RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: spinal cord disease
Accession: DOID:319
browse the term
Definition: Pathologic conditions which feature SPINAL CORD damage or dysfunction, including disorders involving the meninges and perimeningeal spaces surrounding the spinal cord. Traumatic injuries, vascular diseases, infections, and inflammatory/autoimmune processes may affect the spinal cord.
Synonyms: exact_synonym: Myelopathies; Myelopathy; Spinal Cord Disorder; Spinal Cord Disorders; spinal cord diseases
narrow_synonym: Degenerative myelopathy
primary_id: MESH:D013118 ; RDO:0002593
alt_id: OMIA:000263
xref: EFO:0009488 ; ICD10CM:G95.9 ; ICD9CM:336.9 ; NCI:C97110
For additional species annotation, visit the
Alliance of Genome Resources .
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ADA
adenosine deaminase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16325979
NCBI chr17:47,044,492...47,072,232
Ensembl chr17:47,044,497...47,072,245
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APP
amyloid beta precursor protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11800653
NCBI chr13:189,434,854...189,716,120
Ensembl chr13:189,435,094...189,716,056
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IL6
interleukin 6
ISO
protein:increased expression:serum
RGD
PMID:30327453
RGD:14975119
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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MTHFR
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16361298
NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820
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SOD1
superoxide dismutase 1
ISO
Degenerative myelopathy
OMIA
PMID:8143248 PMID:12592926 PMID:18196743 PMID:19188595 PMID:19276068 PMID:20732599 PMID:21628865 PMID:21848967 PMID:22105877 PMID:22542607 PMID:23328634 PMID:23707216 PMID:23839236 PMID:23990410 PMID:24069350 PMID:24450472 PMID:24524809 PMID:24662024 PMID:26401327 PMID:26432396 PMID:27185954 PMID:27387721 PMID:27838005 PMID:27917507 PMID:27941298 PMID:30273700 PMID:31182094 PMID:31336405 PMID:31914665 PMID:32219101 PMID:32742795 PMID:33196688 PMID:33494906 PMID:34166783 PMID:34316194 PMID:34544496 PMID:34830115 PMID:35364344 PMID:35804546 PMID:36615350 PMID:36848350 PMID:37106965 PMID:37156398 PMID:37179117 PMID:37480717 PMID:37520009 PMID:37582787 PMID:37606360 PMID:37730668 PMID:38081509 PMID:38109923 More...
NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729
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CCDC39
coiled-coil domain 39 molecular ruler complex subunit
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5
ClinVar
PMID:16055927 PMID:27928778 PMID:28492532
NCBI chr13:118,623,787...118,773,205
Ensembl chr13:118,626,330...118,682,281
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DNAJC19
DnaJ heat shock protein family (Hsp40) member C19
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5 | ClinVar Annotator: match by term: 3-methylglutaconic aciduria type V
OMIM ClinVar
PMID:9536098 PMID:16055927 PMID:16199547 PMID:17576681 PMID:22797137 PMID:22981120 PMID:25741868 PMID:25741914 PMID:27426421 PMID:27928778 PMID:28492532 PMID:28771251 PMID:29625556 PMID:34008892 More...
NCBI chr13:118,907,299...118,913,270
Ensembl chr13:118,902,666...118,913,270
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FXR1
FMR1 autosomal homolog 1
ISO
ClinVar Annotator: match by term: 3-methylglutaconic aciduria type 5
ClinVar
PMID:16055927 PMID:27928778 PMID:28492532
NCBI chr13:118,839,314...118,899,804
Ensembl chr13:118,839,338...118,900,136
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CHD6
chromodomain helicase DNA binding protein 6
ISO
ClinVar Annotator: match by term: Adult spinal cord ependymoma
ClinVar
NCBI chr17:44,048,056...44,265,472
Ensembl chr17:44,048,098...44,265,431
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SMN1
survival of motor neuron 1, telomeric
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy, type IV
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:21542063 PMID:24844453 PMID:25741868 PMID:26467025 PMID:27425821 PMID:28492532 PMID:31213135 More...
NCBI chr16:47,738,776...47,777,381
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ABCA7
ATP binding cassette subfamily A member 7
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar
PMID:25741868
NCBI chr 2:77,357,161...77,375,349
Ensembl chr 2:77,357,218...77,375,180
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ADARB1
adenosine deaminase RNA specific B1
ISO
mRNA:decreased expression:motor neuron:
RGD MouseDO
PMID:20372915 PMID:22226999
RGD:10755336 RGD:13432092
NCBI chr13:207,746,915...207,791,809
Ensembl chr13:207,691,174...207,791,802
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AKT1
AKT serine/threonine kinase 1
ISO
protein:increased expression:skeletal muscle
RGD
PMID:18273716
RGD:5509081
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ALS2
alsin Rho guanine nucleotide exchange factor ALS2
susceptibility
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease
RGD ClinVar
PMID:11586297 PMID:11586298 PMID:16199547 PMID:24315819 PMID:25741868 PMID:28492532 PMID:28832565 More...
RGD:1599080
NCBI chr15:105,328,717...105,401,152
Ensembl chr15:105,328,719...105,401,093
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ANG
angiogenin
no_association
ISO
DNA:missense mutation, SNPs: :p.I46V, rs11701, rs2228653 (human) ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
RGD ClinVar
PMID:17462671 PMID:25741868
RGD:6892716
NCBI chr 7:78,249,479...78,262,846
Ensembl chr 7:78,249,487...78,250,138
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ANXA11
annexin A11
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28469040 PMID:28492532 PMID:29650794 PMID:30109997 PMID:33087501 PMID:33218681 PMID:35047667 More...
NCBI chr14:81,835,205...81,879,565
Ensembl chr14:81,835,194...81,879,372
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AOX1
aldehyde oxidase 1
ISO
RGD
PMID:7570184
RGD:734575
NCBI chr15:104,157,748...104,234,533
Ensembl chr15:104,157,527...104,236,006
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APOE
apolipoprotein E
severity
ISO
DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human)
RGD
PMID:8899655
RGD:12880359
NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330
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AQP4
aquaporin 4
ISO
protein:increased expression:brainstem mRNA, protein:increased expression:spinal cord
RGD
PMID:19089902 PMID:22987392
RGD:5490153 RGD:8662893
NCBI chr 6:111,407,632...111,422,169
Ensembl chr 6:111,407,639...111,422,109
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ATG5
autophagy related 5
ISO
mRNA:increased expression:spinal cord
RGD
PMID:23851366
RGD:11561951
NCBI chr 1:72,343,950...72,520,402
Ensembl chr 1:72,270,799...72,520,396
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ATOX1
antioxidant 1 copper chaperone
disease_progression
ISO
protein:increased expression:spinal chord
RGD
PMID:19656261
RGD:13524567
NCBI chr16:71,299,321...71,314,598
Ensembl chr16:71,299,321...71,314,597
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ATXN2
ataxin 2
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar
PMID:25741868
NCBI chr14:32,656,537...32,772,082
Ensembl chr14:32,665,122...32,771,813
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BAD
BCL2 associated agonist of cell death
disease_progression
ISO
RGD
PMID:10582606
RGD:13506907
NCBI chr 2:7,831,192...7,842,864
Ensembl chr 2:7,830,920...7,842,863
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BAK1
BCL2 antagonist/killer 1
treatment
ISO
RGD
PMID:20890041
RGD:13506803
NCBI chr 7:29,808,849...29,815,345
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BAX
BCL2 associated X, apoptosis regulator
disease_progression treatment severity
ISO
RGD
PMID:10582606 PMID:20195368 PMID:20890041 PMID:21193837 PMID:24699224
RGD:13506797 RGD:13506800 RGD:13506803 RGD:13506805 RGD:13506907
NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,222,336...54,228,140
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BCL2
BCL2 apoptosis regulator
disease_progression
ISO
RGD
PMID:10582606
RGD:13506907
NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879
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BCL2L1
BCL2 like 1
treatment disease_progression
ISO
RGD
PMID:10582606 PMID:18543336
RGD:13506902 RGD:13506907
NCBI chr17:35,366,139...35,415,798
Ensembl chr17:35,366,143...35,414,694
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BECN1
beclin 1
ISO
mRNA:increased expression:spinal cord
RGD
PMID:23851366
RGD:11561951
NCBI chr12:20,041,914...20,054,249
Ensembl chr12:20,041,956...20,054,373
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BID
BH3 interacting domain death agonist
ISO
RGD
PMID:29440992
RGD:13506949
NCBI chr 5:69,849,007...69,874,647
Ensembl chr 5:69,849,002...69,875,853
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BNIP3L
BCL2 interacting protein 3 like
ISO
RGD
PMID:29440992
RGD:13506949
NCBI chr14:10,318,688...10,345,689
Ensembl chr14:10,318,732...10,345,679
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BPTF
bromodomain PHD finger transcription factor
ISO
mRNA,protein:increased expression:spinal cord:
RGD
PMID:9225734
RGD:9586057
NCBI chr12:14,112,943...14,254,810
Ensembl chr12:14,112,718...14,254,790
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C3
complement C3
ISO
RGD
PMID:19050293
RGD:5130169
NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
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C5AR1
complement C5a receptor 1
ISO
RGD
PMID:19050293
RGD:5130169
NCBI chr 6:53,097,162...53,111,563
Ensembl chr 6:53,097,142...53,111,565
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C9orf72
C9orf72-SMCR8 complex subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25442110 PMID:27713094 PMID:28122516 PMID:28478440 PMID:28973294
NCBI chr10:38,389,366...38,415,903
Ensembl chr10:38,389,331...38,415,901
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CACNA1A
calcium voltage-gated channel subunit alpha1 A
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar
PMID:25741868
NCBI chr 2:65,491,784...65,871,068
Ensembl chr 2:65,514,509...65,871,182
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CALCB
calcitonin-related polypeptide beta
ISO
RGD
PMID:21964254
RGD:5684010
NCBI chr 2:44,043,135...44,048,651
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CAMK1G
calcium/calmodulin dependent protein kinase IG
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23624525
NCBI chr 9:133,351,523...133,380,454
Ensembl chr 9:133,351,528...133,379,705
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CAPN14
calpain 14
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:108,152,053...108,191,391
Ensembl chr 3:108,152,047...108,190,047
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CASP3
caspase 3
ISO
protein:increased activity:spinal cord
RGD
PMID:16847061
RGD:2311466
NCBI chr15:45,744,320...45,753,252
Ensembl chr15:45,742,751...45,764,213
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CASP9
caspase 9
ISO
protein:increased activity:spinal cord
RGD
PMID:16847061
RGD:2311466
NCBI chr 6:74,707,597...74,730,033
Ensembl chr 6:74,706,516...74,730,007
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CCNF
cyclin F
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar
PMID:25741868
NCBI chr 3:39,585,597...39,603,088
Ensembl chr 3:39,585,607...39,603,079
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CCR2
C-C motif chemokine receptor 2
disease_progression
ISO
protein:increased expression:plasma: protein:decreased expression:monocyte:
RGD
PMID:16857270
RGD:8657363
NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,285,012...29,376,343
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CCS
copper chaperone for superoxide dismutase
treatment
ISO
RGD
PMID:26826269
RGD:13524551
NCBI chr 2:5,819,471...5,833,263
Ensembl chr 2:5,819,472...5,836,064
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CD40LG
CD40 ligand
ISO
CTD Direct Evidence: therapeutic
CTD RGD
PMID:20348957
RGD:5490547
NCBI chr X:111,778,666...111,788,901
Ensembl chr X:111,778,493...111,789,709
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CDK5
cyclin dependent kinase 5
ISO
RGD
PMID:11343650
RGD:734741
NCBI chr18:6,166,914...6,171,157
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CFAP410
cilia and flagella associated protein 410
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar
PMID:25741868
NCBI chr13:207,196,884...207,204,741
Ensembl chr13:207,196,117...207,204,719
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CHCHD10
coiled-coil-helix-coiled-coil-helix domain containing 10
ISO
ClinVar Annotator: match by term: Charcot disease
ClinVar
PMID:25576308 PMID:25741868 PMID:28492532 PMID:29540477 PMID:30014597 PMID:31690696 More...
NCBI chr14:49,921,600...49,923,529
Ensembl chr14:49,921,595...49,923,526
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CHMP2B
charged multivesicular body protein 2B
ISO
CTD Direct Evidence: marker/mechanism DNA:mutations:cds:Q206H, I29V (human)
CTD RGD
PMID:16807408
RGD:5688711
NCBI chr13:168,534,950...168,569,574
Ensembl chr13:168,533,694...168,569,688
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CHRNA3
cholinergic receptor nicotinic alpha 3 subunit
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar
PMID:25741868
NCBI chr 7:47,361,710...47,382,743
Ensembl chr 7:47,361,899...47,384,303
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CHRNA4
cholinergic receptor nicotinic alpha 4 subunit
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar
PMID:25741868 PMID:28492532 PMID:29454195 PMID:31628766
NCBI chr17:62,424,672...62,436,646
Ensembl chr17:62,423,878...62,435,728
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CHRNB4
cholinergic receptor nicotinic beta 4 subunit
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar
PMID:25741868
NCBI chr 7:47,338,819...47,359,064
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CNTF
ciliary neurotrophic factor
susceptibility
ISO
RGD
PMID:11951178
RGD:734796
NCBI chr 2:12,492,777...12,495,401
Ensembl chr 2:12,493,169...12,496,159
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CTSH
cathepsin H
ISO
mRNA, protein:increased expression:spinal cord
RGD
PMID:17583678
RGD:5686391
NCBI chr 7:48,084,882...48,106,072
Ensembl chr 7:48,083,572...48,106,072
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DAO
D-amino acid oxidase
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease
ClinVar
PMID:25741868
NCBI chr14:41,931,549...41,950,628
Ensembl chr14:41,931,541...41,950,633
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DBR1
debranching RNA lariats 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23104007
NCBI chr13:78,958,301...78,970,250
Ensembl chr13:78,958,218...78,970,137
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DCTN1
dynactin subunit 1
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to | ClinVar Annotator: match by term: Charcot disease
ClinVar
PMID:15326253 PMID:16240349 PMID:17824900 PMID:18812314 PMID:19506225 PMID:22777741 PMID:23143281 PMID:25025039 PMID:25382069 PMID:25741868 PMID:26429889 PMID:26467025 PMID:26662454 PMID:27132499 PMID:28130640 PMID:28430856 PMID:28492532 PMID:28717666 PMID:32579787 More...
