|
G
|
Adap2
|
ArfGAP with dual PH domains 2
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:25741868 |
|
NCBI chr10:65,635,891...65,665,019
Ensembl chr10:65,622,434...65,664,022
|
|
G
|
Add3
|
adducin 3
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:23836506 PMID:25741868 PMID:30369941 PMID:36046955 |
|
NCBI chr 1:262,152,722...262,260,504
Ensembl chr 1:262,154,996...262,260,504
|
|
G
|
Aif1
|
allograft inflammatory factor 1
|
|
IEP
|
protein:increased expression:corpus callosum (rat)
|
RGD |
PMID:19010395 |
RGD:2313028 |
NCBI chr20:3,651,435...3,657,341
Ensembl chr20:3,652,243...3,657,339
|
|
G
|
Alox5ap
|
arachidonate 5-lipoxygenase activating protein
|
|
ISO
|
DNA:SNP (human)
|
RGD |
PMID:18977990 |
RGD:2313892 |
NCBI chr12:10,785,254...10,809,295
Ensembl chr12:10,785,257...10,817,038
|
|
G
|
Arhgap31
|
Rho GTPase activating protein 31
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:25741868 |
|
NCBI chr11:75,544,176...75,657,087
Ensembl chr11:75,544,040...75,661,076
|
|
G
|
Atad5
|
ATPase family, AAA domain containing 5
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:25741868 |
|
NCBI chr10:65,568,569...65,616,379
Ensembl chr10:65,568,591...65,616,376
|
|
G
|
Brca2
|
BRCA2, DNA repair associated
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:668580 PMID:1446381 PMID:9536098 PMID:17576681 PMID:19530235 PMID:21548014 PMID:22632462 PMID:23613520 PMID:25525159 PMID:25741868 PMID:26064523 PMID:26467025 PMID:27376475 PMID:28492532 More...
|
|
NCBI chr12:4,895,092...4,939,340
Ensembl chr12:4,895,447...4,936,194
|
|
G
|
Bub1b
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:25741868 |
|
NCBI chr 3:126,017,019...126,069,470
Ensembl chr 3:126,017,045...126,069,796
|
|
G
|
Cacna1a
|
calcium voltage-gated channel subunit alpha1 A
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:25741868 |
|
NCBI chr19:40,425,560...40,724,810
Ensembl chr19:40,425,560...40,724,599
|
|
G
|
Cacna1c
|
calcium voltage-gated channel subunit alpha1 C
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 4:153,431,169...154,051,932
Ensembl chr 4:153,436,427...154,051,762
|
|
G
|
Clcn1
|
chloride voltage-gated channel 1
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:7874130 PMID:8533761 PMID:8571958 PMID:8845168 PMID:8857727 PMID:8857733 PMID:9566422 PMID:10430417 PMID:10644771 PMID:10665666 PMID:11840191 PMID:11933197 PMID:12390967 PMID:15162127 PMID:15980168 PMID:17107341 PMID:17932099 PMID:17990293 PMID:18263754 PMID:18337100 PMID:18337730 PMID:18807109 PMID:20301529 PMID:22094069 PMID:22197187 PMID:22995991 PMID:23097607 PMID:23152584 PMID:23739125 PMID:23893571 PMID:24033266 PMID:24349310 PMID:25741868 PMID:26096614 PMID:26467025 PMID:27142102 PMID:27296017 PMID:27614575 PMID:28492532 PMID:29606556 PMID:32010054 PMID:32117024 PMID:32528171 PMID:32670189 PMID:33013670 PMID:33263785 PMID:34008892 PMID:34418069 PMID:34529042 PMID:37091313 PMID:37712079 More...
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|
NCBI chr 4:72,138,739...72,168,113
Ensembl chr 4:72,139,162...72,168,128
|
|
G
|
Clcn2
|
chloride voltage-gated channel 2
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:19191339 PMID:23632988 PMID:25741868 PMID:28492532 |
|
NCBI chr11:93,702,382...93,716,059
Ensembl chr11:93,702,360...93,716,059
|
|
G
|
Col4a1
|
collagen type IV alpha 1 chain
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:25741868 |
|
NCBI chr16:84,885,597...84,996,482
Ensembl chr16:84,885,597...84,996,482
|
|
G
|
Col4a2
|
collagen type IV alpha 2 chain
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:22209246 PMID:22209247 PMID:22333902 PMID:24001601 PMID:25741868 PMID:27794444 PMID:28492532 PMID:33912663 PMID:34531397 More...
