW_004936704:747,109...766,981
Ensembl chrNW_004936704:746,775...771,305
|
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G
|
Slc16a4
|
solute carrier family 16 member 4
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
|
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chrNW_004936704:1,801,209...1,827,103
Ensembl chrNW_004936704:1,802,340...1,824,470
|
|
G
|
Slc25a24
|
solute carrier family 25 member 24
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
|
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chrNW_004936731:173,366...224,156
Ensembl chrNW_004936731:173,337...224,239
|
|
G
|
Slc6a17
|
solute carrier family 6 member 17
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
|
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chrNW_004936704:1,606,418...1,654,026
Ensembl chrNW_004936704:1,622,504...1,654,026
|
|
G
|
Sort1
|
sortilin 1
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
|
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chrNW_004936704:832,651...901,658
Ensembl chrNW_004936704:837,057...901,392
|
|
G
|
Strip1
|
striatin interacting protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
|
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chrNW_004936704:1,495,525...1,514,942
Ensembl chrNW_004936704:1,495,495...1,515,037
|
|
G
|
Stxbp3
|
syntaxin binding protein 3
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
|
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chrNW_004936704:330,195...396,913
Ensembl chrNW_004936704:330,078...397,059
|
|
G
|
Sypl2
|
synaptophysin like 2
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
|
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chrNW_004936704:956,589...970,957
Ensembl chrNW_004936704:956,589...971,058
|
|
G
|
Taf13
|
TATA-box binding protein associated factor 13
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
|
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chrNW_004936704:613,261...623,407
Ensembl chrNW_004936704:613,261...623,401
|
|
G
|
Tmem167b
|
transmembrane protein 167B
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
|
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chrNW_004936704:631,909...638,185
Ensembl chrNW_004936704:631,836...638,525
|
|
G
|
Ubl4b
|
ubiquitin like 4B
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
|
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chrNW_004936704:1,569,302...1,570,452
|
|
G
|
Wdr47
|
WD repeat domain 47
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63
|
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chrNW_004936704:543,189...603,488
Ensembl chrNW_004936704:543,196...603,488
|
|
|
G
|
Ankrd11
|
ankyrin repeat domain containing 11
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 7
|
ClinVar |
PMID:21623769 PMID:22964162 PMID:28492532 |
|
NCBI chrNW_004936641:569,002...661,935
Ensembl chrNW_004936641:627,398...661,137
|
|
G
|
Mutyh
|
mutY DNA glycosylase
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 7
|
ClinVar |
PMID:39825153 |
|
NCBI chrNW_004936474:26,484,316...26,492,652
Ensembl chrNW_004936474:26,481,211...26,493,019
|
|
G
|
Spg7
|
SPG7 matrix AAA peptidase subunit, paraplegin
|
|
ISO
|
OMIM:607259
|
MouseDO |
|
|
NCBI chrNW_004936641:451,762...484,229
Ensembl chrNW_004936641:452,475...484,220
|
|
|
G
|
Arhgap9
|
Rho GTPase activating protein 9
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia 70, autosomal recessive
|
ClinVar |
PMID:24482476 PMID:28492532 |
|
NCBI chrNW_004936646:1,629,814...1,637,535
Ensembl chrNW_004936646:1,630,029...1,638,571
|
|
G
|
Mars1
|
methionyl-tRNA synthetase 1
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia 70, autosomal recessive
|
ClinVar OMIM |
PMID:24482476 PMID:25741868 PMID:28492532 PMID:28708278 PMID:34585293 |
|
NCBI chrNW_004936646:1,644,457...1,665,081
Ensembl chrNW_004936646:1,644,457...1,665,086
|
|
|
G
|
Reep2
|
receptor accessory protein 2
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 72 | ClinVar Annotator: match by term: Spastic paraplegia 72, autosomal recessive | ClinVar Annotator: match by term: Spastic paraplegia 72b, autosomal recessive
|
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:24388663 PMID:24482476 PMID:25741868 PMID:28491902 PMID:28492532 PMID:33526816 More...
|
|
NCBI chrNW_004936531:7,601,869...7,608,658
Ensembl chrNW_004936531:7,601,728...7,608,696
|
|
|
G
|
Cpt1c
|
carnitine palmitoyltransferase 1C
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 73
|
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:25751282 PMID:28492532 PMID:30564185 PMID:30911584 More...
|
|
NCBI chrNW_004936664:3,505,146...3,526,286
Ensembl chrNW_004936664:3,505,106...3,529,678
|
|
G
|
Gpt2
|
glutamic--pyruvic transaminase 2
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 73
|
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936475:262,558...299,766
Ensembl chrNW_004936475:262,920...297,459
|
|
|
G
|
Iba57
|
iron-sulfur cluster assembly factor IBA57
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 74 | ClinVar Annotator: match by term: Spastic paraplegia 74, autosomal recessive
|
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:23462291 PMID:25609768 PMID:25741868 PMID:25971455 PMID:27785568 PMID:28492532 PMID:28671726 PMID:30258207 PMID:34906502 PMID:39825153 More...
