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G |
ABHD16A |
abhydrolase domain containing 16A, phospholipase |
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IAGP |
ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia ClinVar Annotator: match by term: Complex hereditary spastic paraplegia |
ClinVar |
PMID:25741868 |
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NCBI chr 6:31,686,955...31,703,324
Ensembl chr 6:31,686,955...31,703,356
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G |
ADAM28 |
ADAM metallopeptidase domain 28 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
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NCBI chr 8:24,294,069...24,359,014
Ensembl chr 8:24,294,069...24,359,014
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G |
ADAM7-AS1 |
ADAM7, ADAMDEC1 and ADAM28 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
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NCBI chr 8:24,295,814...24,548,618
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G |
ALDH18A1 |
aldehyde dehydrogenase 18 family member A1 |
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IAGP |
DNA:mutations:cds: ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar RGD |
PMID:25741868 PMID:28492532 PMID:26026163 |
RGD:13434921 |
NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711
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G |
ALS2 |
alsin Rho guanine nucleotide exchange factor ALS2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:9536098 PMID:14676054 PMID:17576681 PMID:18852346 PMID:20077034 PMID:23881933 PMID:25174650 PMID:25363768 PMID:25558820 PMID:25741868 PMID:26257771 PMID:26467025 PMID:27790088 PMID:28407358 PMID:28430856 PMID:28492532 PMID:28714951 PMID:28832565 PMID:29525178 PMID:31182772 PMID:32397312 PMID:33770234 PMID:34011629 PMID:34670123 More...
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NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112
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G |
AMPD2 |
adenosine monophosphate deaminase 2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28832565 |
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NCBI chr 1:109,619,837...109,632,055
Ensembl chr 1:109,616,104...109,632,051
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G |
AP4B1 |
adaptor related protein complex 4 subunit beta 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:18414213 PMID:22290197 PMID:24700674 PMID:24781758 PMID:25167861 PMID:25741868 PMID:26544806 PMID:26637979 PMID:28492532 PMID:28832565 PMID:29193663 PMID:32979048 PMID:33594065 More...
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NCBI chr 1:113,894,194...113,905,028
Ensembl chr 1:113,894,194...113,905,712
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G |
AP4B1-AS1 |
AP4B1 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:18414213 PMID:22290197 PMID:24700674 PMID:24781758 PMID:25167861 PMID:25741868 PMID:26544806 PMID:26637979 PMID:28492532 PMID:28832565 PMID:29193663 PMID:32979048 PMID:33594065 More...
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NCBI chr 1:113,812,612...113,901,237
Ensembl chr 1:113,856,635...113,901,237
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G |
AP4E1 |
adaptor related protein complex 4 subunit epsilon 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:18414213 PMID:25741868 PMID:26350204 PMID:26544806 PMID:28492532 |
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NCBI chr15:50,907,492...51,005,895
Ensembl chr15:50,908,672...51,005,895
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G |
AP4M1 |
adaptor related protein complex 4 subunit mu 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:24700674 PMID:25326635 PMID:25496299 PMID:25558065 PMID:25741868 PMID:28492532 PMID:28832565 PMID:32979048 PMID:33001864 More...
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NCBI chr 7:100,100,794...100,109,039
Ensembl chr 7:100,100,898...100,110,345
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G |
AP4S1 |
adaptor related protein complex 4 subunit sigma 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:18414213 PMID:25741868 PMID:26350204 PMID:28492532 |
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NCBI chr14:31,025,106...31,096,450
Ensembl chr14:31,025,106...31,130,996
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G |
AP5B1 |
adaptor related protein complex 5 subunit beta 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:28832565 |
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NCBI chr11:65,773,898...65,780,976
Ensembl chr11:65,773,898...65,780,976
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G |
AP5Z1 |
adaptor related protein complex 5 subunit zeta 1 |
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IAGP |
DNA:mutations: : ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar Annotator: match by term: Spastic Paraplegia, Recessive |
ClinVar RGD |
PMID:9536098 PMID:17576681 PMID:20613862 PMID:24033266 PMID:24833714 PMID:24926664 PMID:25333062 PMID:25741868 PMID:26467025 PMID:27606357 PMID:28492532 PMID:28832565 PMID:20613862 More...
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RGD:9684952 |
NCBI chr 7:4,775,623...4,794,397
Ensembl chr 7:4,775,615...4,794,397
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G |
ARHGAP9 |
Rho GTPase activating protein 9 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:28832565 |
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NCBI chr12:57,472,269...57,488,824
Ensembl chr12:57,472,264...57,488,814
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G |
ARSI |
arylsulfatase family member I |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:28492532 PMID:28832565 |
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NCBI chr 5:150,296,343...150,302,905
Ensembl chr 5:150,296,343...150,339,307
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G |
ATL1 |
atlastin GTPase 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar Annotator: match by term: Spastic Paraplegia, Recessive |
ClinVar |
PMID:8252041 PMID:11685207 PMID:14607301 PMID:15517445 PMID:15596607 PMID:15742100 PMID:16401858 PMID:16537571 PMID:16612642 PMID:17285536 PMID:17321752 PMID:17427918 PMID:17502470 PMID:19423133 PMID:19652243 PMID:20718791 PMID:20816793 PMID:20862796 PMID:20932283 PMID:20947813 PMID:21336785 PMID:21494555 PMID:22581552 PMID:23079343 PMID:23233086 PMID:23334294 PMID:23400676 PMID:24473461 PMID:24482476 PMID:24604904 PMID:25193411 PMID:25341883 PMID:25637064 PMID:25741868 PMID:25761634 PMID:26208798 PMID:26374131 PMID:26467025 PMID:27751653 PMID:28492532 PMID:29934652 PMID:29980238 PMID:30780198 PMID:31227335 PMID:31630374 PMID:31920481 PMID:32322428 PMID:32581362 PMID:34546351 PMID:34808209 More...
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NCBI chr14:50,533,082...50,633,068
Ensembl chr14:50,532,509...50,634,017
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G |
BICD2 |
BICD cargo adaptor 2 |
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IAGP |
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 chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833
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G |
BORCS7 |
BLOC-1 related complex subunit 7 |
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ISS |
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MouseDO |
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NCBI chr10:102,854,259...102,864,961
Ensembl chr10:102,854,259...102,864,961
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G |
BSCL2 |
BSCL2 lipid droplet biogenesis associated, seipin |
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IAGP |
SPG17, OMIM:270685, DNA:point mutation:exon:N88S ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar RGD |
PMID:1674639 PMID:5964029 PMID:11479539 PMID:14981520 PMID:15126564 PMID:15732094 PMID:16427281 PMID:16574104 PMID:17387721 PMID:18585921 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:28492532 PMID:28832565 PMID:31824185 PMID:32320108 PMID:35351089 PMID:13680364 More...
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RGD:1600602 |
NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845
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G |
C19orf12 |
chromosome 19 open reading frame 12 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:21981780 PMID:23269600 PMID:24361204 PMID:25558065 PMID:25741868 PMID:27112773 PMID:28492532 PMID:28832565 PMID:31087512 PMID:31105013 PMID:32552793 More...
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NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789
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G |
CCT5 |
chaperonin containing TCP1 subunit 5 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:28492532 PMID:28832565 |
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NCBI chr 5:10,249,921...10,266,412
Ensembl chr 5:10,249,929...10,266,389
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G |
CEP63 |
centrosomal protein 63 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:28488683 |
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NCBI chr 3:134,485,724...134,782,559
Ensembl chr 3:134,485,699...134,587,789
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G |
CNNM2 |
cyclin and CBS domain divalent metal cation transport mediator 2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:102,918,294...103,090,222
Ensembl chr10:102,918,294...103,090,222
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G |
CYP2U1 |
cytochrome P450 family 2 subfamily U member 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:14660610 PMID:23176821 PMID:25741868 PMID:28492532 PMID:29034544 PMID:33107650 PMID:36166872 More...
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NCBI chr 4:107,931,549...107,953,461
Ensembl chr 4:107,931,549...107,953,461
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G |
CYP2U1-AS1 |
CYP2U1 and SGMS2 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29034544 |
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NCBI chr 4:107,863,479...107,932,119
Ensembl chr 4:107,863,473...107,989,724
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G |
CYP7B1 |
cytochrome P450 family 7 subfamily B member 1 |
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IAGP EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:1943942 PMID:7987300 PMID:9536098 PMID:9802883 PMID:12874406 PMID:15007371 PMID:17503452 PMID:17576681 PMID:18252231 PMID:18367963 PMID:18855023 PMID:19187859 PMID:19363635 PMID:19439420 PMID:19812052 PMID:21214876 PMID:21541746 PMID:21567895 PMID:21623769 PMID:21966169 PMID:22384504 PMID:23812641 PMID:24033266 PMID:24117163 PMID:24340040 PMID:24641183 PMID:24658845 PMID:24927729 PMID:25324891 PMID:25326635 PMID:25525159 PMID:25741868 PMID:26370385 PMID:26467025 PMID:26714052 PMID:27077743 PMID:27217339 PMID:27879216 PMID:27879220 PMID:27957547 PMID:28039895 PMID:28492532 PMID:28832565 PMID:29126212 PMID:29228183 PMID:29246610 PMID:29980238 PMID:31589614 PMID:32202070 PMID:33160247 PMID:34426522 More...
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NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737
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G |
DCLRE1B |
DNA cross-link repair 1B |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:113,904,619...113,914,086
Ensembl chr 1:113,904,619...113,914,086
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G |
DDHD1 |
DDHD domain containing 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:23176821 PMID:24989667 PMID:25741868 PMID:26944165 PMID:27216551 PMID:28492532 More...
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NCBI chr14:53,036,755...53,153,323
Ensembl chr14:53,036,745...53,153,323
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G |
DDHD2 |
DDHD domain containing 2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:9536098 PMID:17576681 PMID:23176823 PMID:24337409 PMID:24517879 PMID:25417924 PMID:25558065 PMID:25741868 PMID:28492532 PMID:32488064 More...
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NCBI chr 8:38,231,585...38,273,647
Ensembl chr 8:38,225,218...38,275,558
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G |
DNAJC16 |
DnaJ heat shock protein family (Hsp40) member C16 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
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NCBI chr 1:15,526,848...15,571,733
Ensembl chr 1:15,526,813...15,592,379
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G |
EIF3J |
eukaryotic translation initiation factor 3 subunit J |
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IAGP |
ClinVar Annotator: match by term: Spastic Paraplegia, Recessive |
ClinVar |
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NCBI chr15:44,537,147...44,562,803
Ensembl chr15:44,537,125...44,563,029
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G |
ENTPD1 |
ectonucleoside triphosphate diphosphohydrolase 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:95,694,186...95,877,266
Ensembl chr10:95,711,779...95,877,266
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G |
ENTPD1-AS1 |
ENTPD1 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:95,753,206...96,090,235
Ensembl chr10:95,732,976...96,090,250
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G |
ERLIN1 |
ER lipid raft associated 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 |
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NCBI chr10:100,150,094...100,186,029
Ensembl chr10:100,150,094...100,186,033
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G |
ERLIN2 |
ER lipid raft associated 2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:18414213 PMID:25741868 PMID:28492532 PMID:28832565 PMID:32147972 |
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NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422
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G |
FA2H |
fatty acid 2-hydroxylase |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:18414213 PMID:24033266 PMID:24299421 PMID:24833714 PMID:25356970 PMID:25741868 PMID:26467025 PMID:27217339 PMID:27957547 PMID:28017243 PMID:28492532 PMID:30713878 PMID:31135052 PMID:31429931 PMID:32624042 PMID:33144682 PMID:35578252 More...
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NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831
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G |
FANCI |
FA complementation group I |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:21880868 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:28492532 PMID:35478072 More...
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NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261
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G |
FLRT1 |
fibronectin leucine rich transmembrane protein 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:28832565 |
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NCBI chr11:64,035,931...64,119,171
Ensembl chr11:64,035,931...64,119,173
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G |
GAD1 |
glutamate decarboxylase 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28832565 |
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NCBI chr 2:170,813,210...170,861,151
Ensembl chr 2:170,813,213...170,861,151
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G |
GBA2 |
glucosylceramidase beta 2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:20593214 PMID:23332916 PMID:23332917 PMID:25741868 PMID:26220345 PMID:28492532 PMID:28832565 More...
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NCBI chr 9:35,736,866...35,749,228
Ensembl chr 9:35,736,866...35,749,228
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G |
GJC2 |
gap junction protein gamma 2 |
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IAGP |
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 chr 1:228,149,930...228,159,826
Ensembl chr 1:228,149,930...228,159,826
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G |
HNRNPUL2-BSCL2 |
HNRNPUL2-BSCL2 readthrough (NMD candidate) |
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IAGP |
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: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:28492532 PMID:28832565 PMID:31824185 PMID:32320108 PMID:35351089 More...
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NCBI chr11:62,690,262...62,727,384
Ensembl chr11:62,690,275...62,727,384
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G |
HSPD1 |
heat shock protein family D (Hsp60) member 1 |
susceptibility |
IAGP |
DNA:missense mutation: :p.V72I ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar RGD |
PMID:18414213 PMID:22552817 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27630992 PMID:28492532 PMID:28832565 PMID:11898127 More...
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RGD:1624200 |
NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737
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G |
JAK3 |
Janus kinase 3 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
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NCBI chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071
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G |
KIF1A |
kinesin family member 1A |
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IAGP |
DNA:missense mutations: :p.V8M, p.I27T (human) ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive |
ClinVar RGD |
PMID:9536098 PMID:17576681 PMID:21376300 PMID:25265257 PMID:25585697 PMID:25741868 PMID:26077850 PMID:26125038 PMID:26354034 PMID:26410750 PMID:26467025 PMID:27034427 PMID:27681307 PMID:28492532 PMID:28554332 PMID:28832565 PMID:28970574 PMID:29159194 PMID:29590070 PMID:29691679 PMID:31488895 PMID:31796088 PMID:32096284 PMID:32860008 PMID:33880452 PMID:28362824 More...
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RGD:12911231 |
NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293
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G |
KIF1C |
kinesin family member 1C |
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IAGP |
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 chr17:4,997,950...5,028,401
Ensembl chr17:4,997,950...5,028,401
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G |
KIF5A |
kinesin family member 5A |
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IAGP |
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:15452312 PMID:18203753 PMID:18500496 PMID:18853458 PMID:21623771 PMID:25008398 PMID:25695920 PMID:25741868 PMID:26467025 PMID:26543653 PMID:28492532 PMID:28678816 PMID:28708278 PMID:28832565 PMID:29892902 PMID:30057544 PMID:31211173 PMID:31403080 PMID:31475037 PMID:33059505 PMID:33310205 PMID:34715294 PMID:35578252 PMID:37524782 More...
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NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633
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G |
KY |
kyphoscoliosis peptidase |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:28488683 |
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NCBI chr 3:134,599,923...134,651,022
Ensembl chr 3:134,599,923...134,651,636
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G |
L1CAM |
L1 cell adhesion molecule |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:9195224 PMID:9268105 PMID:10797421 PMID:11438988 PMID:11772994 PMID:16760466 PMID:18414213 PMID:19846429 PMID:22222883 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30487145 More...
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NCBI chr X:153,861,514...153,886,173
Ensembl chr X:153,861,514...153,886,173
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G |
L2HGDH |
L-2-hydroxyglutarate dehydrogenase |
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IAGP |
DNA:mutation:cds:c.241A4G(p.K81E)(human) |
RGD |
PMID:24573090 |
RGD:13506824 |
NCBI chr14:50,242,434...50,312,229
Ensembl chr14:50,237,563...50,312,229
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G |
LOC126805822 |
BRD4-independent group 4 enhancer GRCh37_chr1:110170748-110171947 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28832565 |
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NCBI chr 1:109,627,640...109,629,325
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G |
LOC126806583 |
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:241678910-241680109 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 2:240,739,493...240,740,692
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G |
LOC126860498 |
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:126043836-126045035 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:24215330 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 8:125,031,594...125,032,793
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G |
LOC126860782 |
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:135144739-135145938 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 9:132,268,683...132,270,655
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G |
LOC126862472 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:4906716-4907915 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:5,003,421...5,004,620
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G |
LOC126862473 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:4923264-4924463 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 |
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NCBI chr17:5,019,969...5,021,168
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G |
LOC129931235 |
ATAC-STARR-seq lymphoblastoid active region 1540 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:28492532 |
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G |
LOC129935332 |
ATAC-STARR-seq lymphoblastoid silent region 12206 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 |
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G |
LOC129992929 |
ATAC-STARR-seq lymphoblastoid active region 21791 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:28492532 |
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G |
LOC129993763 |
ATAC-STARR-seq lymphoblastoid silent region 15958 |
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IAGP |
ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia |
ClinVar |
PMID:28492532 |
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G |
LOC129997861 |
ATAC-STARR-seq lymphoblastoid active region 25565 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:26467025 |
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G |
LOC129997864 |
ATAC-STARR-seq lymphoblastoid silent region 17903 |
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IAGP |
ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 |
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G |
LOC130000507 |
ATAC-STARR-seq lymphoblastoid silent region 19243 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 |
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NCBI chr 8:64,798,535...64,798,644
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G |
LOC130009366 |
ATAC-STARR-seq lymphoblastoid silent region 5172 |
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IAGP |
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:25741868 PMID:28492532 |
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NCBI chr13:23,375,088...23,375,897
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G |
LOC130056519 |
ATAC-STARR-seq lymphoblastoid silent region 6116 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 |
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NCBI chr14:102,438,109...102,438,158
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G |
LOC130056709 |
ATAC-STARR-seq lymphoblastoid silent region 6259 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr15:22,786,512...22,786,871
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G |
LOC130059394 |
ATAC-STARR-seq lymphoblastoid silent region 7701 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32624042 |
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NCBI chr16:74,774,547...74,774,916
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G |
LOC130059818 |
ATAC-STARR-seq lymphoblastoid silent region 7911 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:16534102 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32483926 PMID:33841295 More...
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NCBI chr16:89,508,187...89,508,746
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G |
LOC130063377 |
ATAC-STARR-seq lymphoblastoid active region 13887 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 |
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NCBI chr19:7,535,552...7,535,791
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G |
MACROD1 |
mono-ADP ribosylhydrolase 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:28832565 |
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NCBI chr11:63,998,558...64,166,113
Ensembl chr11:63,998,558...64,166,113
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G |
MAG |
myelin associated glycoprotein |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28832565 PMID:31402626 |
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NCBI chr19:35,292,161...35,313,807
Ensembl chr19:35,292,125...35,313,807
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G |
MARS1 |
methionyl-tRNA synthetase 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:28832565 |
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NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569
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G |
MCOLN1 |
mucolipin TRP cation channel 1 |
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IAGP |
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:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr19:7,522,624...7,534,009
Ensembl chr19:7,522,624...7,534,009
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G |
MILR1 |
mast cell immunoglobulin like receptor 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 PMID:24033266 PMID:25741868 PMID:26123486 PMID:26251896 PMID:27535533 PMID:28492532 PMID:31286721 More...
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NCBI chr17:64,449,115...64,497,356
Ensembl chr17:64,449,037...64,468,643
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G |
MIR6766 |
microRNA 6766 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr15:89,326,739...89,326,810
Ensembl chr15:89,326,739...89,326,810
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G |
MTRFR |
mitochondrial translation release factor in rescue |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:123,232,914...123,257,960
Ensembl chr12:123,233,385...123,258,079
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G |
MYT1 |
myelin transcription factor 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
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NCBI chr20:64,164,452...64,242,253
Ensembl chr20:64,102,394...64,242,253
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G |
NIPA1 |
NIPA magnesium transporter 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:15643603 PMID:15711826 PMID:16267846 PMID:17092466 PMID:17166836 PMID:18191948 PMID:19091982 PMID:19620182 PMID:20816793 PMID:21599812 PMID:22302102 PMID:24075313 PMID:24128679 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28832565 PMID:29934652 PMID:31104286 PMID:31630374 PMID:32500351 PMID:32581362 More...
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NCBI chr15:22,786,225...22,829,789
Ensembl chr15:22,773,063...22,829,789
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G |
NRG1 |
neuregulin 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
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NCBI chr 8:31,639,245...32,774,046
Ensembl chr 8:31,639,222...32,855,666
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G |
NT5C2 |
5'-nucleotidase, cytosolic II |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 |
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NCBI chr10:103,088,017...103,193,272
Ensembl chr10:103,087,185...103,277,605
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G |
PGAP1 |
post-GPI attachment to proteins inositol deacylase 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:196,833,004...196,926,707
Ensembl chr 2:196,833,004...196,927,796
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G |
PLEKHG5 |
pleckstrin homology and RhoGEF domain containing G5 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
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NCBI chr 1:6,467,122...6,520,092
Ensembl chr 1:6,467,122...6,520,074
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G |
PLP1 |
proteolipid protein 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:10319897 PMID:15712223 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr X:103,776,506...103,792,619
Ensembl chr X:103,773,718...103,792,619
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G |
PNPLA6 |
patatin like phospholipase domain containing 6 |
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EXP IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive |
CTD ClinVar |
PMID:3963113 PMID:8053762 PMID:18313024 PMID:20382209 PMID:20603202 PMID:23733235 PMID:24355708 PMID:25033069 PMID:25133958 PMID:25299038 PMID:25359264 PMID:25480986 PMID:25574898 PMID:25741868 PMID:26467025 PMID:26995604 PMID:27866050 PMID:28492532 PMID:29221171 PMID:29248984 PMID:30555943 PMID:30564185 PMID:31048186 PMID:31135245 PMID:33141049 PMID:34426522 More...