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|
NCBI chr16:84,749,672...84,885,520
Ensembl chr16:84,749,672...84,885,520
|
|
G
|
Coprs
|
coordinator of PRMT5 and differentiation stimulator
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:25741868 |
|
NCBI chr16:82,423,426...82,428,821
Ensembl chr16:82,407,580...82,431,737
|
|
G
|
Crlf3
|
cytokine receptor-like factor 3
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:25741868 |
|
NCBI chr10:65,521,296...65,559,162
Ensembl chr10:65,521,492...65,558,804
|
|
G
|
Egfr
|
epidermal growth factor receptor
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:7630400 PMID:25741868 PMID:28492532 PMID:28726809 PMID:29899996 |
|
NCBI chr14:95,378,626...95,551,358
Ensembl chr14:95,378,626...95,551,358
|
|
G
|
Evi2a
|
ecotropic viral integration site 2A
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:25741868 |
|
NCBI chr10:64,983,727...64,987,627
Ensembl chr10:64,983,705...64,999,516
|
|
G
|
Evi2b
|
ecotropic viral integration site 2B
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:25741868 |
|
NCBI chr10:64,970,659...64,972,277
Ensembl chr10:64,964,719...64,979,417
|
|
G
|
F2
|
coagulation factor II, thrombin
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:2222810 PMID:2429850 PMID:2825773 PMID:6305407 PMID:6405779 PMID:8696333 PMID:8896550 PMID:8916933 PMID:9106528 PMID:9292507 PMID:9462220 PMID:9493607 PMID:9531249 PMID:9569177 PMID:9694698 PMID:9869612 PMID:10027711 PMID:10233438 PMID:10233439 PMID:10336270 PMID:10348710 PMID:10348711 PMID:10348712 PMID:10406905 PMID:10477778 PMID:10544935 PMID:11358905 PMID:11443298 PMID:11506076 PMID:11796466 PMID:11874997 PMID:11904676 PMID:15059842 PMID:15534175 PMID:16493002 PMID:16606808 PMID:19159930 PMID:19289024 PMID:19531787 PMID:19554541 PMID:19560233 PMID:19652888 PMID:20301327 PMID:21243428 PMID:21349849 PMID:23429074 PMID:24033266 PMID:25741868 PMID:27031503 PMID:28492532 PMID:28707429 PMID:30297698 PMID:31352677 PMID:34110897 PMID:34355501 PMID:38498041 More...
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|
NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:98,051,960...98,065,246
|
|
G
|
F8
|
coagulation factor VIII
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:25741868 |
|
NCBI chr18:155,237...187,186
Ensembl chr18:155,309...186,683
|
|
G
|
Ganab
|
glucosidase II alpha subunit
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:215,222,918...215,242,808
Ensembl chr 1:215,222,995...215,243,036
|
|
G
|
Gnb1
|
G protein subunit beta 1
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:28087732 PMID:28492532 PMID:30194818 PMID:31735425 PMID:32134617 PMID:32918542 PMID:32963807 PMID:39825153 More...