NCBI chr 3:68,642,562...68,673,605
Ensembl chr 3:68,643,247...68,673,604
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DDX20
DEAD-box helicase 20
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar
PMID:25741868
NCBI chr 4:108,625,121...108,636,382
Ensembl chr 4:108,624,987...108,647,342
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DNAJC7
DnaJ heat shock protein family (Hsp40) member C7
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar
PMID:25741868
NCBI chr12:20,725,937...20,756,295
Ensembl chr12:20,725,975...20,759,000
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DNMT3A
DNA methyltransferase 3 alpha
ISO
protein:decreased expression:mitochondrion:
RGD
PMID:24399935
RGD:9589066
NCBI chr 3:113,501,972...113,609,148
Ensembl chr 3:113,528,926...113,603,087
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DPP6
dipeptidyl peptidase like 6
no_association
ISO
DNA:SNP:intron:rs10260404 (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:18084291 PMID:18708572 PMID:20137488
RGD:5687181 RGD:5687188
NCBI chr18:3,148,479...3,905,845
Ensembl chr18:3,148,483...4,054,118
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DYNC1H1
dynein cytoplasmic 1 heavy chain 1
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar
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EIF2AK2
eukaryotic translation initiation factor 2 alpha kinase 2
ISO
protein:increased expression:spinal cord
RGD
PMID:12675919
RGD:2301741
NCBI chr 3:103,041,029...103,096,741
Ensembl chr 3:103,041,221...103,096,738
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ELP3
elongator acetyltransferase complex subunit 3
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar
PMID:25741868
NCBI chr14:11,832,947...11,940,080
Ensembl chr14:11,832,962...11,940,070
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EPG5
ectopic P-granules 5 autophagy tethering factor
ISO
MouseDO
NCBI chr 1:95,493,779...95,616,794
Ensembl chr 1:95,498,720...95,616,755
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EPO
erythropoietin
disease_progression
ISO
protein:decreased expression:cerebrospinal fluid
RGD
PMID:17368721
RGD:10395391
NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936
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ERBB4
erb-b2 receptor tyrosine kinase 4
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar
PMID:25741868 PMID:28492532 PMID:29895397
NCBI chr15:113,966,573...115,096,984
Ensembl chr15:113,974,437...115,096,565
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ERCC6L2
ERCC excision repair 6 like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30879219
NCBI chr10:26,112,019...26,264,759
Ensembl chr10:26,112,028...26,241,148
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ESRRA
estrogen related receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22975021
NCBI chr 2:7,803,504...7,812,868
Ensembl chr 2:7,803,510...7,813,098
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EWSR1
EWS RNA binding protein 1
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar
PMID:25741868
NCBI chr14:46,408,636...46,439,357
Ensembl chr14:46,408,649...46,439,453
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FIG4
FIG4 phosphoinositide 5-phosphatase
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease
ClinVar
PMID:2319578 PMID:7496176 PMID:9536098 PMID:17572665 PMID:17576681 PMID:18180444 PMID:18261132 PMID:18556664 PMID:19118816 PMID:20301641 PMID:20630877 PMID:21655088 PMID:21705420 PMID:22998443 PMID:23165282 PMID:23489662 PMID:23623387 PMID:24033266 PMID:24878229 PMID:25299611 PMID:25382069 PMID:25448007 PMID:25614874 PMID:25617005 PMID:25741868 PMID:26467025 PMID:26662798 PMID:27447704 PMID:27549087 PMID:28051077 PMID:28430856 PMID:28492532 PMID:28859335 PMID:29468183 PMID:30373780 PMID:30740813 PMID:30792901 PMID:31313076 PMID:32022442 PMID:32376792 More...
NCBI chr 1:75,694,151...75,847,021
Ensembl chr 1:75,694,151...75,847,528
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FUS
FUS RNA binding protein
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:21408206 PMID:22055719 PMID:28478440 PMID:29419416 PMID:29434138 PMID:30455313 More...
RGD:5509900 RGD:9685710
NCBI chr 3:17,314,936...17,326,663
Ensembl chr 3:17,314,332...17,326,637
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GDNF
glial cell derived neurotrophic factor
ISO
mRNA:increased expression:skeletal muscle
RGD
PMID:10447463
RGD:6218978
NCBI chr16:22,936,602...22,965,929
Ensembl chr16:22,936,604...22,966,536
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GFAP
glial fibrillary acidic protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11723166
NCBI chr12:18,456,268...18,466,594
Ensembl chr12:18,456,263...18,466,592
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GJC2
gap junction protein gamma 2
ISO
protein:decreased expression:lumbar spinal cord ventral horn, oligodendrocyte (mouse)
RGD
PMID:24597481
RGD:13208591
NCBI chr 2:51,257,623...51,267,969
Ensembl chr 2:51,258,207...51,267,962
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GLE1
GLE1 RNA export mediator
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease
ClinVar
PMID:25741868 PMID:28884921
NCBI chr 1:268,894,281...268,922,752
Ensembl chr 1:268,894,276...268,922,742
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GLT8D1
glycosyltransferase 8 domain containing 1
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar
PMID:25741868
NCBI chr13:34,828,601...34,839,854
Ensembl chr13:34,828,604...34,839,794
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GOT1
glutamic-oxaloacetic transaminase 1
treatment
ISO
human protein in a rat model
RGD
PMID:26113413
RGD:13506239
NCBI chr14:110,608,422...110,635,825
Ensembl chr14:110,608,430...110,635,874
G
GRN
granulin precursor
onset disease_progression
ISO
DNA:mutations: : protein:increased expression:spinal cord, microglia
RGD
PMID:18184915 PMID:21107132
RGD:5509593 RGD:5509619
NCBI chr12:18,893,772...18,900,444
Ensembl chr12:18,893,770...18,900,446
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GSK3A
glycogen synthase kinase 3 alpha
ISO
RGD
PMID:12675919
RGD:2301741
NCBI chr 6:49,690,319...49,700,735
Ensembl chr 6:49,690,370...49,701,189
G
GSK3B
glycogen synthase kinase 3 beta
ISO
RGD
PMID:12675919
RGD:2301741
NCBI chr13:140,136,109...140,370,197
Ensembl chr13:140,136,158...140,369,569
G
GSR
glutathione-disulfide reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16681429
NCBI chr15:54,382,564...54,433,989
Ensembl chr15:54,382,567...54,433,984
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HDAC4
histone deacetylase 4
severity
ISO
RGD
PMID:23824486
RGD:9681450
NCBI chr15:138,378,237...138,657,266
Ensembl chr15:138,381,635...138,614,301
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HES1
hes family bHLH transcription factor 1
ISO
protein:increased expression:spinal chord
RGD
PMID:26067594
RGD:13524575
NCBI chr13:131,135,970...131,137,865
Ensembl chr13:131,135,725...131,138,237
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HEY1
hes related family bHLH transcription factor with YRPW motif 1
ISO
protein:increased expression:spinal chord
RGD
PMID:26067594
RGD:13524575
NCBI chr 4:56,859,640...56,863,807
Ensembl chr 4:56,859,663...56,863,788
G
HMGB1
high mobility group box 1
severity
ISO
RGD
PMID:23639787
RGD:10402056
NCBI chr11:7,195,556...7,321,071
G
HNRNPK
heterogeneous nuclear ribonucleoprotein K
ISO
protein:decreased expression:lumbar spinal cord ventral horn, astrocyte (mouse)
RGD
PMID:19323997
RGD:10058964
NCBI chr10:30,975,639...30,987,955
Ensembl chr10:30,975,702...30,987,956
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HRK
harakiri, BCL2 interacting protein
ISO
RGD
PMID:29440992
RGD:13506949
NCBI chr14:35,612,920...35,632,760
Ensembl chr14:35,613,075...35,613,350
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IGF1R
insulin like growth factor 1 receptor
onset
ISO
mRNA:decreased expression:spinal cord (rat)
RGD
PMID:18683239
RGD:12904708
NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,825...137,691,058
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IGF2R
insulin like growth factor 2 receptor
ISO
protein:increased expression:spinal cord, astrocyte
RGD
PMID:18441505
RGD:2311519
NCBI chr 1:7,369,485...7,472,480
Ensembl chr 1:7,368,103...7,472,548
G
ITIH4
inter-alpha-trypsin inhibitor heavy chain 4
disease_progression
ISO
protein:increased expression, increased processing:serum protein:increased processing:serum
RGD
PMID:23436019
RGD:40907060
NCBI chr13:34,928,455...34,948,250
Ensembl chr13:34,928,439...34,948,229
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ITPR2
inositol 1,4,5-trisphosphate receptor type 2
susceptibility
ISO
DNA:snp:intron:g.26636386A>G rs2306677 (human)
RGD
PMID:17827064
RGD:6482791
NCBI chr 5:46,935,923...47,465,681
Ensembl chr 5:46,935,932...47,464,125
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JAG1
jagged canonical Notch ligand 1
ISO
protein:increased expression:spinal chord
RGD
PMID:26067594
RGD:13524575
NCBI chr17:19,591,248...19,629,659
Ensembl chr17:19,591,259...19,629,641
G
KANK1
KN motif and ankyrin repeat domains 1
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:221,015,042...221,218,875
Ensembl chr 1:221,015,046...221,078,245
G
KCNJ10
potassium inwardly rectifying channel subfamily J member 10
ISO
protein:decreased expression:brainstem
RGD
PMID:22987392
RGD:8662893
NCBI chr 4:90,421,956...90,457,406
Ensembl chr 4:90,422,025...90,457,406
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KDR
kinase insert domain receptor
ISO
protein:decreased expression:spinal cord
RGD
PMID:16410746
RGD:1580568
NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336
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KEAP1
kelch like ECH associated protein 1
ISO
mRNA:increased expression:primary motor cortex (human)
RGD
PMID:18957896
RGD:6893397
NCBI chr 2:69,280,940...69,290,267
Ensembl chr 2:69,276,336...69,294,382
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KIF1B
kinesin family member 1B
onset
ISO
mRNA:decreased expression:precentral gyrus (human) mRNA:increased expression, decreased expression:spinal cord, sciatic nerve (mouse)
RGD
PMID:17418584 PMID:24904291
RGD:12738468 RGD:12738469
NCBI chr 6:70,495,143...70,663,464
Ensembl chr 6:70,495,144...70,661,798
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KIF5A
kinesin family member 5A
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 5:22,813,617...22,851,976
Ensembl chr 5:22,816,854...22,851,973
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LCN2
lipocalin 2
ISO
protein:increased expression:spinal cord
RGD
PMID:23431168
RGD:126781758
NCBI chr 1:268,609,975...268,614,651
Ensembl chr 1:268,609,887...268,614,644
G
LOC100739508
glutathione S-transferase P-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16109392
NCBI chr 2:5,005,498...5,009,247
G
LRRK2
leucine rich repeat kinase 2
ISO
mRNA:increased expression:skeletal muscle
RGD
PMID:21375368
RGD:5508417
NCBI chr 5:71,800,337...71,945,828
Ensembl chr 5:71,800,225...71,945,828
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MAML1
mastermind like transcriptional coactivator 1
ISO
protein:increased expression:spinal chord
RGD
PMID:26067594
RGD:13524575
NCBI chr 2:78,818,658...78,876,633
Ensembl chr 2:78,818,411...78,876,615
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MAP1LC3A
microtubule associated protein 1 light chain 3 alpha
ISO
mRNA:increased expression:spinal cord
RGD
PMID:23851366
RGD:11561951
NCBI chr17:37,957,830...37,959,505
Ensembl chr17:37,957,507...37,959,505
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MAP3K5
mitogen-activated protein kinase kinase kinase 5
ISO
protein:hyperphosphorylation:motor neuron:
RGD
PMID:15910777
RGD:10412312
NCBI chr 1:27,380,143...27,600,500
Ensembl chr 1:27,380,142...27,600,493
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MAPK14
mitogen-activated protein kinase 14
ISO
protein:hyperphosphorylation:motor neuron:
RGD
PMID:15910777
RGD:10412312
NCBI chr 7:31,791,398...31,861,544
Ensembl chr 7:31,790,877...31,862,031
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MATR3
matrin 3
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar
PMID:25741868
NCBI chr 2:141,179,515...141,230,259
Ensembl chr 2:141,179,566...141,231,015
G
MFN1
mitofusin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22975021
NCBI chr13:117,404,637...117,441,750
Ensembl chr13:117,404,699...117,442,481
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MFN2
mitofusin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22975021
NCBI chr 6:72,026,512...72,056,439
Ensembl chr 6:72,028,499...72,056,438
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MIR206
microRNA mir-206
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22975021 PMID:27538595
NCBI chr 7:45,976,293...45,976,372
Ensembl chr 7:45,976,293...45,976,372
G
MIR214
microRNA mir-214
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27538595
NCBI chr 9:114,527,992...114,528,101
Ensembl chr 9:114,527,990...114,528,101
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MIR23A
microRNA mir-23a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22975021
NCBI chr 2:65,308,117...65,308,186
Ensembl chr 2:65,308,117...65,308,186
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MIR455
microRNA mir-455
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22975021
NCBI chr 1:254,824,200...254,824,279
Ensembl chr 1:254,824,196...254,824,291
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MMP1
matrix metallopeptidase 1
ISO
protein:increased expression:serum (human)
RGD
PMID:19796283
RGD:7207054
NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076
G
MMP2
matrix metallopeptidase 2
severity
ISO
protein:increased expression:skin of body, spinal cord protein:increased expression:serum, cerebrospinal fluid (human)
RGD
PMID:19796283 PMID:20441996
RGD:13204793 RGD:7207054
NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982
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MMP9
matrix metallopeptidase 9
severity
ISO
protein:increased expression:skin of body, spinal cord protein:increased expression:serum, cerebrospinal fluid (human)
RGD
PMID:19796283 PMID:20441996
RGD:13204793 RGD:7207054
NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
G
MOBP
myelin associated oligodendrocyte basic protein
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar
PMID:25741868
NCBI chr13:24,138,078...24,186,838
G
MSTN
myostatin
ISO
RGD
PMID:16837207
RGD:2303556
NCBI chr15:94,623,526...94,628,440
Ensembl chr15:94,620,270...94,628,545
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MT-2B
metallothionein-2A
onset
ISO
mRNA:increased expression:soleus muscle, gastrocnemius muscle (mouse)
RGD
PMID:18000159
RGD:6482832
NCBI chr 6:18,645,125...18,646,034
Ensembl chr 6:18,645,153...18,646,033
G
MT3
metallothionein 3
ISO
RGD
PMID:12388585 PMID:12417341 PMID:17097207
RGD:6480495 RGD:6480625 RGD:6480627
NCBI chr 6:18,634,735...18,636,134
Ensembl chr 6:18,634,261...18,636,131
G
MTHFR
methylenetetrahydrofolate reductase
susceptibility no_association
ISO
DNA:polymorphism: :c.677C>T(human)
RGD
PMID:21128869 PMID:21868135
RGD:11565111 RGD:11565173
NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820
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MTNR1A
melatonin receptor 1A
disease_progression
ISO
protein:decreased expression:spinal chord
RGD
PMID:23537713
RGD:13524569
NCBI chr17:8,597,047...8,618,746
Ensembl chr17:8,596,911...8,617,657
G
MTREX
Mtr4 exosome RNA helicase
ISO