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NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764
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G |
POLG |
DNA polymerase gamma, catalytic subunit |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia |
ClinVar |
PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 PMID:11555352 PMID:11571332 PMID:12073019 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14557557 PMID:14635118 PMID:14694057 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15534189 PMID:15689359 PMID:15824347 PMID:15913923 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16715201 PMID:16857757 PMID:16896309 PMID:16929381 PMID:16940310 PMID:16943369 PMID:17088268 PMID:17418573 PMID:17426723 PMID:17436221 PMID:17438011 PMID:17452231 PMID:17846414 PMID:17950645 PMID:17980715 PMID:18195151 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19364868 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19762913 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:19887119 PMID:20138553 PMID:20142534 PMID:20176107 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20513108 PMID:20513922 PMID:20576279 PMID:20691285 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20981092 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21259344 PMID:21276947 PMID:21301859 PMID:21357833 PMID:21484424 PMID:21515089 PMID:21647632 PMID:21670405 PMID:21686371 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22114710 PMID:22189570 PMID:22237560 PMID:22342071 PMID:22357363 PMID:22494076 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22931735 PMID:22933815 PMID:22987704 PMID:22995991 PMID:23066759 PMID:23084792 PMID:23212759 PMID:23250882 PMID:23251356 PMID:23324391 PMID:23419467 PMID:23426270 PMID:23430834 PMID:23448099 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23921535 PMID:24033266 PMID:24091540 PMID:24122062 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24331360 PMID:24508722 PMID:24642831 PMID:24725338 PMID:25118206 PMID:25193669 PMID:25203713 PMID:25286830 PMID:25356970 PMID:25462018 PMID:25488682 PMID:25585994 PMID:25660390 PMID:25741868 PMID:25742477 PMID:25850945 PMID:25852747 PMID:25940035 PMID:26077851 PMID:26095671 PMID:26104464 PMID:26224072 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26735972 PMID:26742794 PMID:26942291 PMID:26942292 PMID:26968897 PMID:27016405 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27422324 PMID:27538604 PMID:27917773 PMID:27987238 PMID:28074849 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28337550 PMID:28444220 PMID:28471437 PMID:28492532 PMID:28756246 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28901595 PMID:28958595 PMID:29029963 PMID:29190809 PMID:29214156 PMID:29341116 PMID:29358615 PMID:29431110 PMID:29474836 PMID:29588995 PMID:29655203 PMID:29992832 PMID:29997391 PMID:30167885 PMID:30255931 PMID:30369941 PMID:30373890 PMID:30404819 PMID:30423451 PMID:30451971 PMID:30487145 PMID:30609409 PMID:30637288 PMID:30843307 PMID:30936349 PMID:30941926 PMID:30951992 PMID:31085725 PMID:31589614 PMID:31645654 PMID:31655921 PMID:31658717 PMID:31665838 PMID:31669236 PMID:31980526 PMID:32165824 PMID:32234506 PMID:32348839 PMID:32391929 PMID:32445240 PMID:32502631 PMID:32964447 PMID:33233646 PMID:33396418 PMID:33473333 PMID:33486010 PMID:33513296 PMID:33579567 PMID:33671400 PMID:33683010 PMID:33726816 PMID:33791913 PMID:33956154 PMID:34008892 PMID:34052969 PMID:34062649 PMID:34194468 PMID:34426522 PMID:34670123 PMID:34690748 PMID:34782754 PMID:34927673 PMID:35114397 PMID:35350396 PMID:35478072 PMID:35598585 PMID:35699875 PMID:35799515 PMID:36325100 PMID:36332611 PMID:36987741 PMID:37184518 PMID:37189790 More...
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NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
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G |
POLG2 |
DNA polymerase gamma 2, accessory subunit |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 PMID:24033266 PMID:25741868 PMID:26123486 PMID:26251896 PMID:27535533 PMID:28492532 PMID:31286721 More...
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NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054
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G |
POLGARF |
POLG alternative reading frame |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 PMID:11555352 PMID:11571332 PMID:12073019 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14557557 PMID:14635118 PMID:14694057 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15534189 PMID:15689359 PMID:15824347 PMID:15913923 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16715201 PMID:16857757 PMID:16896309 PMID:16929381 PMID:16940310 PMID:16943369 PMID:17088268 PMID:17418573 PMID:17426723 PMID:17436221 PMID:17438011 PMID:17452231 PMID:17846414 PMID:17950645 PMID:17980715 PMID:18195151 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19364868 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19762913 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:19887119 PMID:20138553 PMID:20142534 PMID:20176107 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20513108 PMID:20513922 PMID:20576279 PMID:20691285 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20981092 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21259344 PMID:21276947 PMID:21301859 PMID:21357833 PMID:21484424 PMID:21515089 PMID:21647632 PMID:21670405 PMID:21686371 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21993618 PMID:22000311 PMID:22006280 PMID:22114710 PMID:22189570 PMID:22237560 PMID:22342071 PMID:22357363 PMID:22494076 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22931735 PMID:22933815 PMID:22987704 PMID:22995991 PMID:23066759 PMID:23084792 PMID:23212759 PMID:23250882 PMID:23251356 PMID:23324391 PMID:23419467 PMID:23426270 PMID:23430834 PMID:23448099 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23921535 PMID:24033266 PMID:24091540 PMID:24122062 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24331360 PMID:24508722 PMID:24642831 PMID:24725338 PMID:25118206 PMID:25193669 PMID:25203713 PMID:25286830 PMID:25356970 PMID:25462018 PMID:25488682 PMID:25585994 PMID:25660390 PMID:25741868 PMID:25742477 PMID:25850945 PMID:25852747 PMID:25940035 PMID:26077851 PMID:26095671 PMID:26104464 PMID:26224072 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26735972 PMID:26742794 PMID:26942291 PMID:26942292 PMID:26968897 PMID:27016405 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27422324 PMID:27538604 PMID:27917773 PMID:27987238 PMID:28074849 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28337550 PMID:28444220 PMID:28471437 PMID:28492532 PMID:28756246 PMID:28771251 PMID:28776642 PMID:28812649 PMID:28901595 PMID:28958595 PMID:29029963 PMID:29190809 PMID:29214156 PMID:29341116 PMID:29358615 PMID:29431110 PMID:29474836 PMID:29588995 PMID:29655203 PMID:29992832 PMID:29997391 PMID:30167885 PMID:30255931 PMID:30369941 PMID:30373890 PMID:30404819 PMID:30423451 PMID:30451971 PMID:30487145 PMID:30609409 PMID:30637288 PMID:30843307 PMID:30936349 PMID:30941926 PMID:30951992 PMID:31085725 PMID:31589614 PMID:31645654 PMID:31655921 PMID:31658717 PMID:31665838 PMID:31669236 PMID:31980526 PMID:32165824 PMID:32234506 PMID:32348839 PMID:32391929 PMID:32445240 PMID:32502631 PMID:32964447 PMID:33233646 PMID:33396418 PMID:33473333 PMID:33486010 PMID:33513296 PMID:33579567 PMID:33671400 PMID:33683010 PMID:33726816 PMID:33791913 PMID:33956154 PMID:34008892 PMID:34052969 PMID:34062649 PMID:34194468 PMID:34426522 PMID:34670123 PMID:34690748 PMID:34782754 PMID:34927673 PMID:35114397 PMID:35350396 PMID:35478072 PMID:35598585 PMID:35699875 PMID:35799515 PMID:36325100 PMID:36332611 PMID:36987741 PMID:37184518 PMID:37189790 More...
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NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,330,208...89,333,809
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G |
PQBP1 |
polyglutamine binding protein 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14634649 |
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NCBI chr X:48,897,930...48,903,143
Ensembl chr X:48,890,197...48,903,402
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G |
PURA |
purine rich element binding protein A |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 |
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NCBI chr 5:140,114,109...140,125,619
Ensembl chr 5:140,107,777...140,125,619
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G |
RAB9B |
RAB9B, member RAS oncogene family |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:10319897 PMID:15712223 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr X:103,776,324...103,832,257
Ensembl chr X:103,822,327...103,832,257
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G |
REEP1 |
receptor accessory protein 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:16199547 PMID:16826527 PMID:18321925 PMID:18644145 PMID:19034539 PMID:19072839 PMID:20718791 PMID:22703882 PMID:23812641 PMID:24098485 PMID:24478229 PMID:25525159 PMID:25741868 PMID:26201691 PMID:26467025 PMID:28492532 PMID:28832565 PMID:29629531 PMID:30637453 PMID:32581362 More...
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NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083
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G |
RETREG1 |
reticulophagy regulator 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 |
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NCBI chr 5:16,473,053...16,616,997
Ensembl chr 5:16,473,038...16,617,101
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G |
RETREG1-AS1 |
RETREG1 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 |
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NCBI chr 5:16,615,926...16,629,969
Ensembl chr 5:16,615,926...16,681,905
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G |
RTN2 |
reticulon 2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr19:45,485,294...45,497,047
Ensembl chr19:45,485,294...45,497,055
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G |
SACS |
sacsin molecular chaperone |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:10610707 PMID:10655055 PMID:11788093 PMID:14718706 PMID:15156359 PMID:18414213 PMID:18465152 PMID:19779133 PMID:19892370 PMID:20301432 PMID:20852969 PMID:20876471 PMID:21450511 PMID:21507954 PMID:21745802 PMID:22287014 PMID:22307627 PMID:23123642 PMID:23250129 PMID:23280630 PMID:23497566 PMID:24108619 PMID:24457356 PMID:25401298 PMID:25405613 PMID:25497598 PMID:25741868 PMID:25887915 PMID:26302956 PMID:26410750 PMID:26467025 PMID:26539891 PMID:27288452 PMID:27433545 PMID:27871429 PMID:27965395 PMID:27980752 PMID:28251916 PMID:28454995 PMID:28492532 PMID:28535259 PMID:28641335 PMID:28658401 PMID:28832565 PMID:29220673 PMID:29379980 PMID:29449188 PMID:29482223 PMID:29538656 PMID:29915382 PMID:30271475 PMID:30460542 PMID:30638817 PMID:30680480 PMID:30901567 PMID:31519934 PMID:31637422 PMID:31673878 PMID:33624863 PMID:34426522 PMID:34600502 PMID:34786481 PMID:36233161 More...
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NCBI chr13:23,328,830...23,433,702
Ensembl chr13:23,288,689...23,433,763
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G |
SETX |
senataxin |
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IAGP |
ClinVar Annotator: match by term: Hereditary 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:27790088 PMID:28130640 PMID:28492532 PMID:28642336 PMID:28832565 PMID:29411640 PMID:29650794 PMID:31957062 PMID:32253937 PMID:32397312 PMID:33770234 More...
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NCBI chr 9:132,261,356...132,356,744
Ensembl chr 9:132,261,356...132,354,986
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G |
SLC16A2 |
solute carrier family 16 member 2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:18414213 PMID:20301789 PMID:23568789 PMID:24265446 PMID:24721225 PMID:25527620 PMID:25741868 PMID:27212794 PMID:28492532 PMID:28832565 More...
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NCBI chr X:74,421,493...74,533,916
Ensembl chr X:74,421,493...74,533,917
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G |
SLC1A5 |
solute carrier family 1 member 5 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
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NCBI chr19:46,774,883...46,788,594
Ensembl chr19:46,774,883...46,788,594
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G |
SLC33A1 |
solute carrier family 33 member 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:24583203 PMID:25741868 PMID:26467025 PMID:28492532 PMID:35588347 |
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NCBI chr 3:155,821,024...155,854,427
Ensembl chr 3:155,821,024...155,854,456
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G |
SPART |
spartin |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:23699601 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr13:36,301,638...36,370,180
Ensembl chr13:36,301,638...36,370,180
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G |
SPAST |
spastin |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:9536098 PMID:10610178 PMID:10699187 PMID:11015453 PMID:11039577 PMID:11087788 PMID:11309678 PMID:11809724 PMID:11843700 PMID:12124993 PMID:12161613 PMID:12552568 PMID:15095758 PMID:15159500 PMID:15210521 PMID:15248095 PMID:15326248 PMID:15482961 PMID:15716377 PMID:15841487 PMID:16009769 PMID:16055926 PMID:16199547 PMID:16240363 PMID:16476945 PMID:16682546 PMID:16832076 PMID:17576681 PMID:17594340 PMID:17597328 PMID:17598600 PMID:17690846 PMID:17895902 PMID:17916079 PMID:17957230 PMID:17971434 PMID:18202664 PMID:18608088 PMID:18613979 PMID:18701882 PMID:19289482 PMID:19423133 PMID:19438933 PMID:19875132 PMID:20214791 PMID:20301339 PMID:20430936 PMID:20559269 PMID:20562464 PMID:20665701 PMID:20718791 PMID:20932283 PMID:21834905 PMID:21888932 PMID:22552817 PMID:22817815 PMID:22960362 PMID:23252998 PMID:23264559 PMID:23400676 PMID:24033003 PMID:24033266 PMID:24381312 PMID:24451228 PMID:24857849 PMID:25045380 PMID:25326637 PMID:25341883 PMID:25421405 PMID:25454648 PMID:25525159 PMID:25658484 PMID:25741868 PMID:25741869 PMID:26208798 PMID:26374131 PMID:26467025 PMID:26600529 PMID:26671083 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:30476002 PMID:30528841 PMID:30564185 PMID:30778698 PMID:31157359 PMID:31227335 PMID:31594988 PMID:31630374 PMID:31751864 PMID:31851166 PMID:32092540 PMID:33624935 PMID:34008892 PMID:34445196 PMID:34753439 PMID:34983064 More...
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NCBI chr 2:32,063,556...32,157,637
Ensembl chr 2:32,063,556...32,157,637
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G |
SPG11 |
SPG11 vesicle trafficking associated, spatacsin |
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IAGP |
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: Spastic Paraplegia, Recessive |
ClinVar |
PMID:9536098 PMID:16199547 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:20110243 PMID:20301389 PMID:21625935 PMID:22154821 PMID:22175763 PMID:22237444 PMID:22246010 PMID:22696581 PMID:23121729 PMID:23221952 PMID:23443022 PMID:23733235 PMID:24033266 PMID:24090761 PMID:24451228 PMID:24731568 PMID:24833714 PMID:25059394 PMID:25174650 PMID:25299611 PMID:25525159 PMID:25588603 PMID:25741868 PMID:26046366 PMID:26183056 PMID:26374131 PMID:26467025 PMID:26556829 PMID:26601740 PMID:26755014 PMID:27066562 PMID:27071356 PMID:27180005 PMID:27217339 PMID:27457812 PMID:27790088 PMID:27884173 PMID:27900367 PMID:27904835 PMID:27957547 PMID:28130640 PMID:28492532 PMID:28832565 PMID:29525178 PMID:29691679 PMID:29732542 PMID:29908077 PMID:29980238 PMID:30081747 PMID:30212743 PMID:30778698 PMID:31289639 PMID:31407473 PMID:31589614 PMID:32005694 PMID:32166880 PMID:32293029 PMID:32397312 PMID:32409511 PMID:32483926 PMID:32579787 PMID:32671691 PMID:32987860 PMID:33059505 PMID:33098801 PMID:33589474 PMID:33624863 PMID:35066644 PMID:35254204 PMID:35326432 PMID:35464835 PMID:36028943 PMID:36139378 More...
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NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688
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G |
SPG21 |
SPG21 abhydrolase domain containing, maspardin |
susceptibility |
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar RGD |
PMID:6024251 PMID:14564668 PMID:16199547 PMID:25741868 PMID:26467025 PMID:28492532 PMID:14564668 More...
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RGD:1556574 |
NCBI chr15:64,963,022...64,989,914
Ensembl chr15:64,963,022...64,990,310
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G |
SPG7 |
SPG7 matrix AAA peptidase subunit, paraplegin |
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IAGP |
ClinVar Annotator: match by term: Spastic Paraplegia, Recessive ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:2779008 PMID:9536098 PMID:11222789 PMID:11478530 PMID:14722615 PMID:14985266 PMID:15507752 PMID:16357941 PMID:16534102 PMID:17384005 PMID:17576681 PMID:17646629 PMID:17661097 PMID:18200586 PMID:18414213 PMID:18563470 PMID:18799786 PMID:19841671 PMID:20108356 PMID:20186691 PMID:21623769 PMID:22554690 PMID:22571692 PMID:22964162 PMID:23065789 PMID:23269439 PMID:23733235 PMID:23812641 PMID:23953397 PMID:24033266 PMID:24401005 PMID:24466038 PMID:24727571 PMID:24731568 PMID:25034272 PMID:25133958 PMID:25277871 PMID:25497598 PMID:25681447 PMID:25741868 PMID:25850353 PMID:25976027 PMID:26094131 PMID:26244503 PMID:26260707 PMID:26365338 PMID:26374131 PMID:26467025 PMID:26506339 PMID:26626314 PMID:26671083 PMID:26756429 PMID:27016405 PMID:27084228 PMID:27123479 PMID:27165006 PMID:27217339 PMID:27260292 PMID:27790088 PMID:27957547 PMID:28362824 PMID:28444220 PMID:28492532 PMID:28608987 PMID:28812649 PMID:28832565 PMID:29026558 PMID:29057857 PMID:29246610 PMID:29246844 PMID:29431110 PMID:29482223 PMID:29915382 PMID:29970176 PMID:30098094 PMID:30533525 PMID:30537300 PMID:30747022 PMID:31068484 PMID:31345272 PMID:31407473 PMID:31433872 PMID:31692161 PMID:31980526 PMID:32153640 PMID:32161564 PMID:32270516 PMID:32397312 PMID:32447552 PMID:32483926 PMID:32581362 PMID:32816195 PMID:32973427 PMID:33624863 PMID:33841295 More...
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NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766
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G |
TECPR2 |
tectonin beta-propeller repeat containing 2 |
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EXP IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary spastic paraplegia |
CTD ClinVar |
PMID:9536098 PMID:17576681 PMID:23176824 PMID:25590979 PMID:25741868 PMID:26542466 PMID:27406698 PMID:28492532 PMID:29908077 PMID:30681437 PMID:32209221 PMID:32657593 PMID:33847017 More...
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NCBI chr14:102,362,941...102,502,477
Ensembl chr14:102,362,941...102,502,477
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G |
TWNK |
twinkle mtDNA helicase |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:21689831 PMID:25741868 PMID:26467025 PMID:28492532 PMID:35982159 |
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NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403
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G |
USP50 |
ubiquitin specific peptidase 50 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:28492532 |
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NCBI chr15:50,493,025...50,546,666
Ensembl chr15:50,494,018...50,546,708
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G |
USP8 |
ubiquitin specific peptidase 8 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 |
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NCBI chr15:50,424,405...50,514,421
Ensembl chr15:50,424,380...50,514,421
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G |
VPS37A |
VPS37A subunit of ESCRT-I |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:17,246,958...17,333,455
Ensembl chr 8:17,246,931...17,302,427
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G |
WASHC5 |
WASH complex subunit 5 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:17160902 PMID:20301727 PMID:20833645 PMID:23085491 PMID:24215330 PMID:25741868 PMID:26467025 PMID:27957547 PMID:28492532 PMID:28514442 PMID:30896870 PMID:31227335 PMID:31911435 PMID:32816195 PMID:34184482 More...
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NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819
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G |
WASHC5-AS1 |
WASHC5 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30896870 PMID:31227335 |
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NCBI chr 8:125,040,684...125,044,989
Ensembl chr 8:125,040,684...125,044,989
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G |
WDR48 |
WD repeat domain 48 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia |
ClinVar |
PMID:25741868 PMID:28832565 |
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NCBI chr 3:39,052,016...39,096,664
Ensembl chr 3:39,052,013...39,096,671
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G |
ZFR |
zinc finger RNA binding protein |
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IAGP |
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:9536098 PMID:17576681 PMID:25741868 PMID:28492532 |
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NCBI chr 5:32,354,350...32,444,740
Ensembl chr 5:32,354,350...32,444,740
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G |
ZFYVE26 |
zinc finger FYVE-type containing 26 |
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IAGP |
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: Spastic Paraplegia, Recessive |
ClinVar |
PMID:6944241 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18394578 PMID:19805727 PMID:19917823 PMID:24088041 PMID:24833714 PMID:25133958 PMID:25741868 PMID:26467025 PMID:26633545 PMID:28492532 PMID:28832565 PMID:29246610 PMID:29590070 PMID:31108397 More...
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NCBI chr14:67,728,892...67,816,590
Ensembl chr14:67,727,374...67,816,590
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DNAJC19 |
DnaJ heat shock protein family (Hsp40) member C19 |
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IAGP |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 |
ClinVar |
PMID:16055927 PMID:27928778 PMID:28492532 |
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NCBI chr 3:180,983,709...180,989,838
Ensembl chr 3:180,983,697...180,989,774
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LOC130064709 |
ATAC-STARR-seq lymphoblastoid active region 14802 |
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IAGP |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 ClinVar Annotator: match by term: Costeff optic atrophy syndrome |
ClinVar |
PMID:11668429 PMID:18985435 PMID:23700088 PMID:24749080 PMID:25201222 PMID:25205859 PMID:25741868 PMID:27629047 PMID:28492532 PMID:31119193 More...
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NCBI chr19:45,584,682...45,584,861
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OPA3 |
outer mitochondrial membrane lipid metabolism regulator OPA3 |
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IAGP ISS EXP |
ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 3 | ClinVar Annotator: match by term: Costeff optic atrophy syndrome OMIM:258501 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM |
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:32855858 PMID:32883240 More...