|
|
NCBI chr 5:171,357,778...171,424,489
Ensembl chr 5:171,357,797...171,424,488
|
|
G
|
Gphn
|
gephyrin
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:33073849 |
|
NCBI chr 6:102,687,405...103,216,679
Ensembl chr 6:102,687,423...103,216,674
|
|
G
|
Grin2b
|
glutamate ionotropic receptor NMDA type subunit 2B
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 4:170,297,811...170,775,420
Ensembl chr 4:170,322,617...170,773,570
|
|
G
|
Htt
|
huntingtin
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:25741868 |
|
NCBI chr14:80,070,456...80,219,668
Ensembl chr14:80,070,456...80,219,668
|
|
G
|
Kidins220
|
kinase D-interacting substrate 220
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:25741868 |
|
NCBI chr 6:47,346,790...47,435,599
Ensembl chr 6:47,346,832...47,431,865
|
|
G
|
Klhl3
|
kelch-like family member 3
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:25741868 |
|
NCBI chr17:6,528,114...6,651,338
Ensembl chr17:6,528,487...6,651,338
|
|
G
|
Mfn2
|
mitofusin 2
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:25741868 |
|
NCBI chr 5:163,587,463...163,617,363
Ensembl chr 5:163,587,463...163,618,495
|
|
G
|
Mir193a
|
microRNA 193a
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:25741868 |
|
NCBI chr10:65,170,306...65,170,417
|
|
G
|
Nectin2
|
nectin cell adhesion molecule 2
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:25741868 |
|
NCBI chr 1:88,500,086...88,535,474
Ensembl chr 1:88,500,087...88,535,305
|
|
G
|
Nf1
|
neurofibromin 1
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:25741868 |
|
NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,804,266...65,034,946
|
|
G
|
Nkx2-6
|
NK2 homeobox 6
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:25741868 |
|
NCBI chr15:50,852,965...50,857,060
Ensembl chr15:50,852,646...50,857,059
|
|
G
|
Omg
|
oligodendrocyte-myelin glycoprotein
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:25741868 |
|
NCBI chr10:64,959,316...64,962,050
Ensembl chr10:64,936,145...64,962,050
|
|
G
|
Pals1
|
protein associated with LIN7 1, MAGUK p55 family member
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:33073849 |
|
NCBI chr 6:103,327,965...103,384,543
Ensembl chr 6:103,281,154...103,387,209
|
|
G
|
Pdgfrb
|
platelet derived growth factor receptor beta
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:24796542 PMID:25741868 PMID:28492532 PMID:31064749 PMID:34494111 |
|
NCBI chr18:56,770,348...56,809,228
Ensembl chr18:56,770,348...56,809,233
|
|
G
|
Piezo2
|
piezo-type mechanosensitive ion channel component 2
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:25741868 |
|
NCBI chr18:58,738,734...59,115,252
Ensembl chr18:58,738,740...59,115,215
|
|
G
|
Pmm2
|
phosphomannomutase 2
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:9140401 PMID:9497260 PMID:9781039 PMID:9792409 PMID:10386614 PMID:10527672 PMID:10700701 PMID:10854097 PMID:10922383 PMID:11058895 PMID:11134235 PMID:11156536 PMID:11409861 PMID:11517108 PMID:11530212 PMID:11589167 PMID:11916319 PMID:12244009 PMID:15520415 PMID:15844218 PMID:16540464 PMID:17166182 PMID:17451957 PMID:18948042 PMID:19357119 PMID:20301289 PMID:21228398 PMID:21541725 PMID:22975760 PMID:24424129 PMID:25333069 PMID:25355454 PMID:25741868 PMID:26014514 PMID:26488408 PMID:28373276 PMID:28492532 PMID:28940310 PMID:30061496 PMID:30740725 PMID:31474318 PMID:32581362 PMID:32860008 More...