|
|
NCBI chrNW_004936864:50,033...63,540
Ensembl chrNW_004936864:49,889...63,481
|
|
|
G
|
Alkbh6
|
alkB homolog 6
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936922:44,201...49,792
Ensembl chrNW_004936922:44,807...49,834
|
|
G
|
Aplp1
|
amyloid beta precursor like protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:475,446...484,379
Ensembl chrNW_004936570:474,902...484,188
|
|
G
|
Arhgap33
|
Rho GTPase activating protein 33
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:539,839...553,018
Ensembl chrNW_004936570:539,830...553,086
|
|
G
|
Atp4a
|
ATPase H+/K+ transporting subunit alpha
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:802,170...815,023
Ensembl chrNW_004936570:802,170...814,056
|
|
G
|
Capns1
|
calpain small subunit 1
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936922:151,791...161,655
Ensembl chrNW_004936922:151,599...164,787
|
|
G
|
Cd22
|
CD22 molecule
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:960,592...971,688
Ensembl chrNW_004936570:960,746...969,049
|
|
G
|
Cebpa
|
CCAAT enhancer binding protein alpha
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:2,513,561...2,516,213
|
|
G
|
Cebpg
|
CCAAT enhancer binding protein gamma
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:2,435,672...2,439,056
Ensembl chrNW_004936570:2,438,187...2,438,639
|
|
G
|
Cep89
|
centrosomal protein 89
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:2,837,002...2,909,128
Ensembl chrNW_004936570:2,837,144...2,907,986
|
|
G
|
Chst8
|
carbohydrate sulfotransferase 8
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:2,125,111...2,242,172
Ensembl chrNW_004936570:2,125,097...2,242,218
|
|
G
|
Clip3
|
CAP-Gly domain containing linker protein 3
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936922:50,230...63,215
Ensembl chrNW_004936922:49,894...63,158
|
|
G
|
Dmkn
|
dermokine
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:846,229...859,732
Ensembl chrNW_004936570:846,146...859,759
|
|
G
|
Etv2
|
ETS variant transcription factor 2
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:671,152...673,768
|
|
G
|
Faap24
|
FA core complex associated protein 24
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:2,834,059...2,834,436
|
|
G
|
Fam187b
|
family with sequence similarity 187 member B
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:1,049,651...1,053,074
Ensembl chrNW_004936570:1,043,447...1,053,074
|
|
G
|
Ffar1
|
free fatty acid receptor 1
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:955,102...957,437
|
|
G
|
Ffar3
|
free fatty acid receptor 3
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:949,575...951,442
|
|
G
|
Fxyd1
|
FXYD domain containing ion transport regulator 1
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:1,117,083...1,121,059
Ensembl chrNW_004936570:1,117,816...1,118,860
|
|
G
|
Fxyd3
|
FXYD domain containing ion transport regulator 3
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:1,132,185...1,137,676
Ensembl chrNW_004936570:1,132,150...1,138,146
|
|
G
|
Fxyd5
|
FXYD domain containing ion transport regulator 5
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:1,095,373...1,104,618
|
|
G
|
Gapdhs
|
glyceraldehyde-3-phosphate dehydrogenase, spermatogenic
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:819,562...830,072
Ensembl chrNW_004936570:819,387...829,087
|
|
G
|
Garre1
|
granule associated Rac and RHOG effector 1
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:1,616,736...1,704,067
Ensembl chrNW_004936570:1,615,940...1,695,535
|
|
G
|
Gpatch1
|
G-patch domain containing 1
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:2,704,848...2,754,256
Ensembl chrNW_004936570:2,705,096...2,753,880
|
|
G
|
Gpi
|
glucose-6-phosphate isomerase
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:1,582,120...1,608,537
Ensembl chrNW_004936570:1,579,372...1,608,788
|
|
G
|
Gramd1a
|
GRAM domain containing 1A
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:1,199,292...1,222,323
Ensembl chrNW_004936570:1,199,095...1,222,162
|
|
G
|
Hamp
|
hepcidin antimicrobial peptide
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:1,009,344...1,010,654
Ensembl chrNW_004936570:1,009,312...1,010,686
|
|
G
|
Hcst
|
hematopoietic cell signal transducer
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:460,890...462,354
Ensembl chrNW_004936570:460,986...462,269
|
|
G
|
Hpn
|
hepsin
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:1,170,951...1,186,501
Ensembl chrNW_004936570:1,170,943...1,186,500
|
|
G
|
Hspb6
|
heat shock protein family B (small) member 6
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:568,708...571,099
Ensembl chrNW_004936570:567,860...571,402
|
|
G
|
Igflr1
|
IGF like family receptor 1
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:580,405...583,874
|
|
G
|
Kctd15
|
potassium channel tetramerization domain containing 15
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:2,080,549...2,096,929
Ensembl chrNW_004936570:2,080,547...2,096,929
|
|
G
|
Kirrel2
|
kirre like nephrin family adhesion molecule 2
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:485,202...493,350
Ensembl chrNW_004936570:486,249...493,356
|
|
G
|
Kmt2b
|
lysine methyltransferase 2B
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:583,616...605,846
Ensembl chrNW_004936570:583,616...605,603
|
|
G
|
Krtdap
|
keratinocyte differentiation associated protein
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:866,334...869,279
Ensembl chrNW_004936570:866,301...869,281
|
|
G
|
Lgi4
|
leucine rich repeat LGI family member 4
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:1,122,987...1,131,270
Ensembl chrNW_004936570:1,123,298...1,132,011
|
|
G
|
Lin37
|
lin-37 DREAM MuvB core complex component
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:571,146...575,539
Ensembl chrNW_004936570:567,860...575,788
|
|
G
|
LOC101965810
|
cytochrome c oxidase subunit 7A1, mitochondrial
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936922:162,282...163,864
Ensembl chrNW_004936922:162,286...163,839
|
|
G
|
LOC101969127
|
HAUS augmin-like complex subunit 5
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:694,132...703,299
Ensembl chrNW_004936570:693,379...703,256
|
|
G
|
LOC101971238
|
free fatty acid receptor 2
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:895,364...896,356
Ensembl chrNW_004936570:895,364...896,356
|
|
G
|
LOC101972214
|
cytochrome c oxidase subunit 6B1
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936543:399,447...399,911
|
|
G
|
Lrfn3
|
leucine rich repeat and fibronectin type III domain containing 3
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:419,664...426,339
Ensembl chrNW_004936570:419,541...426,345
|
|
G
|
Lrp3
|
LDL receptor related protein 3
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:2,590,893...2,602,749
Ensembl chrNW_004936570:2,587,284...2,601,203
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G
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Lsm14a
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LSM14A mRNA processing body assembly factor
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936570:1,723,966...1,791,784
Ensembl chrNW_004936570:1,729,841...1,791,778
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G
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Lsr
|
lipolysis stimulated lipoprotein receptor
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936570:1,023,967...1,038,223
Ensembl chrNW_004936570:1,023,960...1,038,587
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G
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Mag
|
myelin associated glycoprotein
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 | ClinVar Annotator: match by term: Spastic paraplegia 75, autosomal recessive
|
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24482476 PMID:25741868 PMID:26179919 PMID:28492532 PMID:28832565 PMID:31227335 PMID:31402626 PMID:32629324 PMID:34426522 PMID:39825153 More...