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NCBI chr19:45,527,427...45,584,802
Ensembl chr19:45,527,767...45,602,212
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ATP5MC3 |
ATP synthase membrane subunit c locus 3 |
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IAGP |
ClinVar Annotator: match by term: Dystonia, early-onset, and/or spastic paraplegia |
OMIM ClinVar |
PMID:19006192 PMID:34636445 PMID:34954817 |
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NCBI chr 2:175,176,258...175,181,710
Ensembl chr 2:175,176,258...175,181,710
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ALS2 |
alsin Rho guanine nucleotide exchange factor ALS2 |
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IAGP EXP |
ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis | ClinVar Annotator: match by term: Spastic paralysis, infantile onset ascending CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
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:25741916 PMID:26257771 PMID:26467025 PMID:26742954 PMID:27159321 PMID:27601211 PMID:27790088 PMID:28160950 PMID:28407358 PMID:28430856 PMID:28492532 PMID:28600779 PMID:28709720 PMID:28714951 PMID:28832565 PMID:29525178 PMID:29605155 PMID:30054184 PMID:30128655 PMID:30224357 PMID:30581417 PMID:31130284 PMID:31182772 PMID:31405128 PMID:32214227 PMID:32397312 PMID:32579787 PMID:33409823 PMID:33589474 PMID:33770234 PMID:34011629 PMID:34670123 More...
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NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112
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MPP4 |
MAGUK p55 scaffold protein 4 |
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IAGP |
ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis |
ClinVar |
PMID:11586298 PMID:22152675 PMID:24315819 PMID:28492532 |
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NCBI chr 2:201,644,874...201,698,644
Ensembl chr 2:201,644,870...201,698,694
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TMEM237 |
transmembrane protein 237 |
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IAGP |
ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis |
ClinVar |
PMID:11586298 PMID:22152675 PMID:24315819 PMID:28492532 |
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NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570
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ATL1 |
atlastin GTPase 1 |
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IAGP |
ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant |
ClinVar |
PMID:28492532 |
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NCBI chr14:50,533,082...50,633,068
Ensembl chr14:50,532,509...50,634,017
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ERLIN2 |
ER lipid raft associated 2 |
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IAGP |
ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant |
ClinVar |
PMID:25741868 |
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NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422
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HSPD1 |
heat shock protein family D (Hsp60) member 1 |
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IAGP |
ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant |
ClinVar |
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NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737
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KIF5A |
kinesin family member 5A |
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ISO IAGP EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 10 ClinVar Annotator: match by term: Hereditary spastic paraplegia 10 | ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant ClinVar Annotator: match by term: Hereditary spastic paraplegia 10 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.R280C (human) DNA:missense mutation:cds:p.L259Q (human) DNA:missense mutation, nonsense mutation:cds:p.L249V, p.R864* (human) DNA:missense mutation:cds:p.R162W (human) DNA:missense mutation:cds:p.N256S (human) DNA:missense mutation, deletion, snp:cds:p.K253N, p.N256del c.217G>A (human) |
OMIM ClinVar CTD RGD |
PMID:9536098 PMID:12355402 PMID:15452312 PMID:16476820 PMID:16489470 PMID:17576681 PMID:18203753 PMID:18500496 PMID:18853458 PMID:21623771 PMID:22552817 PMID:22714410 PMID:24123792 PMID:24731568 PMID:25008398 PMID:25352184 PMID:25695920 PMID:25741868 PMID:26374131 PMID:26467025 PMID:26543653 PMID:27084214 PMID:28362824 PMID:28492532 PMID:28678816 PMID:28708278 PMID:28832565 PMID:29566793 PMID:29892902 PMID:29908077 PMID:30057544 PMID:30778698 PMID:31211173 PMID:31403080 PMID:31422367 PMID:31475037 PMID:33059505 PMID:33310205 PMID:34715294 PMID:35578252 PMID:37524782 PMID:22466687 PMID:15452312 PMID:24939576 PMID:26374131 PMID:25352184 PMID:12355402 PMID:18245137 More...
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RGD:12793060, RGD:12859091, RGD:12859090, RGD:12793069, RGD:12793068, RGD:12793065, RGD:12793061 |
NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633
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LOC129935358 |
ATAC-STARR-seq lymphoblastoid silent region 12213 |
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IAGP |
ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant |
ClinVar |
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LOC130008141 |
ATAC-STARR-seq lymphoblastoid silent region 4584 |
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IAGP |
ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant |
ClinVar |
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NCBI chr12:57,549,771...57,550,110
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LOC130056709 |
ATAC-STARR-seq lymphoblastoid silent region 6259 |
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IAGP |
ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant |
ClinVar |
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NCBI chr15:22,786,512...22,786,871
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NIPA1 |
NIPA magnesium transporter 1 |
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IAGP |
ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant |
ClinVar |
PMID:28492532 |
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NCBI chr15:22,786,225...22,829,789
Ensembl chr15:22,773,063...22,829,789
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REEP1 |
receptor accessory protein 1 |
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IAGP |
ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant |
ClinVar |
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NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083
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RTN2 |
reticulon 2 |
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IAGP |
ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr19:45,485,294...45,497,047
Ensembl chr19:45,485,294...45,497,055
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SLC33A1 |
solute carrier family 33 member 1 |
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IAGP |
ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant |
ClinVar |
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NCBI chr 3:155,821,024...155,854,427
Ensembl chr 3:155,821,024...155,854,456
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SPAST |
spastin |
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IAGP |
ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant |
ClinVar |
PMID:26467025 PMID:28492532 |
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NCBI chr 2:32,063,556...32,157,637
Ensembl chr 2:32,063,556...32,157,637
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WASHC5 |
WASH complex subunit 5 |
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IAGP |
ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant |
ClinVar |
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NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819
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ZFYVE27 |
zinc finger FYVE-type containing 27 |
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IAGP |
ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant |
ClinVar |
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NCBI chr10:97,737,128...97,760,895
Ensembl chr10:97,737,121...97,760,907
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B2M |
beta-2-microglobulin |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 |
ClinVar |
PMID:28492532 |
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NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851
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CHAT |
choline O-acetyltransferase |
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IAGP |
ClinVar Annotator: match by term: Gait disturbance |
ClinVar |
PMID:25741868 |
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NCBI chr10:49,609,095...49,667,942
Ensembl chr10:49,609,095...49,667,942
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EIF3J |
eukaryotic translation initiation factor 3 subunit J |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 |
ClinVar |
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NCBI chr15:44,537,147...44,562,803
Ensembl chr15:44,537,125...44,563,029
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GCH1 |
GTP cyclohydrolase 1 |
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IAGP |
ClinVar Annotator: match by term: Gait disturbance |
ClinVar |
PMID:25741868 |
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NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826
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LOC130056971 |
ATAC-STARR-seq lymphoblastoid silent region 6398 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 |
ClinVar |
PMID:18067136 PMID:19105190 PMID:20110243 PMID:20301389 PMID:21625935 PMID:22154821 PMID:25741868 PMID:25769290 PMID:26556829 PMID:27180005 PMID:28492532 More...
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NCBI chr15:44,584,395...44,584,444
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LOC130056972 |
ATAC-STARR-seq lymphoblastoid active region 9340 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 |
ClinVar |
PMID:28492532 |
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NCBI chr15:44,593,079...44,593,178
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LOC130056973 |
ATAC-STARR-seq lymphoblastoid active region 9341 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 |
ClinVar |
PMID:18079167 PMID:18361476 PMID:18586399 PMID:19105190 PMID:20110243 PMID:20301389 PMID:22154821 PMID:24482476 PMID:24833714 PMID:25741868 PMID:26374131 PMID:26467025 PMID:26556829 PMID:28492532 PMID:29482223 PMID:32214227 More...
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NCBI chr15:44,596,199...44,596,348
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LOC130056974 |
ATAC-STARR-seq lymphoblastoid active region 9342 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 |
ClinVar |
PMID:28492532 |
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NCBI chr15:44,662,757...44,662,896
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PATL2 |
PAT1 homolog 2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 |
ClinVar |
PMID:19105190 PMID:20110243 PMID:22154821 PMID:26556829 PMID:28492532 |
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NCBI chr15:44,665,732...44,711,390
Ensembl chr15:44,665,732...44,711,323
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SCN1A |
sodium voltage-gated channel alpha subunit 1 |
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IAGP |
ClinVar Annotator: match by term: Gait disturbance |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214
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SPG11 |
SPG11 vesicle trafficking associated, spatacsin |
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IAGP ISS EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive 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 OMIM:604360 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM |
PMID:2223744 PMID:2795747 PMID:3283541 PMID:9536098 PMID:16199547 PMID:16773502 PMID:17322883 PMID:17576681 PMID:17717710 PMID:18067136 PMID:18079167 PMID:18332254 PMID:18337587 PMID:18361476 PMID:18408091 PMID:18414213 PMID:18439221 PMID:18586399 PMID:18663179 PMID:18717728 PMID:18835492 PMID:19087158 PMID:19105190 PMID:19194956 PMID:19196735 PMID:19438933 PMID:19466474 PMID:19513778 PMID:19763152 PMID:19917823 PMID:20110243 PMID:20301389 PMID:20307669 PMID:20390432 PMID:20571989 PMID:20971220 PMID:21035867 PMID:21381113 PMID:21625935 PMID:21896784 PMID:22154821 PMID:22175763 PMID:22237444 PMID:22246010 PMID:22406018 PMID:22696581 PMID:22700954 PMID:23043354 PMID:23121729 PMID:23221952 PMID:23438842 PMID:23443022 PMID:23733235 PMID:23812641 PMID:23881933 PMID:24033266 PMID:24090761 PMID:24451228 PMID:24482476 PMID:24731568 PMID:24833714 PMID:25059394 PMID:25174650 PMID:25299611 PMID:25326635 PMID:25525159 PMID:25588603 PMID:25640679 PMID:25741868 PMID:25741905 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: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:30778698 PMID:31289639 PMID:31407473 PMID:31475037 PMID:31589614 PMID:31692161 PMID:31900114 PMID:32005694 PMID:32007496 PMID:32007754 PMID:32166880 PMID:32214227 PMID:32293029 PMID:32383541 PMID:32397312 PMID:32409511 PMID:32483926 PMID:32579787 PMID:32638105 PMID:32671691 PMID:32729724 PMID:32860008 PMID:32961396 PMID:32987860 PMID:32989326 PMID:33059505 PMID:33084218 PMID:33098801 PMID:33144682 PMID:33397523 PMID:33414559 PMID:33430805 PMID:33589474 PMID:33624863 PMID:33638609 PMID:33669240 PMID:34153142 PMID:34284285 PMID:34782662 PMID:34906502 PMID:35047667 PMID:35066644 PMID:35254204 PMID:35326432 PMID:35464835 PMID:35752680 PMID:35896380 PMID:36028943 PMID:36139378 More...
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NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688
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TBR1 |
T-box brain transcription factor 1 |
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IAGP |
ClinVar Annotator: match by term: Gait disturbance |
ClinVar |
PMID:25741868 |
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NCBI chr 2:161,416,297...161,425,870
Ensembl chr 2:161,416,297...161,425,870
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TRIM69 |
tripartite motif containing 69 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 |
ClinVar |
PMID:28492532 |
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NCBI chr15:44,736,528...44,767,827
Ensembl chr15:44,728,988...44,767,829
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RTN2 |
reticulon 2 |
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IAGP EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 12 ClinVar Annotator: match by term: Hereditary spastic paraplegia 12 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:10677333 PMID:12427890 PMID:22232211 PMID:24123792 PMID:25741868 PMID:26467025 PMID:27165006 PMID:28492532 More...
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NCBI chr19:45,485,294...45,497,047
Ensembl chr19:45,485,294...45,497,055
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HSPD1 |
heat shock protein family D (Hsp60) member 1 |
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ISO IAGP ISS EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 13 OMIM:605280 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:10677329 PMID:12483302 PMID:17420924 PMID:18414213 PMID:18571143 PMID:22552817 PMID:24033266 PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:23466696 More...
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RGD:10402832 |
NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737
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LOC129935358 |
ATAC-STARR-seq lymphoblastoid silent region 12213 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 13 |
ClinVar |
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ZFYVE26 |
zinc finger FYVE-type containing 26 |
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IAGP ISS EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 15 ClinVar Annotator: match by term: Hereditary spastic paraplegia 15 | ClinVar Annotator: match by term: Recessive spastic paraplegia with retinal degeneration OMIM:270700 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE |
ClinVar MouseDO CTD OMIM |
PMID:6944241 PMID:9536098 PMID:11342696 PMID:16199547 PMID:17576681 PMID:17661097 PMID:18098276 PMID:18394578 PMID:19805727 PMID:19917823 PMID:23733235 PMID:24088041 PMID:24833714 PMID:25133958 PMID:25497598 PMID:25525159 PMID:25741868 PMID:26467025 PMID:26492578 PMID:26633545 PMID:27217339 PMID:27544497 PMID:28492532 PMID:28832565 PMID:29246610 PMID:29858556 PMID:30555096 PMID:31108397 More...
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NCBI chr14:67,728,892...67,816,590
Ensembl chr14:67,727,374...67,816,590
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BSCL2 |
BSCL2 lipid droplet biogenesis associated, seipin |
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IAGP EXP |
ClinVar Annotator: match by term: Autosomal dominant spastic paraplegia type 17 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 17 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1674639 PMID:5964029 PMID:11479539 PMID:14981520 PMID:15126564 PMID:15732094 PMID:16427281 PMID:16574104 PMID:17387721 PMID:17486577 PMID:18585921 PMID:18790819 PMID:19396477 PMID:20598714 PMID:20806400 PMID:21750110 PMID:21957196 PMID:22045697 PMID:22474068 PMID:23142943 PMID:23553728 PMID:24345054 PMID:24451228 PMID:24604904 PMID:25219579 PMID:25454168 PMID:25487175 PMID:25741868 PMID:25832430 PMID:26467025 PMID:26815532 PMID:26989944 PMID:27027447 PMID:27549087 PMID:27738760 PMID:27862672 PMID:28362824 PMID:28492532 PMID:31372974 PMID:31475473 PMID:32320108 More...
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NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845
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HNRNPUL2-BSCL2 |
HNRNPUL2-BSCL2 readthrough (NMD candidate) |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 17 ClinVar Annotator: match by term: Autosomal dominant spastic paraplegia type 17 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 17 |
ClinVar |
PMID:1674639 PMID:5964029 PMID:11479539 PMID:14981520 PMID:15126564 PMID:15732094 PMID:16427281 PMID:16574104 PMID:17387721 PMID:17486577 PMID:18585921 PMID:18790819 PMID:19396477 PMID:20598714 PMID:20806400 PMID:21750110 PMID:21957196 PMID:22045697 PMID:22474068 PMID:23142943 PMID:23553728 PMID:24345054 PMID:24451228 PMID:24604904 PMID:25219579 PMID:25454168 PMID:25487175 PMID:25741868 PMID:25832430 PMID:26467025 PMID:26815532 PMID:26989944 PMID:27027447 PMID:27549087 PMID:27738760 PMID:27862672 PMID:28362824 PMID:28492532 PMID:31372974 PMID:31475473 PMID:32320108 More...
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NCBI chr11:62,690,262...62,727,384
Ensembl chr11:62,690,275...62,727,384
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SON |
SON DNA and RNA binding protein |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 17 |
ClinVar |
PMID:25590979 PMID:25741868 PMID:25741875 PMID:27256762 PMID:27545676 PMID:27545680 PMID:28492532 PMID:34521999 More...
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NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481
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ERLIN2 |
ER lipid raft associated 2 |
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IAGP EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 18 ClinVar Annotator: match by term: Spastic paraplegia 18a, autosomal dominant CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:21330303 PMID:23109145 PMID:25741868 PMID:28492532 PMID:29528531 PMID:32094424 More...
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NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422
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MORF4L2 |
mortality factor 4 like 2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 |
ClinVar |
PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 PMID:28492532 More...
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NCBI chr X:103,675,498...103,688,047
Ensembl chr X:103,675,496...103,688,158
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PLP1 |
proteolipid protein 1 |
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IAGP ISS EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 2, X-LINKED OMIM:312920 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Spastic paraplegia 2 |
OMIM ClinVar MouseDO CTD |
PMID:1384324 PMID:1720927 PMID:2479017 PMID:2480601 PMID:2773936 PMID:3827224 PMID:7522741 PMID:7531827 PMID:7539212 PMID:7539213 PMID:7679906 PMID:8012387 PMID:8320699 PMID:8659540 PMID:8723686 PMID:8786077 PMID:8956049 PMID:9056547 PMID:9106132 PMID:9247276 PMID:9427151 PMID:9489796 PMID:9536098 PMID:9633722 PMID:9634530 PMID:9934976 PMID:10319885 PMID:10319897 PMID:10401787 PMID:10417279 PMID:11093273 PMID:12601703 PMID:12910435 PMID:14452137 PMID:14745569 PMID:15450775 PMID:15712223 PMID:16199547 PMID:16287154 PMID:16380909 PMID:16844304 PMID:17438221 PMID:17576681 PMID:17962415 PMID:18160035 PMID:18414213 PMID:18470932 PMID:19328639 PMID:19825935 PMID:19955111 PMID:20022439 PMID:21679407 PMID:22016529 PMID:22101368 PMID:22343157 PMID:22695888 PMID:23344956 PMID:23347225 PMID:23771846 PMID:24088041 PMID:24139698 PMID:24519770 PMID:24890387 PMID:24936452 PMID:25741868 PMID:25741916 PMID:26125040 PMID:26467025 PMID:26633545 PMID:26786043 PMID:26795593 PMID:27535533 PMID:28366443 PMID:28492532 PMID:29451896 PMID:30337681 PMID:31448840 PMID:33504798 PMID:34782662 PMID:35012964 More...
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NCBI chr X:103,776,506...103,792,619
Ensembl chr X:103,773,718...103,792,619
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RAB9B |
RAB9B, member RAS oncogene family |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 2, X-LINKED ClinVar Annotator: match by term: Spastic paraplegia 2 |
ClinVar |
PMID:1384324 PMID:2479017 PMID:2480601 PMID:2773936 PMID:3827224 PMID:7522741 PMID:7531827 PMID:7539212 PMID:7679906 PMID:8012387 PMID:8320699 PMID:8723686 PMID:8786077 PMID:8956049 PMID:9056547 PMID:9106132 PMID:9247276 PMID:9427151 PMID:9489796 PMID:9536098 PMID:9634530 PMID:9934976 PMID:10319897 PMID:10401787 PMID:10417279 PMID:11093273 PMID:12601703 PMID:12910435 PMID:14452137 PMID:14745569 PMID:15450775 PMID:15712223 PMID:16199547 PMID:16287154 PMID:16380909 PMID:16844304 PMID:17438221 PMID:17576681 PMID:17962415 PMID:18160035 PMID:18414213 PMID:18470932 PMID:19328639 PMID:19825935 PMID:19955111 PMID:20022439 PMID:21679407 PMID:22016529 PMID:22101368 PMID:22343157 PMID:22695888 PMID:23344956 PMID:23347225 PMID:23771846 PMID:24088041 PMID:24139698 PMID:24519770 PMID:24890387 PMID:24936452 PMID:25741868 PMID:25741916 PMID:26125040 PMID:26467025 PMID:26633545 PMID:26786043 PMID:26795593 PMID:27535533 PMID:28366443 PMID:28492532 PMID:29451896 PMID:30337681 PMID:33504798 PMID:34782662 PMID:35012964 More...
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NCBI chr X:103,776,324...103,832,257
Ensembl chr X:103,822,327...103,832,257
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SPAST |
spastin |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:32,063,556...32,157,637
Ensembl chr 2:32,063,556...32,157,637
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TCEAL1 |
transcription elongation factor A like 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 |
ClinVar |
PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 PMID:28492532 More...
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NCBI chr X:103,628,716...103,630,953
Ensembl chr X:103,628,704...103,630,953
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TCEAL3 |
transcription elongation factor A like 3 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 |
ClinVar |
PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 PMID:28492532 More...
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NCBI chr X:103,607,963...103,609,927
Ensembl chr X:103,607,451...103,629,690
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TCEAL4 |
transcription elongation factor A like 4 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 |
ClinVar |
PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 PMID:28492532 More...
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NCBI chr X:103,576,231...103,587,729
Ensembl chr X:103,576,231...103,587,729
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TMEM31 |
transmembrane protein 31 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 |
ClinVar |
PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 PMID:28492532 More...
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NCBI chr X:103,710,909...103,714,032
Ensembl chr X:103,710,909...103,714,032
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TMSB15B |
thymosin beta 15B |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 |
ClinVar |
PMID:9634530 PMID:10417279 PMID:16380909 PMID:18160035 PMID:19328639 PMID:28492532 More...
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NCBI chr X:103,919,155...103,974,426
Ensembl chr X:103,918,896...103,966,712 Ensembl chr X:103,918,896...103,966,712
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DSTYK |
dual serine/threonine and tyrosine protein kinase |
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IAGP EXP |
ClinVar Annotator: match by term: DSTYK-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 23 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:17273976 PMID:23862974 PMID:25741868 PMID:27657687 PMID:28492532 PMID:28566479 PMID:33624863 More...
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NCBI chr 1:205,142,505...205,211,702
Ensembl chr 1:205,142,505...205,211,702
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B4GALNT1 |
beta-1,4-N-acetyl-galactosaminyltransferase 1 |
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IAGP EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 26 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23746551 PMID:25741868 PMID:28492532 PMID:28709807 PMID:29983310 PMID:30521973 PMID:31812852 PMID:32214227 More...
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NCBI chr12:57,623,409...57,633,201
Ensembl chr12:57,623,409...57,633,239
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BMP4 |
bone morphogenetic protein 4 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 28 |
ClinVar |
PMID:28492532 |
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NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
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DDHD1 |
DDHD domain containing 1 |
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IAGP EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 28 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:9536098 PMID:15786464 PMID:17576681 PMID:23176821 PMID:24989667 PMID:25741868 PMID:26944165 PMID:27216551 PMID:27999540 PMID:28492532 PMID:28818478 More...