mRNA:increased expression:peripheral blood lymphocyte (human)
RGD
PMID:23006766
RGD:11041891
NCBI chr16:34,478,227...34,605,508
Ensembl chr16:34,478,272...34,606,096
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NEFH
neurofilament heavy chain
treatment
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
RGD ClinVar
PMID:10686419 PMID:25741868 PMID:28492532
RGD:13525000
NCBI chr14:46,559,698...46,568,686
Ensembl chr14:46,559,860...46,568,088
G
NEFL
neurofilament light chain
treatment severity disease_progression
ISO
protein:increased expression:serum (human) protein:increased expression:serum, csf
RGD
PMID:10686419 PMID:26273687 PMID:30309882
RGD:127284877 RGD:13525000 RGD:13525006
NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,991,331...8,997,112
G
NEFM
neurofilament medium chain
ISO
RGD
PMID:16006557
RGD:9698444
NCBI chr14:8,955,346...8,967,211
G
NEK1
NIMA related kinase 1
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar
PMID:25741868
NCBI chr14:20,144,631...20,332,248
Ensembl chr14:20,144,659...20,332,245
G
NFE2L2
NFE2 like bZIP transcription factor 2
treatment
ISO
CTD Direct Evidence: therapeutic mRNA, protein:decreased expression:primary motor cortex, spinal cord (human)
RGD CTD
PMID:18957896 PMID:22056419 PMID:27012417
RGD:10412690 RGD:6893397
NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,656...83,146,183
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NOS2
nitric oxide synthase 2
ISO
protein:increased expression:spinal cord (mouse)
RGD
PMID:21867702
RGD:5509065
NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146
G
NOTCH1
notch receptor 1
ISO
protein:increased expression:spinal chord
RGD
PMID:26067594
RGD:13524575
G
NRF1
nuclear respiratory factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22975021
NCBI chr18:19,008,408...19,142,678
Ensembl chr18:18,998,930...19,142,628
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NRG1
neuregulin 1
ameliorates
ISO
RGD
PMID:32032731
RGD:405295499
NCBI chr15:52,625,550...53,688,003
Ensembl chr15:52,630,679...52,839,505
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OPTN
optineurin
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532
NCBI chr10:48,532,029...48,582,952
Ensembl chr10:48,530,843...48,582,860
G
PFN1
profilin 1
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:51,962,642...51,965,570
Ensembl chr12:51,961,952...51,965,464
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PGF
placental growth factor
ISO
RGD
PMID:22119626
RGD:6483573
NCBI chr 7:98,149,510...98,162,784
Ensembl chr 7:98,148,994...98,162,741
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PLA2G4A
phospholipase A2 group IVA
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15816863
NCBI chr 9:127,853,581...128,164,825
Ensembl chr 9:127,859,051...128,162,638
G
PNPLA6
patatin like phospholipase domain containing 6
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar
PMID:25741868 PMID:28492532 PMID:32579787
NCBI chr 2:71,577,165...71,602,756
Ensembl chr 2:71,577,168...71,602,777
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PON1
paraoxonase 1
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar
PMID:25741868
NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723
G
PON2
paraoxonase 2
ISO
DNA:SNP:intron:rs11981433, association with LD block containing both PON3 and PON2
RGD
PMID:16822964
RGD:5509925
NCBI chr 9:75,027,270...75,051,441
Ensembl chr 9:75,027,097...75,051,422
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PON3
paraoxonase 3
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:74,983,040...75,017,947
Ensembl chr 9:74,991,277...75,017,942
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PPARGC1A
PPARG coactivator 1 alpha
ISO
mRNA:decreased expression:spinal cord, gastrocnemius muscle (mouse) CTD Direct Evidence: marker/mechanism human gene in mouse model mRNA:decreased expression:motor cortex, muscle (human)
RGD CTD
PMID:22102466 PMID:22975021 PMID:23147503
RGD:6484265 RGD:7242019
NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,946,992
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PPARGC1B
PPARG coactivator 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22975021
NCBI chr 2:150,823,338...150,924,871
Ensembl chr 2:150,823,373...150,919,376
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PPP1R15A
protein phosphatase 1 regulatory subunit 15A
ISO
protein:increased expression:spinal cord, astrocyte, microglia (mouse)
RGD
PMID:23118353
RGD:9999418
NCBI chr 6:54,172,038...54,175,461
Ensembl chr 6:54,172,050...54,175,463
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PRPH
peripherin
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to
ClinVar
PMID:15322088 PMID:15446584 PMID:25741868 PMID:28492532 PMID:32638105
NCBI chr 5:15,283,399...15,288,800
Ensembl chr 5:15,285,294...15,288,798
G
PSMC4
proteasome 26S subunit, ATPase 4
ISO
MouseDO
NCBI chr 6:48,406,237...48,414,470
Ensembl chr 6:48,406,376...48,416,215
G
PTGS2
prostaglandin-endoperoxide synthase 2
ISO
protein:increased expression:spinal cord, neuron, glia CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:11220737 PMID:14511332 PMID:15816863
RGD:5688235
NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884
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PTPRZ1
protein tyrosine phosphatase receptor type Z1
treatment
ISO
RGD
PMID:25113670
RGD:9590123
NCBI chr18:25,046,027...25,228,276
Ensembl chr18:25,045,742...25,168,053
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RARA
retinoic acid receptor alpha
ISO
RGD
PMID:17956549
RGD:2314289
NCBI chr12:22,047,449...22,085,759
Ensembl chr12:22,047,443...22,085,673
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RNASE4
ribonuclease A family member 4
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar
PMID:25741868
NCBI chr 7:78,244,284...78,244,931
Ensembl chr 7:78,243,691...78,244,930
G
RUNX1
RUNX family transcription factor 1
ISO
mRNA:increased expression:skeletal muscle
RGD
PMID:18000159
RGD:6482832
NCBI chr13:198,371,835...198,635,648
Ensembl chr13:198,371,837...198,638,189
G
SARM1
sterile alpha and TIR motif containing 1
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar
PMID:25741868
NCBI chr12:44,654,364...44,676,942
Ensembl chr12:44,655,811...44,676,945
G
SCFD1
sec1 family domain containing 1
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease
ClinVar
PMID:25741868
NCBI chr 7:68,694,579...68,851,055
Ensembl chr 7:68,712,773...68,851,008
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SERPINF1
serpin family F member 1
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:12067231
RGD:8554892
NCBI chr12:47,949,004...47,959,471
Ensembl chr12:47,948,510...47,959,470
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SETX
senataxin
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar
PMID:18058631 PMID:23129421 PMID:23881933 PMID:25741868 PMID:26467025 PMID:27790088 PMID:28492532 PMID:28832565 PMID:32253937 More...
NCBI chr 1:272,093,449...272,170,857
Ensembl chr 1:272,095,358...272,170,747
G
SIGMAR1
sigma non-opioid intracellular receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24885036
NCBI chr10:32,160,767...32,163,540
Ensembl chr10:32,160,822...32,164,718
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SIRT1
sirtuin 1
ISO
protein:increased expression:spinal cord (mouse)
RGD
PMID:17581637
RGD:2290573
NCBI chr14:71,091,167...71,126,351
Ensembl chr14:71,091,167...71,123,297
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SLC11A2
solute carrier family 11 member 2
onset
ISO
DNA:SNP: :rs407135 (human)
RGD
PMID:21276595
RGD:5688710
G
SLC1A2
solute carrier family 1 member 2
ISO
CTD Direct Evidence: marker/mechanism mRNA:processing errors:spinal cord, motor cortex (human)
CTD RGD
PMID:9539131 PMID:11723166
RGD:1302517
NCBI chr 2:25,603,892...25,771,840
Ensembl chr 2:25,604,950...25,848,276
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SLC31A1
solute carrier family 31 member 1
disease_progression
ISO
protein:increased expression:spinal chord
RGD
PMID:19656261
RGD:13524567
NCBI chr 1:253,868,389...253,893,135
Ensembl chr 1:253,868,332...253,894,449
G
SLC6A1
solute carrier family 6 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20132478
NCBI chr13:67,156,786...67,199,092
Ensembl chr13:67,179,765...67,197,107
G
SMARCA4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28973294
NCBI chr 2:69,717,175...69,810,301
Ensembl chr 2:69,662,238...69,810,295
G
SOD1
superoxide dismutase 1
treatment
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease
RGD ClinVar
PMID:7647793 PMID:7655469 PMID:7836951 PMID:8298637 PMID:8813280 PMID:8875253 PMID:8909456 PMID:9365366 PMID:9817920 PMID:10439968 PMID:10809943 PMID:10889018 PMID:11220750 PMID:11284995 PMID:11369193 PMID:11408340 PMID:11467054 PMID:11997070 PMID:12442272 PMID:12482932 PMID:14506936 PMID:14517684 PMID:14623191 PMID:15069187 PMID:15258228 PMID:15465081 PMID:15952898 PMID:16020530 PMID:16319027 PMID:16945901 PMID:17146286 PMID:17255946 PMID:17420412 PMID:17483589 PMID:18319614 PMID:18428003 PMID:18608106 PMID:18951903 PMID:19344917 PMID:19483195 PMID:19635794 PMID:19703565 PMID:19922148 PMID:19965850 PMID:20189984 PMID:20309572 PMID:20399791 PMID:20460594 PMID:20540686 PMID:22264771 PMID:22292843 PMID:22475618 PMID:22632444 PMID:23062701 PMID:23280792 PMID:25025039 PMID:25052939 PMID:25299611 PMID:25509359 PMID:25600987 PMID:25741868 PMID:25792239 PMID:25806427 PMID:26362407 PMID:26467025 PMID:26742954 PMID:26826269 PMID:27348463 PMID:28105640 PMID:28430856 PMID:28492532 PMID:29411640 PMID:29861044 PMID:30637102 PMID:31788332 More...
RGD:13524551
NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729
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SOD2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8866423
NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560
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SPG11
SPG11 vesicle trafficking associated, spatacsin
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease
ClinVar
PMID:18337587 PMID:19466474 PMID:22696581 PMID:23733235 PMID:24833714 PMID:25588603 PMID:25741868 PMID:26374131 PMID:26467025 PMID:27790088 PMID:27884173 PMID:27904835 PMID:28130640 PMID:28492532 PMID:31407473 PMID:33098801 PMID:33414559 PMID:35254204 PMID:36139378 More...
NCBI chr 1:126,890,464...126,998,014
Ensembl chr 1:126,902,186...127,003,397 Ensembl chr 1:126,902,186...127,003,397
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SPTLC1
serine palmitoyltransferase long chain base subunit 1
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar
PMID:25741868 PMID:28492532 PMID:33879512 PMID:34059824
NCBI chr14:3,081,964...3,138,113
Ensembl chr14:3,081,972...3,138,103
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SQSTM1
sequestosome 1
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease
ClinVar
PMID:11473345 PMID:11992264 PMID:15125799 PMID:15176995 PMID:15493999 PMID:15647816 PMID:15765181 PMID:16813535 PMID:17229007 PMID:18543015 PMID:18765443 PMID:19257822 PMID:19589897 PMID:20499339 PMID:21195346 PMID:21515589 PMID:21878516 PMID:22084127 PMID:23417734 PMID:23942205 PMID:24033266 PMID:24042580 PMID:24899140 PMID:25241215 PMID:25741868 PMID:26627873 PMID:26713335 PMID:27275741 PMID:27594680 PMID:28430856 PMID:28492532 PMID:29457785 PMID:29599744 PMID:30154079 PMID:32579787 More...
NCBI chr 2:78,752,768...78,763,998
Ensembl chr 2:78,752,771...78,763,938
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SS18L1
SS18L1 subunit of BAF chromatin remodeling complex
ISO
ClinVar Annotator: match by term: Charcot disease
ClinVar
PMID:25741868
NCBI chr17:61,571,619...61,598,104
Ensembl chr17:61,571,614...61,598,099
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STEAP2
STEAP2 metalloreductase
disease_progression
ISO
protein:increased expression:spinal chord
RGD
PMID:19656261
RGD:13524567
NCBI chr 9:70,334,785...70,365,687
Ensembl chr 9:70,349,362...70,366,767
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STMN2
stathmin 2
ISO
MouseDO
NCBI chr 4:56,952,968...57,006,744
Ensembl chr 4:56,952,978...57,006,462
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TARDBP
TAR DNA binding protein
disease_progression
ISO
CTD Direct Evidence: marker/mechanism DNA:missense mutations:cds: DNA:mutation:cds:p.M337V(human) protein:increased phosphorylation:brain DNA:mutation:cds:p.G295S(human)
RGD CTD
PMID:17023659 PMID:18309045 PMID:18372902 PMID:21167262 PMID:21651514 PMID:21752789 PMID:21998667 PMID:22879928 PMID:23104007 PMID:23891805 PMID:24019256 PMID:24252504 PMID:26980269 PMID:28122516 PMID:28478440 PMID:29419416 PMID:30157956 More...
RGD:5687134 RGD:5687137 RGD:5687157 RGD:5687158 RGD:5687173 RGD:5687192
NCBI chr 6:71,213,584...71,227,707
Ensembl chr 6:71,213,860...71,227,704
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TBK1
TANK binding kinase 1
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease
ClinVar
PMID:16199547 PMID:25741868 PMID:25803835 PMID:26476236 PMID:26581300 PMID:28492532 PMID:30033073 PMID:31244341 PMID:33245169 More...
NCBI chr 5:28,880,210...28,929,964
Ensembl chr 5:28,880,205...28,929,963
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TFAM
transcription factor A, mitochondrial
severity
ISO
RGD
PMID:22354563
RGD:6767572
NCBI chr14:92,261,713...92,279,731
Ensembl chr14:92,259,403...92,279,731
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TFR2
transferrin receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28973294
NCBI chr 3:8,554,322...8,568,774
Ensembl chr 3:8,539,320...8,578,763
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TNF
tumor necrosis factor
ISO
protein:increased expression:spinal cord
RGD
PMID:13678668
RGD:12904653
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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TNFRSF21
TNF receptor superfamily member 21
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24113175
NCBI chr 7:42,020,219...42,091,521
Ensembl chr 7:42,020,227...42,091,448
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TNIP1
TNFAIP3 interacting protein 1
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar
PMID:25741868
NCBI chr16:71,926,038...71,979,969
Ensembl chr16:71,926,133...71,979,966
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TP53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17434459
NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818
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TRPM7
transient receptor potential cation channel subfamily M member 7
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to
ClinVar
PMID:16051700 PMID:19405049 PMID:25741868
NCBI chr 1:121,146,093...121,250,227
Ensembl chr 1:121,146,117...121,250,224
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TUBA4A
tubulin alpha 4a
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis
ClinVar
PMID:25741868
NCBI chr15:121,290,149...121,294,048
Ensembl chr15:121,288,957...121,294,853
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TXNRD1
thioredoxin reductase 1
susceptibility
ISO
DNA:SNPs:intron:rs6539137, rs4630362 (human)
RGD
PMID:18996185
RGD:5685032
NCBI chr 5:80,170,334...80,213,889
Ensembl chr 5:80,172,260...80,236,219
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UBB
ubiquitin B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22994484
NCBI chr12:59,171,258...59,172,841
Ensembl chr12:59,171,289...59,172,841
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UBQLN2
ubiquilin 2
ISO
ClinVar Annotator: match by term: Lou Gehrig disease
ClinVar
PMID:21857683 PMID:25333069 PMID:25616961 PMID:25741868 PMID:26075709 PMID:28492532 More...