|
|
NCBI chr10:7,468,371...7,489,574
Ensembl chr10:7,468,372...7,489,554
|
|
G
|
Pnpla4
|
patatin like phospholipase domain containing 4
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:25741868 |
|
NCBI chr X:46,200,351...46,205,517
Ensembl chr X:46,193,332...46,205,089
|
|
G
|
Pomc
|
proopiomelanocortin
|
|
ISO
|
CTD Direct Evidence: therapeutic
|
CTD |
PMID:8980841 |
|
NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:32,659,346...32,665,173
|
|
G
|
Proc
|
protein C, inactivator of coagulation factors Va and VIIIa
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:1347706 PMID:24796542 PMID:25741868 PMID:31064749 |
|
NCBI chr18:24,038,596...24,049,061
Ensembl chr18:24,038,597...24,048,964
|
|
G
|
Pudp
|
pseudouridine 5'-phosphatase
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:25741868 |
|
NCBI chr18:46,064,867...46,067,247
Ensembl chr18:46,063,292...46,067,443
|
|
G
|
Rab11fip4
|
RAB11 family interacting protein 4
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:25741868 |
|
NCBI chr10:65,048,070...65,156,086
Ensembl chr10:65,048,140...65,152,722
|
|
G
|
Rhob
|
ras homolog family member B
|
|
ISO
|
ClinVar Annotator: match by term: RHOB-related disorder
|
ClinVar |
PMID:25741868 PMID:32989326 |
|
NCBI chr 6:37,083,030...37,085,204
Ensembl chr 6:37,075,015...37,112,772
|
|
G
|
Rnaseh2b
|
ribonuclease H2, subunit B
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:10065021 PMID:16845400 PMID:17846997 PMID:18069026 PMID:18414213 PMID:18754903 PMID:19015152 PMID:19034401 PMID:19694776 PMID:20131292 PMID:21177854 PMID:21177858 PMID:22149989 PMID:23165795 PMID:24033266 PMID:25243380 PMID:25274781 PMID:25343331 PMID:25500883 PMID:25604658 PMID:25614871 PMID:25741868 PMID:26182405 PMID:26467025 PMID:26846091 PMID:26903602 PMID:27009121 PMID:28492532 PMID:28762473 PMID:29030706 PMID:29239743 PMID:29691679 PMID:30111349 PMID:30223285 PMID:30609409 PMID:30826161 PMID:31130284 PMID:31130681 PMID:31367981 PMID:31529068 PMID:31920009 PMID:31980526 PMID:32258229 PMID:32380161 PMID:32404165 PMID:33258288 PMID:33307271 PMID:33967934 PMID:34042169 PMID:36775013 PMID:37296061 More...
|
|
NCBI chr15:40,717,252...40,770,826
Ensembl chr15:40,717,232...40,770,825
|
|
G
|
Rnf135
|
ring finger protein 135
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:25741868 |
|
NCBI chr10:65,668,441...65,687,671
|
|
G
|
Samhd1
|
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
|
|
NCBI chr 3:166,179,742...166,214,448
Ensembl chr 3:166,181,588...166,214,410
|
|
G
|
Setx
|
senataxin
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:18414213 PMID:24088041 PMID:25741868 PMID:26633545 |
|
NCBI chr 3:32,825,771...32,878,740
Ensembl chr 3:32,828,412...32,878,740
|
|
G
|
Smarca4
|
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:28492532 PMID:34813034 |
|
NCBI chr 8:28,438,370...28,535,071
Ensembl chr 8:28,443,810...28,535,070
|
|
G
|
Spast
|
spastin
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:11015453 PMID:11809724 PMID:15248095 PMID:15326248 PMID:16240363 PMID:16832076 PMID:17594340 PMID:17895902 PMID:17916079 PMID:17971434 PMID:18608088 PMID:18613979 PMID:18701882 PMID:18975132 PMID:19875132 PMID:20214791 PMID:20301339 PMID:20430936 PMID:20562464 PMID:20665701 PMID:20718791 PMID:22817815 PMID:23252998 PMID:24215330 PMID:25326637 PMID:25341883 PMID:25741868 PMID:26467025 PMID:27084228 PMID:27334366 PMID:28492532 PMID:28572275 PMID:29908077 PMID:30476002 PMID:30564185 PMID:31134136 PMID:33770234 PMID:34008892 PMID:34531397 PMID:35896380 More...
|
|
NCBI chr 6:26,807,220...26,858,456
Ensembl chr 6:26,807,220...26,858,446
|
|
G
|
Sts
|
steroid sulfatase
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:25741868 |
|
NCBI chr X:46,102,524...46,110,868
Ensembl chr X:46,102,548...46,111,104
|
|
G
|
Suz12
|
SUZ12 polycomb repressive complex 2 subunit
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:25741868 |
|
NCBI chr10:65,464,948...65,510,846
Ensembl chr10:65,464,969...65,510,846
|
|
G
|
Syne2
|
spectrin repeat containing nuclear envelope protein 2
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
|
ClinVar |
PMID:25741868 |
|
NCBI chr 6:100,272,729...100,586,364
Ensembl chr 6:100,272,729...100,583,723
|
|
G
|
Tefm
|
transcription elongation factor, mitochondrial
|
|
ISO
|
ClinVar Annotator: match by term: Cerebral palsy
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ClinVar |
PMID:25741868 |
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NCBI chr10:65,617,547...65,622,042
Ensembl chr10:65,617,550...65,622,042
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G
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Ttn
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titin
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ISO
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ClinVar Annotator: match by term: Cerebral palsy
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ClinVar |
PMID:25741868 |
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NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:82,059,648...82,332,171
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G
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Tuba1a
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tubulin, alpha 1A
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ISO
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ClinVar Annotator: match by term: Cerebral palsy
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ClinVar |
PMID:24860126 PMID:25666757 PMID:25741868 PMID:28492532 PMID:30744660 PMID:32989326 More...