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NCBI chr14:53,036,755...53,153,323
Ensembl chr14:53,036,745...53,153,323
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LOC130055658 |
ATAC-STARR-seq lymphoblastoid active region 8401 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 28 |
ClinVar |
PMID:28492532 |
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NCBI chr14:53,152,149...53,152,348
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AGXT |
alanine--glyoxylate aminotransferase |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:240,868,824...240,880,500
Ensembl chr 2:240,868,824...240,880,502
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ANKMY1 |
ankyrin repeat and MYND domain containing 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:240,468,632...240,561,064
Ensembl chr 2:240,479,422...240,569,209
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ANO7 |
anoctamin 7 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:241,188,677...241,240,308
Ensembl chr 2:241,188,509...241,225,976
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AQP12A |
aquaporin 12A |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:240,691,866...240,698,483
Ensembl chr 2:240,691,866...240,698,483
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AQP12B |
aquaporin 12B |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:240,676,418...240,683,810
Ensembl chr 2:240,676,418...240,682,906
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ASB1 |
ankyrin repeat and SOCS box containing 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:238,426,927...238,452,250
Ensembl chr 2:238,426,742...238,452,250
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ATG4B |
autophagy related 4B cysteine peptidase |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:241,637,693...241,673,857
Ensembl chr 2:241,637,213...241,673,857
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BOK |
BCL2 family apoptosis regulator BOK |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:241,551,393...241,574,131
Ensembl chr 2:241,551,424...241,574,131
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CAPN10 |
calpain 10 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:240,586,734...240,599,104
Ensembl chr 2:240,586,734...240,617,705
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COL6A3 |
collagen type VI alpha 3 chain |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328
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COPS9 |
COP9 signalosome subunit 9 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:240,126,548...240,136,347
Ensembl chr 2:240,126,563...240,136,807
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D2HGDH |
D-2-hydroxyglutarate dehydrogenase |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:241,734,630...241,768,811
Ensembl chr 2:241,734,602...241,768,816
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DTYMK |
deoxythymidylate kinase |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:241,675,747...241,686,815
Ensembl chr 2:241,675,747...241,686,944
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DUSP28 |
dual specificity phosphatase 28 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:240,560,054...240,565,256
Ensembl chr 2:240,560,054...240,565,256
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ERFE |
erythroferrone |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:238,158,970...238,168,890
Ensembl chr 2:238,158,970...238,168,900
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ESPNL |
espin like |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:238,100,340...238,133,287
Ensembl chr 2:238,100,340...238,133,287
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FARP2 |
FERM, ARH/RhoGEF and pleckstrin domain protein 2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:241,356,285...241,494,841
Ensembl chr 2:241,356,285...241,494,841
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GAL3ST2 |
galactose-3-O-sulfotransferase 2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:241,776,822...241,804,287
Ensembl chr 2:241,776,822...241,804,287
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GPC1 |
glypican 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:240,435,663...240,468,076
Ensembl chr 2:240,435,663...240,468,076
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GPR35 |
G protein-coupled receptor 35 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:240,605,430...240,633,159
Ensembl chr 2:240,605,430...240,633,159
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HDAC4 |
histone deacetylase 4 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654
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HDLBP |
high density lipoprotein binding protein |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:241,227,291...241,315,672
Ensembl chr 2:241,227,264...241,317,061
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HES6 |
hes family bHLH transcription factor 6 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:238,238,267...238,240,038
Ensembl chr 2:238,238,267...238,240,662
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ILKAP |
ILK associated serine/threonine phosphatase |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:238,170,402...238,203,695
Ensembl chr 2:238,170,402...238,203,708
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ING5 |
inhibitor of growth family member 5 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:241,687,020...241,729,478
Ensembl chr 2:241,687,085...241,729,478
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G |
KIF1A |
kinesin family member 1A |
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IAGP ISS EXP |
DNA:missense mutations: :p.A255V, p.R350G (human) ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive OMIM:610357 CTD Direct Evidence: marker/mechanism DNA:missense mutation: :p.A255V (human) |
ClinVar MouseDO CTD OMIM RGD |
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:25533962 PMID:25585697 PMID:25640679 PMID:25741868 PMID:26077850 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:28106320 PMID:28333917 PMID:28362824 PMID:28492532 PMID:28554332 PMID:28708303 PMID:28832565 PMID:28834584 PMID:28970574 PMID:29159194 PMID:29590070 PMID:29691679 PMID:29915382 PMID:29934652 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:31785789 PMID:31796088 PMID:31805580 PMID:31813911 PMID:32096284 PMID:32746806 PMID:32860008 PMID:32935419 PMID:33717719 PMID:33753861 PMID:33880452 PMID:34234304 PMID:34354735 PMID:34356170 PMID:34487232 PMID:34782662 PMID:35132656 PMID:36284339 PMID:22258533 PMID:21487076 More...
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RGD:12911224, RGD:12911228 |
NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293
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G |
KLHL30 |
kelch like family member 30 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:238,138,668...238,152,947
Ensembl chr 2:238,138,668...238,152,947
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G |
LOC126806583 |
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:241678910-241680109 |
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IAGP |
ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive |
ClinVar |
PMID:9536098 PMID:17576681 PMID:21820098 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr 2:240,739,493...240,740,692
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G |
LRRFIP1 |
LRR binding FLII interacting protein 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:237,627,587...237,781,643
Ensembl chr 2:237,627,587...237,813,682
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G |
MAB21L4 |
mab-21 like 4 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:240,886,048...240,896,839
Ensembl chr 2:240,886,048...240,896,889
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G |
MIR149 |
microRNA 149 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:240,456,001...240,456,089
Ensembl chr 2:240,456,001...240,456,089
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G |
MLPH |
melanophilin |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:237,486,410...237,555,322
Ensembl chr 2:237,485,428...237,555,322
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G |
MTERF4 |
mitochondrial transcription termination factor 4 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:241,042,586...241,102,287
Ensembl chr 2:241,072,169...241,102,332
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G |
NDUFA10 |
NADH:ubiquinone oxidoreductase subunit A10 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:239,892,442...240,025,342
Ensembl chr 2:239,892,450...240,025,743
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G |
NEU4 |
neuraminidase 4 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:241,809,193...241,817,413
Ensembl chr 2:241,809,065...241,817,413
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G |
OR6B2 |
olfactory receptor family 6 subfamily B member 2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:240,029,491...240,030,429
Ensembl chr 2:240,029,491...240,030,429
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G |
OR6B3 |
olfactory receptor family 6 subfamily B member 3 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:240,044,571...240,053,521
Ensembl chr 2:240,044,571...240,053,521
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G |
OTOS |
otospiralin |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:240,139,026...240,140,658
Ensembl chr 2:240,139,026...240,144,562
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G |
PASK |
PAS domain containing serine/threonine kinase |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:241,106,099...241,150,347
Ensembl chr 2:241,106,099...241,150,264
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G |
PDCD1 |
programmed cell death 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
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G |
PER2 |
period circadian regulator 2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:238,244,044...238,300,065
Ensembl chr 2:238,244,044...238,290,102
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G |
PPP1R7 |
protein phosphatase 1 regulatory subunit 7 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:241,149,573...241,183,652
Ensembl chr 2:241,149,576...241,183,652
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G |
PRLH |
prolactin releasing hormone |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:237,566,574...237,567,175
Ensembl chr 2:237,566,574...237,567,175
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G |
PRR21 |
proline rich 21 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:240,041,813...240,042,982
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G |
RAB17 |
RAB17, member RAS oncogene family |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:237,574,326...237,590,734
Ensembl chr 2:237,574,322...237,601,614
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G |
RAMP1 |
receptor activity modifying protein 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:237,858,880...237,912,106
Ensembl chr 2:237,858,893...237,912,106
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G |
RBM44 |
RNA binding motif protein 44 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:237,798,779...237,842,805
Ensembl chr 2:237,798,389...237,842,808
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G |
RNPEPL1 |
arginyl aminopeptidase like 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:240,568,484...240,581,372
Ensembl chr 2:240,565,804...240,581,372
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G |
SCLY |
selenocysteine lyase |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:238,061,001...238,099,413
Ensembl chr 2:238,060,924...238,099,413
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G |
SEPTIN2 |
septin 2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:241,315,355...241,354,027
Ensembl chr 2:241,315,100...241,354,027
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G |
SNED1 |
sushi, nidogen and EGF like domains 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:240,997,650...241,095,568
Ensembl chr 2:240,998,618...241,095,568
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G |
STK25 |
serine/threonine kinase 25 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:241,492,670...241,509,572
Ensembl chr 2:241,492,670...241,509,730
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G |
THAP4 |
THAP domain containing 4 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:241,584,405...241,637,576
Ensembl chr 2:241,584,405...241,637,158
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G |
TRAF3IP1 |
TRAF3 interacting protein 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:238,320,518...238,400,900
Ensembl chr 2:238,320,441...238,400,897
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G |
TWIST2 |
twist family bHLH transcription factor 2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:238,848,085...238,910,534
Ensembl chr 2:238,848,032...238,910,534
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G |
UBE2F |
ubiquitin conjugating enzyme E2 F (putative) |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 |
ClinVar |
PMID:16081310 PMID:20020533 PMID:20691407 PMID:21384162 PMID:21820098 PMID:24715439 PMID:28492532 PMID:30848064 PMID:31488895 More...
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NCBI chr 2:237,967,014...238,042,782
Ensembl chr 2:237,966,827...238,042,782
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G |
ATOH8 |
atonal bHLH transcription factor 8 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 |
ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chr 2:85,753,991...85,791,383
Ensembl chr 2:85,751,344...85,791,383
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G |
C2orf68 |
chromosome 2 open reading frame 68 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 |
ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chr 2:85,605,254...85,612,066
Ensembl chr 2:85,605,254...85,612,066
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G |
GGCX |
gamma-glutamyl carboxylase |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 |
ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chr 2:85,544,720...85,561,493
Ensembl chr 2:85,544,720...85,561,532
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G |
GNLY |
granulysin |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 |
ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chr 2:85,694,358...85,698,852
Ensembl chr 2:85,685,175...85,698,852
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G |
IMMT |
inner membrane mitochondrial protein |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 |
ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chr 2:86,143,936...86,195,462
Ensembl chr 2:86,143,932...86,195,472
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G |
LOC112841602 |
Sharpr-MPRA regulatory region 10968 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 |
ClinVar |
PMID:18321925 PMID:28492532 |
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NCBI chr 2:86,218,166...86,218,460
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G |
LOC122787147 |
Sharpr-MPRA regulatory region 10790 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 |
ClinVar |
PMID:18321925 PMID:28492532 |
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NCBI chr 2:86,235,466...86,235,760
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G |
LOC129934249 |
ATAC-STARR-seq lymphoblastoid silent region 11711 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 |
ClinVar |
PMID:18321925 PMID:28492532 |
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G |
MAT2A |
methionine adenosyltransferase 2A |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 |
ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chr 2:85,539,168...85,545,281
Ensembl chr 2:85,539,168...85,545,281
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G |
MRPL35 |
mitochondrial ribosomal protein L35 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 |
ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chr 2:86,199,433...86,213,794
Ensembl chr 2:86,199,355...86,213,790
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G |
POLR1A |
RNA polymerase I subunit A |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 |
ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155
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G |
PTCD3 |
pentatricopeptide repeat domain 3 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 |
ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chr 2:86,106,235...86,142,157
Ensembl chr 2:86,106,223...86,142,157
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G |
REEP1 |
receptor accessory protein 1 |
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IAGP ISS EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 | ClinVar Annotator: match by term: Spastic paraplegia 31, autosomal dominant OMIM:610250 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:16199547 PMID:16826527 PMID:17576681 PMID:18321925 PMID:18644145 PMID:19034539 PMID:19072839 PMID:20718791 PMID:21618648 PMID:22062632 PMID:22703882 PMID:23108492 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:30637453 PMID:31872057 PMID:32501971 PMID:32581362 PMID:32655478 More...
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NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083
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G |
RNF181 |
ring finger protein 181 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 |
ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chr 2:85,595,745...85,597,708
Ensembl chr 2:85,595,725...85,597,708
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G |
SFTPB |
surfactant protein B |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 |
ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
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G |
ST3GAL5 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 5 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 |
ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chr 2:85,837,120...85,889,034
Ensembl chr 2:85,837,120...85,905,199
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G |
TMEM150A |
transmembrane protein 150A |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 |
ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chr 2:85,598,547...85,602,698
Ensembl chr 2:85,598,547...85,603,196
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G |
USP39 |
ubiquitin specific peptidase 39 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 |
ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chr 2:85,602,861...85,649,283
Ensembl chr 2:85,602,856...85,649,283
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G |
VAMP5 |
vesicle associated membrane protein 5 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 |
ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chr 2:85,584,431...85,593,406
Ensembl chr 2:85,584,431...85,593,406
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G |
VAMP8 |
vesicle associated membrane protein 8 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 |
ClinVar |
PMID:18321925 PMID:18644145 PMID:22062632 PMID:22703882 PMID:24986827 PMID:28492532 More...
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NCBI chr 2:85,577,586...85,582,031
Ensembl chr 2:85,561,562...85,582,031
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G |
AP4M1 |
adaptor related protein complex 4 subunit mu 1 |
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IAGP |
ClinVar Annotator: match by term: Spastic tetraparesis |
ClinVar |
PMID:28492532 |
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NCBI chr 7:100,100,794...100,109,039
Ensembl chr 7:100,100,898...100,110,345
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G |
ATP13A2 |
ATPase cation transporting 13A2 |
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IAGP |
ClinVar Annotator: match by term: Spastic tetraparesis |
ClinVar |
PMID:25741868 |
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NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928
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G |
LOC130004486 |
ATAC-STARR-seq lymphoblastoid silent region 2687 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 33 |
ClinVar |
PMID:25741868 |
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NCBI chr10:97,759,518...97,759,567
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G |
SPG7 |
SPG7 matrix AAA peptidase subunit, paraplegin |
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IAGP |
ClinVar Annotator: match by term: Spastic tetraparesis |
ClinVar |
PMID:25741868 |
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NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766
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G |
ZFYVE27 |
zinc finger FYVE-type containing 27 |
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IAGP EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 33 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Spastic tetraparesis |
OMIM ClinVar CTD |
PMID:16826525 PMID:18606302 PMID:24668814 PMID:25741868 PMID:28492532 PMID:30564185 More...
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NCBI chr10:97,737,128...97,760,895
Ensembl chr10:97,737,121...97,760,907
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G |
FA2H |
fatty acid 2-hydroxylase |
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IAGP ISS EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 35 OMIM:612319 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19068277 PMID:20104589 PMID:20853438 PMID:22146942 PMID:22965561 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:27957547 PMID:28017243 PMID:28492532 PMID:29423566 PMID:30446360 PMID:30532373 PMID:30713878 PMID:31130284 PMID:31135052 PMID:31407473 PMID:31429931 PMID:31690835 PMID:32624042 PMID:32907636 PMID:33083013 PMID:33144682 PMID:33246395 PMID:34445196 PMID:34852264 PMID:35578252 PMID:35872528 More...
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NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831
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G |
LOC130059393 |
ATAC-STARR-seq lymphoblastoid silent region 7700 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 35 |
ClinVar |
PMID:31690835 |
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NCBI chr16:74,774,457...74,774,506
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G |
LOC130059394 |
ATAC-STARR-seq lymphoblastoid silent region 7701 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 35 |
ClinVar |
PMID:19068277 PMID:20104589 PMID:25741868 PMID:28492532 PMID:30446360 PMID:30532373 PMID:31130284 PMID:31135052 PMID:31690835 PMID:32624042 PMID:33246395 More...
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NCBI chr16:74,774,547...74,774,916
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G |
LOC130059395 |
ATAC-STARR-seq lymphoblastoid silent region 7702 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 35 |
ClinVar |
PMID:31690835 |
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NCBI chr16:74,774,927...74,775,056
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G |
LOC130059396 |
ATAC-STARR-seq lymphoblastoid silent region 7703 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 35 |
ClinVar |
PMID:31690835 |
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NCBI chr16:74,775,067...74,775,126
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G |
LOC132090400 |
Neanderthal introgressed variant-containing enhancer experimental_44395 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 35 |
ClinVar |
PMID:22146942 |
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NCBI chr16:74,720,593...74,720,762
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G |
ARHGEF18 |
Rho/Rac guanine nucleotide exchange factor 18 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 |
ClinVar |
PMID:28492532 |
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NCBI chr19:7,348,937...7,479,989
Ensembl chr19:7,348,937...7,472,485
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G |
LOC130063377 |
ATAC-STARR-seq lymphoblastoid active region 13887 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 |
ClinVar |
PMID:28492532 |
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NCBI chr19:7,535,552...7,535,791
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MCOLN1 |
mucolipin TRP cation channel 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr19:7,522,624...7,534,009
Ensembl chr19:7,522,624...7,534,009
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G |
PEX11G |
peroxisomal biogenesis factor 11 gamma |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 |
ClinVar |
PMID:28492532 |
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NCBI chr19:7,476,875...7,494,977
Ensembl chr19:7,476,875...7,497,449
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PNPLA6 |
patatin like phospholipase domain containing 6 |
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IAGP EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 | ClinVar Annotator: match by term: NTE related motor neuron disorder CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Spastic paraplegia 39 |
ClinVar CTD OMIM |
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:30097146 PMID:30555943 PMID:30564185 PMID:31048186 PMID:31135245 PMID:31712030 PMID:31780887 PMID:32579787 PMID:32586184 PMID:32623594 PMID:32758583 PMID:32870266 PMID:33141049 PMID:33210227 PMID:34103343 PMID:34234304 PMID:34426522 PMID:34445196 PMID:34816117 PMID:35069422 PMID:35198007 PMID:35872528 More...
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NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764
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G |
SAXO5 |
stabilizer of axonemal microtubules 5 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 |
ClinVar |
PMID:28492532 |
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NCBI chr19:7,497,548...7,508,450
Ensembl chr19:7,492,976...7,508,450
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G |
ZNF358 |
zinc finger protein 358 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 |
ClinVar |
PMID:28492532 |
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NCBI chr19:7,513,880...7,521,025
Ensembl chr19:7,515,292...7,521,025
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ATL1 |
atlastin GTPase 1 |
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IAGP EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
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: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:25741914 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:30780198 PMID:31227335 PMID:31236401 PMID:31589614 PMID:31594988 PMID:31630374 PMID:31920481 PMID:32322428 PMID:32488064 PMID:32581362 PMID:32860008 PMID:32989326 PMID:34546351 PMID:34715294 PMID:34782662 PMID:34808209 More...
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NCBI chr14:50,533,082...50,633,068
Ensembl chr14:50,532,509...50,634,017
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G |
BICD2 |
BICD cargo adaptor 2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A |
ClinVar |
PMID:11241493 PMID:21208200 PMID:23664120 PMID:28492532 |
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NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833
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G |
MAP4K5 |
mitogen-activated protein kinase kinase kinase kinase 5 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr14:50,418,521...50,561,126
Ensembl chr14:50,418,501...50,561,126
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G |
BIRC6 |
baculoviral IAP repeat containing 6 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 |
ClinVar |
PMID:25065914 PMID:25741868 |
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NCBI chr 2:32,357,023...32,618,878
Ensembl chr 2:32,357,023...32,619,571
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G |
COL3A1 |
collagen type III alpha 1 chain |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
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G |
DPY30 |
dpy-30 histone methyltransferase complex regulatory subunit |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 |
ClinVar |
PMID:25065914 PMID:28492532 |
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NCBI chr 2:32,011,649...32,039,835
Ensembl chr 2:31,867,809...32,039,805
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G |
FGG |
fibrinogen gamma chain |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:154,604,136...154,612,656
Ensembl chr 4:154,604,134...154,612,967
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GNAS |
GNAS complex locus |
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IAGP |
ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant |
ClinVar |
PMID:8388883 PMID:23281139 PMID:25741868 PMID:25802881 PMID:28492532 PMID:29072892 PMID:34008892 More...