NCBI chr X:48,948,062...48,951,392
Ensembl chr X:48,948,389...48,950,263
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UNC13A
unc-13 homolog A
no_association
ISO
DNA:SNP:intron:rs12608932 (human) ClinVar Annotator: match by term: Charcot disease
RGD ClinVar
PMID:20385924 PMID:25741868 PMID:27790088
RGD:5686382
NCBI chr 2:60,057,926...60,130,015
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VAPB
VAMP associated protein B and C
ISO
DNA:missense mutation:cds:p.P56S (human)
RGD
PMID:15372378
RGD:5688230
NCBI chr17:58,594,749...58,644,925
Ensembl chr17:58,594,749...58,644,914
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VCP
valosin containing protein
ISO
ClinVar Annotator: match by term: Charcot disease
ClinVar
PMID:15034582 PMID:18845250 PMID:20604808 PMID:22270372 PMID:22909335 PMID:23333620 PMID:25617006 PMID:25741868 PMID:28492532 PMID:33144514 More...
NCBI chr 1:235,854,532...235,869,712
Ensembl chr 1:235,851,206...235,869,634
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VDR
vitamin D receptor
susceptibility
ISO
DNA:SNP:intron:rs7975232(human)
RGD
PMID:26190642
RGD:11560790
NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475
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VEGFA
vascular endothelial growth factor A
ISO
RGD
PMID:16410746
RGD:1580568
NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
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ZNF106
zinc finger protein 106
ISO
MouseDO
NCBI chr 1:128,893,965...128,957,334
Ensembl chr 1:128,893,971...128,957,305
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ATP5PO
ATP synthase peripheral stalk subunit OSCP
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:197,509,331...197,519,530
Ensembl chr13:197,509,331...197,519,588
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BCL2L1
BCL2 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr17:35,366,139...35,415,798
Ensembl chr17:35,366,143...35,414,694
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BSG
basigin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr 2:77,735,586...77,743,451
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CALB2
calbindin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr 6:14,392,220...14,420,663
Ensembl chr 6:14,391,857...14,420,663
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CASP1
caspase 1, apoptosis-related cysteine peptidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr 9:35,188,066...35,199,364
Ensembl chr 9:35,186,420...35,200,328
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CBR3
carbonyl reductase 3
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:199,830,690...199,840,444
Ensembl chr13:199,830,668...199,840,442
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CD68
CD68 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr12:52,874,754...52,877,256
Ensembl chr12:52,874,785...52,877,695
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CD7
CD7 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr12:740,345...744,876
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CFAP298
cilia and flagella associated protein 298
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:196,210,006...196,225,395
Ensembl chr13:196,210,011...196,224,923
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CHAF1B
chromatin assembly factor 1 subunit B
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:200,048,096...200,074,902
Ensembl chr13:200,048,149...200,072,556
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CLDN14
claudin 14
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:200,121,796...200,201,712
Ensembl chr13:200,128,477...200,145,525
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CLIC6
chloride intracellular channel 6
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:198,250,702...198,303,830
Ensembl chr13:198,251,119...198,303,857
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CLU
clusterin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr14:11,336,585...11,352,569
Ensembl chr14:11,336,595...11,349,764
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CNTF
ciliary neurotrophic factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11951178
NCBI chr 2:12,492,777...12,495,401
Ensembl chr 2:12,493,169...12,496,159
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CREBBP
CREB binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,224
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CRYZL1
crystallin zeta like 1
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:197,204,473...197,248,848
Ensembl chr13:197,203,842...197,248,421
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CST3
cystatin C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr17:30,471,056...30,474,486
Ensembl chr17:30,470,855...30,474,590
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CTSD
cathepsin D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr 2:1,188,548...1,197,642
Ensembl chr 2:1,188,549...1,197,643
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DBX1
developing brain homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr 2:39,229,392...39,234,304
Ensembl chr 2:39,229,356...39,234,969
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DCTN1
dynactin subunit 1
ISO
ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar OMIM
PMID:9536098 PMID:12062019 PMID:12627231 PMID:15326253 PMID:16199547 PMID:16240349 PMID:16505168 PMID:17576681 PMID:17824900 PMID:18094236 PMID:18364389 PMID:18812314 PMID:18852346 PMID:19136952 PMID:19279216 PMID:19506225 PMID:22777741 PMID:23143281 PMID:23881933 PMID:23985322 PMID:24343258 PMID:24484619 PMID:24627108 PMID:24881494 PMID:25025039 PMID:25109764 PMID:25299611 PMID:25382069 PMID:25558820 PMID:25590979 PMID:25635128 PMID:25741868 PMID:26392352 PMID:26429889 PMID:26467025 PMID:26662454 PMID:26742954 PMID:27132499 PMID:27573046 PMID:28130640 PMID:28166811 PMID:28251916 PMID:28430856 PMID:28492532 PMID:28518168 PMID:28625595 PMID:28709720 PMID:28717666 PMID:28792508 PMID:29089398 PMID:29339765 PMID:29525180 PMID:29738522 PMID:30373780 PMID:31788332 PMID:31996268 PMID:32023010 PMID:32028661 PMID:32325477 PMID:32397312 PMID:32402491 PMID:32461654 PMID:32579787 PMID:32712562 PMID:32717578 PMID:32843152 PMID:33369814 PMID:33408239 PMID:33443672 PMID:33601107 PMID:33973882 PMID:35047667 PMID:35586532 PMID:35873773 More...
NCBI chr 3:68,642,562...68,673,605
Ensembl chr 3:68,643,247...68,673,604
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DNAJC28
DnaJ heat shock protein family (Hsp40) member C28
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:197,104,842...197,114,693
Ensembl chr13:197,108,383...197,114,455
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DONSON
DNA replication fork stabilization factor DONSON
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:197,192,661...197,204,243
Ensembl chr13:197,193,658...197,203,932
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DOP1B
DOP1 leucine zipper like protein B
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:199,848,022...199,982,484
Ensembl chr13:199,848,044...199,982,512
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DYRK1A
dual specificity tyrosine phosphorylation regulated kinase 1A
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:201,008,506...201,159,946
Ensembl chr13:201,009,480...201,159,948
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EPCIP
exosomal polycystin 1 interacting protein
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:196,387,380...196,404,856
Ensembl chr13:196,387,383...196,404,714
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EVA1C
eva-1 homolog C
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:196,067,643...196,172,673
Ensembl chr13:196,067,669...196,173,198
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FANCG
FA complementation group G
ISO
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant
ClinVar
PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 PMID:28492532 More...
NCBI chr 1:235,871,073...235,879,604
Ensembl chr 1:235,871,075...235,877,974
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FGF6
fibroblast growth factor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr 5:65,975,807...65,990,035
Ensembl chr 5:65,975,838...65,990,029
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FIG4
FIG4 phosphoinositide 5-phosphatase
ISO
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant
ClinVar
NCBI chr 1:75,694,151...75,847,021
Ensembl chr 1:75,694,151...75,847,528
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FMO1
flavin containing dimethylaniline monoxygenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17127561
NCBI chr 9:63,860,957...63,895,086
Ensembl chr 9:63,868,064...63,895,076
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FOLH1B
folate hydrolase 1B
treatment
ISO
RGD
PMID:12876198
RGD:737756
NCBI chr 9:22,903,997...22,960,648
Ensembl chr 9:22,903,979...22,963,472
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FOS
Fos proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr 7:98,449,508...98,451,971
Ensembl chr 7:98,449,349...98,455,554
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FUS
FUS RNA binding protein
ISO
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant
ClinVar
PMID:28492532
NCBI chr 3:17,314,936...17,326,663
Ensembl chr 3:17,314,332...17,326,637
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GABRA1
gamma-aminobutyric acid type A receptor subunit alpha1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr16:61,656,583...61,723,428
Ensembl chr16:61,656,590...61,723,448
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GART
phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:197,130,898...197,158,797
Ensembl chr13:197,130,904...197,161,891
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GBX2
gastrulation brain homeobox 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr15:136,029,393...136,032,568
Ensembl chr15:136,029,070...136,032,316
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GDI1
GDP dissociation inhibitor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr X:124,960,835...124,966,833
Ensembl chr X:124,960,990...124,966,832
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GFAP
glial fibrillary acidic protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr12:18,456,268...18,466,594
Ensembl chr12:18,456,263...18,466,592
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GRIA3
glutamate ionotropic receptor AMPA type subunit 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15264227
NCBI chr X:100,827,293...101,109,213
Ensembl chr X:100,827,461...101,109,207
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GSX2
GS homeobox 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr 8:40,880,093...40,883,928
Ensembl chr 8:40,881,552...40,883,995
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HLCS
holocarboxylase synthetase
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:200,406,395...200,618,967
Ensembl chr13:200,405,064...200,607,748
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HSF1
heat shock transcription factor 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24256636
NCBI chr 4:463,531...486,483
Ensembl chr 4:463,393...486,473
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HUNK
hormonally up-regulated Neu-associated kinase
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:195,528,526...195,666,685
Ensembl chr13:195,528,739...195,663,902
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IFNAR1
interferon alpha and beta receptor subunit 1
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:196,925,731...196,951,398
Ensembl chr13:196,925,734...196,952,239
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IFNAR2
interferon alpha and beta receptor subunit 2
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:196,765,915...196,852,640
Ensembl chr13:196,766,087...196,852,635
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IFNGR2
interferon gamma receptor 2
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:197,007,303...197,035,604
Ensembl chr13:197,007,303...197,035,604
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IL10RB
interleukin 10 receptor subunit beta
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:196,853,606...196,884,237
Ensembl chr13:196,853,467...196,884,928
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INA
internexin neuronal intermediate filament protein alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr14:114,227,998...114,240,566
Ensembl chr14:114,227,993...114,240,558
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ITSN1
intersectin 1
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:197,301,515...197,492,537
Ensembl chr13:197,249,061...197,481,245
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JAK3
Janus kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr 2:59,905,901...59,926,504
Ensembl chr 2:59,905,919...59,926,495
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JUND
JunD proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr 2:59,530,991...59,532,846
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KCNE1
potassium voltage-gated channel subfamily E regulatory subunit 1
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:198,051,281...198,059,444
Ensembl chr13:198,051,282...198,059,296
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KCNE2
potassium voltage-gated channel subfamily E regulatory subunit 2
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:197,979,749...197,980,974
Ensembl chr13:197,980,145...197,980,516
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KCNJ6
potassium inwardly rectifying channel subfamily J member 6
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:201,231,803...201,525,943
Ensembl chr13:201,243,609...201,525,820
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KIF3C
kinesin family member 3C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr 3:112,963,424...113,014,632
Ensembl chr 3:112,966,804...113,014,624
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KIF5A
kinesin family member 5A
ISO
mRNA:increased expression:frontal cortex, cerebellum, spinal cord (mouse)
RGD
PMID:23006449
RGD:12798528
NCBI chr 5:22,813,617...22,851,976
Ensembl chr 5:22,816,854...22,851,973
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KIF5C
kinesin family member 5C
ISO
mRNA:increased expression:frontal cortex, cerebellum (mouse)
RGD
PMID:23006449
RGD:12798528
NCBI chr15:3,190,341...3,361,470
Ensembl chr15:3,190,343...3,361,410
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LAT
linker for activation of T cells
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr 3:18,638,992...18,644,353
Ensembl chr 3:18,639,151...18,644,348
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LDLR
low density lipoprotein receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr 2:69,828,348...69,864,823
Ensembl chr 2:69,828,332...69,864,827
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LOC110256483
carbonyl reductase [NADPH] 1-like
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:199,713,741...199,719,535
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MASP2
MBL associated serine protease 2
ISO
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant
ClinVar
PMID:24033266 PMID:28492532
NCBI chr 6:71,224,637...71,243,041
Ensembl chr 6:71,224,637...71,243,874
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MIS18A
MIS18 kinetochore protein A
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:195,912,044...195,928,309
Ensembl chr13:195,911,299...195,928,292
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MORC3
MORC family CW-type zinc finger 3
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:199,996,944...200,039,411
Ensembl chr13:199,997,156...200,041,236
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MRAP
melanocortin 2 receptor accessory protein
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:195,950,949...195,973,501
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MRPS6
mitochondrial ribosomal protein S6
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:197,687,906...197,756,773
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NEFH
neurofilament heavy chain
susceptibility
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 | ClinVar Annotator: match by term: NEFH-related condition
ClinVar OMIM
PMID:25741868 PMID:28492532 PMID:28749476 PMID:29411640 PMID:29650794 PMID:35047667 More...