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NCBI chr 7:131,992,151...131,996,850
Ensembl chr 7:131,968,770...131,996,035
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G
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Tubb4a
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tubulin, beta 4A class IVa
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ISO
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ClinVar Annotator: match by term: Cerebral palsy
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ClinVar |
PMID:18851904 PMID:24526230 PMID:24850488 PMID:25085639 PMID:25326637 PMID:25741868 PMID:28275661 PMID:28492532 PMID:28973395 PMID:32581362 More...
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NCBI chr 9:2,004,836...2,012,281
Ensembl chr 9:2,004,840...2,012,286
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G
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Utp6
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UTP6 small subunit processome component
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ISO
|
ClinVar Annotator: match by term: Cerebral palsy
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ClinVar |
PMID:25741868 |
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NCBI chr10:65,395,253...65,425,928
Ensembl chr10:65,395,253...65,425,928
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G
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Apoe
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apolipoprotein E
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susceptibility
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ISO
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DNA:polymorphism:exon:
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RGD |
PMID:9214529 |
RGD:7495763 |
NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:88,481,385...88,485,855
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G
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Tardbp
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TAR DNA binding protein
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ISO
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protein:increased expression:brain
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RGD |
PMID:20720505 |
RGD:5687179 |
NCBI chr 5:164,330,452...164,348,435
Ensembl chr 5:164,334,924...164,345,204
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G
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Sec31a
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SEC31 homolog A, COPII coat complex component
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ISO
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ClinVar Annotator: match by term: Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies
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OMIM ClinVar |
PMID:25741868 PMID:30464055 |
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NCBI chr14:9,518,655...9,573,579
Ensembl chr14:9,518,648...9,573,585
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G
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Ampd1
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adenosine monophosphate deaminase 1
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ISO
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ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
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ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:193,287,219...193,308,446
Ensembl chr 2:193,287,265...193,308,443
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G
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Ap4b1
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adaptor related protein complex 4 subunit beta 1
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|
ISO
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ClinVar Annotator: match by term: AP4-related intellectual disability and spastic paraplegia | ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
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OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21440262 PMID:21620353 PMID:22290197 PMID:24700674 PMID:24781758 PMID:25167861 PMID:25693842 PMID:25741868 PMID:26350204 PMID:26544806 PMID:26637979 PMID:26795593 PMID:27625858 PMID:28492532 PMID:29193663 PMID:31915823 PMID:32166732 PMID:32895917 PMID:32964447 PMID:32979048 PMID:33594065 PMID:34983064 More...