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NCBI chrNW_004936570:989,743...1,004,820
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G
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Nfkbid
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NFKB inhibitor delta
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936570:464,513...471,333
Ensembl chrNW_004936570:463,974...471,344
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G
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Nudt19
|
nudix hydrolase 19
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936570:3,018,465...3,026,763
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G
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Ovol3
|
ovo like zinc finger 3
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936922:128,196...130,197
Ensembl chrNW_004936922:128,196...130,197
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G
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Pdcd2l
|
programmed cell death 2 like
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936570:1,557,645...1,579,075
Ensembl chrNW_004936570:1,557,687...1,578,593
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G
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Pepd
|
peptidase D
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:2,315,981...2,431,878
Ensembl chrNW_004936570:2,315,954...2,431,884
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G
|
Polr2i
|
RNA polymerase II subunit I
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936922:130,248...131,843
Ensembl chrNW_004936922:130,257...131,828
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G
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Prodh2
|
proline dehydrogenase 2
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936570:522,275...531,300
Ensembl chrNW_004936570:522,290...531,241
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G
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Proser3
|
proline and serine rich 3
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936570:556,724...567,793
Ensembl chrNW_004936570:554,768...567,838
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G
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Psenen
|
presenilin enhancer, gamma-secretase subunit
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:576,722...578,022
Ensembl chrNW_004936570:576,722...578,010
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G
|
Rbm42
|
RNA binding motif protein 42
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:676,775...685,415
Ensembl chrNW_004936570:676,537...685,419
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G
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Rgs9bp
|
regulator of G protein signaling 9 binding protein
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:3,042,233...3,043,884
Ensembl chrNW_004936570:3,042,773...3,043,480
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G
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Rhpn2
|
rhophilin Rho GTPase binding protein 2
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:2,766,217...2,832,944
Ensembl chrNW_004936570:2,766,270...2,831,792
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G
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Sbsn
|
suprabasin
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936570:833,789...838,637
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G
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Scn1b
|
sodium voltage-gated channel beta subunit 1
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:1,187,916...1,195,423
Ensembl chrNW_004936570:1,186,711...1,195,388
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G
|
Sdhaf1
|
succinate dehydrogenase complex assembly factor 1
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936922:32,655...33,795
Ensembl chrNW_004936922:32,759...33,115
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G
|
Slc7a10
|
solute carrier family 7 member 10
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:2,575,784...2,589,808
Ensembl chrNW_004936570:2,575,386...2,593,299
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G
|
Slc7a9
|
solute carrier family 7 member 9
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:2,917,389...2,944,452
Ensembl chrNW_004936570:2,917,709...2,944,158
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G
|
Syne4
|
spectrin repeat containing nuclear envelope family member 4
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936922:40,640...44,414
Ensembl chrNW_004936922:40,684...44,312
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G
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Tbcb
|
tubulin folding cofactor B
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936922:131,998...139,912
Ensembl chrNW_004936922:132,015...144,556
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G
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Tdrd12
|
tudor domain containing 12
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:2,947,069...3,015,549
Ensembl chrNW_004936570:2,947,425...3,015,549
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G
|
Thap8
|
THAP domain containing 8
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936922:64,838...80,015
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|
G
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Tmem147
|
transmembrane protein 147
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:817,389...819,285
Ensembl chrNW_004936570:817,034...819,418
|
|
G
|
Tyrobp
|
transmembrane immune signaling adaptor TYROBP
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:457,993...460,735
Ensembl chrNW_004936570:458,054...460,579
|
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G
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U2af1l4
|
U2 small nuclear RNA auxiliary factor 1 like 4
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:578,088...580,321
Ensembl chrNW_004936570:578,178...580,133
|
|
G
|
Uba2
|
ubiquitin like modifier activating enzyme 2
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:1,502,701...1,548,967
Ensembl chrNW_004936570:1,502,703...1,548,966
|
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G
|
Upk1a
|
uroplakin 1A
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:633,933...641,429
Ensembl chrNW_004936570:634,067...642,605
|
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G
|
Usf2
|
upstream transcription factor 2, c-fos interacting
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:1,012,696...1,024,243
Ensembl chrNW_004936570:1,012,654...1,024,288
|
|
G
|
Wdr62
|
WD repeat domain 62
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936922:80,136...119,702
Ensembl chrNW_004936922:80,217...119,653
|
|
G
|
Wdr88
|
WD repeat domain 88
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:2,655,740...2,704,811
|
|
G
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Wtip
|
WT1 interacting protein
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:1,469,181...1,494,574
Ensembl chrNW_004936570:1,470,368...1,494,580
|
|
G
|
Zbtb32
|
zinc finger and BTB domain containing 32
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:606,087...615,473
|
|
G
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Znf181
|
zinc finger protein 181
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:1,392,578...1,400,727
|
|
G
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Znf30
|
zinc finger protein 30
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:1,284,771...1,297,816
|
|
G
|
Znf599
|
zinc finger protein 599
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:1,350,656...1,365,707
Ensembl chrNW_004936570:1,350,488...1,365,865
|
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G
|
Znf792
|
zinc finger protein 792
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936570:1,259,949...1,269,036
Ensembl chrNW_004936570:1,264,858...1,268,163
|
|
|
G
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Capn1
|
calpain 1
|
|
ISO
|
ClinVar Annotator: match by term: Autosomal recessive spastic paraplegia type 76 | ClinVar Annotator: match by term: CAPN1-related condition
|
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:27153400 PMID:27320912 PMID:28492532 PMID:28566166 PMID:29379883 PMID:30198554 PMID:32214227 PMID:32860008 PMID:33486633 PMID:34234304 PMID:36530930 PMID:37273706 More...