NCBI chr14:46,559,698...46,568,686
Ensembl chr14:46,559,860...46,568,088
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OLIG1
oligodendrocyte transcription factor 1
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:196,644,065...196,646,406
Ensembl chr13:196,644,059...196,646,403
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OLIG2
oligodendrocyte transcription factor 2
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:196,596,838...196,602,197
Ensembl chr13:196,599,822...196,600,793
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OTOG
otogelin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr 2:41,497,201...41,590,564
Ensembl chr 2:41,497,200...41,584,948
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PAXBP1
PAX3 and PAX7 binding protein 1
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:196,336,952...196,371,258
Ensembl chr13:196,336,959...196,371,174
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PDGFA
platelet derived growth factor subunit A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr 3:296,399...322,967
Ensembl chr 3:301,584...321,712
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PENK
proenkephalin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr 4:75,525,497...75,530,403
Ensembl chr 4:75,525,555...75,530,876
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PIGP
phosphatidylinositol glycan anchor biosynthesis class P
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:200,686,716...200,695,537
Ensembl chr13:200,686,666...200,695,320
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PON1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17204329
NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723
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PRPH
peripherin
susceptibility
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar OMIM
PMID:25741868
NCBI chr 5:15,283,399...15,288,800
Ensembl chr 5:15,285,294...15,288,798
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RCAN1
regulator of calcineurin 1
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:198,106,256...198,205,727
Ensembl chr13:198,102,098...198,205,629
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RIPPLY3
ripply transcriptional repressor 3
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:200,642,802...200,652,401
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RUNX1
RUNX family transcription factor 1
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:198,371,835...198,635,648
Ensembl chr13:198,371,837...198,638,189
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RXRA
retinoid X receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr 1:273,698,842...273,797,622
Ensembl chr 1:273,705,505...273,797,620
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SCAF4
SR-related CTD associated factor 4
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:25741868 PMID:28492532
NCBI chr13:195,335,178...195,396,246
Ensembl chr13:195,333,260...195,396,204
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SELPLG
selectin P ligand
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr14:42,158,694...42,178,044
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SETD4
SET domain containing 4
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:199,564,048...199,589,924
Ensembl chr13:199,564,050...199,588,710
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SETX
senataxin
ISO
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant
ClinVar
PMID:23757202 PMID:25741868 PMID:28492532
NCBI chr 1:272,093,449...272,170,857
Ensembl chr 1:272,095,358...272,170,747
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SHC1
SHC adaptor protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr 4:94,818,226...94,831,766
Ensembl chr 4:94,810,875...94,831,765
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SIM2
SIM bHLH transcription factor 2
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:200,354,963...200,408,890
Ensembl chr13:200,355,407...200,403,247
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SIX2
SIX homeobox 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr 3:95,460,046...95,463,428
Ensembl chr 3:95,459,945...95,463,251
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SLC5A3
solute carrier family 5 member 3
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:197,688,632...197,723,323
Ensembl chr13:197,711,679...197,718,695
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SMIM11
small integral membrane protein 11
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:197,985,268...197,998,289
Ensembl chr13:197,985,464...197,998,282
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SNAI1
snail family transcriptional repressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr17:51,546,446...51,552,498
Ensembl chr17:51,546,477...51,552,499
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SOD1
superoxide dismutase 1
ISO
ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 1, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
OMIM ClinVar
PMID:1248932 PMID:1259395 PMID:1463506 PMID:2517465 PMID:7496169 PMID:7501156 PMID:7635196 PMID:7643359 PMID:7647793 PMID:7655469 PMID:7655471 PMID:7673954 PMID:7755363 PMID:7795609 PMID:7836951 PMID:7870076 PMID:7881433 PMID:7887412 PMID:7891072 PMID:7911198 PMID:7951249 PMID:7951252 PMID:7985500 PMID:7997024 PMID:8004110 PMID:8058797 PMID:8069312 PMID:8105280 PMID:8179602 PMID:8298637 PMID:8351519 PMID:8446170 PMID:8528216 PMID:8560268 PMID:8572658 PMID:8650157 PMID:8682505 PMID:8813280 PMID:8830861 PMID:8875253 PMID:8891072 PMID:8900247 PMID:8907321 PMID:8909456 PMID:8938700 PMID:8971099 PMID:8990014 PMID:9008494 PMID:9029070 PMID:9052802 PMID:9065559 PMID:9101297 PMID:9131652 PMID:9228005 PMID:9365366 PMID:9409355 PMID:9455977 PMID:9455983 PMID:9462467 PMID:9506558 PMID:9536098 PMID:9556377 PMID:9706719 PMID:9743498 PMID:9817920 PMID:9857958 PMID:10321246 PMID:10400992 PMID:10430435 PMID:10439968 PMID:10540008 PMID:10593307 PMID:10624810 PMID:10732812 PMID:10735277 PMID:10809943 PMID:10889018 PMID:11220750 PMID:11284995 PMID:11304046 PMID:11346368 PMID:11369193 PMID:11408340 PMID:11464950 PMID:11467054 PMID:11602336 PMID:11676987 PMID:11854285 PMID:11951178 PMID:11997070 PMID:12039658 PMID:12165567 PMID:12210393 PMID:12215228 PMID:12358759 PMID:12402272 PMID:12424972 PMID:12442272 PMID:12482932 PMID:12729761 PMID:12732844 PMID:12783432 PMID:12792143 PMID:12963370 PMID:13129803 PMID:13129804 PMID:13804989 PMID:14506936 PMID:14517684 PMID:14623191 PMID:14658402 PMID:14755739 PMID:14759637 PMID:14875225 PMID:14970233 PMID:15050437 PMID:15056757 PMID:15069187 PMID:15208263 PMID:15235802 PMID:15258228 PMID:15465081 PMID:15579468 PMID:15634772 PMID:15952898 PMID:15987780 PMID:16020530 PMID:16035108 PMID:16038516 PMID:16291929 PMID:16319027 PMID:16423367 PMID:16435343 PMID:16476815 PMID:16674979 PMID:16793335 PMID:16945901 PMID:16952453 PMID:16963403 PMID:17146286 PMID:17237124 PMID:17255946 PMID:17257622 PMID:17299743 PMID:17319283 PMID:17333220 PMID:17394531 PMID:17420412 PMID:17453632 PMID:17483589 PMID:17486090 PMID:17513298 PMID:17543992 PMID:17576681 PMID:17888947 PMID:18055113 PMID:18273717 PMID:18301754 PMID:18319614 PMID:18428003 PMID:18504130 PMID:18608106 PMID:18666828 PMID:18669821 PMID:18703498 PMID:18852346 PMID:18951903 PMID:19000626 PMID:19063897 PMID:19074999 PMID:19091752 PMID:19165329 PMID:19176896 PMID:19196430 PMID:19259395 PMID:19332692 PMID:19344917 PMID:19363716 PMID:19483195 PMID:19488901 PMID:19618436 PMID:19635794 PMID:19703565 PMID:19800308 PMID:19815002 PMID:19847927 PMID:19922144 PMID:19922148 PMID:19965850 PMID:20075587 PMID:20079423 PMID:20184515 PMID:20184521 PMID:20184893 PMID:20189984 PMID:20309572 PMID:20385392 PMID:20399791 PMID:20404329 PMID:20404910 PMID:20460594 PMID:20472325 PMID:20515040 PMID:20540686 PMID:20562451 PMID:20577002 PMID:21073275 PMID:21120636 PMID:21226712 PMID:21257910 PMID:21329474 PMID:21506602 PMID:21549128 PMID:21549454 PMID:21574856 PMID:21603025 PMID:21651514 PMID:21700707 PMID:21700728 PMID:21755517 PMID:21901496 PMID:22049684 PMID:22094223 PMID:22244934 PMID:22264771 PMID:22292843 PMID:22332887 PMID:22475618 PMID:22499346 PMID:22595972 PMID:22632444 PMID:22632445 PMID:22647583 PMID:22670878 PMID:22722621 PMID:22941224 PMID:22985433 PMID:23062701 PMID:23100398 PMID:23118898 PMID:23182243 PMID:23264618 PMID:23280792 PMID:23286750 PMID:23290792 PMID:23291526 PMID:23447461 PMID:23512985 PMID:23541756 PMID:23726301 PMID:23744890 PMID:23773010 PMID:23792044 PMID:23837654 PMID:23853506 PMID:23869403 PMID:23872456 PMID:23873540 PMID:23898858 PMID:23949607 PMID:23962495 PMID:24094577 PMID:24134191 PMID:24283690 PMID:24312616 PMID:24325798 PMID:24369116 PMID:24439480 PMID:24472010 PMID:24769475 PMID:24908169 PMID:24971881 PMID:25025039 PMID:25052939 PMID:25109764 PMID:25174650 PMID:25178511 PMID:25299611 PMID:25382069 PMID:25509359 PMID:25572957 PMID:25578810 PMID:25585530 PMID:25600987 PMID:25623562 PMID:25681989 PMID:25729540 PMID:25741868 PMID:25792239 PMID:25806427 PMID:26069299 PMID:26084641 PMID:26362407 PMID:26467025 PMID:26551617 PMID:26601740 PMID:26622980 PMID:26733601 PMID:26742954 PMID:26791423 PMID:26843957 PMID:27090969 PMID:27154192 PMID:27257061 PMID:27261500 PMID:27348463 PMID:27470954 PMID:27604643 PMID:27884173 PMID:27974499 PMID:27978769 PMID:28035186 PMID:28089114 PMID:28105640 PMID:28222900 PMID:28291249 PMID:28430856 PMID:28492532 PMID:28620717 PMID:28709720 PMID:29149916 PMID:29411640 PMID:29540513 PMID:29564924 PMID:29650794 PMID:29861044 PMID:29895397 PMID:29982983 PMID:30029678 PMID:30626575 PMID:30637102 PMID:30887850 PMID:31086828 PMID:31134679 PMID:31170830 PMID:31781168 PMID:31788332 PMID:32166880 PMID:32174179 PMID:32397312 PMID:32579787 PMID:32619288 PMID:32672072 PMID:32729724 PMID:32729725 PMID:32948071 PMID:32951934 PMID:32987860 PMID:33381076 PMID:33408239 PMID:33479441 PMID:33618928 PMID:33785574 PMID:34404558 PMID:34518333 PMID:34721532 PMID:34839512 PMID:35076740 PMID:35154965 PMID:35260199 More...
NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729
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SOD2
superoxide dismutase 2
ISO
OMIM:105400
MouseDO
NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560
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SON
SON DNA and RNA binding protein
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:197,162,075...197,193,417
Ensembl chr13:197,162,116...197,194,078
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SYNJ1
synaptojanin 1
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:196,230,101...196,330,512
Ensembl chr13:196,230,104...196,330,384
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TARDBP
TAR DNA binding protein
ISO
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant
ClinVar
PMID:19411082 PMID:20082726 PMID:20675015 PMID:20708823 PMID:22575358 PMID:24033266 PMID:26467025 PMID:28492532 More...
NCBI chr 6:71,213,584...71,227,707
Ensembl chr 6:71,213,860...71,227,704
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TIAM1
TIAM Rac1 associated GEF 1
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:194,774,495...195,235,750
Ensembl chr13:194,774,497...195,005,089
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TLE3
TLE family member 3, transcriptional corepressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr 1:167,808,508...167,855,913
Ensembl chr 1:167,808,510...167,855,911
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TMEM50B
transmembrane protein 50B
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:197,048,285...197,093,308
Ensembl chr13:197,046,682...197,093,241
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TMSB4X
thymosin beta 4 X-linked
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr X:9,649,516...9,651,662
Ensembl chr X:9,650,179...9,651,661
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TNF
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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TTC3
tetratricopeptide repeat domain 3
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:200,695,624...200,821,920
Ensembl chr13:200,707,866...200,812,436
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UBQLN2
ubiquilin 2
ISO
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant
ClinVar
PMID:19377476 PMID:22560112 PMID:23138764 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr X:48,948,062...48,951,392
Ensembl chr X:48,948,389...48,950,263
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UNC13A
unc-13 homolog A
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:25741868
NCBI chr 2:60,057,926...60,130,015
G
URB1
URB1 ribosome biogenesis homolog
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:195,974,790...196,047,882
Ensembl chr13:195,974,790...196,047,863
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VAPB
VAMP associated protein B and C
ISO
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant
ClinVar
NCBI chr17:58,594,749...58,644,925
Ensembl chr17:58,594,749...58,644,914
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VCP
valosin containing protein
ISO
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Dominant | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 PMID:28492532 More...
NCBI chr 1:235,854,532...235,869,712
Ensembl chr 1:235,851,206...235,869,634
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VEGFA
vascular endothelial growth factor A
ISO
OMIM:105400
MouseDO
NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
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VIM
vimentin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr10:43,516,441...43,526,172
Ensembl chr10:43,517,307...43,526,170
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VPS26C
VPS26 endosomal protein sorting factor C
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1
ClinVar
PMID:17237124 PMID:23512985 PMID:28492532
NCBI chr13:200,869,161...200,927,004
Ensembl chr13:200,869,167...200,926,108
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VPS54
VPS54 subunit of GARP complex
ISO
OMIM:105400
MouseDO
NCBI chr 3:77,856,093...77,978,194
Ensembl chr 3:77,856,138...77,975,429
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WNT7A
Wnt family member 7A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr13:70,538,802...70,602,464
Ensembl chr13:70,538,894...70,602,454
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XIAP
X-linked inhibitor of apoptosis
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11796754
NCBI chr X:101,399,374...101,440,021
Ensembl chr X:101,399,812...101,440,013
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ANG
angiogenin
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10
ClinVar
PMID:17703939 PMID:18087731 PMID:22190368 PMID:25741868 PMID:28492532
NCBI chr 7:78,249,479...78,262,846
Ensembl chr 7:78,249,487...78,250,138
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ERBB4
erb-b2 receptor tyrosine kinase 4
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10
ClinVar
PMID:25741868 PMID:28492532
NCBI chr15:113,966,573...115,096,984
Ensembl chr15:113,974,437...115,096,565
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GRN
granulin precursor
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10
ClinVar
PMID:16862116 PMID:16950801 PMID:17698705 PMID:22608501 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr12:18,893,772...18,900,444
Ensembl chr12:18,893,770...18,900,446
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MASP2
MBL associated serine protease 2
ISO
ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
ClinVar
NCBI chr 6:71,224,637...71,243,041
Ensembl chr 6:71,224,637...71,243,874
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OPTN
optineurin
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10
ClinVar
PMID:20428114 PMID:21802176 PMID:21852022 PMID:25741868 PMID:26203661 PMID:28492532 More...
NCBI chr10:48,532,029...48,582,952
Ensembl chr10:48,530,843...48,582,860
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PRPH
peripherin
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10
ClinVar
PMID:25741868
NCBI chr 5:15,283,399...15,288,800
Ensembl chr 5:15,285,294...15,288,798
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RNASE4
ribonuclease A family member 4
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10
ClinVar
PMID:17703939 PMID:18087731 PMID:22190368 PMID:25741868 PMID:28492532
NCBI chr 7:78,244,284...78,244,931
Ensembl chr 7:78,243,691...78,244,930
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SOD1
superoxide dismutase 1
ISO
ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
ClinVar
PMID:7891072 PMID:8351519 PMID:8446170 PMID:9008494 PMID:9029070 PMID:11464950 PMID:11467054 PMID:12729761 PMID:12732844 PMID:12963370 PMID:14506936 PMID:14658402 PMID:15634772 PMID:17319283 PMID:19483195 PMID:20079423 PMID:20184515 PMID:21257910 PMID:21506602 PMID:21700707 PMID:21901496 PMID:22292843 PMID:22332887 PMID:22647583 PMID:23280792 PMID:23291526 PMID:23447461 PMID:23837654 PMID:24369116 PMID:24472010 PMID:25578810 PMID:25741868 PMID:26362407 PMID:26467025 PMID:26742954 PMID:26791423 PMID:28105640 PMID:28291249 PMID:28492532 More...
NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729
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TARDBP
TAR DNA binding protein
ISO
ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10 | ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED | ClinVar Annotator: match by term: TARDBP-related condition
OMIM ClinVar
PMID:18068872 PMID:18288693 PMID:18309045 PMID:18372902 PMID:18396105 PMID:18438952 PMID:18505686 PMID:18545701 PMID:18779421 PMID:18802454 PMID:18931000 PMID:19204172 PMID:19224587 PMID:19228676 PMID:19236453 PMID:19350673 PMID:19411082 PMID:19429692 PMID:19465477 PMID:19515851 PMID:19609911 PMID:19618195 PMID:19655382 PMID:19695877 PMID:19714537 PMID:19760257 PMID:19786775 PMID:19808791 PMID:19833869 PMID:19864663 PMID:19864664 PMID:19959528 PMID:20031275 PMID:20082726 PMID:20154440 PMID:20301761 PMID:20472325 PMID:20555136 PMID:20558945 PMID:20577002 PMID:20600671 PMID:20624952 PMID:20645878 PMID:20675015 PMID:20697052 PMID:20708823 PMID:20806063 PMID:20959352 PMID:21123567 PMID:21173160 PMID:21220647 PMID:21403029 PMID:21438137 PMID:21651514 PMID:21666678 PMID:21752789 PMID:21829392 PMID:21830990 PMID:21857683 PMID:21943958 PMID:22121224 PMID:22406069 PMID:22456481 PMID:22539580 PMID:22563080 PMID:22575358 PMID:22645277 PMID:22722621 PMID:23100398 PMID:23231971 PMID:23235148 PMID:23327806 PMID:23345247 PMID:23356346 PMID:23401527 PMID:23457265 PMID:23692129 PMID:23721326 PMID:23827948 PMID:23881933 PMID:24117534 PMID:24143176 PMID:24237396 PMID:24440310 PMID:24477737 PMID:24507191 PMID:25090004 PMID:25138285 PMID:25375143 PMID:25382069 PMID:25408367 PMID:25442115 PMID:25588603 PMID:25681989 PMID:25741868 PMID:25792239 PMID:25913742 PMID:26096467 PMID:26467025 PMID:26581115 PMID:26777436 PMID:26883171 PMID:27348499 PMID:27570075 PMID:28089114 PMID:28286471 PMID:28334913 PMID:28335005 PMID:28430856 PMID:28444446 PMID:28487370 PMID:28492532 PMID:28573484 PMID:28705014 PMID:28709720 PMID:28889094 PMID:29091718 PMID:29411640 PMID:29419416 PMID:29525180 PMID:29621978 PMID:29630989 PMID:29650794 PMID:29801890 PMID:29895397 PMID:30324134 PMID:30442180 PMID:30461104 PMID:30553531 PMID:30586030 PMID:30720798 PMID:30773994 PMID:31124595 PMID:31852254 PMID:31866807 PMID:31964415 PMID:31996268 PMID:32166880 PMID:32253937 PMID:32409511 PMID:32462798 PMID:32579787 PMID:32843152 PMID:32951934 PMID:33159016 PMID:33301444 PMID:33479441 PMID:33589474 PMID:33770234 PMID:34130995 PMID:34162492 PMID:34333853 PMID:35239007 PMID:35932023 PMID:36247987 PMID:36732882 More...