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NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
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G |
LOC129388840 |
MPRA-validated peak3647 silencer |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 |
ClinVar |
PMID:25065914 |
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NCBI chr 2:32,189,087...32,189,287
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G |
LOC129933452 |
ATAC-STARR-seq lymphoblastoid active region 15555 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 |
ClinVar |
PMID:25065914 |
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G |
LOC129933453 |
ATAC-STARR-seq lymphoblastoid active region 15556 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 |
ClinVar |
PMID:25065914 |
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G |
LOC129933454 |
ATAC-STARR-seq lymphoblastoid active region 15557 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 |
ClinVar |
PMID:25065914 |
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G |
LOC129933455 |
ATAC-STARR-seq lymphoblastoid silent region 11339 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 |
ClinVar |
PMID:15637712 PMID:16199547 PMID:20932283 PMID:25065914 PMID:28492532 |
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G |
LOC129933456 |
ATAC-STARR-seq lymphoblastoid active region 15558 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 |
ClinVar |
PMID:25065914 |
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G |
LTBP1 |
latent transforming growth factor beta binding protein 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 |
ClinVar |
PMID:25065914 |
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NCBI chr 2:32,946,953...33,399,509
Ensembl chr 2:32,946,953...33,399,509
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G |
MEMO1 |
mediator of cell motility 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:31,867,823...32,011,008
Ensembl chr 2:31,865,060...32,011,230
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G |
NLRC4 |
NLR family CARD domain containing 4 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 |
ClinVar |
PMID:25065914 PMID:25741868 PMID:28492532 |
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NCBI chr 2:32,224,449...32,265,743
Ensembl chr 2:32,224,453...32,265,732
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G |
OFD1 |
OFD1 centriole and centriolar satellite protein |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 |
ClinVar |
PMID:9990351 PMID:10999831 PMID:25741868 |
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NCBI chr X:13,714,505...13,773,738
Ensembl chr X:13,734,743...13,777,955
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G |
PHF6 |
PHD finger protein 6 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 |
ClinVar |
PMID:12415272 PMID:15994862 PMID:25741868 PMID:25741869 PMID:28492532 |
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NCBI chr X:134,373,312...134,428,790
Ensembl chr X:134,373,288...134,428,791
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G |
SLC30A6 |
solute carrier family 30 member 6 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 |
ClinVar |
PMID:25065914 PMID:25741868 PMID:28492532 |
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NCBI chr 2:32,165,864...32,224,379
Ensembl chr 2:32,165,841...32,224,379
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G |
SLC30A6-DT |
SLC30A6 divergent transcript |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 |
ClinVar |
PMID:25065914 |
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NCBI chr 2:32,165,041...32,165,739
Ensembl chr 2:32,165,041...32,165,757
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G |
SPAST |
spastin |
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IAGP ISS EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 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, autosomal dominant ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 | ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant 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, autosomal dominant ClinVar Annotator: match by term: Spastic paraplegia 4, modifier of OMIM:182601 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM |
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:12471215 PMID:12552568 PMID:12736085 PMID:12939659 PMID:14732620 PMID:15095758 PMID:15159500 PMID:15210521 PMID:15248095 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:19763152 PMID:19875132 PMID:20214791 PMID:20301339 PMID:20307669 PMID:20430936 PMID:20491894 PMID:20550563 PMID:20559269 PMID:20562464 PMID:20665701 PMID:20718791 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: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:27077743 PMID:27084228 PMID:27108959 PMID:27260292 PMID:27276562 PMID:27334366 PMID:27688599 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:30375765 PMID:30476002 PMID:30489674 PMID:30520996 PMID:30528841 PMID:30564185 PMID:30747022 PMID:30778698 PMID:31134136 PMID:31157359 PMID:31227335 PMID:31407473 PMID:31594988 PMID:31630374 PMID:31692161 PMID:31751864 PMID:31851166 PMID:32092540 PMID:32522921 PMID:32650125 PMID:32655478 PMID:32908740 PMID:32989326 PMID:33084218 PMID:33098801 PMID:33179235 PMID:33446253 PMID:33480217 PMID:33624935 PMID:33638609 PMID:33770234 PMID:34008892 PMID:34114234 PMID:34353391 PMID:34445196 PMID:34507445 PMID:34531397 PMID:34715294 PMID:34753439 PMID:34983064 PMID:35020098 PMID:35082646 PMID:35303589 PMID:35896380 PMID:37453004 PMID:37563452 PMID:38272032 More...
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NCBI chr 2:32,063,556...32,157,637
Ensembl chr 2:32,063,556...32,157,637
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SRD5A2 |
steroid 5 alpha-reductase 2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:31,522,480...31,663,009
Ensembl chr 2:31,522,480...31,580,938
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TCF4 |
transcription factor 4 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 |
ClinVar |
PMID:25741868 |
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NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787
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TRAPPC2 |
trafficking protein particle complex subunit 2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 |
ClinVar |
PMID:9990351 PMID:10999831 PMID:25741868 |
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NCBI chr X:13,712,245...13,734,620
Ensembl chr X:13,712,244...13,734,635
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TTC27 |
tetratricopeptide repeat domain 27 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 |
ClinVar |
PMID:25065914 PMID:25741868 |
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NCBI chr 2:32,628,050...32,821,051
Ensembl chr 2:32,628,032...32,821,051
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XDH |
xanthine dehydrogenase |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:31,334,321...31,414,742
Ensembl chr 2:31,334,321...31,414,742
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YIPF4 |
Yip1 domain family member 4 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 |
ClinVar |
PMID:25065914 PMID:25741868 |
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NCBI chr 2:32,277,904...32,316,594
Ensembl chr 2:32,277,904...32,316,594
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SLC33A1 |
solute carrier family 33 member 1 |
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IAGP EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 42 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:19061983 PMID:24583203 PMID:25402622 PMID:25741868 PMID:26467025 PMID:28492532 PMID:35588347 More...
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NCBI chr 3:155,821,024...155,854,427
Ensembl chr 3:155,821,024...155,854,456
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C19orf12 |
chromosome 19 open reading frame 12 |
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IAGP EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 43 ClinVar Annotator: match by term: Spastic paraplegia 43, autosomal recessive CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
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:28347615 PMID:28492532 PMID:28641177 PMID:28832565 PMID:29915382 PMID:30088953 PMID:30369941 PMID:30392167 PMID:31087512 PMID:31105013 PMID:31804703 PMID:32552793 PMID:32581362 PMID:33607528 PMID:33688131 PMID:34272103 PMID:34284285 More...
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NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789
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LOC130064129 |
ATAC-STARR-seq lymphoblastoid silent region 10465 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 43 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:28492532 |
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NCBI chr19:29,714,796...29,715,585
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GJC2 |
gap junction protein gamma 2 |
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IAGP EXP |
DNA:missense mutation:cds:p.I33M (human) ClinVar Annotator: match by term: Hereditary spastic paraplegia 44 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:19056803 PMID:25741868 PMID:27057822 PMID:28492532 PMID:34055681 PMID:19056803 More...
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RGD:13208577 |
NCBI chr 1:228,149,930...228,159,826
Ensembl chr 1:228,149,930...228,159,826
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CNNM2 |
cyclin and CBS domain divalent metal cation transport mediator 2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 45 |
ClinVar |
PMID:24482476 PMID:25741868 PMID:28492532 |
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NCBI chr10:102,918,294...103,090,222
Ensembl chr10:102,918,294...103,090,222
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LOC130004629 |
ATAC-STARR-seq lymphoblastoid active region 3953 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 45 |
ClinVar |
PMID:24482476 PMID:28492532 |
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NCBI chr10:103,135,378...103,135,527
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NT5C2 |
5'-nucleotidase, cytosolic II |
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IAGP EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 45 ClinVar Annotator: match by term: Hereditary spastic paraplegia 45 | ClinVar Annotator: match by term: Spastic paraplegia 45, autosomal recessive CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19415352 PMID:24482476 PMID:25741868 PMID:28492532 PMID:29123918 PMID:32214227 More...
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NCBI chr10:103,088,017...103,193,272
Ensembl chr10:103,087,185...103,277,605
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EEF1A2 |
eukaryotic translation elongation factor 1 alpha 2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 46 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr20:63,488,014...63,499,083
Ensembl chr20:63,488,013...63,499,239
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GBA2 |
glucosylceramidase beta 2 |
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IAGP EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 46 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:16199547 PMID:20593214 PMID:23332916 PMID:23332917 PMID:24252062 PMID:25741868 PMID:26220345 PMID:28492532 PMID:28832565 PMID:30308956 More...
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NCBI chr 9:35,736,866...35,749,228
Ensembl chr 9:35,736,866...35,749,228
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AMPD1 |
adenosine monophosphate deaminase 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 1:114,673,098...114,695,546
Ensembl chr 1:114,673,090...114,695,618
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AP4B1 |
adaptor related protein complex 4 subunit beta 1 |
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IAGP EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar Annotator: match by term: AP4-related intellectual disability and spastic paraplegia | ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
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:26544806 PMID:26637979 PMID:26795593 PMID:27625858 PMID:28492532 PMID:29193663 PMID:31915823 PMID:32964447 PMID:32979048 PMID:33594065 More...
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NCBI chr 1:113,894,194...113,905,028
Ensembl chr 1:113,894,194...113,905,712
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AP4B1-AS1 |
AP4B1 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 ClinVar Annotator: match by term: AP4-related intellectual disability and spastic paraplegia | ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21440262 PMID:21620353 PMID:22290197 PMID:24700674 PMID:24781758 PMID:25167861 PMID:25741868 PMID:26544806 PMID:26637979 PMID:28492532 PMID:29193663 PMID:31915823 PMID:32964447 PMID:32979048 PMID:33594065 More...
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NCBI chr 1:113,812,612...113,901,237
Ensembl chr 1:113,856,635...113,901,237
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G |
BCAS2 |
BCAS2 pre-mRNA processing factor |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 1:114,567,557...114,581,615
Ensembl chr 1:114,567,557...114,581,629
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G |
BCL2L15 |
BCL2 like 15 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 1:113,876,816...113,887,581
Ensembl chr 1:113,876,816...113,887,581
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G |
CAPZA1 |
capping actin protein of muscle Z-line subunit alpha 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 1:112,619,832...112,671,616
Ensembl chr 1:112,619,805...112,671,616
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CSDE1 |
cold shock domain containing E1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 1:114,716,916...114,757,984
Ensembl chr 1:114,716,913...114,758,676
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G |
CTTNBP2NL |
CTTNBP2 N-terminal like |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 1:112,391,087...112,461,164
Ensembl chr 1:112,396,214...112,463,456
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G |
DCLRE1B |
DNA cross-link repair 1B |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:25741868 PMID:28492532 |
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NCBI chr 1:113,904,619...113,914,086
Ensembl chr 1:113,904,619...113,914,086
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DENND2C |
DENN domain containing 2C |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 1:114,582,850...114,670,049
Ensembl chr 1:114,582,848...114,670,422
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G |
HIPK1 |
homeodomain interacting protein kinase 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 1:113,929,324...113,977,869
Ensembl chr 1:113,929,324...113,977,869
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G |
KCND3 |
potassium voltage-gated channel subfamily D member 3 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 1:111,770,662...111,989,668
Ensembl chr 1:111,770,662...111,989,668
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G |
LOC129931235 |
ATAC-STARR-seq lymphoblastoid active region 1540 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 |
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LRIG2 |
leucine rich repeats and immunoglobulin like domains 2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 1:113,073,198...113,132,260
Ensembl chr 1:113,073,198...113,132,260
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MAGI3 |
membrane associated guanylate kinase, WW and PDZ domain containing 3 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 1:113,390,515...113,685,923
Ensembl chr 1:113,390,515...113,685,923
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MOV10 |
Mov10 RNA helicase |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 1:112,674,439...112,700,739
Ensembl chr 1:112,673,141...112,700,756
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NRAS |
NRAS proto-oncogene, GTPase |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
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OLFML3 |
olfactomedin like 3 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 1:113,979,474...113,982,253
Ensembl chr 1:113,979,391...114,035,572
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G |
PHTF1 |
putative homeodomain transcription factor 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 1:113,696,831...113,759,888
Ensembl chr 1:113,696,831...113,759,489
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PPM1J |
protein phosphatase, Mg2+/Mn2+ dependent 1J |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 1:112,709,998...112,715,332
Ensembl chr 1:112,709,994...112,715,332
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G |
PTPN22 |
protein tyrosine phosphatase non-receptor type 22 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
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RHOC |
ras homolog family member C |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 1:112,701,131...112,707,408
Ensembl chr 1:112,701,127...112,707,434
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RSBN1 |
round spermatid basic protein 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 1:113,761,832...113,812,476
Ensembl chr 1:113,761,832...113,812,476
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SIKE1 |
suppressor of IKBKE 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 1:114,769,479...114,780,685
Ensembl chr 1:114,769,479...114,780,685
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G |
SLC16A1 |
solute carrier family 16 member 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 1:112,911,847...112,956,196
Ensembl chr 1:112,911,847...112,957,593
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ST7L |
suppression of tumorigenicity 7 like |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 1:112,517,803...112,619,684
Ensembl chr 1:112,523,514...112,620,825
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G |
SYCP1 |
synaptonemal complex protein 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 1:114,854,088...114,995,370
Ensembl chr 1:114,854,863...114,995,370
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SYT6 |
synaptotagmin 6 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 1:114,089,292...114,153,869
Ensembl chr 1:114,089,291...114,153,880
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TAFA3 |
TAFA chemokine like family member 3 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 1:112,718,905...112,727,235
Ensembl chr 1:112,718,905...112,727,235
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TRIM33 |
tripartite motif containing 33 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 1:114,392,790...114,511,203
Ensembl chr 1:114,392,790...114,511,203
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TSHB |
thyroid stimulating hormone subunit beta |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 1:115,029,826...115,034,309
Ensembl chr 1:115,029,826...115,034,302
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WNT2B |
Wnt family member 2B |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 1:112,466,541...112,530,165
Ensembl chr 1:112,466,541...112,530,165
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AP5Z1 |
adaptor related protein complex 5 subunit zeta 1 |
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IAGP ISS EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 48 OMIM:613647 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
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:27165006 PMID:27606357 PMID:28492532 PMID:28832565 PMID:29908077 PMID:30564185 PMID:31289639 PMID:31673878 PMID:31785789 PMID:32655478 PMID:32860008 PMID:32989326 PMID:33543803 PMID:34426522 More...
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NCBI chr 7:4,775,623...4,794,397
Ensembl chr 7:4,775,615...4,794,397
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LOC129997861 |
ATAC-STARR-seq lymphoblastoid active region 25565 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 48 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28492532 |
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LOC129997864 |
ATAC-STARR-seq lymphoblastoid silent region 17903 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 48 |
ClinVar |
PMID:25741868 PMID:28492532 |
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G |
LOC129997865 |
ATAC-STARR-seq lymphoblastoid active region 25568 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 48 |
ClinVar |
PMID:28492532 |
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G |
MIR4656 |
microRNA 4656 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 48 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:4,788,565...4,788,639
Ensembl chr 7:4,788,565...4,788,639
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ANKRD9 |
ankyrin repeat domain 9 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 49 |
ClinVar |
PMID:28492532 |
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NCBI chr14:102,501,767...102,509,776
Ensembl chr14:102,501,767...102,509,799
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LOC130056519 |
ATAC-STARR-seq lymphoblastoid silent region 6116 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 49 |
ClinVar |
PMID:23176824 PMID:25590979 PMID:25741868 PMID:28492532 |
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NCBI chr14:102,438,109...102,438,158
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TECPR2 |
tectonin beta-propeller repeat containing 2 |
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IAGP EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 49 ClinVar Annotator: match by term: Hereditary spastic paraplegia 49 | 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: Hereditary spastic paraplegia 49 | ClinVar Annotator: match by term: Spastic paraplegia 49, autosomal recessive CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Inherited spastic paresis |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23176824 PMID:25590979 PMID:25640679 PMID:25741868 PMID:25741916 PMID:26431026 PMID:26542466 PMID:27406698 PMID:28492532 PMID:28940097 PMID:29908077 PMID:30681437 PMID:32209221 PMID:32657593 PMID:33847017 PMID:34994087 PMID:38177409 More...
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NCBI chr14:102,362,941...102,502,477
Ensembl chr14:102,362,941...102,502,477
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AP4M1 |
adaptor related protein complex 4 subunit mu 1 |
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IAGP EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: AP-4 deficiency syndrome |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21937992 PMID:24700674 PMID:25326635 PMID:25496299 PMID:25558065 PMID:25741868 PMID:25741915 PMID:25741916 PMID:26077850 PMID:28464862 PMID:28492532 PMID:28832565 PMID:29096665 PMID:29302074 PMID:31230720 PMID:31359954 PMID:31915823 PMID:32979048 PMID:32989326 PMID:33001864 PMID:33813722 PMID:34087981 PMID:36371792 More...
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NCBI chr 7:100,100,794...100,109,039
Ensembl chr 7:100,100,898...100,110,345
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APOA1 |
apolipoprotein A1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 |
ClinVar |
PMID:19559397 |
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NCBI chr11:116,835,751...116,837,950
Ensembl chr11:116,835,751...116,837,622
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APOA1-AS |
APOA1 antisense RNA |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 |
ClinVar |
PMID:19559397 |
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NCBI chr11:116,836,117...116,855,729
Ensembl chr11:116,836,117...116,856,018
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LOC129998897 |
ATAC-STARR-seq lymphoblastoid active region 26336 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 |
ClinVar |
PMID:28492532 |
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AP4E1 |
adaptor related protein complex 4 subunit epsilon 1 |
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IAGP EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 51 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:18414213 PMID:20972249 PMID:21937992 PMID:23472171 PMID:25167861 PMID:25741868 PMID:26544806 PMID:28492532 PMID:32979048 More...
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NCBI chr15:50,907,492...51,005,895
Ensembl chr15:50,908,672...51,005,895
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LOC125078079 |
Sharpr-MPRA regulatory region 3374 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 51 |
ClinVar |
PMID:20972249 |
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NCBI chr15:50,811,672...50,811,966
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LOC130057047 |
ATAC-STARR-seq lymphoblastoid silent region 6430 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 51 |
ClinVar |
PMID:20972249 |
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NCBI chr15:50,765,281...50,765,740
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LOC130057048 |
ATAC-STARR-seq lymphoblastoid active region 9398 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 51 |
ClinVar |
PMID:20972249 |
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NCBI chr15:50,854,708...50,854,757
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LOC130057049 |
ATAC-STARR-seq lymphoblastoid active region 9399 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 51 |
ClinVar |
PMID:20972249 |
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NCBI chr15:50,879,036...50,879,205
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LOC130057050 |
ATAC-STARR-seq lymphoblastoid active region 9400 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 51 |
ClinVar |
PMID:20972249 |
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NCBI chr15:50,884,267...50,884,386
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SPPL2A |
signal peptide peptidase like 2A |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 51 |
ClinVar |
PMID:20972249 |
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NCBI chr15:50,702,266...50,765,706
Ensembl chr15:50,702,266...50,765,948
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AP4S1 |
adaptor related protein complex 4 subunit sigma 1 |
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IAGP EXP |
ClinVar Annotator: match by term: Spastic paraplegia 52, autosomal recessive CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
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:32979048 More...
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NCBI chr14:31,025,106...31,096,450
Ensembl chr14:31,025,106...31,130,996
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ASAH1 |
N-acylsphingosine amidohydrolase 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998
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ASAH1-AS1 |
ASAH1 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:18,084,868...18,097,651
Ensembl chr 8:18,084,384...18,097,644
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ATP6V1B2 |
ATPase H+ transporting V1 subunit B2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819
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CNOT7 |
CCR4-NOT transcription complex subunit 7 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:17,224,966...17,246,857
Ensembl chr 8:17,224,966...17,246,878
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CSGALNACT1 |
chondroitin sulfate N-acetylgalactosaminyltransferase 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,161...19,758,029
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FGF20 |
fibroblast growth factor 20 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:16,992,181...17,002,345
Ensembl chr 8:16,992,181...17,002,345
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FGL1 |
fibrinogen like 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:17,864,389...17,895,538
Ensembl chr 8:17,864,380...17,910,365
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INTS10 |
integrator complex subunit 10 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:19,817,416...19,852,067
Ensembl chr 8:19,817,391...19,852,083
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LPL |
lipoprotein lipase |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259
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LZTS1 |
leucine zipper tumor suppressor 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:20,246,165...20,303,963
Ensembl chr 8:20,246,165...20,303,963
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MICU3 |
mitochondrial calcium uptake family member 3 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:17,027,238...17,138,640
Ensembl chr 8:17,027,238...17,122,642
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MTMR7 |
myotubularin related protein 7 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:17,296,794...17,413,351
Ensembl chr 8:17,296,794...17,413,528
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MTUS1 |
microtubule associated scaffold protein 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:17,643,802...17,801,521
Ensembl chr 8:17,643,795...17,801,094
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NAT1 |
N-acetyltransferase 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:18,170,467...18,223,689
Ensembl chr 8:18,170,477...18,223,689
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NAT2 |
N-acetyltransferase 2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:18,386,301...18,401,218
Ensembl chr 8:18,391,282...18,401,218
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PCM1 |
pericentriolar material 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:17,922,988...18,029,948
Ensembl chr 8:17,922,842...18,029,948
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PDGFRL |
platelet derived growth factor receptor like |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:17,576,433...17,643,144
Ensembl chr 8:17,576,433...17,644,071
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PSD3 |
pleckstrin and Sec7 domain containing 3 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:18,527,303...19,084,805
Ensembl chr 8:18,527,303...19,084,730
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SH2D4A |
SH2 domain containing 4A |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:19,313,693...19,396,218
Ensembl chr 8:19,313,693...19,396,218
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SLC18A1 |
solute carrier family 18 member A1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:20,144,855...20,183,136
Ensembl chr 8:20,144,855...20,183,206
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SLC7A2 |
solute carrier family 7 member 2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:17,494,069...17,570,566
Ensembl chr 8:17,497,088...17,570,573
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VPS37A |
VPS37A subunit of ESCRT-I |
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IAGP EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 | ClinVar Annotator: match by term: Spastic paraplegia 53, autosomal recessive CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22717650 PMID:25741868 PMID:28492532 PMID:29473047 PMID:34779508 More...
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NCBI chr 8:17,246,958...17,333,455
Ensembl chr 8:17,246,931...17,302,427
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G |
ZDHHC2 |
zinc finger DHHC-type palmitoyltransferase 2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:17,156,482...17,224,799
Ensembl chr 8:17,156,482...17,224,799
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ADAM9 |
ADAM metallopeptidase domain 9 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:38,996,973...39,105,261
Ensembl chr 8:38,996,754...39,105,445
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ADGRA2 |
adhesion G protein-coupled receptor A2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:37,796,883...37,844,896
Ensembl chr 8:37,784,191...37,844,896
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ADRB3 |
adrenoceptor beta 3 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:37,962,990...37,966,599
Ensembl chr 8:37,962,990...37,966,599
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ASH2L |
ASH2 like, histone lysine methyltransferase complex subunit |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:38,105,493...38,140,080
Ensembl chr 8:38,105,493...38,144,076
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BAG4 |
BAG cochaperone 4 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:38,176,855...38,213,301
Ensembl chr 8:38,176,533...38,213,301
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G |
BRF2 |
BRF2 RNA polymerase III transcription initiation factor subunit |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:37,843,268...37,849,861
Ensembl chr 8:37,843,268...37,849,861
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DDHD2 |
DDHD domain containing 2 |
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IAGP ISS EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 OMIM:615033 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM |
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 More...