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|
NCBI chrNW_004936599:4,178,963...4,201,037
Ensembl chrNW_004936599:4,178,901...4,201,052
|
|
|
G
|
Fars2
|
phenylalanyl-tRNA synthetase 2, mitochondrial
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 77 | ClinVar Annotator: match by term: Spastic paraplegia 77, autosomal recessive
|
OMIM ClinVar |
PMID:22833457 PMID:25741868 PMID:25851414 PMID:26553276 PMID:28492532 PMID:29126765 PMID:30177229 PMID:30869852 PMID:31665838 PMID:32007496 PMID:32989326 PMID:33168986 PMID:33972171 PMID:36531778 More...
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|
NCBI chrNW_004936534:6,703,760...7,205,204
Ensembl chrNW_004936534:6,703,749...7,087,658
|
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G
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Lyrm4
|
LYR motif containing 4
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia 77, autosomal recessive
|
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936534:7,205,538...7,350,114
Ensembl chrNW_004936534:7,205,614...7,350,525
|
|
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G
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Atp13a2
|
ATPase cation transporting 13A2
|
|
ISO
|
ClinVar Annotator: match by term: ATP13A2-related condition | ClinVar Annotator: match by term: Autosomal recessive spastic paraplegia type 78
|
OMIM ClinVar |
PMID:9536098 PMID:12169656 PMID:16964263 PMID:17576681 PMID:18075584 PMID:18075585 PMID:18414213 PMID:19085912 PMID:19458722 PMID:19705361 PMID:20683840 PMID:21060012 PMID:21665991 PMID:21696388 PMID:21724849 PMID:22296644 PMID:22442086 PMID:22743658 PMID:22768177 PMID:25466404 PMID:25741868 PMID:26467025 PMID:28137957 PMID:28492532 PMID:29966207 PMID:30833663 PMID:31980526 PMID:33049588 PMID:34382491 PMID:36703223 PMID:39825153 More...
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|
NCBI chrNW_004936474:3,968,216...3,980,821
Ensembl chrNW_004936474:3,968,506...3,980,815
|
|
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G
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Uchl1
|
ubiquitin C-terminal hydrolase L1
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia 79A, autosomal dominant, with ataxia
|
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:35986737 PMID:37650884 |
|
NCBI chrNW_004936482:8,551,749...8,563,586
Ensembl chrNW_004936482:8,551,603...8,563,651
|
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G
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Uchl1
|
ubiquitin C-terminal hydrolase L1
|
|
ISO
|
ClinVar Annotator: match by term: Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
|
OMIM ClinVar |
PMID:3340629 PMID:4514348 PMID:10203348 PMID:10563640 PMID:12408865 PMID:15048890 PMID:16450370 PMID:18411255 PMID:19864305 PMID:21268678 PMID:22839974 PMID:23359680 PMID:25741868 PMID:28007905 PMID:28492532 More...
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|
NCBI chrNW_004936482:8,551,749...8,563,586
Ensembl chrNW_004936482:8,551,603...8,563,651
|
|
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G
|
Dnm1l
|
dynamin 1 like
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 8
|
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936607:3,576,357...3,632,423
Ensembl chrNW_004936607:3,576,392...3,632,554
|
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G
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Nsd1
|
nuclear receptor binding SET domain protein 1
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 8
|
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936597:1,426,318...1,577,193
Ensembl chrNW_004936597:1,425,974...1,572,715
|
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G
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Nsmce2
|
NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 8
|
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936470:22,447,278...22,667,302
Ensembl chrNW_004936470:22,445,433...22,667,559
|
|
G
|
Setbp1
|
SET binding protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 8
|
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936517:1,616,169...1,798,002
Ensembl chrNW_004936517:1,616,169...1,970,398
|
|
G
|
Tbk1
|
TANK binding kinase 1
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 8
|
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936545:2,763,755...2,809,229
Ensembl chrNW_004936545:2,763,596...2,809,709
|
|
G
|
Washc5
|
WASH complex subunit 5
|
|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: WASHC5-related condition
|
OMIM ClinVar |
PMID:7604842 PMID:9536098 PMID:10797436 PMID:16199547 PMID:17160902 PMID:17576681 PMID:20301727 PMID:20833645 PMID:23085491 PMID:23455931 PMID:24065355 PMID:24123792 PMID:24215330 PMID:24451228 PMID:24759409 PMID:24824269 PMID:25741868 PMID:26467025 PMID:27957547 PMID:28492532 PMID:28514442 PMID:30564185 PMID:30778698 PMID:30896870 PMID:31227335 PMID:31814071 PMID:31911435 PMID:31971710 PMID:32326241 PMID:32816195 PMID:33662919 PMID:33726816 PMID:34184482 PMID:38028608 More...