NCBI chr 6:71,213,584...71,227,707
Ensembl chr 6:71,213,860...71,227,704
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TUBA4A
tubulin alpha 4a
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10
ClinVar
PMID:25741868
NCBI chr15:121,290,149...121,294,048
Ensembl chr15:121,288,957...121,294,853
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FIG4
FIG4 phosphoinositide 5-phosphatase
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 11
OMIM ClinVar
PMID:9536098 PMID:17572665 PMID:17576681 PMID:18180444 PMID:18261132 PMID:18556664 PMID:19118816 PMID:20301641 PMID:20630877 PMID:21655088 PMID:21705420 PMID:22998443 PMID:23165282 PMID:23336365 PMID:23489662 PMID:23623387 PMID:24033266 PMID:24878229 PMID:25382069 PMID:25448007 PMID:25614874 PMID:25617005 PMID:25741868 PMID:26467025 PMID:26662798 PMID:26742954 PMID:27447704 PMID:27549087 PMID:28051077 PMID:28430856 PMID:28492532 PMID:28859335 PMID:29342275 PMID:29468183 PMID:29518270 PMID:29650794 PMID:30373780 PMID:30740813 PMID:30792901 PMID:31313076 PMID:32022442 PMID:32376792 PMID:32385536 PMID:33502061 PMID:34426522 More...
NCBI chr 1:75,694,151...75,847,021
Ensembl chr 1:75,694,151...75,847,528
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OPTN
optineurin
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12
OMIM ClinVar
PMID:11834836 PMID:11978762 PMID:12208142 PMID:12789137 PMID:12939304 PMID:14597044 PMID:15226658 PMID:15312511 PMID:15326130 PMID:15370540 PMID:15547491 PMID:15557444 PMID:15761120 PMID:16148883 PMID:16199547 PMID:16205626 PMID:16358725 PMID:16619239 PMID:16885925 PMID:17122126 PMID:17293779 PMID:17359525 PMID:17389490 PMID:17615537 PMID:19096531 PMID:19145250 PMID:19172505 PMID:19672125 PMID:20428114 PMID:20671613 PMID:20981092 PMID:21074290 PMID:21217154 PMID:21220178 PMID:21550138 PMID:21613650 PMID:21852022 PMID:22402017 PMID:22708870 PMID:22722621 PMID:22892313 PMID:22995991 PMID:23062601 PMID:24683533 PMID:25333069 PMID:25681989 PMID:25741868 PMID:25741905 PMID:25943890 PMID:26467025 PMID:26503823 PMID:26566915 PMID:26740678 PMID:27485216 PMID:28492532 PMID:29411640 PMID:29525178 PMID:29650794 PMID:30519240 PMID:30739198 PMID:31108397 PMID:31198474 PMID:31838784 PMID:32028661 PMID:32579787 PMID:32893042 PMID:35896380 More...
NCBI chr10:48,532,029...48,582,952
Ensembl chr10:48,530,843...48,582,860
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UBQLN2
ubiquilin 2
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 15
OMIM ClinVar
PMID:19377476 PMID:21857683 PMID:22560112 PMID:22892309 PMID:23138764 PMID:23312802 PMID:24215460 PMID:24771548 PMID:25333069 PMID:25398946 PMID:25616961 PMID:25741868 PMID:26075709 PMID:26467025 PMID:28492532 PMID:28716533 PMID:30348461 PMID:34273246 PMID:35896380 More...
NCBI chr X:48,948,062...48,951,392
Ensembl chr X:48,948,389...48,950,263
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SIGMAR1
sigma non-opioid intracellular receptor 1
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 16
OMIM ClinVar
PMID:21842496 PMID:24088041 PMID:25175561 PMID:25704016 PMID:25741868 PMID:26205306 PMID:26633545 PMID:27042935 PMID:27402882 PMID:27629094 PMID:27821430 PMID:28492532 PMID:28622300 PMID:28708278 PMID:30079398 PMID:31511340 PMID:31696229 PMID:32055286 PMID:32579787 PMID:33020464 PMID:33618928 More...
NCBI chr10:32,160,767...32,163,540
Ensembl chr10:32,160,822...32,164,718
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PFN1
profilin 1
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 18 | ClinVar Annotator: match by term: PFN1-related condition
OMIM ClinVar
PMID:22801503 PMID:24309268 PMID:25741868 PMID:26908597 PMID:28492532 PMID:31346562 PMID:31991009 PMID:32392277 PMID:32589291 More...
NCBI chr12:51,962,642...51,965,570
Ensembl chr12:51,961,952...51,965,464
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ERBB4
erb-b2 receptor tyrosine kinase 4
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 19 | ClinVar Annotator: match by term: ERBB4-related condition
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:24119685 PMID:25741868 PMID:28492532 PMID:28889094 PMID:29895397 PMID:32579787 PMID:33589474 PMID:35426263 PMID:35896380 More...
NCBI chr15:113,966,573...115,096,984
Ensembl chr15:113,974,437...115,096,565
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HNRNPA1
heterogeneous nuclear ribonucleoprotein A1
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 20
OMIM ClinVar
PMID:23455423 PMID:25741868
NCBI chr 5:19,485,033...19,491,418
Ensembl chr 5:19,485,096...19,491,417
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MATR3
matrin 3
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 21 | ClinVar Annotator: match by term: Myopathy, distal, 2
OMIM ClinVar
PMID:9536098 PMID:9837826 PMID:17576681 PMID:19344878 PMID:24686783 PMID:25154462 PMID:25185957 PMID:25677933 PMID:25741868 PMID:25771394 PMID:25952333 PMID:26467025 PMID:26493020 PMID:26528920 PMID:26780671 PMID:28029397 PMID:28492532 PMID:29109432 PMID:30015619 PMID:30563574 PMID:31019288 PMID:32028661 More...
NCBI chr 2:141,179,515...141,230,259
Ensembl chr 2:141,179,566...141,231,015
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TUBA4A
tubulin alpha 4a
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 22 with frontotemporal dementia | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 22
OMIM ClinVar
PMID:25374358 PMID:25741868
NCBI chr15:121,290,149...121,294,048
Ensembl chr15:121,288,957...121,294,853
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ANXA11
annexin A11
ISO
ClinVar Annotator: match by term: ANXA11-related condition | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 23
OMIM ClinVar
PMID:25741868 PMID:28469040 PMID:28492532 PMID:29650794 PMID:29845112 PMID:30109997 PMID:33087501 PMID:33218681 PMID:34048612 PMID:35047667 PMID:35260199 More...
NCBI chr14:81,835,205...81,879,565
Ensembl chr14:81,835,194...81,879,372
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NEK1
NIMA related kinase 1
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to, 24
ClinVar OMIM
PMID:21211617 PMID:22499340 PMID:24033266 PMID:25741868 PMID:26945885 PMID:27455347 PMID:28089114 PMID:28123176 PMID:28492532 PMID:28935222 PMID:29068549 PMID:30408610 More...
NCBI chr14:20,144,631...20,332,248
Ensembl chr14:20,144,659...20,332,245
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KIF5A
kinesin family member 5A
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to, 25 | ClinVar Annotator: match by term: KIF5A-related amyotrophic lateral sclerosis
ClinVar OMIM
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29342275 PMID:29566793 PMID:29954873 PMID:32815063 More...
NCBI chr 5:22,813,617...22,851,976
Ensembl chr 5:22,816,854...22,851,973
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TIA1
TIA1 cytotoxic granule associated RNA binding protein
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia
OMIM ClinVar
PMID:28492532 PMID:28817800 PMID:29216908 PMID:29886022 PMID:36112647
NCBI chr 3:72,240,535...72,281,811
Ensembl chr 3:72,240,600...72,277,296
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LRP12
LDL receptor related protein 12
ISO
OMIM
NCBI chr 4:32,701,830...32,783,391
Ensembl chr 4:32,701,835...32,783,390
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FUS
FUS RNA binding protein
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 6, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6
OMIM ClinVar
PMID:9536098 PMID:12840784 PMID:12858291 PMID:16199547 PMID:17576681 PMID:19251627 PMID:19251628 PMID:19450904 PMID:19741215 PMID:19741216 PMID:19861302 PMID:20018407 PMID:20124201 PMID:20138404 PMID:20142531 PMID:20224596 PMID:20232451 PMID:20385912 PMID:20472325 PMID:20544928 PMID:20577002 PMID:20579074 PMID:20598774 PMID:20606625 PMID:20621307 PMID:20655970 PMID:20660363 PMID:20668259 PMID:20668261 PMID:20674093 PMID:20699327 PMID:21109527 PMID:21128870 PMID:21158017 PMID:21261515 PMID:21280085 PMID:21487023 PMID:21604077 PMID:21881207 PMID:21907581 PMID:21943958 PMID:21949354 PMID:21965298 PMID:22055719 PMID:22292843 PMID:22340366 PMID:22722621 PMID:22863194 PMID:22980027 PMID:23046859 PMID:23056579 PMID:23085990 PMID:23217123 PMID:23257289 PMID:23474818 PMID:23545117 PMID:23577159 PMID:23731953 PMID:23834335 PMID:23834483 PMID:23881933 PMID:24033266 PMID:24036913 PMID:24080306 PMID:24204307 PMID:24262168 PMID:24280224 PMID:24439481 PMID:24575823 PMID:24738488 PMID:24899262 PMID:24908169 PMID:25173930 PMID:25274782 PMID:25289647 PMID:25324524 PMID:25382069 PMID:25457557 PMID:25525159 PMID:25558820 PMID:25585530 PMID:25625564 PMID:25631824 PMID:25681989 PMID:25741868 PMID:26251528 PMID:26452761 PMID:26467025 PMID:26500017 PMID:26601740 PMID:26725112 PMID:26788680 PMID:26795035 PMID:27123482 PMID:27604643 PMID:28273913 PMID:28288521 PMID:28429524 PMID:28430856 PMID:28492532 PMID:28642336 PMID:29525178 PMID:29547565 PMID:30279455 PMID:30349096 PMID:30455313 PMID:30507891 PMID:30747709 PMID:30879340 PMID:31069529 PMID:31475037 PMID:31630970 PMID:31682085 PMID:31692161 PMID:32038460 PMID:32116048 PMID:32638105 PMID:32951934 PMID:33082139 PMID:33159016 PMID:34518945 More...
NCBI chr 3:17,314,936...17,326,663
Ensembl chr 3:17,314,332...17,326,637
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VCP
valosin containing protein
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6
ClinVar
PMID:30103325
NCBI chr 1:235,854,532...235,869,712
Ensembl chr 1:235,851,206...235,869,634
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VAPB
VAMP associated protein B and C
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8
OMIM ClinVar
PMID:9536098 PMID:15372378 PMID:16187141 PMID:16967488 PMID:17576681 PMID:17804640 PMID:18322265 PMID:18677189 PMID:19183264 PMID:20008544 PMID:20377183 PMID:20447143 PMID:20577002 PMID:20940299 PMID:21275991 PMID:21685205 PMID:21933185 PMID:22131369 PMID:22258555 PMID:22454507 PMID:22878164 PMID:23333387 PMID:23446633 PMID:23771029 PMID:23971766 PMID:24212516 PMID:24326187 PMID:24681403 PMID:24792378 PMID:25741868 PMID:26362251 PMID:26467025 PMID:26566915 PMID:27978769 PMID:28492532 PMID:35896380 More...
NCBI chr17:58,594,749...58,644,925
Ensembl chr17:58,594,749...58,644,914
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ANG
angiogenin
ISO
ClinVar Annotator: match by term: ANG-related condition | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 9
OMIM ClinVar
PMID:16501576 PMID:17462671 PMID:17703939 PMID:17886298 PMID:17900154 PMID:18087731 PMID:18852347 PMID:19153377 PMID:19363631 PMID:19444281 PMID:19449021 PMID:19488901 PMID:20577002 PMID:21621297 PMID:22190368 PMID:22292843 PMID:22384259 PMID:22499346 PMID:22522484 PMID:22645277 PMID:22722621 PMID:23047679 PMID:23155438 PMID:23393617 PMID:23447461 PMID:23463871 PMID:23665167 PMID:25382069 PMID:25741868 PMID:26255299 PMID:26467025 PMID:26551617 PMID:26777436 PMID:28444446 PMID:28492532 PMID:29525178 PMID:30188356 PMID:31368019 PMID:31432357 PMID:32111867 PMID:32579787 PMID:32951934 More...
NCBI chr 7:78,249,479...78,262,846
Ensembl chr 7:78,249,487...78,250,138
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RNASE4
ribonuclease A family member 4
ISO
ClinVar Annotator: match by term: ANG-related condition | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 9
ClinVar
PMID:16501576 PMID:17462671 PMID:17703939 PMID:17886298 PMID:17900154 PMID:18087731 PMID:18852347 PMID:19153377 PMID:19363631 PMID:19444281 PMID:19449021 PMID:19488901 PMID:20577002 PMID:21621297 PMID:22190368 PMID:22292843 PMID:22384259 PMID:22499346 PMID:22522484 PMID:22645277 PMID:22722621 PMID:23047679 PMID:23155438 PMID:23393617 PMID:23447461 PMID:23463871 PMID:23665167 PMID:25382069 PMID:25741868 PMID:26255299 PMID:26467025 PMID:26551617 PMID:26777436 PMID:28444446 PMID:28492532 PMID:29525178 PMID:30188356 PMID:31368019 PMID:31432357 PMID:32111867 PMID:32579787 PMID:32951934 More...