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NCBI chr 2:194,006,926...194,018,971
Ensembl chr 2:194,006,919...194,018,968
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G
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Bcas2
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BCAS2, pre-mRNA processing factor
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
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ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:193,381,000...193,388,881
Ensembl chr 2:193,380,982...193,388,878
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G
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Bcl2l15
|
Bcl2-like 15
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
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ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:194,019,158...194,032,516
Ensembl chr 2:194,027,397...194,032,516
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G
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Capza1
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capping actin protein of muscle Z-line subunit alpha 1
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
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ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:195,008,035...195,053,100
Ensembl chr 2:195,008,039...195,053,100
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G
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Csde1
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cold shock domain containing E1
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
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ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:193,234,546...193,271,301
Ensembl chr 2:193,243,526...193,271,301
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G
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Cttnbp2nl
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CTTNBP2 N-terminal like
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
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ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:195,196,318...195,244,792
Ensembl chr 2:195,196,318...195,243,181
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G
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Dclre1b
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DNA cross-link repair 1B
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|
ISO
|
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 2:193,998,350...194,006,873
Ensembl chr 2:193,998,354...194,006,864
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G
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Dennd2c
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DENN domain containing 2C
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
|
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:193,310,822...193,378,986
Ensembl chr 2:193,335,230...193,378,978
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G
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Hipk1
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homeodomain interacting protein kinase 1
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
|
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:193,937,261...193,988,247
Ensembl chr 2:193,937,261...193,975,164
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G
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Kcnd3
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potassium voltage-gated channel subfamily D member 3
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
|
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:195,626,316...195,843,690
Ensembl chr 2:195,626,316...195,843,690
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G
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Lrig2
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leucine-rich repeats and immunoglobulin-like domains 2
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
|
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:194,635,686...194,705,014
Ensembl chr 2:194,638,182...194,700,940
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G
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Magi3
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membrane associated guanylate kinase, WW and PDZ domain containing 3
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
|
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:194,206,587...194,405,468
Ensembl chr 2:194,206,934...194,405,157
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G
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Mov10
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Mov10 RNA helicase
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
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ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:194,982,014...195,003,513
Ensembl chr 2:194,982,014...195,003,442
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G
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Nras
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NRAS proto-oncogene, GTPase
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
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ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:193,271,399...193,282,023
Ensembl chr 2:193,271,430...193,278,543
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G
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Olfml3
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olfactomedin-like 3
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
|
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:193,932,665...193,935,494
Ensembl chr 2:193,932,665...193,935,494
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G
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Phtf1
|
putative homeodomain transcription factor 1
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
|
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:194,161,343...194,249,925
Ensembl chr 2:194,161,000...194,219,530
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G
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Ppm1j
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protein phosphatase, Mg2+/Mn2+ dependent, 1J
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
|
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:194,966,854...194,972,228
Ensembl chr 2:194,966,950...194,972,227
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G
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Ptpn22
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protein tyrosine phosphatase, non-receptor type 22
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
|
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:194,055,165...194,103,209
Ensembl chr 2:194,045,746...194,103,209
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G
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Rhoc
|
ras homolog family member C
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
|
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:194,975,586...194,981,637
Ensembl chr 2:194,975,242...194,983,745
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G
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Rsbn1
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round spermatid basic protein 1
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
|
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:194,105,058...194,159,142
Ensembl chr 2:194,105,061...194,159,142
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G
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Sike1
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suppressor of IKBKE 1
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
|
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:193,206,490...193,214,321
Ensembl chr 2:193,206,490...193,217,004
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G
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Slc16a1
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solute carrier family 16 member 1
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
|
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:194,805,556...194,832,966
Ensembl chr 2:194,812,502...194,832,977
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G
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St7l
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suppression of tumorigenicity 7-like
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
|
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:195,052,939...195,122,755
Ensembl chr 2:195,052,922...195,175,857
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G
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Sycp1
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synaptonemal complex protein 1
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
|
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:192,985,164...193,145,234
Ensembl chr 2:192,984,621...193,145,421
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G
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Syt6
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synaptotagmin 6
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
|
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:193,781,051...193,840,741
Ensembl chr 2:193,781,476...193,840,741
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G
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Tafa3
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TAFA chemokine like family member 3
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
|
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:194,952,499...194,968,776
Ensembl chr 2:194,954,998...194,962,061
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G
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Trim33
|
tripartite motif-containing 33
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
|
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:193,495,743...193,588,595
Ensembl chr 2:193,500,755...193,581,156
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G
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Tshb
|
thyroid stimulating hormone subunit beta
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
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ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:192,913,171...192,918,054
Ensembl chr 2:192,913,171...192,942,984
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G
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Washc5
|
WASH complex subunit 5
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
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ClinVar |
PMID:24065355 PMID:25614869 PMID:25741868 PMID:29768361 PMID:31911435 |
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NCBI chr 7:92,773,625...92,825,532
Ensembl chr 7:92,773,625...92,825,532
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G
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Wnt2b
|
Wnt family member 2B
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47
|
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:195,142,573...195,156,945
Ensembl chr 2:195,135,176...195,157,144
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G
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Ap4e1
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adaptor related protein complex 4 subunit epsilon 1
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ISO
|
ClinVar Annotator: match by term: AP-4 deficiency syndrome
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ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:134,726,338...134,792,820
Ensembl chr 3:134,726,287...134,792,818
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G
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Ap4m1
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adaptor related protein complex 4 subunit mu 1
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ISO
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ClinVar Annotator: match by term: AP-4 deficiency syndrome | ClinVar Annotator: match by term: Hereditary spastic paraplegia 50 CTD Direct Evidence: marker/mechanism
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OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21937992 PMID:24700674 PMID:25326635 PMID:25496299 PMID:25558065 PMID:25741868 PMID:26077850 PMID:28464862 PMID:28492532 PMID:28832565 PMID:29096665 PMID:29302074 PMID:29473051 PMID:31230720 PMID:31359954 PMID:31915823 PMID:32979048 PMID:32989326 PMID:33001864 PMID:33813722 PMID:34087981 PMID:35322241 PMID:36371792 PMID:36964972 PMID:37486637 More...