|
|
NCBI chrNW_004936470:22,667,354...22,725,538
Ensembl chrNW_004936470:22,667,127...22,725,749
|
|
|
G
|
Ubap1
|
ubiquitin associated protein 1
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia 80, autosomal dominant | ClinVar Annotator: match by term: UBAP1-related condition
|
OMIM ClinVar |
PMID:25741868 PMID:25741869 PMID:30929741 PMID:31203368 PMID:31515522 PMID:31696996 PMID:39825153 More...
|
|
NCBI chrNW_004936524:2,322,653...2,373,685
Ensembl chrNW_004936524:2,322,634...2,374,349
|
|
|
G
|
Selenoi
|
selenoprotein I
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia 81, autosomal recessive
|
OMIM ClinVar |
PMID:25741868 PMID:28052917 PMID:29500230 PMID:33454747 PMID:36942482 |
|
NCBI chrNW_004936493:6,052,094...6,099,430
Ensembl chrNW_004936493:6,055,277...6,099,458
|
|
|
G
|
Pcyt2
|
phosphate cytidylyltransferase 2, ethanolamine
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia 82, autosomal recessive
|
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31637422 PMID:32889549 PMID:33454747 PMID:37712079 PMID:39825153 More...
|
|
NCBI chrNW_004936594:5,410,975...5,417,958
Ensembl chrNW_004936594:5,410,948...5,417,988
|
|
|
G
|
Hpdl
|
4-hydroxyphenylpyruvate dioxygenase like
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia 83, autosomal recessive
|
OMIM ClinVar |
PMID:25741868 PMID:32707086 PMID:33188300 PMID:33970200 |
|
NCBI chrNW_004936474:26,481,300...26,483,143
Ensembl chrNW_004936474:26,481,883...26,482,998
|
|
|
G
|
Pi4ka
|
phosphatidylinositol 4-kinase alpha
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia 84, autosomal recessive
|
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:34415322 |
|
NCBI chrNW_004936619:2,240,641...2,377,088
Ensembl chrNW_004936619:2,240,266...2,377,093
|
|
|
G
|
Rnf170
|
ring finger protein 170
|
|
ISO
|
ClinVar Annotator: match by term: Spastic paraplegia 85, autosomal recessive
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OMIM ClinVar |
PMID:17190954 PMID:21115467 PMID:25741868 PMID:25882839 PMID:31636353 PMID:32943585 PMID:34469621 PMID:35041108 More...
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NCBI chrNW_004937108:111,111...147,077
Ensembl chrNW_004937108:117,881...150,498
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G
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Abhd16a
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abhydrolase domain containing 16A, phospholipase
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ISO
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ClinVar Annotator: match by term: Spastic paraplegia 86, autosomal recessive
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OMIM ClinVar |
PMID:25741868 PMID:34587489 PMID:34866177 |
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NCBI chrNW_004936727:1,828,966...1,843,334
Ensembl chrNW_004936727:1,828,905...1,844,967
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G
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Tmem63c
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transmembrane protein 63C
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ISO
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ClinVar Annotator: match by term: Spastic paraplegia 87, autosomal recessive
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OMIM ClinVar |
PMID:35718349 |
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NCBI chrNW_004936488:6,050,368...6,086,881
Ensembl chrNW_004936488:6,034,618...6,086,207
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G
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Kpna3
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karyopherin subunit alpha 3
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ISO
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ClinVar Annotator: match by term: Spastic paraplegia 88, autosomal dominant
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OMIM ClinVar |
PMID:25741868 PMID:34564892 PMID:34825409 PMID:34981581 |
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NCBI chrNW_004936565:2,738,003...2,775,814
Ensembl chrNW_004936565:2,737,218...2,775,798
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G
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Amfr
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autocrine motility factor receptor
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ISO
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ClinVar Annotator: match by term: Spastic paraplegia 89, autosomal recessive
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OMIM ClinVar |
PMID:37119330 |
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NCBI chrNW_004936475:8,692,969...8,727,252
Ensembl chrNW_004936475:8,692,844...8,727,385
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G
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Sptssa
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serine palmitoyltransferase small subunit A
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ISO
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ClinVar Annotator: match by term: Spastic paraplegia 90A, autosomal dominant
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ClinVar OMIM |
PMID:36718090 |
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NCBI chrNW_004936494:8,717,821...8,738,923
Ensembl chrNW_004936494:8,716,829...8,739,066
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G
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Sptssa
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serine palmitoyltransferase small subunit A
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ISO
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ClinVar Annotator: match by term: Spastic paraplegia 90B, autosomal recessive
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ClinVar OMIM |
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NCBI chrNW_004936494:8,717,821...8,738,923
Ensembl chrNW_004936494:8,716,829...8,739,066
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G
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LOC101975532
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delta-1-pyrroline-5-carboxylate synthase
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ISO
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ClinVar Annotator: match by term: Bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy | ClinVar Annotator: match by term: Cataracts, motor neuronopathy, short stature and skeletal abnormalities | ClinVar Annotator: match by term: Hereditary spastic paraplegia 9A | ClinVar Annotator: match by term: SPASTIC PARAPARESIS WITH AMYOTROPHY, CATARACTS, AND GASTROESOPHAGEAL REFLUX
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OMIM ClinVar |
PMID:8779323 PMID:9643297 PMID:9973297 PMID:25741868 PMID:26026163 PMID:26297558 PMID:26320891 PMID:26829900 PMID:28492532 PMID:37119015 PMID:37712079 More...