NCBI chr 7:78,244,284...78,244,931
Ensembl chr 7:78,243,691...78,244,930
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ALS2
alsin Rho guanine nucleotide exchange factor ALS2
ISO
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive
ClinVar
PMID:25741868 PMID:28492532
NCBI chr15:105,328,717...105,401,152
Ensembl chr15:105,328,719...105,401,093
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OPTN
optineurin
ISO
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis, Recessive
ClinVar
NCBI chr10:48,532,029...48,582,952
Ensembl chr10:48,530,843...48,582,860
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PARK7
Parkinsonism associated deglycase
ISO
ClinVar Annotator: match by term: Guam disease
ClinVar
PMID:25741868
NCBI chr 6:68,629,327...68,645,147
Ensembl chr 6:68,629,214...68,645,516
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TRPM7
transient receptor potential cation channel subfamily M member 7
susceptibility no_association
ISO
ClinVar Annotator: match by term: Guam disease DNA:mutation:cds: p.T1482I (human)
OMIM ClinVar RGD
PMID:19405049 PMID:25741868 PMID:28492532
RGD:5685008
NCBI chr 1:121,146,093...121,250,227
Ensembl chr 1:121,146,117...121,250,224
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AASDHPPT
aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:35,903,902...35,948,573
Ensembl chr 9:35,839,917...35,948,575
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ACAT1
acetyl-CoA acetyltransferase 1
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:36,525,266...36,545,634
Ensembl chr 9:36,525,261...36,545,633
G
ADA2
adenosine deaminase 2
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia
ClinVar
PMID:25741868 PMID:27884168 PMID:28492532
NCBI chr 5:69,526,413...69,554,640
Ensembl chr 5:69,526,435...69,554,661
G
ALG9
ALG9 alpha-1,2-mannosyltransferase
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:39,519,217...39,620,098
Ensembl chr 9:39,527,883...39,619,892
G
ALKBH8
alkB homolog 8, tRNA methyltransferase
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:36,077,004...36,119,936
Ensembl chr 9:36,077,192...36,119,920
G
AMOTL1
angiomotin like 1
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:26,811,872...26,978,107
Ensembl chr 9:26,864,312...26,973,552
G
ANGPTL5
angiopoietin like 5
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:32,610,041...32,627,337
Ensembl chr 9:32,610,297...32,627,337
G
ANKRD49
ankyrin repeat domain 49
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:26,634,616...26,642,520
Ensembl chr 9:26,634,708...26,642,512
G
ARHGAP20
Rho GTPase activating protein 20
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:38,471,049...38,582,221
Ensembl chr 9:38,474,865...38,582,242
G
ARHGAP42
Rho GTPase activating protein 42
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:31,720,586...31,999,730
Ensembl chr 9:31,720,849...31,994,581
G
ATM
ATM serine/threonine kinase
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome
ClinVar OMIM
PMID:100011 PMID:133608 PMID:581456 PMID:622825 PMID:623656 PMID:988733 PMID:1065243 PMID:1098053 PMID:1160401 PMID:1300551 PMID:1632451 PMID:1739330 PMID:1739584 PMID:1849795 PMID:1943118 PMID:1953577 PMID:2166257 PMID:2491181 PMID:2557216 PMID:2675381 PMID:2677459 PMID:3149931 PMID:3217261 PMID:3280694 PMID:3338800 PMID:3347199 PMID:3638722 PMID:4012663 PMID:6504056 PMID:7792600 PMID:8321536 PMID:8659541 PMID:8665503 PMID:8698354 PMID:8755819 PMID:8755918 PMID:8789452 PMID:8797579 PMID:8808599 PMID:8845835 PMID:8923007 PMID:8968760 PMID:9000145 PMID:9043869 PMID:9054948 PMID:9121450 PMID:9150358 PMID:9244351 PMID:9259193 PMID:9288106 PMID:9334731 PMID:9443866 PMID:9450874 PMID:9450906 PMID:9463314 PMID:9488043 PMID:9497252 PMID:9536098 PMID:9537233 PMID:9600235 PMID:9622061 PMID:9682216 PMID:9711876 PMID:9733514 PMID:9764584 PMID:9792409 PMID:9792410 PMID:9872980 PMID:9887333 PMID:9892178 PMID:10023947 PMID:10234507 PMID:10330348 PMID:10397742 PMID:10416970 PMID:10425038 PMID:10464642 PMID:10534763 PMID:10677309 PMID:10706620 PMID:10738255 PMID:10767628 PMID:10817650 PMID:10864201 PMID:10873394 PMID:10980530 PMID:11054065 PMID:11078475 PMID:11173867 PMID:11298136 PMID:11382771 PMID:11443540 PMID:11468183 PMID:11505391 PMID:11516106 PMID:11526498 PMID:11606401 PMID:11746755 PMID:11756177 PMID:11756185 PMID:11805335 PMID:11821961 PMID:11826028 PMID:11830610 PMID:11839094 PMID:11849780 PMID:11857346 PMID:11889466 PMID:11897820 PMID:11897822 PMID:11996792 PMID:12072552 PMID:12072877 PMID:12091354 PMID:12105990 PMID:12149228 PMID:12195425 PMID:12362033 PMID:12400598 PMID:12473176 PMID:12473594 PMID:12497634 PMID:12511424 PMID:12552559 PMID:12552566 PMID:12637545 PMID:12646636 PMID:12655570 PMID:12673794 PMID:12673797 PMID:12673804 PMID:12697903 PMID:12708462 PMID:12745884 PMID:12810666 PMID:12815592 PMID:12882767 PMID:12883528 PMID:12917204 PMID:12935922 PMID:12935933 PMID:12958068 PMID:12969974 PMID:12970738 PMID:14562025 PMID:14576320 PMID:14586414 PMID:14627829 PMID:14628072 PMID:14634505 PMID:14643952 PMID:14654357 PMID:14695186 PMID:14695534 PMID:14695997 PMID:14706517 PMID:14735203 PMID:14754616 PMID:14970866 PMID:15039971 PMID:15042666 PMID:15054841 PMID:15101044 PMID:15159313 PMID:15164409 PMID:15174027 PMID:15196260 PMID:15217508 PMID:15279808 PMID:15280931 PMID:15390180 PMID:15450731 PMID:15498871 PMID:15629612 PMID:15643608 PMID:15696190 PMID:15713674 PMID:15756685 PMID:15824023 PMID:15824150 PMID:15843990 PMID:15880680 PMID:15880721 PMID:15928302 PMID:16014569 PMID:16029571 PMID:16035317 PMID:16112413 PMID:16140923 PMID:16158199 PMID:16167060 PMID:16189143 PMID:16199547 PMID:16238588 PMID:16266405 PMID:16380133 PMID:16387360 PMID:16411093 PMID:16461462 PMID:16574953 PMID:16603769 PMID:16622469 PMID:16631465 PMID:16652348 PMID:16741161 PMID:16832357 PMID:16864838 PMID:16914028 PMID:16941484 PMID:16953663 PMID:16958054 PMID:16998505 PMID:17000706 PMID:17001622 PMID:17001642 PMID:17023046 PMID:17124347 PMID:17132159 PMID:17166884 PMID:17187232 PMID:17203191 PMID:17293864 PMID:17298726 PMID:17333338 PMID:17341484 PMID:17344846 PMID:17351744 PMID:17376192 PMID:17389389 PMID:17393301 PMID:17490827 PMID:17502119 PMID:17517479 PMID:17535973 PMID:17540590 PMID:17576681 PMID:17600866 PMID:17623063 PMID:17640065 PMID:17699107 PMID:17876757 PMID:17910737 PMID:17968022 PMID:17985259 PMID:18066086 PMID:18164969 PMID:18174244 PMID:18261794 PMID:18321536 PMID:18384426 PMID:18414213 PMID:18431795 PMID:18433505 PMID:18497957 PMID:18502988 PMID:18504682 PMID:18560558 PMID:18565893 PMID:18573109 PMID:18575927 PMID:18634022 PMID:18701470 PMID:18807267 PMID:18813293 PMID:18846412 PMID:19018867 PMID:19081671 PMID:19147735 PMID:19347964 PMID:19404735 PMID:19431188 PMID:19440741 PMID:19535770 PMID:19605768 PMID:19638463 PMID:19683821 PMID:19691550 PMID:19705055 PMID:19763152 PMID:19770270 PMID:19773425 PMID:19779456 PMID:19781682 PMID:19823873 PMID:19931588 PMID:20051774 PMID:20077034 PMID:20111735 PMID:20124459 PMID:20153123 PMID:20232390 PMID:20301790 PMID:20305132 PMID:20307669 PMID:20308662 PMID:20346647 PMID:20480175 PMID:20544271 PMID:20678261 PMID:20717907 PMID:20826828 PMID:20840352 PMID:20927582 PMID:20945614 PMID:20966255 PMID:20981092 PMID:21150274 PMID:21164480 PMID:21346221 PMID:21354641 PMID:21396839 PMID:21445571 PMID:21447618 PMID:21459046 PMID:21514219 PMID:21520333 PMID:21593342 PMID:21665257 PMID:21665297 PMID:21681852 PMID:21778326 PMID:21787400 PMID:21792198 PMID:21833744 PMID:21893220 PMID:21910157 PMID:21933854 PMID:21965147 PMID:21993670 PMID:22006793 PMID:22017321 PMID:22071889 PMID:22109722 PMID:22130802 PMID:22146522 PMID:22200977 PMID:22213089 PMID:22234840 PMID:22250480 PMID:22345219 PMID:22354567 PMID:22369572 PMID:22406018 PMID:22420423 PMID:22438227 PMID:22520355 PMID:22527104 PMID:22529920 PMID:22585167 PMID:22585170 PMID:22649200 PMID:22674506 PMID:22763152 PMID:22869595 PMID:22895193 PMID:22927201 PMID:22927308 PMID:22952040 PMID:22995991 PMID:23074045 PMID:23075580 PMID:23091097 PMID:23114601 PMID:23142947 PMID:23143971 PMID:23211698 PMID:23242139 PMID:23264026 PMID:23322442 PMID:23360865 PMID:23369113 PMID:23376243 PMID:23454770 PMID:23509889 PMID:23532176 PMID:23555315 PMID:23561644 PMID:23566627 PMID:23585368 PMID:23585524 PMID:23612382 PMID:23632773 PMID:23640770 PMID:23652012 PMID:23667852 PMID:23671275 PMID:23726790 PMID:23761041 PMID:23774824 PMID:23807571 PMID:23810757 PMID:23836671 PMID:23946315 PMID:23960188 PMID:24033266 PMID:24088041 PMID:24090759 PMID:24113346 PMID:24120321 PMID:24142997 PMID:24172824 PMID:24197801 PMID:24201163 PMID:24204193 PMID:24325359 PMID:24326041 PMID:24356096 PMID:24368146 PMID:24405665 PMID:24416720 PMID:24422204 PMID:24448499 PMID:24506781 PMID:24512911 PMID:24549055 PMID:24556621 PMID:24568663 PMID:24628946 PMID:24643969 PMID:24667671 PMID:24682267 PMID:24695838 PMID:24728327 PMID:24733792 PMID:24763289 PMID:24789685 PMID:24825865 PMID:24831771 PMID:24834793 PMID:24853695 PMID:24886963 PMID:24920063 PMID:24935205 PMID:24951259 PMID:24954719 PMID:24970356 PMID:24983367 PMID:25032865 PMID:25037873 PMID:25040471 PMID:25042771 PMID:25058500 PMID:25077176 PMID:25085752 PMID:25101980 PMID:25117502 PMID:25122203 PMID:25133958 PMID:25148578 PMID:25151137 PMID:25159481 PMID:25182519 PMID:25186627 PMID:25186949 PMID:25231023 PMID:25232094 PMID:25257301 PMID:25275298 PMID:25303977 PMID:25318351 PMID:25320358 PMID:25326635 PMID:25326637 PMID:25330149 PMID:25356970 PMID:25374739 PMID:25428789 PMID:25452441 PMID:25460276 PMID:25479140 PMID:25480502 PMID:25502423 PMID:25503501 PMID:25523272 PMID:25525159 PMID:25572163 PMID:25586381 PMID:25587027 PMID:25589003 PMID:25600502 PMID:25614872 PMID:25625042 PMID:25640679 PMID:25741868 PMID:25741914 PMID:25741916 PMID:25742471 PMID:25749350 PMID:25793145 PMID:25862857 PMID:25877891 PMID:25882375 PMID:25892863 PMID:25914063 PMID:25925381 PMID:25925954 PMID:25938944 PMID:25957637 PMID:25980754 PMID:26009992 PMID:26010451 PMID:26022348 PMID:26023681 PMID:26053404 PMID:26085511 PMID:26094658 PMID:26098866 PMID:26112015 PMID:26123645 PMID:26155992 PMID:26164066 PMID:26181193 PMID:26182300 PMID:26193622 PMID:26206375 PMID:26207792 PMID:26214590 PMID:26220245 PMID:26225655 PMID:26238431 PMID:26246601 PMID:26247737 PMID:26250988 PMID:26270727 PMID:26296696 PMID:26296701 PMID:26317927 PMID:26320869 PMID:26344566 PMID:26380989 PMID:26439923 PMID:26466571 PMID:26467025 PMID:26483394 PMID:26506520 PMID:26517685 PMID:26530882 PMID:26534844 PMID:26556299 PMID:26580448 PMID:26619011 PMID:26628246 PMID:26630574 PMID:26633542 PMID:26633545 PMID:26635394 PMID:26658419 PMID:26662178 PMID:26667234 PMID:26677768 PMID:26681312 PMID:26689913 PMID:26692440 PMID:26693373 PMID:26757417 PMID:26771497 PMID:26774591 PMID:26778106 PMID:26786923 PMID:26787654 PMID:26822949 PMID:26824983 PMID:26837699 PMID:26845104 PMID:26846839 PMID:26854966 PMID:26878173 PMID:26896183 PMID:26898890 PMID:26901136 PMID:26911350 PMID:26915675 PMID:26917275 PMID:26976419 PMID:27016235 PMID:27034805 PMID:27039262 PMID:27043212 PMID:27064202 PMID:27066513 PMID:27067391 PMID:27083775 PMID:27093186 PMID:27097373 PMID:27121310 PMID:27146902 PMID:27149842 PMID:27150160 PMID:27153395 PMID:27159176 PMID:27175599 PMID:27200287 PMID:27224988 PMID:27276934 PMID:27304073 PMID:27322425 PMID:27365426 PMID:27375234 PMID:27413114 PMID:27433846 PMID:27443514 PMID:27449771 PMID:27460089 PMID:27468087 PMID:27479817 PMID:27484032 PMID:27498913 PMID:27528516 PMID:27535334 PMID:27553368 PMID:27568332 PMID:27581129 PMID:27595995 PMID:27599564 PMID:27602502 PMID:27613453 PMID:27616075 PMID:27621404 PMID:27664052 PMID:27671921 PMID:27692705 PMID:27720647 PMID:27732944 PMID:27756406 PMID:27779110 PMID:27782108 PMID:27798748 PMID:27803004 PMID:27844328 PMID:27854218 