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NCBI chr12:22,163,474...22,171,734
Ensembl chr12:22,163,466...22,171,731
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G
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Apoa1
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apolipoprotein A1
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 50
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ClinVar |
PMID:19559397 |
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NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:55,423,825...55,425,729
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G
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Mcm7
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minichromosome maintenance complex component 7
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ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 50
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ClinVar |
PMID:9536098 PMID:17576681 PMID:28492532 PMID:32979048 |
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NCBI chr12:22,155,921...22,163,320
Ensembl chr12:22,155,921...22,163,771
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G
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Ap4e1
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adaptor related protein complex 4 subunit epsilon 1
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 51
|
OMIM ClinVar |
PMID:18414213 PMID:20972249 PMID:21937992 PMID:23472171 PMID:25167861 PMID:25741868 PMID:26544806 PMID:28492532 PMID:32979048 More...
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NCBI chr 3:134,726,338...134,792,820
Ensembl chr 3:134,726,287...134,792,818
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G
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Sppl2a
|
signal peptide peptidase-like 2A
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 51
|
ClinVar |
PMID:20972249 |
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NCBI chr 3:134,602,684...134,646,752
Ensembl chr 3:134,605,750...134,646,752
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G
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Ap4s1
|
adaptor related protein complex 4 subunit sigma 1
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|
ISO
|
ClinVar Annotator: match by term: Hereditary spastic paraplegia 52 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE
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OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:21620353 PMID:23167973 PMID:24700674 PMID:25552650 PMID:25741868 PMID:26297806 PMID:27444738 PMID:28492532 PMID:28708303 PMID:31660686 PMID:31690835 PMID:32979048 More...
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NCBI chr 6:74,863,742...74,916,907
Ensembl chr 6:74,868,558...74,912,406
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G
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Gad1
|
glutamate decarboxylase 1
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|
ISO
|
ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
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ClinVar |
PMID:9084927 PMID:9536098 PMID:15571623 PMID:16199547 PMID:17576681 PMID:22662185 PMID:25741868 PMID:28492532 PMID:28832565 PMID:32282878 PMID:32705143 PMID:33634263 More...
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NCBI chr 3:75,777,260...75,818,099
Ensembl chr 3:75,777,534...75,818,759
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G
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Hpdl
|
4-hydroxyphenylpyruvate dioxygenase-like
|
|
ISO
|
ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
|
OMIM ClinVar |
PMID:9084927 PMID:9973289 PMID:15571623 PMID:25741868 PMID:32707086 PMID:33188300 PMID:33634263 PMID:33970200 PMID:35985664 More...