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NCBI chr 8:38,231,585...38,273,647
Ensembl chr 8:38,225,218...38,275,558
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G |
EIF4EBP1 |
eukaryotic translation initiation factor 4E binding protein 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:38,030,534...38,060,365
Ensembl chr 8:38,030,534...38,060,365
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G |
ERLIN2 |
ER lipid raft associated 2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422
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G |
FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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GOT1L1 |
glutamic-oxaloacetic transaminase 1 like 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:37,934,281...37,940,124
Ensembl chr 8:37,934,281...37,940,124
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G |
HTRA4 |
HtrA serine peptidase 4 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:38,974,228...38,988,663
Ensembl chr 8:38,974,228...38,988,663
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G |
LETM2 |
leucine zipper and EF-hand containing transmembrane protein 2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:38,382,431...38,409,527
Ensembl chr 8:38,386,207...38,409,527
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G |
LINC03042 |
long intergenic non-protein coding RNA 3042 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:38,510,834...38,528,662
Ensembl chr 8:38,510,834...38,560,939
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G |
LSM1 |
LSM1 homolog, mRNA degradation associated |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:38,163,321...38,176,730
Ensembl chr 8:38,163,335...38,176,730
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NSD3 |
nuclear receptor binding SET domain protein 3 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:38,269,704...38,382,271
Ensembl chr 8:38,269,704...38,382,272
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G |
PLEKHA2 |
pleckstrin homology domain containing A2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:38,901,346...38,973,912
Ensembl chr 8:38,901,235...38,973,912
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G |
PLPBP |
pyridoxal phosphate binding protein |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:37,762,546...37,779,768
Ensembl chr 8:37,762,595...37,779,768
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G |
PLPP5 |
phospholipid phosphatase 5 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:38,263,130...38,269,224
Ensembl chr 8:38,263,130...38,269,243
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G |
RAB11FIP1 |
RAB11 family interacting protein 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:37,858,618...37,899,497
Ensembl chr 8:37,858,618...37,899,497
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G |
STAR |
steroidogenic acute regulatory protein |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:38,142,700...38,150,952
Ensembl chr 8:38,142,700...38,150,992
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G |
TACC1 |
transforming acidic coiled-coil containing protein 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:38,728,582...38,853,028
Ensembl chr 8:38,728,186...38,853,028
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G |
TM2D2 |
TM2 domain containing 2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:38,988,808...38,996,990
Ensembl chr 8:38,988,808...38,996,824
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G |
MTRFR |
mitochondrial translation release factor in rescue |
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IAGP |
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...
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NCBI chr12:123,232,914...123,257,960
Ensembl chr12:123,233,385...123,258,079
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G |
CYP2U1 |
cytochrome P450 family 2 subfamily U member 1 |
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IAGP EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 56 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:615030 PMID:14660610 PMID:23176821 PMID:25558065 PMID:25741868 PMID:25741914 PMID:26914923 PMID:26936192 PMID:27292318 PMID:28492532 PMID:28600779 PMID:29034544 PMID:32860008 PMID:33107650 PMID:36166872 More...
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NCBI chr 4:107,931,549...107,953,461
Ensembl chr 4:107,931,549...107,953,461
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G |
CYP2U1-AS1 |
CYP2U1 and SGMS2 antisense RNA 1 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 56 |
ClinVar |
PMID:23176821 PMID:25741868 PMID:28492532 PMID:32860008 PMID:33107650 |
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NCBI chr 4:107,863,479...107,932,119
Ensembl chr 4:107,863,473...107,989,724
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G |
LOC129992929 |
ATAC-STARR-seq lymphoblastoid active region 21791 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 56 |
ClinVar |
PMID:25741868 |
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G |
TFG |
trafficking from ER to golgi regulator |
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IAGP EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 57 | ClinVar Annotator: match by term: Spastic paraplegia 57, autosomal recessive CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:22883144 PMID:23479643 PMID:23553329 PMID:23806086 PMID:24088041 PMID:24613659 PMID:25725944 PMID:25741868 PMID:26257172 PMID:27492651 PMID:28196470 PMID:28492532 PMID:29971521 PMID:30157421 PMID:30221345 PMID:33726816 More...
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NCBI chr 3:100,709,290...100,748,967
Ensembl chr 3:100,709,295...100,748,964
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G |
ALDH18A1 |
aldehyde dehydrogenase 18 family member A1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711
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G |
C19orf12 |
chromosome 19 open reading frame 12 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A |
ClinVar |
PMID:21981780 PMID:25741868 PMID:28492532 |
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NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789
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G |
CYP2U1 |
cytochrome P450 family 2 subfamily U member 1 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:107,931,549...107,953,461
Ensembl chr 4:107,931,549...107,953,461
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G |
CYP2U1-AS1 |
CYP2U1 and SGMS2 antisense RNA 1 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A |
ClinVar |
PMID:25741868 |
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NCBI chr 4:107,863,479...107,932,119
Ensembl chr 4:107,863,473...107,989,724
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G |
CYP7B1 |
cytochrome P450 family 7 subfamily B member 1 |
|
IAGP EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:1943942 PMID:7987300 PMID:9536098 PMID:9802883 PMID:12874406 PMID:15007371 PMID:16199547 PMID:17503452 PMID:17576681 PMID:18252231 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:24519355 PMID:24641183 PMID:24658845 PMID:24927729 PMID:25324891 PMID:25326635 PMID:25326637 PMID:25525159 PMID:25741868 PMID:26370385 PMID:26374131 PMID:26467025 PMID:26714052 PMID:27077743 PMID:27217339 PMID: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:31980526 PMID:32202070 PMID:33160247 PMID:34426522 More...
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NCBI chr 8:64,586,575...64,798,737
Ensembl chr 8:64,587,763...64,798,737
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G |
GBA2 |
glucosylceramidase beta 2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29453417 |
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NCBI chr 9:35,736,866...35,749,228
Ensembl chr 9:35,736,866...35,749,228
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G |
LOC130000507 |
ATAC-STARR-seq lymphoblastoid silent region 19243 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A |
ClinVar |
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NCBI chr 8:64,798,535...64,798,644
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G |
LOC130000508 |
ATAC-STARR-seq lymphoblastoid silent region 19244 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A |
ClinVar |
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NCBI chr 8:64,798,655...64,798,704
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G |
MCOLN1 |
mucolipin TRP cation channel 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A |
ClinVar |
PMID:25741868 |
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NCBI chr19:7,522,624...7,534,009
Ensembl chr19:7,522,624...7,534,009
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G |
CYFIP1 |
cytoplasmic FMR1 interacting protein 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 |
ClinVar |
PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 |
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NCBI chr15:22,867,052...22,980,898
Ensembl chr15:22,867,052...22,981,063
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G |
LOC112272575 |
H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:22999149-22999824 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 |
ClinVar |
PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 |
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NCBI chr15:22,873,244...22,873,919
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G |
LOC126862074 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:22990202-22991401 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 |
ClinVar |
PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 |
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NCBI chr15:22,881,667...22,882,866
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G |
LOC130056709 |
ATAC-STARR-seq lymphoblastoid silent region 6259 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 |
ClinVar |
PMID:7825577 PMID:14508710 PMID:17166836 PMID:17268193 PMID:19091982 PMID:20816793 PMID:23032108 PMID:25689425 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32501971 More...
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NCBI chr15:22,786,512...22,786,871
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G |
LOC130056710 |
ATAC-STARR-seq lymphoblastoid silent region 6260 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 |
ClinVar |
PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 |
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NCBI chr15:22,786,942...22,787,091
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G |
LOC130056711 |
ATAC-STARR-seq lymphoblastoid silent region 6261 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 |
ClinVar |
PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 |
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NCBI chr15:22,787,102...22,787,231
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G |
LOC130056712 |
ATAC-STARR-seq lymphoblastoid active region 9154 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 |
ClinVar |
PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 |
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NCBI chr15:22,787,582...22,787,691
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G |
LOC130056713 |
ATAC-STARR-seq lymphoblastoid active region 9155 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 |
ClinVar |
PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 |
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NCBI chr15:22,796,785...22,797,064
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G |
LOC130056714 |
ATAC-STARR-seq lymphoblastoid active region 9156 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 |
ClinVar |
PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 |
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NCBI chr15:22,838,563...22,838,792
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G |
LOC130056715 |
ATAC-STARR-seq lymphoblastoid active region 9157 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 |
ClinVar |
PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 |
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NCBI chr15:22,844,662...22,844,771
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G |
LOC130056716 |
ATAC-STARR-seq lymphoblastoid active region 9158 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 |
ClinVar |
PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 |
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NCBI chr15:22,845,326...22,845,435
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G |
LOC130056717 |
ATAC-STARR-seq lymphoblastoid active region 9159 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 |
ClinVar |
PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 |
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NCBI chr15:22,895,472...22,895,561
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G |
LOC130056718 |
ATAC-STARR-seq lymphoblastoid active region 9160 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 |
ClinVar |
PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 |
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NCBI chr15:22,895,752...22,895,861
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G |
NIPA1 |
NIPA magnesium transporter 1 |
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IAGP EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 | ClinVar Annotator: match by term: NIPA1-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
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:21599812 PMID:22302102 PMID:22378146 PMID:23032108 PMID:23850684 PMID:24075313 PMID:24128679 PMID:25689425 PMID:25741868 PMID:26467025 PMID:27084228 PMID:28492532 PMID:28832565 PMID:29934652 PMID:31104286 PMID:31630374 PMID:32500351 PMID:32501971 PMID:32581362 More...
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NCBI chr15:22,786,225...22,829,789
Ensembl chr15:22,773,063...22,829,789
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G |
NIPA2 |
NIPA magnesium transporter 2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 |
ClinVar |
PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 |
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NCBI chr15:22,838,666...22,868,384
Ensembl chr15:22,838,644...22,869,362
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G |
TUBGCP5 |
tubulin gamma complex component 5 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 6 |
ClinVar |
PMID:17268193 PMID:23032108 PMID:25689425 PMID:28492532 |
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NCBI chr15:22,983,025...23,039,569
Ensembl chr15:22,983,192...23,039,572
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G |
ARL6IP1 |
ADP ribosylation factor like GTPase 6 interacting protein 1 |
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IAGP EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 61 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24482476 PMID:25741868 PMID:25741916 PMID:27848944 PMID:28471035 PMID:28492532 PMID:30237576 PMID:30980493 PMID:31272422 PMID:33188530 More...
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NCBI chr16:18,791,667...18,801,549
Ensembl chr16:18,791,669...18,801,572
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G |
LOC130058581 |
ATAC-STARR-seq lymphoblastoid active region 10519 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 61 |
ClinVar |
PMID:28492532 |
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NCBI chr16:18,801,053...18,801,172
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G |
LOC130058582 |
ATAC-STARR-seq lymphoblastoid active region 10520 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 61 |
ClinVar |
PMID:28492532 |
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NCBI chr16:18,801,393...18,801,472
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G |
ERLIN1 |
ER lipid raft associated 1 |
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IAGP EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 62 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24482476 PMID:25741868 PMID:28492532 More...
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NCBI chr10:100,150,094...100,186,029
Ensembl chr10:100,150,094...100,186,033
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G |
AHCYL1 |
adenosylhomocysteinase like 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
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NCBI chr 1:109,984,765...110,023,742
Ensembl chr 1:109,984,765...110,023,742
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G |
AKNAD1 |
AKNA domain containing 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
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NCBI chr 1:108,815,901...108,858,244
Ensembl chr 1:108,815,898...108,963,484
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G |
ALX3 |
ALX homeobox 3 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
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NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672
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G |
AMIGO1 |
adhesion molecule with Ig like domain 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
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NCBI chr 1:109,504,178...109,509,727
Ensembl chr 1:109,504,178...109,509,738
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G |
AMPD2 |
adenosine monophosphate deaminase 2 |
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IAGP EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 | ClinVar Annotator: match by term: Spastic paraplegia 63, autosomal recessive CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23911318 PMID:24482476 PMID:25558065 PMID:25741868 PMID:25741916 PMID:27159321 PMID:28492532 PMID:28832565 PMID:29463858 PMID:31130284 PMID:31833174 PMID:32552793 More...
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NCBI chr 1:109,619,837...109,632,055
Ensembl chr 1:109,616,104...109,632,051
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G |
ATXN7L2 |
ataxin 7 like 2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
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NCBI chr 1:109,483,905...109,492,804
Ensembl chr 1:109,483,479...109,492,804
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G |
CD53 |
CD53 molecule |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
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NCBI chr 1:110,871,210...110,899,922
Ensembl chr 1:110,871,188...110,899,922
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G |
CELSR2 |
cadherin EGF LAG seven-pass G-type receptor 2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
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NCBI chr 1:109,249,539...109,275,751
Ensembl chr 1:109,249,539...109,275,751
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G |
CFAP276 |
cilia and flagella associated protein 276 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
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NCBI chr 1:109,105,951...109,113,831
Ensembl chr 1:109,105,951...109,113,857
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G |
CLCC1 |
chloride channel CLIC like 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
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NCBI chr 1:108,929,505...108,963,484
Ensembl chr 1:108,881,885...108,963,527
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G |
CSF1 |
colony stimulating factor 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
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NCBI chr 1:109,910,506...109,930,992
Ensembl chr 1:109,910,242...109,930,992
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G |
CYB561D1 |
cytochrome b561 family member D1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
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NCBI chr 1:109,494,094...109,500,435
Ensembl chr 1:109,494,052...109,502,932
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G |
DRAM2 |
DNA damage regulated autophagy modulator 2 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
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NCBI chr 1:111,117,163...111,140,093
Ensembl chr 1:111,117,163...111,140,203
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G |
EEIG2 |
EEIG family member 2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
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NCBI chr 1:108,560,100...108,639,322
Ensembl chr 1:108,560,089...108,644,900
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G |
ELAPOR1 |
endosome-lysosome associated apoptosis and autophagy regulator 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
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NCBI chr 1:109,114,115...109,206,781
Ensembl chr 1:109,113,679...109,206,781
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G |
EPS8L3 |
EPS8 signaling adaptor L3 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chr 1:109,750,080...109,763,923
Ensembl chr 1:109,750,080...109,764,027
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G |
FNDC7 |
fibronectin type III domain containing 7 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chr 1:108,712,908...108,742,749
Ensembl chr 1:108,712,908...108,742,749
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G |
GNAI3 |
G protein subunit alpha i3 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chr 1:109,548,615...109,600,195
Ensembl chr 1:109,548,615...109,600,195
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G |
GNAT2 |
G protein subunit alpha transducin 2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chr 1:109,603,091...109,619,616
Ensembl chr 1:109,603,091...109,619,929
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G |
GPR61 |
G protein-coupled receptor 61 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chr 1:109,539,872...109,547,260
Ensembl chr 1:109,539,872...109,548,406
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G |
GPSM2 |
G protein signaling modulator 2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chr 1:108,876,985...108,934,545
Ensembl chr 1:108,875,350...108,934,545
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G |
GSTM1 |
glutathione S-transferase mu 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
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G |
GSTM2 |
glutathione S-transferase mu 2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chr 1:109,668,057...109,683,997
Ensembl chr 1:109,668,022...109,709,551
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G |
GSTM3 |
glutathione S-transferase mu 3 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chr 1:109,733,937...109,741,038
Ensembl chr 1:109,733,932...109,741,038
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G |
GSTM4 |
glutathione S-transferase mu 4 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chr 1:109,656,099...109,667,727
Ensembl chr 1:109,656,099...109,665,496
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G |
GSTM5 |
glutathione S-transferase mu 5 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chr 1:109,711,751...109,718,268
Ensembl chr 1:109,711,780...109,775,428
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G |
HENMT1 |
HEN methyltransferase 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chr 1:108,648,295...108,661,474
Ensembl chr 1:108,648,290...108,661,526
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G |
KCNA10 |
potassium voltage-gated channel subfamily A member 10 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chr 1:110,517,217...110,519,175
Ensembl chr 1:110,517,217...110,519,175
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G |
KCNA2 |
potassium voltage-gated channel subfamily A member 2 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chr 1:110,593,580...110,631,440
Ensembl chr 1:110,519,837...110,631,474
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G |
KCNA3 |
potassium voltage-gated channel subfamily A member 3 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chr 1:110,653,560...110,674,940
Ensembl chr 1:110,653,560...110,674,940
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G |
KCNC4 |
potassium voltage-gated channel subfamily C member 4 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chr 1:110,210,314...110,284,080
Ensembl chr 1:110,210,314...110,283,100
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G |
LAMTOR5 |
late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chr 1:110,401,253...110,407,924
Ensembl chr 1:110,401,249...110,407,942
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G |
LOC126805822 |
BRD4-independent group 4 enhancer GRCh37_chr1:110170748-110171947 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23911318 PMID:25558065 PMID:25741868 PMID:25741916 PMID:28492532 PMID:28832565 PMID:29463858 PMID:32552793 More...
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NCBI chr 1:109,627,640...109,629,325
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G |
LOC129931109 |
ATAC-STARR-seq lymphoblastoid active region 1448 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:25741868 PMID:28492532 |
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G |
LRIF1 |
ligand dependent nuclear receptor interacting factor 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chr 1:110,874,957...110,963,922
Ensembl chr 1:110,947,190...110,963,965
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G |
MIR197 |
microRNA 197 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chr 1:109,598,893...109,598,967
Ensembl chr 1:109,598,893...109,598,967
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G |
MYBPHL |
myosin binding protein H like |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chr 1:109,292,365...109,307,011
Ensembl chr 1:109,292,365...109,307,011
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G |
NBPF4 |
NBPF member 4 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chr 1:108,222,464...108,272,913
Ensembl chr 1:108,222,464...108,244,081
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G |
NBPF6 |
NBPF member 6 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chr 1:108,421,491...108,471,920
Ensembl chr 1:108,450,282...108,471,920
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G |
PROK1 |
prokineticin 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chr 1:110,451,149...110,457,358
Ensembl chr 1:110,451,149...110,457,358
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G |
PRPF38B |
pre-mRNA processing factor 38B |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chr 1:108,692,310...108,702,928
Ensembl chr 1:108,692,310...108,702,928
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G |
PSMA5 |
proteasome 20S subunit alpha 5 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chr 1:109,399,042...109,426,448
Ensembl chr 1:109,399,042...109,426,448
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G |
PSRC1 |
proline and serine rich coiled-coil 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chr 1:109,279,556...109,283,145
Ensembl chr 1:109,279,556...109,283,186
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G |
RBM15 |
RNA binding motif protein 15 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chr 1:110,339,377...110,346,677
Ensembl chr 1:110,338,506...110,346,681
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G |
SARS1 |
seryl-tRNA synthetase 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chr 1:109,213,893...109,238,182
Ensembl chr 1:109,213,918...109,238,182
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G |
SLC16A4 |
solute carrier family 16 member 4 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chr 1:110,362,857...110,391,026
Ensembl chr 1:110,362,851...110,391,082
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G |
SLC25A24 |
solute carrier family 25 member 24 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849
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G |
SLC6A17 |
solute carrier family 6 member 17 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chr 1:110,150,494...110,202,202
Ensembl chr 1:110,150,494...110,202,202
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G |
SORT1 |
sortilin 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chr 1:109,309,575...109,397,918
Ensembl chr 1:109,309,568...109,397,918
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G |
STRIP1 |
striatin interacting protein 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chr 1:110,031,577...110,054,641
Ensembl chr 1:110,031,577...110,074,641
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G |
STXBP3 |
syntaxin binding protein 3 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chr 1:108,746,674...108,809,523
Ensembl chr 1:108,746,674...108,809,523
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G |
SYPL2 |
synaptophysin like 2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chr 1:109,466,546...109,482,134
Ensembl chr 1:109,466,546...109,482,134
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G |
TAF13 |
TATA-box binding protein associated factor 13 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chr 1:109,064,140...109,076,003
Ensembl chr 1:109,062,496...109,076,012
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G |
TMEM167B |
transmembrane protein 167B |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chr 1:109,090,764...109,096,934
Ensembl chr 1:109,090,764...109,096,934
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G |
UBL4B |
ubiquitin like 4B |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
|
NCBI chr 1:110,112,443...110,113,947
Ensembl chr 1:110,112,443...110,113,947
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G |
WDR47 |
WD repeat domain 47 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 63 |
ClinVar |
PMID:23911318 PMID:28492532 |
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NCBI chr 1:108,970,214...109,042,102
Ensembl chr 1:108,970,214...109,042,113
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G |
ENTPD1 |
ectonucleoside triphosphate diphosphohydrolase 1 |
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IAGP EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 64 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:17576681 PMID:24482476 PMID:25741868 PMID:28492532 PMID:29691679 PMID:30652007 PMID:35471564 More...
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NCBI chr10:95,694,186...95,877,266
Ensembl chr10:95,711,779...95,877,266
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G |
ENTPD1-AS1 |
ENTPD1 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 64 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:24482476 PMID:25741868 PMID:28492532 PMID:29691679 PMID:30652007 PMID:35471564 More...
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NCBI chr10:95,753,206...96,090,235
Ensembl chr10:95,732,976...96,090,250
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G |
LOC130004411 |
ATAC-STARR-seq lymphoblastoid active region 3804 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 64 |
ClinVar |
PMID:25741868 |
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NCBI chr10:95,755,724...95,756,023
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G |
COL5A1 |
collagen type V alpha 1 chain |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia Paraplegin type |
ClinVar |
PMID:25326637 PMID:28492532 |
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NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843
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G |
LOC101448202 |
uncharacterized LOC101448202 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia Paraplegin type |
ClinVar |
PMID:25326637 PMID:28492532 |
|
NCBI chr 9:134,819,415...134,872,618
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G |
LOC130059818 |
ATAC-STARR-seq lymphoblastoid silent region 7911 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 | ClinVar Annotator: match by term: SPG7-related condition |
ClinVar |
PMID:9635427 PMID:14985266 PMID:16534102 PMID:21623769 PMID:22571692 PMID:22964162 PMID:23065789 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29482223 PMID:32483926 PMID:33841295 PMID:35243150 More...