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NCBI chrNW_004936636:3,779,259...3,800,846
Ensembl chrNW_004936636:3,760,326...3,801,073
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G
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LOC101975532
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delta-1-pyrroline-5-carboxylate synthase
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ISO
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ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia type 9B | ClinVar Annotator: match by term: Spastic paraplegia 9b, autosomal recessive
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OMIM ClinVar |
PMID:9536098 PMID:9643297 PMID:17576681 PMID:25741868 PMID:26026163 PMID:26297558 PMID:26320891 PMID:28492532 PMID:29915212 PMID:32798076 PMID:36067040 PMID:37119015 PMID:37712079 PMID:39825153 More...
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NCBI chrNW_004936636:3,779,259...3,800,846
Ensembl chrNW_004936636:3,760,326...3,801,073
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G
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Dars1
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aspartyl-tRNA synthetase 1
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ISO
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ClinVar Annotator: match by term: ASPARTYL-tRNA SYNTHETASE DEFICIENCY | ClinVar Annotator: match by term: DARS1-related condition | ClinVar Annotator: match by term: Hypomyelination with brainstem and spinal cord involvement and leg spasticity
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OMIM ClinVar |
PMID:23643384 PMID:25527264 PMID:25741868 PMID:27816769 PMID:28492532 |
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NCBI chrNW_004936469:39,921,182...39,979,297
Ensembl chrNW_004936469:39,921,120...39,979,323
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G
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Atn1
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atrophin 1
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ISO
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ClinVar Annotator: match by term: X-linked hydrocephalus syndrome
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ClinVar |
PMID:25741868 |
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NCBI chrNW_004936709:886,571...894,746
Ensembl chrNW_004936709:887,455...894,727
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G
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L1cam
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L1 cell adhesion molecule
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ISO
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ClinVar Annotator: match by term: L1 syndrome | ClinVar Annotator: match by term: MASA syndrome | ClinVar Annotator: match by term: X-linked hydrocephalus syndrome
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OMIM ClinVar |
PMID:1303258 PMID:1870106 PMID:3460961 PMID:7493978 PMID:7562969 PMID:7762552 PMID:7881431 PMID:7920659 PMID:7920660 PMID:8062435 PMID:8401576 PMID:8401593 PMID:8826452 PMID:8929944 PMID:9195224 PMID:9268105 PMID:9279760 PMID:9300653 PMID:9521424 PMID:9536098 PMID:9610803 PMID:9643285 PMID:9744477 PMID:10469653 PMID:10632110 PMID:10767310 PMID:10797421 PMID:10805190 PMID:10908608 PMID:11438988 PMID:11772994 PMID:11857550 PMID:12442287 PMID:12725590 PMID:13889294 PMID:15108295 PMID:15148591 PMID:15555929 PMID:16199547 PMID:16650080 PMID:17328266 PMID:17576681 PMID:18136715 PMID:19617634 PMID:19641926 PMID:19846429 PMID:19953645 PMID:20447653 PMID:20621658 PMID:21271669 PMID:21688291 PMID:22973895 PMID:23820807 PMID:24155914 PMID:25039760 PMID:25644381 PMID:25666757 PMID:25741868 PMID:25934484 PMID:26467025 PMID:26891472 PMID:27001749 PMID:28492532 PMID:30249681 PMID:30712878 PMID:31069529 PMID:31319225 PMID:31474318 PMID:31504653 PMID:31680349 PMID:32416898 PMID:32488064 PMID:34510796 PMID:35088901 PMID:37766829 PMID:39251974 More...
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NCBI chrNW_004936809:736,385...768,822
Ensembl chrNW_004936809:736,319...761,973
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G
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Tubb3
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tubulin beta 3 class III
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ISO
|
ClinVar Annotator: match by term: X-linked hydrocephalus syndrome
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ClinVar |
PMID:25741868 |
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NCBI chrNW_004936641:184,736...193,835
Ensembl chrNW_004936641:184,765...193,819
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G
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Spg21
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SPG21 abhydrolase domain containing, maspardin
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ISO
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ClinVar Annotator: match by term: Mast syndrome | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 21, AUTOSOMAL RECESSIVE
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OMIM ClinVar |
PMID:6024251 PMID:9536098 PMID:14564668 PMID:16199547 PMID:17576681 PMID:24451228 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28752238 PMID:35111129 More...
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NCBI chrNW_004936471:25,301,385...25,327,835
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G
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Snapc4
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small nuclear RNA activating complex polypeptide 4
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ISO
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ClinVar Annotator: match by term: Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction
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ClinVar OMIM |
PMID:25741868 PMID:36965478 |
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NCBI chrNW_004936669:1,405,306...1,428,222
Ensembl chrNW_004936669:1,405,275...1,425,248
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G
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Tapbpl
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TAP binding protein like
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ISO
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ClinVar Annotator: match by term: Ataxia, spastic, 1, autosomal dominant | ClinVar Annotator: match by term: Spastic ataxia 1
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ClinVar |
PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 PMID:28492532 PMID:39825153 More...
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NCBI chrNW_004936709:1,304,843...1,313,191
Ensembl chrNW_004936709:1,304,971...1,313,770
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G
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Vamp1
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vesicle associated membrane protein 1
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ISO
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ClinVar Annotator: match by term: Ataxia, spastic, 1, autosomal dominant | ClinVar Annotator: match by term: Spastic ataxia 1
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OMIM ClinVar |
PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 PMID:28492532 PMID:39825153 More...