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NCBI chr 5:135,523,258...135,524,864
Ensembl chr 5:135,523,262...135,535,704
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G
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Wdr45b
|
WD repeat domain 45B
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|
ISO
|
ClinVar Annotator: match by term: Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures | ClinVar Annotator: match by term: WDR45B-related condition
|
OMIM ClinVar |
PMID:25741868 PMID:27431290 PMID:28492532 |
|
NCBI chr10:107,097,655...107,127,839
Ensembl chr10:107,097,755...107,127,831
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G
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Pqbp1
|
polyglutamine binding protein 1
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|
ISO ISS
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ClinVar Annotator: match by term: PQBP1-related condition | ClinVar Annotator: match by term: Renpenning syndrome OMIM:309500 CTD Direct Evidence: marker/mechanism
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OMIM ClinVar MouseDO CTD |
PMID:6711604 PMID:9545405 PMID:13981686 PMID:14634649 PMID:15024694 PMID:15355434 PMID:15782410 PMID:16199547 PMID:16493439 PMID:16740914 PMID:20410308 PMID:20950397 PMID:21267006 PMID:21315190 PMID:21836667 PMID:24088041 PMID:24781215 PMID:25326635 PMID:25741868 PMID:26350204 PMID:26467025 PMID:26633545 PMID:28492532 PMID:30143497 PMID:31230720 PMID:32041777 PMID:32903913 PMID:33668121 PMID:34470565 PMID:36474027 PMID:36478645 More...
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NCBI chr X:17,275,445...17,280,018
Ensembl chr X:17,275,759...17,280,016
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G
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Slc35a2
|
solute carrier family 35 member A2
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|
ISO
|
ClinVar Annotator: match by term: Renpenning syndrome
|
ClinVar |
PMID:25741868 PMID:28492532 PMID:32903913 |
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NCBI chr X:17,280,072...17,288,928
Ensembl chr X:17,280,074...17,288,613
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|
|
G
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Cbx8
|
chromobox 8
|
|
ISO
|
ClinVar Annotator: match by term: Spastic cerebral palsy
|
ClinVar |
PMID:25741868 |
|
NCBI chr10:104,793,062...104,795,500
Ensembl chr10:104,793,062...104,795,500
|
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G
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Fbxo31
|
F-box protein 31
|
|
ISO
|
ClinVar Annotator: match by term: Spastic cerebral palsy
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ClinVar |
PMID:25741868 PMID:32989326 PMID:33675180 |
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NCBI chr19:66,533,437...66,564,674
Ensembl chr19:66,533,437...66,564,674
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G
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Ifih1
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interferon induced with helicase C domain 1
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ISO
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ClinVar Annotator: match by term: Spastic diplegia
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ClinVar |
PMID:24686847 PMID:25243380 PMID:25741868 |
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NCBI chr 3:67,635,924...67,683,968
Ensembl chr 3:67,637,545...67,683,968
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G
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Zdhhc15
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zinc finger DHHC-type palmitoyltransferase 15
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ISO
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ClinVar Annotator: match by term: Spastic diplegia
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ClinVar |
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NCBI chr X:73,633,977...73,767,451
Ensembl chr X:73,639,819...73,767,508
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G
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Tars2
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threonyl-tRNA synthetase 2, mitochondrial
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ISO
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ClinVar Annotator: match by term: Spastic hemiplegia
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ClinVar |
PMID:25741868 PMID:34508595 |
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NCBI chr 2:185,982,042...185,999,155
Ensembl chr 2:185,982,086...185,999,113
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G
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Gad1
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glutamate decarboxylase 1
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ISO
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ClinVar Annotator: match by term: Cerebral palsy spastic quadriplegic
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ClinVar |
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NCBI chr 3:75,777,260...75,818,099
Ensembl chr 3:75,777,534...75,818,759
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G
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Kank1
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KN motif and ankyrin repeat domains 1
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ISO
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ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 2 | ClinVar Annotator: match by term: KANK1-related condition | ClinVar Annotator: match by term: KANK1-related disorder CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 2 | ClinVar Annotator: match by term: KANK1- Related Disorder | ClinVar Annotator: match by term: KANK1-related condition
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OMIM ClinVar CTD |
PMID:9536098 PMID:16301218 PMID:17576681 PMID:25741868 PMID:28106320 PMID:28492532 PMID:31308072 More...
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NCBI chr 1:232,381,720...232,500,834
Ensembl chr 1:232,445,658...232,500,839
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G
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Add3
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adducin 3
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ISO
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ClinVar Annotator: match by term: ADD3-related condition | ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 3
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OMIM ClinVar |
PMID:23836506 PMID:25741868 PMID:28492532 PMID:29768408 PMID:30369941 PMID:36046955 More...
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NCBI chr 1:262,152,722...262,260,504
Ensembl chr 1:262,154,996...262,260,504
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