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NCBI chr16:89,508,187...89,508,746
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G |
SPG7 |
SPG7 matrix AAA peptidase subunit, paraplegin |
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ISS |
OMIM:607259 |
MouseDO |
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NCBI chr16:89,490,970...89,499,282
Ensembl chr16:89,490,719...89,557,766
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G |
SPG7 |
SPG7 matrix AAA peptidase subunit, paraplegin |
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IAGP EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 | ClinVar Annotator: match by term: SPG7-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2779008 PMID:9536098 PMID:9634528 PMID:9635427 PMID:11222789 PMID:11478530 PMID:14722615 PMID:14985266 PMID:15507752 PMID:16199547 PMID:16357941 PMID:16534102 PMID:17384005 PMID:17576681 PMID:17646629 PMID:17661097 PMID:18200586 PMID:18414213 PMID:18563470 PMID:18799786 PMID:19841671 PMID:20108356 PMID:20186691 PMID:21623769 PMID:22554690 PMID:22571692 PMID:22964162 PMID:23065789 PMID:23269439 PMID:23733235 PMID:23812641 PMID:23953397 PMID:24033266 PMID:24401005 PMID:24466038 PMID:24727571 PMID:24731568 PMID:25034272 PMID:25133958 PMID:25277871 PMID:25326637 PMID:25398481 PMID:25497598 PMID:25640679 PMID:25681447 PMID:25741868 PMID:25850353 PMID:25976027 PMID:26094131 PMID:26244503 PMID:26260707 PMID:26365338 PMID:26374131 PMID:26467025 PMID:26506339 PMID:26626314 PMID:26671083 PMID:26756429 PMID:27016405 PMID:27077743 PMID:27084228 PMID:27123479 PMID:27165006 PMID:27217339 PMID:27260292 PMID:27406698 PMID:27557734 PMID:27790088 PMID:27957547 PMID:28362824 PMID:28444220 PMID:28492532 PMID:28608987 PMID:28812649 PMID:28832565 PMID:29026558 PMID:29057857 PMID:29246610 PMID:29246844 PMID:29431110 PMID:29482223 PMID:29908077 PMID:29915382 PMID:29970176 PMID:30098094 PMID:30497413 PMID:30533525 PMID:30537300 PMID:30588391 PMID:30747022 PMID:31068484 PMID:31345272 PMID:31407473 PMID:31433872 PMID:31475037 PMID:31673878 PMID:31692161 PMID:31854126 PMID:31980526 PMID:32002796 PMID:32140910 PMID:32153640 PMID:32161564 PMID:32204931 PMID:32270516 PMID:32397312 PMID:32447552 PMID:32483926 PMID:32548275 PMID:32581362 PMID:32816195 PMID:32973427 PMID:33144682 PMID:33598982 PMID:33624863 PMID:33841295 PMID:33883237 PMID:34445196 PMID:34500365 PMID:35243150 More...
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NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766
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G |
ARHGAP9 |
Rho GTPase activating protein 9 |
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IAGP |
ClinVar Annotator: match by term: Spastic paraplegia 70, autosomal recessive |
ClinVar |
PMID:24482476 PMID:28492532 |
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NCBI chr12:57,472,269...57,488,824
Ensembl chr12:57,472,264...57,488,814
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G |
MARS1 |
methionyl-tRNA synthetase 1 |
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IAGP |
ClinVar Annotator: match by term: Spastic paraplegia 70, autosomal recessive |
OMIM ClinVar |
PMID:24482476 PMID:25741868 PMID:28492532 PMID:28708278 PMID:34585293 |
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NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569
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G |
LOC129994740 |
ATAC-STARR-seq lymphoblastoid silent region 16395 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 72 |
ClinVar |
PMID:24482476 PMID:28492532 |
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G |
REEP2 |
receptor accessory protein 2 |
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IAGP EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 72 ClinVar Annotator: match by term: Spastic paraplegia 72, autosomal recessive ClinVar Annotator: match by term: Hereditary spastic paraplegia 72 | ClinVar Annotator: match by term: Spastic paraplegia 72b, autosomal recessive CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:17576681 PMID:24388663 PMID:24482476 PMID:25741868 PMID:28491902 PMID:28492532 PMID:33526816 More...
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NCBI chr 5:138,439,057...138,446,965
Ensembl chr 5:138,439,057...138,446,969
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G |
CPT1C |
carnitine palmitoyltransferase 1C |
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IAGP EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 73 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:25751282 PMID:28492532 PMID:30564185 PMID:30911584 More...
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NCBI chr19:49,690,662...49,713,731
Ensembl chr19:49,690,898...49,713,731
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G |
GPT2 |
glutamic--pyruvic transaminase 2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 73 |
ClinVar |
PMID:25741868 |
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NCBI chr16:46,884,362...46,931,289
Ensembl chr16:46,884,362...46,931,289
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G |
IBA57 |
iron-sulfur cluster assembly factor IBA57 |
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IAGP EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 74 ClinVar Annotator: match by term: Hereditary spastic paraplegia 74 | ClinVar Annotator: match by term: Spastic paraplegia 74, autosomal recessive CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:9536098 PMID:17576681 PMID:23462291 PMID:25609768 PMID:25741868 PMID:25971455 PMID:27785568 PMID:28492532 PMID:28671726 PMID:30258207 PMID:34906502 More...
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NCBI chr 1:228,165,804...228,182,257
Ensembl chr 1:228,165,804...228,182,257
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G |
ALKBH6 |
alkB homolog 6 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:36,009,120...36,014,239
Ensembl chr19:36,009,120...36,014,239
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G |
APLP1 |
amyloid beta precursor like protein 1 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,868,574...35,879,792
Ensembl chr19:35,867,899...35,879,792
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G |
ARHGAP33 |
Rho GTPase activating protein 33 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,775,564...35,788,822
Ensembl chr19:35,774,532...35,788,822
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G |
ATP4A |
ATPase H+/K+ transporting subunit alpha |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,550,031...35,563,658
Ensembl chr19:35,550,031...35,563,658
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G |
CAPNS1 |
calpain small subunit 1 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:36,140,066...36,150,353
Ensembl chr19:36,139,953...36,150,353
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G |
CD22 |
CD22 molecule |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,329,187...35,347,361
Ensembl chr19:35,319,261...35,347,361
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G |
CEBPA |
CCAAT enhancer binding protein alpha |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:33,299,934...33,302,534
Ensembl chr19:33,299,934...33,302,534
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G |
CEBPG |
CCAAT enhancer binding protein gamma |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:33,373,709...33,382,686
Ensembl chr19:33,373,685...33,382,686
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G |
CEP89 |
centrosomal protein 89 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:32,875,925...32,971,958
Ensembl chr19:32,875,925...32,971,991
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G |
CHST8 |
carbohydrate sulfotransferase 8 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:33,621,953...33,773,509
Ensembl chr19:33,621,953...33,773,509
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G |
CLIP3 |
CAP-Gly domain containing linker protein 3 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:36,014,660...36,032,873
Ensembl chr19:36,014,660...36,033,343
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G |
COX6B1 |
cytochrome c oxidase subunit 6B1 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,648,323...35,658,782
Ensembl chr19:35,648,323...35,658,782
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G |
COX7A1 |
cytochrome c oxidase subunit 7A1 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:36,150,922...36,152,447
Ensembl chr19:36,150,922...36,152,449
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G |
DMKN |
dermokine |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,497,220...35,513,649
Ensembl chr19:35,497,220...35,513,658
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G |
ETV2 |
ETS variant transcription factor 2 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,641,745...35,644,871
Ensembl chr19:35,641,745...35,644,871
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G |
FAAP24 |
FA core complex associated protein 24 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:32,972,242...32,978,229
Ensembl chr19:32,972,209...32,978,229
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G |
FAM187B |
family with sequence similarity 187 member B |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,224,800...35,228,739
Ensembl chr19:35,224,800...35,228,739
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G |
FFAR1 |
free fatty acid receptor 1 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,347,902...35,353,864
Ensembl chr19:35,347,902...35,353,864
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G |
FFAR2 |
free fatty acid receptor 2 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,448,257...35,451,767
Ensembl chr19:35,443,907...35,451,767
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G |
FFAR3 |
free fatty acid receptor 3 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,358,151...35,360,489
Ensembl chr19:35,358,460...35,360,489
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G |
FXYD3 |
FXYD domain containing ion transport regulator 3 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,115,823...35,124,324
Ensembl chr19:35,115,823...35,124,324
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|
G |
FXYD5 |
FXYD domain containing ion transport regulator 5 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,154,735...35,169,881
Ensembl chr19:35,154,730...35,169,881
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G |
FXYD7 |
FXYD domain containing ion transport regulator 7 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,143,255...35,154,302
Ensembl chr19:35,143,250...35,154,302
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G |
GAPDHS |
glyceraldehyde-3-phosphate dehydrogenase, spermatogenic |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,533,456...35,545,319
Ensembl chr19:35,533,455...35,545,319
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G |
GARRE1 |
granule associated Rac and RHOG effector 1 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:34,254,554...34,355,566
Ensembl chr19:34,254,552...34,355,566
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G |
GPATCH1 |
G-patch domain containing 1 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:33,081,181...33,130,542
Ensembl chr19:33,080,899...33,130,542
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G |
GPI |
glucose-6-phosphate isomerase |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:34,359,718...34,402,413
Ensembl chr19:34,359,480...34,402,413
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G |
GPR42 |
G protein-coupled receptor 42 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,371,068...35,372,962
Ensembl chr19:35,371,068...35,372,962
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G |
GRAMD1A |
GRAM domain containing 1A |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:34,994,727...35,026,469
Ensembl chr19:34,994,784...35,026,471
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G |
HAMP |
hepcidin antimicrobial peptide |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143
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G |
HAUS5 |
HAUS augmin like complex subunit 5 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,612,735...35,625,355
Ensembl chr19:35,612,735...35,625,355
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G |
HCST |
hematopoietic cell signal transducer |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,902,529...35,904,377
Ensembl chr19:35,902,529...35,904,377
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G |
HPN |
hepsin |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,040,506...35,066,573
Ensembl chr19:35,040,506...35,066,573
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G |
HSPB6 |
heat shock protein family B (small) member 6 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,754,566...35,757,029
Ensembl chr19:35,754,566...35,758,079
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G |
IGFLR1 |
IGF like family receptor 1 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,738,801...35,742,452
Ensembl chr19:35,738,801...35,742,453
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G |
KCTD15 |
potassium channel tetramerization domain containing 15 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:33,794,040...33,815,761
Ensembl chr19:33,795,933...33,815,763
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G |
KIRREL2 |
kirre like nephrin family adhesion molecule 2 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,851,399...35,867,136
Ensembl chr19:35,855,861...35,867,136
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G |
KMT2B |
lysine methyltransferase 2B |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880
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G |
KRTDAP |
keratinocyte differentiation associated protein |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,487,324...35,490,464
Ensembl chr19:35,487,324...35,495,558
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G |
LGI4 |
leucine rich repeat LGI family member 4 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,124,513...35,135,059
Ensembl chr19:35,124,513...35,142,451
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G |
LIN37 |
lin-37 DREAM MuvB core complex component |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,748,576...35,754,519
Ensembl chr19:35,748,361...35,754,519
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G |
LRFN3 |
leucine rich repeat and fibronectin type III domain containing 3 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,936,374...35,946,624
Ensembl chr19:35,935,358...35,946,624
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G |
LRP3 |
LDL receptor related protein 3 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:33,194,330...33,208,864
Ensembl chr19:33,177,603...33,208,864
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G |
LSM14A |
LSM14A mRNA processing body assembly factor |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:34,172,504...34,229,288
Ensembl chr19:34,172,504...34,229,288
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G |
LSR |
lipolysis stimulated lipoprotein receptor |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,249,002...35,267,964
Ensembl chr19:35,248,330...35,267,964
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G |
MAG |
myelin associated glycoprotein |
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IAGP EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 ClinVar Annotator: match by term: Spastic paraplegia 75, autosomal recessive ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 | ClinVar Annotator: match by term: Spastic paraplegia 75, autosomal recessive CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24482476 PMID:25741868 PMID:26179919 PMID:28492532 PMID:28832565 PMID:31227335 PMID:31402626 More...
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NCBI chr19:35,292,161...35,313,807
Ensembl chr19:35,292,125...35,313,807
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G |
NFKBID |
NFKB inhibitor delta |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,887,952...35,902,303
Ensembl chr19:35,887,653...35,902,303
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G |
NPHS1 |
NPHS1 adhesion molecule, nephrin |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,825,372...35,852,504
Ensembl chr19:35,825,372...35,869,287
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G |
NUDT19 |
nudix hydrolase 19 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:32,691,821...32,713,792
Ensembl chr19:32,691,821...32,713,792
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G |
OVOL3 |
ovo like zinc finger 3 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:36,111,143...36,113,711
Ensembl chr19:36,111,143...36,113,711
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G |
PDCD2L |
programmed cell death 2 like |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:34,404,399...34,426,168
Ensembl chr19:34,404,399...34,426,168
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G |
PEPD |
peptidase D |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:33,386,950...33,521,791
Ensembl chr19:33,386,950...33,521,823
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G |
POLR2I |
RNA polymerase II subunit I |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:36,113,709...36,114,875
Ensembl chr19:36,113,709...36,115,213
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G |
PRODH2 |
proline dehydrogenase 2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,799,988...35,812,845
Ensembl chr19:35,799,988...35,813,299
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G |
PROSER3 |
proline and serine rich 3 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,758,176...35,771,166
Ensembl chr19:35,758,143...35,771,166
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G |
PSENEN |
presenilin enhancer, gamma-secretase subunit |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,745,651...35,747,519
Ensembl chr19:35,745,600...35,747,519
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G |
RBM42 |
RNA binding motif protein 42 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,629,036...35,637,685
Ensembl chr19:35,629,030...35,637,686
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G |
RGS9BP |
regulator of G protein signaling 9 binding protein |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:32,675,848...32,678,300
Ensembl chr19:32,675,848...32,678,300
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G |
RHPN2 |
rhophilin Rho GTPase binding protein 2 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:32,978,592...33,064,888
Ensembl chr19:32,978,592...33,064,888
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G |
SBSN |
suprabasin |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,523,367...35,528,311
Ensembl chr19:35,523,367...35,528,351
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G |
SCGB2B2 |
secretoglobin family 2B member 2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:34,585,529...34,677,159
Ensembl chr19:34,590,644...34,677,159
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G |
SCN1B |
sodium voltage-gated channel beta subunit 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449
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G |
SDHAF1 |
succinate dehydrogenase complex assembly factor 1 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,995,188...35,996,312
Ensembl chr19:35,995,188...35,996,312
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G |
SLC7A10 |
solute carrier family 7 member 10 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:33,208,664...33,225,850
Ensembl chr19:33,208,664...33,225,850
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G |
SLC7A9 |
solute carrier family 7 member 9 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:32,830,511...32,869,767
Ensembl chr19:32,830,509...32,869,767
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G |
SYNE4 |
spectrin repeat containing nuclear envelope family member 4 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:36,003,307...36,008,813
Ensembl chr19:36,003,307...36,008,813
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G |
TBCB |
tubulin folding cofactor B |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:36,114,967...36,125,941
Ensembl chr19:36,114,289...36,125,947
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G |
TDRD12 |
tudor domain containing 12 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:32,719,767...32,829,580
Ensembl chr19:32,719,753...32,829,580
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G |
THAP8 |
THAP domain containing 8 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:36,034,984...36,054,762
Ensembl chr19:36,034,984...36,054,739
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G |
TMEM147 |
transmembrane protein 147 |
|
IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:35,545,626...35,547,526
Ensembl chr19:35,545,600...35,547,526
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G |
TYROBP |
transmembrane immune signaling adaptor TYROBP |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
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NCBI chr19:35,904,403...35,908,295
Ensembl chr19:35,904,401...35,908,295
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U2AF1L4 |
U2 small nuclear RNA auxiliary factor 1 like 4 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
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NCBI chr19:35,742,464...35,745,418
Ensembl chr19:35,742,464...35,745,445
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G |
UBA2 |
ubiquitin like modifier activating enzyme 2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
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NCBI chr19:34,428,381...34,471,251
Ensembl chr19:34,428,352...34,471,251
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UPK1A |
uroplakin 1A |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
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NCBI chr19:35,666,517...35,678,481
Ensembl chr19:35,666,517...35,678,481
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USF2 |
upstream transcription factor 2, c-fos interacting |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
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NCBI chr19:35,268,962...35,279,821
Ensembl chr19:35,268,962...35,279,821
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G |
WDR62 |
WD repeat domain 62 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
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NCBI chr19:36,054,897...36,111,145
Ensembl chr19:36,054,649...36,105,108
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G |
WDR88 |
WD repeat domain 88 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
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NCBI chr19:33,132,114...33,175,799
Ensembl chr19:33,132,090...33,175,799
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WTIP |
WT1 interacting protein |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
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NCBI chr19:34,481,758...34,512,304
Ensembl chr19:34,481,758...34,512,304
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G |
ZBTB32 |
zinc finger and BTB domain containing 32 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
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NCBI chr19:35,704,558...35,717,038
Ensembl chr19:35,704,558...35,717,038
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G |
ZNF181 |
zinc finger protein 181 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
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NCBI chr19:34,734,243...34,745,378
Ensembl chr19:34,734,155...34,745,378
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G |
ZNF30 |
zinc finger protein 30 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
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NCBI chr19:34,923,841...34,945,168
Ensembl chr19:34,926,903...34,945,170
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ZNF302 |
zinc finger protein 302 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
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NCBI chr19:34,675,979...34,686,396
Ensembl chr19:34,677,639...34,686,397
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ZNF599 |
zinc finger protein 599 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
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NCBI chr19:34,758,073...34,807,601
Ensembl chr19:34,758,073...34,773,229
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G |
ZNF792 |
zinc finger protein 792 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 |
ClinVar |
PMID:28492532 |
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NCBI chr19:34,956,354...34,964,229
Ensembl chr19:34,956,354...34,964,229
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CAPN1 |
calpain 1 |
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IAGP EXP |
ClinVar Annotator: match by term: Autosomal recessive spastic paraplegia type 76 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:27153400 PMID:27320912 PMID:28492532 PMID:28566166 PMID:29379883 PMID:30198554 PMID:32214227 PMID:32860008 PMID:33486633 More...
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NCBI chr11:65,181,373...65,212,006
Ensembl chr11:65,180,566...65,212,006
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G |
LOC126861236 |
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:64976880-64978079 |
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IAGP |
ClinVar Annotator: match by term: Autosomal recessive spastic paraplegia type 76 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33486633 |
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NCBI chr11:65,209,409...65,210,608
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AL022097.1 |
novel transcript, antisense to FARS2 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 77 |
ClinVar |
PMID:25741868 PMID:25851414 |
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NCBI chr 6:5,664,985...5,695,272
Ensembl chr 6:5,664,985...5,695,272
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G |
FARS2 |
phenylalanyl-tRNA synthetase 2, mitochondrial |
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IAGP EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 77 ClinVar Annotator: match by term: Hereditary spastic paraplegia 77 | ClinVar Annotator: match by term: Spastic paraplegia 77, autosomal recessive CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:25741868 PMID:25851414 PMID:26553276 PMID:28492532 PMID:29126765 PMID:30177229 PMID:30869852 PMID:31665838 PMID:32007496 PMID:32989326 PMID:33168986 PMID:33972171 More...
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NCBI chr 6:5,249,934...5,771,583
Ensembl chr 6:5,261,044...5,829,192
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G |
LOC126859565 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:5368745-5369944 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 77 ClinVar Annotator: match by term: Spastic paraplegia 77, autosomal recessive |
ClinVar |
PMID:25741868 PMID:26553276 PMID:28492532 PMID:29126765 PMID:30869852 |
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NCBI chr 6:5,368,176...5,369,711
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LOC126859568 |
BRD4-independent group 4 enhancer GRCh37_chr6:5665450-5666649 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 77 |
ClinVar |
PMID:25741868 PMID:25851414 |
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NCBI chr 6:5,665,217...5,666,416
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G |
LOC129995672 |
ATAC-STARR-seq lymphoblastoid silent region 16873 |
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IAGP |
ClinVar Annotator: match by term: Spastic paraplegia 77, autosomal recessive |
ClinVar |
PMID:25741868 |
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G |
LOC129995681 |
ATAC-STARR-seq lymphoblastoid active region 23910 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 77 |
ClinVar |
PMID:25741868 PMID:25851414 |
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G |
LOC129995682 |
ATAC-STARR-seq lymphoblastoid active region 23911 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 77 |
ClinVar |
PMID:25741868 PMID:25851414 |
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LYRM4 |
LYR motif containing 4 |
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IAGP |
ClinVar Annotator: match by term: Spastic paraplegia 77, autosomal recessive |
ClinVar |
PMID:25741868 |
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NCBI chr 6:5,031,753...5,260,950
Ensembl chr 6:5,103,629...5,260,950
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ATP13A2 |
ATPase cation transporting 13A2 |
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IAGP EXP |
ClinVar Annotator: match by term: ATP13A2-related condition ClinVar Annotator: match by term: ATP13A2-related condition | ClinVar Annotator: match by term: Autosomal recessive spastic paraplegia type 78 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
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:22768177 PMID:25466404 PMID:25741868 PMID:26467025 PMID:28137957 PMID:28492532 PMID:29966207 PMID:30833663 PMID:34382491 PMID:36703223 More...