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NCBI chrNW_004936709:1,297,820...1,304,793
Ensembl chrNW_004936709:1,297,743...1,304,899
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G
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Camta2
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calmodulin binding transcription activator 2
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ISO
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ClinVar Annotator: match by term: Spastic ataxia 2
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936677:2,732,223...2,747,408
Ensembl chrNW_004936677:2,730,874...2,747,406
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G
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Chrne
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cholinergic receptor nicotinic epsilon subunit
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ISO
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ClinVar Annotator: match by term: Spastic ataxia 2
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936677:2,809,057...2,813,838
Ensembl chrNW_004936677:2,808,799...2,813,290
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G
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CUNH17orf107
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chromosome unknown C17orf107 homolog
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ISO
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ClinVar Annotator: match by term: Spastic ataxia 2
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936677:2,811,199...2,812,425
Ensembl chrNW_004936677:2,811,355...2,812,285
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G
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Eno3
|
enolase 3
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ISO
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ClinVar Annotator: match by term: Spastic ataxia 2
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936677:2,754,117...2,760,992
Ensembl chrNW_004936677:2,754,067...2,760,644
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G
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Gp1ba
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glycoprotein Ib platelet subunit alpha
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ISO
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ClinVar Annotator: match by term: Spastic ataxia 2
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936677:2,774,076...2,779,660
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G
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Inca1
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inhibitor of CDK, cyclin A1 interacting protein 1
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ISO
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ClinVar Annotator: match by term: Spastic ataxia 2
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936677:2,721,451...2,730,398
Ensembl chrNW_004936677:2,721,443...2,730,527
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G
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Kif1c
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kinesin family member 1C
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ISO
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ClinVar Annotator: match by term: Spastic ataxia 2
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OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17273843 PMID:17576681 PMID:24319291 PMID:24482476 PMID:24808017 PMID:25741868 PMID:26633545 PMID:27666373 PMID:28492532 PMID:28687974 PMID:28832565 PMID:29482223 PMID:30067756 PMID:32501971 PMID:34270679 PMID:34946966 PMID:35961316 PMID:39825153 More...
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NCBI chrNW_004936677:2,696,385...2,720,959
Ensembl chrNW_004936677:2,696,209...2,720,959
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G
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Pfn1
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profilin 1
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ISO
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ClinVar Annotator: match by term: Spastic ataxia 2
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936677:2,762,971...2,766,038
Ensembl chrNW_004936677:2,762,971...2,766,149
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G
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Rnf167
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ring finger protein 167
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ISO
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ClinVar Annotator: match by term: Spastic ataxia 2
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936677:2,766,724...2,771,111
Ensembl chrNW_004936677:2,766,907...2,770,225
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G
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Slc25a11
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solute carrier family 25 member 11
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ISO
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ClinVar Annotator: match by term: Spastic ataxia 2
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936677:2,770,969...2,773,973
Ensembl chrNW_004936677:2,770,964...2,776,022
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G
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Spag7
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sperm associated antigen 7
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ISO
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ClinVar Annotator: match by term: Spastic ataxia 2
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ClinVar |
PMID:28492532 |
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NCBI chrNW_004936677:2,747,476...2,753,183
Ensembl chrNW_004936677:2,747,506...2,753,185
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G
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Mars2
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methionyl-tRNA synthetase 2, mitochondrial
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ISO
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ClinVar Annotator: match by term: Spastic ataxia 3
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OMIM ClinVar |
PMID:22448145 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936506:1,550,068...1,552,776
Ensembl chrNW_004936506:1,550,957...1,552,738
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G
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Sacs
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sacsin molecular chaperone
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ISO
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ClinVar Annotator: match by term: Autosomal recessive spastic ataxia
|
ClinVar |
PMID:20876471 PMID:21450511 PMID:21507954 PMID:24033266 PMID:24180463 PMID:25741868 More...
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NCBI chrNW_004936688:1,987,075...2,079,148
Ensembl chrNW_004936688:1,987,054...2,079,173
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G
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Kif1a
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kinesin family member 1A
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ISO
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ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 30A, AUTOSOMAL DOMINANT
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OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:21376300 PMID:21820098 PMID:22258533 PMID:25253658 PMID:25265257 PMID:25741868 PMID:26125038 PMID:26354034 PMID:26467025 PMID:26486474 PMID:27034427 PMID:27124789 PMID:27146152 PMID:28106320 PMID:28333917 PMID:28492532 PMID:28708303 PMID:28834584 PMID:28970574 PMID:29915382 PMID:30564185 PMID:31455732 PMID:31488895 PMID:31616253 PMID:31796088 PMID:31813911 PMID:32096284 PMID:32343762 PMID:32737135 PMID:32746806 PMID:33717719 PMID:33753861 PMID:34356170 PMID:34487232 PMID:34983064 PMID:35132656 PMID:39825153 More...
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NCBI chrNW_004936745:911,651...976,878
Ensembl chrNW_004936745:911,709...974,199
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G
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Kif1a
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kinesin family member 1A
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ISO
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ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive | ClinVar Annotator: match by term: Spastic paraplegia 30b, autosomal recessive
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OMIM ClinVar |
PMID:9536098 PMID:16434418 PMID:17576681 PMID:21376300 PMID:21487076 PMID:21820098 PMID:22258533 PMID:25253658 PMID:25265257 PMID:25741868 PMID:26125038 PMID:26354034 PMID:26467025 PMID:26486474 PMID:27034427 PMID:27124789 PMID:27146152 PMID:28106320 PMID:28333917 PMID:28492532 PMID:28708303 PMID:28834584 PMID:28970574 PMID:29915382 PMID:30564185 PMID:31455732 PMID:31488895 PMID:31616253 PMID:31796088 PMID:31813911 PMID:32096284 PMID:32343762 PMID:32737135 PMID:32746806 PMID:33717719 PMID:33753861 PMID:34356170 PMID:34487232 PMID:34983064 PMID:35132656 PMID:39825153 More...
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NCBI chrNW_004936745:911,651...976,878
Ensembl chrNW_004936745:911,709...974,199
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G
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Sptan1
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spectrin alpha, non-erythrocytic 1
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ISO
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ClinVar Annotator: match by term: Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia
|
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31332438 PMID:32811770 PMID:35150594 PMID:36331550 More...