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NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928
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G |
LOC129929540 |
ATAC-STARR-seq lymphoblastoid silent region 339 |
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IAGP |
ClinVar Annotator: match by term: ATP13A2-related condition |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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G |
UCHL1 |
ubiquitin C-terminal hydrolase L1 |
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IAGP |
ClinVar Annotator: match by term: Spastic paraplegia 79A, autosomal dominant, with ataxia |
ClinVar OMIM |
PMID:25741868 PMID:28492532 PMID:35986737 PMID:37650884 |
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NCBI chr 4:41,256,928...41,268,455
Ensembl chr 4:41,256,413...41,268,455
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G |
UCHL1-DT |
UCHL1 divergent transcript |
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IAGP |
ClinVar Annotator: match by term: Spastic paraplegia 79A, autosomal dominant, with ataxia |
ClinVar |
PMID:25741868 |
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NCBI chr 4:41,220,074...41,256,727
Ensembl chr 4:41,220,074...41,256,727
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SPG7 |
SPG7 matrix AAA peptidase subunit, paraplegin |
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IAGP |
ClinVar Annotator: match by term: Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome |
ClinVar |
PMID:16199547 PMID:21623769 PMID:22964162 PMID:23065789 PMID:25741868 PMID:26467025 PMID:28492532 PMID:33598982 More...
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NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766
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G |
UCHL1 |
ubiquitin C-terminal hydrolase L1 |
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IAGP EXP |
ClinVar Annotator: match by term: Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
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 chr 4:41,256,928...41,268,455
Ensembl chr 4:41,256,413...41,268,455
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DNM1L |
dynamin 1 like |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 |
ClinVar |
PMID:25741868 |
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NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650
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G |
LOC126860498 |
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:126043836-126045035 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 | ClinVar Annotator: match by term: WASHC5-related condition |
ClinVar |
PMID:9536098 PMID:17576681 PMID:24215330 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr 8:125,031,594...125,032,793
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G |
LOC130001092 |
ATAC-STARR-seq lymphoblastoid silent region 19517 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 |
ClinVar |
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NCBI chr 8:125,091,512...125,091,681
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G |
LOC130001093 |
ATAC-STARR-seq lymphoblastoid active region 27899 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 |
ClinVar |
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NCBI chr 8:125,091,732...125,091,951
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NSD1 |
nuclear receptor binding SET domain protein 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 |
ClinVar |
PMID:25741868 |
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NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
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G |
NSMCE2 |
NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:125,091,860...125,367,120
Ensembl chr 8:125,091,679...125,367,120
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G |
SETBP1 |
SET binding protein 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510
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G |
TBK1 |
TANK binding kinase 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 |
ClinVar |
PMID:25741868 |
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NCBI chr12:64,452,120...64,502,114
Ensembl chr12:64,452,090...64,502,114
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G |
WASHC5 |
WASH complex subunit 5 |
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IAGP EXP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 | ClinVar Annotator: match by term: WASHC5-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:10797436 PMID:16199547 PMID:17160902 PMID:17576681 PMID:20301727 PMID:20833645 PMID:23085491 PMID:23455931 PMID:23881105 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:32816195 PMID:33662919 PMID:34184482 More...
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NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819
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WASHC5-AS1 |
WASHC5 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar Annotator: match by term: WASHC5-related condition ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 | ClinVar Annotator: match by term: WASHC5-related condition |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24065355 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30896870 PMID:31227335 PMID:33662919 More...
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NCBI chr 8:125,040,684...125,044,989
Ensembl chr 8:125,040,684...125,044,989
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UBAP1 |
ubiquitin associated protein 1 |
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IAGP ISS |
ClinVar Annotator: match by term: Spastic paraplegia 80, autosomal dominant | ClinVar Annotator: match by term: UBAP1-related condition OMIM:618418 |
OMIM ClinVar MouseDO |
PMID:25741868 PMID:25741869 PMID:30929741 PMID:31203368 PMID:31515522 PMID:31696996 More...
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NCBI chr 9:34,179,005...34,252,523
Ensembl chr 9:34,179,005...34,252,523
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SELENOI |
selenoprotein I |
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IAGP |
ClinVar Annotator: match by term: Spastic paraplegia 81, autosomal recessive |
OMIM ClinVar |
PMID:25741868 PMID:28052917 PMID:29500230 PMID:33454747 PMID:36942482 |
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NCBI chr 2:26,346,143...26,395,885
Ensembl chr 2:26,308,547...26,395,885
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PCYT2 |
phosphate cytidylyltransferase 2, ethanolamine |
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IAGP |
ClinVar Annotator: match by term: Spastic paraplegia 82, autosomal recessive |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31637422 PMID:32889549 PMID:33454747 |
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NCBI chr17:81,900,958...81,911,399
Ensembl chr17:81,900,958...81,911,432
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HPDL |
4-hydroxyphenylpyruvate dioxygenase like |
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IAGP |
ClinVar Annotator: match by term: Spastic paraplegia 83, autosomal recessive |
OMIM ClinVar |
PMID:25741868 PMID:32707086 PMID:33970200 |
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NCBI chr 1:45,326,895...45,328,710
Ensembl chr 1:45,326,895...45,328,710
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G |
PI4KA |
phosphatidylinositol 4-kinase alpha |
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IAGP |
ClinVar Annotator: match by term: Spastic paraplegia 84, autosomal recessive |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:34415322 |
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NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417
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G |
RNF170 |
ring finger protein 170 |
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IAGP |
ClinVar Annotator: match by term: Spastic paraplegia 85, autosomal recessive |
OMIM ClinVar |
PMID:17190954 PMID:21115467 PMID:25741868 PMID:25882839 PMID:31636353 PMID:32943585 PMID:35041108 More...
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NCBI chr 8:42,849,637...42,897,299
Ensembl chr 8:42,849,637...42,897,290
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ABHD16A |
abhydrolase domain containing 16A, phospholipase |
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IAGP |
ClinVar Annotator: match by term: Spastic paraplegia 86, autosomal recessive |
OMIM ClinVar |
PMID:25741868 PMID:34587489 PMID:34866177 |
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NCBI chr 6:31,686,955...31,703,324
Ensembl chr 6:31,686,955...31,703,356
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TMEM63C |
transmembrane protein 63C |
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IAGP |
ClinVar Annotator: match by term: Spastic paraplegia 87, autosomal recessive |
OMIM ClinVar |
PMID:35718349 |
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NCBI chr14:77,181,798...77,259,495
Ensembl chr14:77,116,568...77,259,495
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G |
KPNA3 |
karyopherin subunit alpha 3 |
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IAGP |
ClinVar Annotator: match by term: Spastic paraplegia 88, autosomal dominant |
OMIM ClinVar |
PMID:25741868 PMID:34564892 PMID:34825409 PMID:34981581 |
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NCBI chr13:49,699,320...49,792,682
Ensembl chr13:49,699,320...49,792,682
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G |
AMFR |
autocrine motility factor receptor |
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IAGP |
ClinVar Annotator: match by term: Spastic paraplegia 89, autosomal recessive |
OMIM ClinVar |
PMID:37119330 |
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NCBI chr16:56,361,452...56,425,545
Ensembl chr16:56,361,452...56,425,545
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G |
LOC130059041 |
ATAC-STARR-seq lymphoblastoid silent region 7507 |
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IAGP |
ClinVar Annotator: match by term: Spastic paraplegia 89, autosomal recessive |
ClinVar |
PMID:37119330 |
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NCBI chr16:56,424,886...56,425,945
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SPTSSA |
serine palmitoyltransferase small subunit A |
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IAGP |
ClinVar Annotator: match by term: Spastic paraplegia 90A, autosomal dominant |
ClinVar OMIM |
PMID:36718090 |
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NCBI chr14:34,432,788...34,462,240
Ensembl chr14:34,432,788...34,462,240
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G |
SPTSSA |
serine palmitoyltransferase small subunit A |
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IAGP |
ClinVar Annotator: match by term: Spastic paraplegia 90B, autosomal recessive |
OMIM ClinVar |
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NCBI chr14:34,432,788...34,462,240
Ensembl chr14:34,432,788...34,462,240
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ALDH18A1 |
aldehyde dehydrogenase 18 family member A1 |
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IAGP EXP |
DNA:mutations:cds:p.V243L, p.R252Q(human) ClinVar Annotator: match by term: Bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy | ClinVar Annotator: match by term: Hereditary spastic paraplegia 9A | ClinVar Annotator: match by term: SPASTIC PARAPARESIS WITH AMYOTROPHY, CATARACTS, AND GASTROESOPHAGEAL REFLUX ClinVar Annotator: match by term: Cataracts, motor neuronopathy, short stature and skeletal abnormalities | ClinVar Annotator: match by term: Hereditary spastic paraplegia 9A CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:8779323 PMID:9536098 PMID:9643297 PMID:9973297 PMID:16199547 PMID:17576681 PMID:21739576 PMID:24913064 PMID:25741868 PMID:26026163 PMID:26297558 PMID:26320891 PMID:26829900 PMID:28492532 PMID:28567303 PMID:28604674 PMID:29915212 PMID:32371413 PMID:37119015 PMID:26297558 More...
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RGD:11056004 |
NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711
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G |
ALDH18A1 |
aldehyde dehydrogenase 18 family member A1 |
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IAGP EXP |
ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia type 9B ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia type 9B | ClinVar Annotator: match by term: Spastic paraplegia 9b, autosomal recessive CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:9536098 PMID:9643297 PMID:17576681 PMID:25741868 PMID:26026163 PMID:26297558 PMID:26320891 PMID:28492532 PMID:29915212 PMID:32798076 PMID:36067040 PMID:37119015 More...
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NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711
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G |
ATN1 |
atrophin 1 |
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IAGP |
ClinVar Annotator: match by term: X-linked hydrocephalus syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321
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G |
L1CAM |
L1 cell adhesion molecule |
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IAGP ISS EXP |
DNA:missense mutations, deletion:cds, intron:p.H191Q, p.D598N, IVS27_3'utrdel (human) ClinVar Annotator: match by term: L1 syndrome | ClinVar Annotator: match by term: MASA syndrome | ClinVar Annotator: match by term: X-linked hydrocephalus syndrome ClinVar Annotator: match by term: L1 syndrome | ClinVar Annotator: match by term: X-linked hydrocephalus syndrome OMIM:303350 CTD Direct Evidence: marker/mechanism DNA:deletion:exon: DNA:mutation:cds:924C>T(human) |
ClinVar MouseDO CTD OMIM RGD |
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: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:25644381 PMID:25666757 PMID:25741868 PMID:25741909 PMID:26467025 PMID:26891472 PMID:28492532 PMID:30249681 PMID:30712878 PMID:31069529 PMID:31319225 PMID:31474318 PMID:31504653 PMID:31680349 PMID:32416898 PMID:32488064 PMID:34510796 PMID:7920660 PMID:8786080 PMID:9643285 More...
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RGD:6483061, RGD:11570406, RGD:11064095 |
NCBI chr X:153,861,514...153,886,173
Ensembl chr X:153,861,514...153,886,173
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L1CAM-AS1 |
L1CAM antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: X-linked hydrocephalus syndrome |
ClinVar |
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NCBI chr X:153,880,672...153,888,990
Ensembl chr X:153,880,672...153,888,990
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LOC130059847 |
ATAC-STARR-seq lymphoblastoid silent region 7932 |
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IAGP |
ClinVar Annotator: match by term: X-linked hydrocephalus syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr16:89,923,349...89,923,598
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TUBB3 |
tubulin beta 3 class III |
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IAGP |
ClinVar Annotator: match by term: X-linked hydrocephalus syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761
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SPG21 |
SPG21 abhydrolase domain containing, maspardin |
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IAGP ISS EXP |
ClinVar Annotator: match by term: Mast syndrome ClinVar Annotator: match by term: Mast syndrome | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 21, AUTOSOMAL RECESSIVE OMIM:248900 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM |
PMID:6024251 PMID:9536098 PMID:14564668 PMID:16199547 PMID:17576681 PMID:24451228 PMID:25741868 PMID:25741909 PMID:26467025 PMID:28492532 PMID:28752238 PMID:35111129 More...
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NCBI chr15:64,963,022...64,989,914
Ensembl chr15:64,963,022...64,990,310
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G |
SNAPC4 |
small nuclear RNA activating complex polypeptide 4 |
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IAGP |
ClinVar Annotator: match by term: Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction |
OMIM ClinVar |
PMID:36965478 |
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NCBI chr 9:136,375,571...136,400,170
Ensembl chr 9:136,375,567...136,400,176
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TAPBPL |
TAP binding protein like |
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IAGP |
ClinVar Annotator: match by term: Spastic ataxia 1 |
ClinVar |
PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 PMID:28492532 More...
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NCBI chr12:6,451,649...6,472,006
Ensembl chr12:6,451,690...6,466,517
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G |
VAMP1 |
vesicle associated membrane protein 1 |
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IAGP EXP |
ClinVar Annotator: match by term: Spastic ataxia 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 PMID:28492532 More...
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NCBI chr12:6,462,237...6,470,677
Ensembl chr12:6,462,237...6,470,677
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C17orf107 |
chromosome 17 open reading frame 107 |
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IAGP |
ClinVar Annotator: match by term: Spastic ataxia 2 |
ClinVar |
PMID:28492532 |
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NCBI chr17:4,899,536...4,906,715
Ensembl chr17:4,899,418...4,902,934
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CAMTA2 |
calmodulin binding transcription activator 2 |
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IAGP |
ClinVar Annotator: match by term: Spastic ataxia 2 |
ClinVar |
PMID:28492532 |
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NCBI chr17:4,967,997...4,987,675
Ensembl chr17:4,967,992...4,987,675
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CHRNE |
cholinergic receptor nicotinic epsilon subunit |
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IAGP |
ClinVar Annotator: match by term: Spastic ataxia 2 |
ClinVar |
PMID:28492532 |
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NCBI chr17:4,897,771...4,908,677
Ensembl chr17:4,897,771...4,934,438
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ENO3 |
enolase 3 |
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IAGP |
ClinVar Annotator: match by term: Spastic ataxia 2 |
ClinVar |
PMID:28492532 |
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NCBI chr17:4,948,710...4,957,129
Ensembl chr17:4,948,092...4,957,131
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GP1BA |
glycoprotein Ib platelet subunit alpha |
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IAGP |
ClinVar Annotator: match by term: Spastic ataxia 2 |
ClinVar |
PMID:28492532 |
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NCBI chr17:4,932,277...4,935,023
Ensembl chr17:4,932,277...4,935,023
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INCA1 |
inhibitor of CDK, cyclin A1 interacting protein 1 |
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IAGP |
ClinVar Annotator: match by term: Spastic ataxia 2 |
ClinVar |
PMID:28492532 |
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NCBI chr17:4,988,130...4,997,522
Ensembl chr17:4,988,130...4,997,610
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KIF1C |
kinesin family member 1C |
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IAGP EXP |
ClinVar Annotator: match by term: Spastic ataxia 2 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
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:35961316 More...
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NCBI chr17:4,997,950...5,028,401
Ensembl chr17:4,997,950...5,028,401
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KIF1C-AS1 |
KIF1C antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Spastic ataxia 2 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:28492532 |
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NCBI chr17:5,019,214...5,020,093
Ensembl chr17:5,019,214...5,020,093
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LOC126862472 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:4906716-4907915 |
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IAGP |
ClinVar Annotator: match by term: Spastic ataxia 2 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:24319291 PMID:24482476 PMID:25741868 PMID:28492532 More...
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NCBI chr17:5,003,421...5,004,620
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LOC126862473 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:4923264-4924463 |
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IAGP |
ClinVar Annotator: match by term: Spastic ataxia 2 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 |
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NCBI chr17:5,019,969...5,021,168
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PFN1 |
profilin 1 |
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IAGP |
ClinVar Annotator: match by term: Spastic ataxia 2 |
ClinVar |
PMID:28492532 |
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NCBI chr17:4,945,652...4,948,530
Ensembl chr17:4,945,652...4,949,061
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RNF167 |
ring finger protein 167 |
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IAGP |
ClinVar Annotator: match by term: Spastic ataxia 2 |
ClinVar |
PMID:28492532 |
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NCBI chr17:4,940,092...4,945,222
Ensembl chr17:4,940,008...4,945,222
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SLC25A11 |
solute carrier family 25 member 11 |
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IAGP |
ClinVar Annotator: match by term: Spastic ataxia 2 |
ClinVar |
PMID:28492532 |
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NCBI chr17:4,937,130...4,940,046
Ensembl chr17:4,937,130...4,940,053
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SPAG7 |
sperm associated antigen 7 |
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IAGP |
ClinVar Annotator: match by term: Spastic ataxia 2 |
ClinVar |
PMID:28492532 |
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NCBI chr17:4,959,226...4,967,817
Ensembl chr17:4,959,226...4,967,817
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LOC129935364 |
ATAC-STARR-seq lymphoblastoid silent region 12216 |
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IAGP |
ClinVar Annotator: match by term: Spastic ataxia 3 |
ClinVar |
PMID:22448145 |
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LOC129935366 |
ATAC-STARR-seq lymphoblastoid active region 16943 |
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IAGP |
ClinVar Annotator: match by term: Spastic ataxia 3 |
ClinVar |
PMID:25741868 |
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MARS2 |
methionyl-tRNA synthetase 2, mitochondrial |
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IAGP EXP |
ClinVar Annotator: match by term: Spastic ataxia 3 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:22448145 PMID:25741868 PMID:25741913 PMID:28492532 |
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NCBI chr 2:197,705,369...197,708,395
Ensembl chr 2:197,705,369...197,708,395
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SACS |
sacsin molecular chaperone |
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IAGP |
ClinVar Annotator: match by term: Autosomal recessive spastic ataxia |
ClinVar |
PMID:20876471 PMID:21450511 PMID:24033266 PMID:24180463 PMID:25741868 |
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NCBI chr13:23,328,830...23,433,702
Ensembl chr13:23,288,689...23,433,763
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SPTAN1 |
spectrin alpha, non-erythrocytic 1 |
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IAGP |
ClinVar Annotator: match by term: Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:35150594 PMID:36331550 |
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NCBI chr 9:128,552,587...128,633,662
Ensembl chr 9:128,552,558...128,633,662
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KIDINS220 |
kinase D interacting substrate 220 |
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IAGP |
ClinVar Annotator: match by term: Spastic paraplegia, intellectual disability, nystagmus, and obesity |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:25741909 PMID:27005418 PMID:28492532 PMID:28934391 PMID:29667355 More...
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NCBI chr 2:8,721,081...8,837,613
Ensembl chr 2:8,721,081...8,837,630
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SOD1 |
superoxide dismutase 1 |
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IAGP |
ClinVar Annotator: match by term: Spastic tetraplegia and axial hypotonia, progressive |
OMIM ClinVar |
PMID:7881433 PMID:15050437 PMID:15208263 PMID:15258228 PMID:16945901 PMID:20075587 PMID:20472325 PMID:23280792 PMID:25741868 PMID:28492532 PMID:29982983 PMID:31314961 PMID:31332433 More...
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NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
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LINC02245 |
long intergenic non-protein coding RNA 2245 |
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IAGP |
ClinVar Annotator: match by term: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly |
ClinVar |
PMID:25741868 |
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NCBI chr 2:64,901,840...64,932,447
Ensembl chr 2:64,901,840...65,056,226
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SLC1A4 |
solute carrier family 1 member 4 |
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IAGP ISS |
ClinVar Annotator: match by term: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly OMIM:616657 |
ClinVar MouseDO OMIM |
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:34174466 More...
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NCBI chr 2:64,988,479...65,023,865
Ensembl chr 2:64,988,477...65,023,865
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GRID2 |
glutamate ionotropic receptor delta type subunit 2 |
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IAGP |
ClinVar Annotator: match by term: Troyer syndrome |
ClinVar |
PMID:24122788 |
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NCBI chr 4:92,303,966...93,810,456
Ensembl chr 4:92,303,966...93,810,157
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LNCPRESS2 |
lncRNA p53 regulated and ESC associated 2 |
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IAGP |
ClinVar Annotator: match by term: Troyer syndrome |
ClinVar |
PMID:24122788 |
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NCBI chr 4:92,262,498...92,277,302
Ensembl chr 4:92,268,767...92,277,075
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LOC123477787 |
Sharpr-MPRA regulatory region 6143 |
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IAGP |
ClinVar Annotator: match by term: Troyer syndrome |
ClinVar |
PMID:24122788 |
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NCBI chr 4:92,305,498...92,305,792
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G |
LOC126807111 |
MED14-independent group 3 enhancer GRCh37_chr4:93104511-93105710 |
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IAGP |
ClinVar Annotator: match by term: Troyer syndrome |
ClinVar |
PMID:24122788 |
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NCBI chr 4:92,183,360...92,184,559
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G |
LOC130009569 |
ATAC-STARR-seq lymphoblastoid silent region 5263 |
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IAGP |
ClinVar Annotator: match by term: Troyer syndrome |
ClinVar |
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NCBI chr13:36,346,243...36,346,292
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SPART |
spartin |
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IAGP ISS EXP |
ClinVar Annotator: match by term: SPART-related condition | ClinVar Annotator: match by term: Troyer syndrome OMIM:275900 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
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 chr13:36,301,638...36,370,180
Ensembl chr13:36,301,638...36,370,180
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SPART-AS1 |
SPART antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Troyer syndrome |
ClinVar |
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NCBI chr13:36,346,431...36,369,735
Ensembl chr13:36,346,431...36,369,601
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