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NCBI chrNW_004936487:16,071,043...16,142,662
Ensembl chrNW_004936487:16,070,996...16,142,662
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G
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Ficd
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FIC domain protein adenylyltransferase
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ISO
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OMIM |
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NCBI chrNW_004936769:444,122...448,016
Ensembl chrNW_004936769:444,051...452,149
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G
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Nfu1
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NFU1 iron-sulfur cluster scaffold
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ISO
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ClinVar Annotator: match by term: Spastic paraplegia 93, autosomal recessive
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OMIM ClinVar |
PMID:24462778 PMID:25477904 PMID:25741868 PMID:25758857 PMID:25918518 PMID:28492532 PMID:28803783 PMID:32747156 PMID:36256512 More...
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NCBI chrNW_004936491:13,680,669...13,712,924
Ensembl chrNW_004936491:13,679,629...13,712,988
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G
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Eef1d
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eukaryotic translation elongation factor 1 delta
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ISO
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OMIM |
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NCBI chrNW_004936470:8,538,899...8,553,645
Ensembl chrNW_004936470:8,538,821...8,553,970
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G
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Gfap
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glial fibrillary acidic protein
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ISO
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ClinVar Annotator: match by term: Spastic paraplegia, intellectual disability, nystagmus, and obesity
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ClinVar |
PMID:11138011 PMID:11567214 PMID:15732097 PMID:17065456 PMID:17383133 PMID:17894839 PMID:21533827 PMID:23432455 PMID:24427505 PMID:25741868 PMID:26486469 More...
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NCBI chrNW_004936541:1,265,915...1,275,232
Ensembl chrNW_004936541:1,265,436...1,275,296
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G
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Kidins220
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kinase D interacting substrate 220
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ISO
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ClinVar Annotator: match by term: Spastic paraplegia, intellectual disability, nystagmus, and obesity
|
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:27005418 PMID:28492532 PMID:28934391 PMID:29667355 PMID:32909676 More...
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NCBI chrNW_004936532:5,270,338...5,368,160
Ensembl chrNW_004936532:5,272,149...5,362,814
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G
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Lrba
|
LPS responsive beige-like anchor protein
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ISO
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ClinVar Annotator: match by term: Spastic paraplegia, intellectual disability, nystagmus, and obesity
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ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936689:429,907...1,080,226
Ensembl chrNW_004936689:430,293...1,079,838
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G
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Sod1
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superoxide dismutase 1
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ISO
|
ClinVar Annotator: match by term: Spastic tetraplegia and axial hypotonia, progressive
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OMIM ClinVar |
PMID:1259395 PMID:2517465 PMID:7673954 PMID:7881433 PMID:7997024 PMID:8069312 PMID:8446170 PMID:8528216 PMID:8572658 PMID:10400992 PMID:10593307 PMID:10732812 PMID:12165567 PMID:12358759 PMID:15050437 PMID:15056757 PMID:15208263 PMID:15258228 PMID:16291929 PMID:16423367 PMID:16945901 PMID:17394531 PMID:17543992 PMID:18301754 PMID:19259395 PMID:19483195 PMID:20075587 PMID:20184521 PMID:20472325 PMID:21549128 PMID:23280792 PMID:23286750 PMID:23726301 PMID:23773010 PMID:23873540 PMID:24439480 PMID:25741868 PMID:26362407 PMID:26467025 PMID:28089114 PMID:28105640 PMID:28291249 PMID:28430856 PMID:28492532 PMID:29982983 PMID:30637102 PMID:31314961 PMID:31332433 PMID:32789025 PMID:34721532 PMID:39825153 More...
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NCBI chrNW_004936500:10,345,154...10,352,873
Ensembl chrNW_004936500:10,345,154...10,352,867
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G
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Slc1a4
|
solute carrier family 1 member 4
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ISO
|
ClinVar Annotator: match by term: SLC1A4-related condition | ClinVar Annotator: match by term: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly
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OMIM ClinVar |
PMID:2837306 PMID:25741868 PMID:25930971 PMID:26041762 PMID:26138499 PMID:27193218 PMID:27848944 PMID:28327206 PMID:28492532 PMID:29989513 PMID:30125339 PMID:32404165 PMID:33528536 PMID:34174466 PMID:39825153 More...
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|
NCBI chrNW_004936491:9,761,002...9,790,535
Ensembl chrNW_004936491:9,760,952...9,790,536
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G
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Klc2
|
kinesin light chain 2
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ISO
|
ClinVar Annotator: match by term: KLC2-related condition | ClinVar Annotator: match by term: Spastic paraplegia, optic atropy, and neuropathy
|
OMIM ClinVar |
PMID:24482476 PMID:25741868 PMID:26385635 PMID:28492532 |
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NCBI chrNW_004936599:3,325,013...3,334,366
Ensembl chrNW_004936599:3,325,015...3,334,434
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G
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Grid2
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glutamate ionotropic receptor delta type subunit 2
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ISO
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ClinVar Annotator: match by term: Troyer syndrome
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ClinVar |
PMID:24122788 |
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NCBI chrNW_004936687:20,126...1,421,075
Ensembl chrNW_004936687:549,947...1,421,133
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G
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Spart
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spartin
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ISO
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ClinVar Annotator: match by term: SPART-related condition | ClinVar Annotator: match by term: Troyer syndrome
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OMIM ClinVar |
PMID:12134148 PMID:18413476 PMID:20437587 PMID:20504295 PMID:23699601 PMID:25558065 PMID:25741868 PMID:26003402 PMID:26467025 PMID:27112432 PMID:28492532 PMID:28679690 More...
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NCBI chrNW_004936472:30,467,975...30,525,880
Ensembl chrNW_004936472:30,467,964...30,504,624
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