PMID:27871447 PMID:27873105 PMID:27878467 PMID:27884168 PMID:27896999 PMID:27913932 PMID:27932211 PMID:27959900 PMID:27978560 PMID:27980538 PMID:27988859 PMID:27989354 PMID:27994516 PMID:27997549 PMID:28007021 PMID:28008555 PMID:28051113 PMID:28054583 PMID:28055970 PMID:28076423 PMID:28087566 PMID:28093192 PMID:28093616 PMID:28119368 PMID:28120234 PMID:28123174 PMID:28125075 PMID:28126470 PMID:28135048 PMID:28135145 PMID:28139868 PMID:28152038 PMID:28170084 PMID:28182994 PMID:28195393 PMID:28196074 PMID:28202063 PMID:28211887 PMID:28259476 PMID:28281021 PMID:28281318 PMID:28282032 PMID:28338653 PMID:28423360 PMID:28423363 PMID:28423702 PMID:28440963 PMID:28451460 PMID:28486781 PMID:28488180 PMID:28492530 PMID:28492532 PMID:28495237 PMID:28497333 PMID:28503720 PMID:28508083 PMID:28528518 PMID:28569218 PMID:28569743 PMID:28580595 PMID:28591191 PMID:28608266 PMID:28640387 PMID:28652578 PMID:28657667 PMID:28687356 PMID:28687971 PMID:28691344 PMID:28716242 PMID:28717660 PMID:28724467 PMID:28724667 PMID:28726808 PMID:28743247 PMID:28767289 PMID:28779002 PMID:28825054 PMID:28828701 PMID:28830922 PMID:28843361 PMID:28849312 PMID:28873162 PMID:28875981 PMID:28878254 PMID:28888541 PMID:28894253 PMID:28898322 PMID:28916186 PMID:28956312 PMID:28975018 PMID:28975465 PMID:29036293 PMID:29053726 PMID:29058119 PMID:29059438 PMID:29081736 PMID:29101607 PMID:29127364 PMID:29141312 PMID:29144541 PMID:29163336 PMID:29263802 PMID:29271107 PMID:29308099 PMID:29317520 PMID:29335925 PMID:29356034 PMID:29360161 PMID:29360550 PMID:29368341 PMID:29371908 PMID:29415044 PMID:29423082 PMID:29445900 PMID:29449433 PMID:29458332 PMID:29470806 PMID:29478780 PMID:29482223 PMID:29485843 PMID:29486991 PMID:29487225 PMID:29492593 PMID:29506079 PMID:29506128 PMID:29522266 PMID:29555025 PMID:29555771 PMID:29559559 PMID:29596542 PMID:29600275 PMID:29615459 PMID:29625052 PMID:29641532 PMID:29642553 PMID:29659569 PMID:29659587 PMID:29664460 PMID:29665859 PMID:29667044 PMID:29678143 PMID:29684080 PMID:29719442 PMID:29731985 PMID:29752822 PMID:29753700 PMID:29754934 PMID:29758562 PMID:29769598 PMID:29778231 PMID:29785153 PMID:29789584 PMID:29866652 PMID:29888287 PMID:29895855 PMID:29905759 PMID:29906526 PMID:29909963 PMID:29915322 PMID:29915382 PMID:29922827 PMID:29945567 PMID:29946849 PMID:29954938 PMID:29958926 PMID:29961768 PMID:29967250 PMID:30062048 PMID:30067863 PMID:30086788 PMID:30093976 PMID:30124550 PMID:30128536 PMID:30154229 PMID:30159786 PMID:30181556 PMID:30192042 PMID:30197789 PMID:30214756 PMID:30233647 PMID:30253992 PMID:30256826 PMID:30262796 PMID:30267214 PMID:30274973 PMID:30279689 PMID:30283815 PMID:30287823 PMID:30303537 PMID:30306255 PMID:30309722 PMID:30311369 PMID:30322717 PMID:30338439 PMID:30339652 PMID:30340782 PMID:30363071 PMID:30374176 PMID:30385609 PMID:30389154 PMID:30402232 PMID:30413523 PMID:30420857 PMID:30425284 PMID:30426508 PMID:30441849 PMID:30447919 PMID:30455982 PMID:30482293 PMID:30504431 PMID:30537493 PMID:30541756 PMID:30549301 PMID:30553997 PMID:30563988 PMID:30579816 PMID:30584090 PMID:30607632 PMID:30612635 PMID:30613976 PMID:30620386 PMID:30625039 PMID:30639167 PMID:30651582 PMID:30662270 PMID:30666157 PMID:30697212 PMID:30713859 PMID:30713931 PMID:30716324 PMID:30723761 PMID:30730459 PMID:30772474 PMID:30814645 PMID:30816533 PMID:30819809 PMID:30833958 PMID:30850667 PMID:30851086 PMID:30883245 PMID:30888062 PMID:30927251 PMID:30938815 PMID:30957677 PMID:30963573 PMID:30982232 PMID:30995915 PMID:31012270 PMID:31050087 PMID:31054420 PMID:31056428 PMID:31097817 PMID:31101757 PMID:31118792 PMID:31125277 PMID:31130284 PMID:31139954 PMID:31159747 PMID:31160347 PMID:31169336 PMID:31173646 PMID:31173964 PMID:31206626 PMID:31214250 PMID:31214711 PMID:31216378 PMID:31227566 PMID:31248605 PMID:31263571 PMID:31273614 PMID:31275557 PMID:31285527 PMID:31300551 PMID:31317629 PMID:31319225 PMID:31325073 PMID:31341520 PMID:31350202 PMID:31352369 PMID:31360874 PMID:31382929 PMID:31403082 PMID:31407689 PMID:31415627 PMID:31422574 PMID:31428572 PMID:31429931 PMID:31432501 PMID:31447099 PMID:31465090 PMID:31470354 PMID:31472684 PMID:31497750 PMID:31589614 PMID:31611883 PMID:31617914 PMID:31638252 PMID:31642931 PMID:31658756 PMID:31666926 PMID:31671381 PMID:31691010 PMID:31704732 PMID:31719806 PMID:31721094 PMID:31729406 PMID:31731261 PMID:31740029 PMID:31741144 PMID:31742824 PMID:31754145 PMID:31776720 PMID:31780696 PMID:31780705 PMID:31784482 PMID:31784493 PMID:31788995 PMID:31794323 PMID:31811167 PMID:31815095 PMID:31843900 PMID:31867841 PMID:31871109 PMID:31871297 PMID:31874108 PMID:31882575 PMID:31911633 PMID:31919090 PMID:31920950 PMID:31921190 PMID:31921681 PMID:31942411 PMID:31948886 PMID:31966388 PMID:31970404 PMID:32002120 PMID:32005694 PMID:32008151 PMID:32012241 PMID:32019284 PMID:32039725 PMID:32052936 PMID:32066632 PMID:32068069 PMID:32081490 PMID:32091409 PMID:32095276 PMID:32107087 PMID:32113160 PMID:32125938 PMID:32133419 PMID:32172615 PMID:32183301 PMID:32183364 PMID:32255556 PMID:32283892 PMID:32295079 PMID:32315455 PMID:32318955 PMID:32325837 PMID:32338768 PMID:32365798 PMID:32365829 PMID:32368696 PMID:32371905 PMID:32383162 PMID:32427313 PMID:32461654 PMID:32471518 PMID:32488064 PMID:32521533 PMID:32522261 PMID:32531373 PMID:32558426 PMID:32566746 PMID:32581083 PMID:32601921 PMID:32606146 PMID:32655291 PMID:32658311 PMID:32659497 PMID:32676327 PMID:32694154 PMID:32710489 PMID:32748564 PMID:32754152 PMID:32756499 PMID:32761968 PMID:32772458 PMID:32775531 PMID:32782288 PMID:32792570 PMID:32810930 PMID:32818697 PMID:32830346 PMID:32832836 PMID:32842532 PMID:32853339 PMID:32854451 PMID:32860008 PMID:32866190 PMID:32866655 PMID:32875559 PMID:32885271 PMID:32888943 PMID:32901917 PMID:32906206 PMID:32918381 PMID:32923906 PMID:32936981 PMID:32957588 PMID:32958592 PMID:32959997 PMID:32962506 PMID:32963463 PMID:32973888 PMID:32980694 PMID:32984025 PMID:32986223 PMID:32994724 PMID:32999401 PMID:33011440 PMID:33047316 PMID:33048355 PMID:33050356 PMID:33054084 PMID:33084218 PMID:33095795 PMID:33098801 PMID:33120919 PMID:33128190 PMID:33134171 PMID:33150793 PMID:33163394 PMID:33168809 PMID:33176972 PMID:33181636 PMID:33191115 PMID:33203166 PMID:33206719 PMID:33239428 PMID:33240400 PMID:33280026 PMID:33302456 PMID:33309985 PMID:33330270 PMID:33332384 PMID:33359728 PMID:33365035 PMID:33376610 PMID:33395407 PMID:33402103 PMID:33415580 PMID:33421217 PMID:33436325 PMID:33439686 PMID:33442023 PMID:33462019 PMID:33471191 PMID:33471991 PMID:33479248 PMID:33502066 PMID:33509806 PMID:33544757 PMID:33547824 PMID:33551102 PMID:33552952 PMID:33558524 PMID:33588785 PMID:33606809 PMID:33608381 PMID:33630411 PMID:33646313 PMID:33742106 PMID:33747920 PMID:33750258 PMID:33779842 PMID:33785725 PMID:33804961 PMID:33850299 PMID:33858029 PMID:33875564 PMID:33893081 PMID:33919281 PMID:33939675 PMID:33980423 PMID:34008015 PMID:34009545 PMID:34067464 PMID:34107524 PMID:34117267 PMID:34130653 PMID:34196900 PMID:34199532 PMID:34204722 PMID:34247626 PMID:34250389 PMID:34250417 PMID:34262154 PMID:34270679 PMID:34271781 PMID:34283047 PMID:34284872 PMID:34299313 PMID:34308104 PMID:34326862 PMID:34337741 PMID:34359559 PMID:34371384 PMID:34377931 PMID:34399810 PMID:34426522 PMID:34433815 PMID:34445196 PMID:34453918 PMID:34477817 PMID:34539671 PMID:34570441 PMID:34573280 PMID:34582042 PMID:34600502 PMID:34602955 PMID:34606182 PMID:34628594 PMID:34646395 PMID:34653963 PMID:34654685 PMID:34659905 PMID:34663476 PMID:34680501 PMID:34680878 PMID:34755017 PMID:34759960 PMID:34761457 PMID:34771661 PMID:34820595 PMID:34824606 PMID:34873480 PMID:34884835 PMID:34949663 PMID:34954471 PMID:34994613 PMID:35008949 PMID:35029067 PMID:35039564 PMID:35047863 PMID:35078243 PMID:35085662 PMID:35098669 PMID:35127508 PMID:35145552 PMID:35154108 PMID:35171259 PMID:35181726 PMID:35186721 PMID:35201558 PMID:35220195 PMID:35221880 PMID:35245693 PMID:35257272 PMID:35260754 PMID:35264596 PMID:35273153 PMID:35284771 PMID:35309086 PMID:35312250 PMID:35353237 PMID:35365198 PMID:35402282 PMID:35406420 PMID:35418818 PMID:35441217 PMID:35451682 PMID:35467778 PMID:35483985 PMID:35495172 PMID:35534218 PMID:35534704 PMID:35652560 PMID:35666082 PMID:35708139 PMID:35710434 PMID:35716007 PMID:35717579 PMID:35734982 PMID:35763645 PMID:35806449 PMID:35886069 PMID:35892882 PMID:35893033 PMID:35957908 PMID:35980532 PMID:36000185 PMID:36008414 PMID:36029002 PMID:36035419 PMID:36091166 PMID:36099812 PMID:36117189 PMID:36132150 PMID:36167400 PMID:36200007 PMID:36243179 PMID:36315513 PMID:36315919 PMID:36329109 PMID:36446039 PMID:36451132 PMID:36521553 PMID:36531003 PMID:36551643 PMID:36555667 PMID:36568162 PMID:36627197 PMID:36672847 PMID:36674612 PMID:36704080 PMID:36717774 PMID:36790564 PMID:36898365 PMID:36979741 PMID:36988593 PMID:37009283 PMID:37088804 PMID:37149759 PMID:37239058 PMID:37262986 PMID:37436117 PMID:37438524 PMID:37445923 PMID:37453313 PMID:197781682 More...
NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,552
G
BAK1
BCL2 antagonist/killer 1
ISO
DNA:mutation:exon:c.342C>T(human)
RGD
PMID:19898928
RGD:14394817
NCBI chr 7:29,808,849...29,815,345
G
BAX
BCL2 associated X, apoptosis regulator
susceptibility
ISO
DNA:mutations:introns:IVS1146C>T, IVS3+14A>G(human)
RGD
PMID:19898928
RGD:14394817
NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,222,336...54,228,140
G
BIRC3
baculoviral IAP repeat containing 3
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:33,003,570...33,020,252
Ensembl chr 9:33,003,276...33,020,242
G
BRAF
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:16439621 PMID:16474404 PMID:18039235 PMID:18413255 PMID:18953432 PMID:19206169 PMID:22495831 PMID:24446311 PMID:24920063 PMID:25157968 PMID:25348715 PMID:25741868 PMID:26732095 PMID:27276561 PMID:28492532 PMID:28524057 PMID:28947956 PMID:31475041 More...
NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553
G
BTG4
BTG anti-proliferation factor 4
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:39,253,116...39,281,327
Ensembl chr 9:39,237,461...39,301,588
G
C9H11orf52
chromosome 9 C11orf52 homolog
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:39,646,890...39,655,229
Ensembl chr 9:39,647,797...39,655,223
G
C9H11orf65
chromosome 9 C11orf65 homolog
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome
ClinVar
PMID:100011 PMID:581456 PMID:622825 PMID:988733 PMID:1065243 PMID:1098053 PMID:1160401 PMID:1849795 PMID:1943118 PMID:2166257 PMID:2557216 PMID:2675381 PMID:3338800 PMID:4012663 PMID:6504056 PMID:7792600 PMID:8659541 PMID:8665503 PMID:8698354 PMID:8755819 PMID:8755918 PMID:8797579 PMID:8808599 PMID:8845835 PMID:8923007 PMID:9000145 PMID:9043869 PMID:9054948 PMID:9150358 PMID:9244351 PMID:9259193 PMID:9288106 PMID:9334731 PMID:9443866 PMID:9450874 PMID:9450906 PMID:9463314 PMID:9488043 PMID:9497252 PMID:9536098 PMID:9537233 PMID:9622061 PMID:9682216 PMID:9711876 PMID:9733514 PMID:9764584 PMID:9792409 PMID:9792410 PMID:9872980 PMID:9887333 PMID:9892178 PMID:10023947 PMID:10234507 PMID:10330348 PMID:10397742 PMID:10416970 PMID:10425038 PMID:10464642 PMID:10534763 PMID:10706620 PMID:10738255 PMID:10817650 PMID:10864201 PMID:10873394 PMID:10980530 PMID:11054065 PMID:11298136 PMID:11382771 PMID:11443540 PMID:11468183 PMID:11505391 PMID:11606401 PMID:11746755 PMID:11756177 PMID:11756185 PMID:11805335 PMID:11826028 PMID:11830610 PMID:11839094 PMID:11849780 PMID:11857346 PMID:11897822 PMID:12072552 PMID:12072877 PMID:12091354 PMID:12149228 PMID:12195425 PMID:12400598 PMID:12473594 PMID:12497634 PMID:12511424 PMID:12552559 PMID:12552566 PMID:12646636 PMID:12655570 PMID:12673797 PMID:12673804 PMID:12697903 PMID:12745884 PMID:12810666 PMID:12815592 PMID:12882767 PMID:12883528 PMID:12917204 PMID:12935922 PMID:12935933 PMID:12958068 PMID:12969974 PMID:14562025 PMID:14576320 PMID:14586414 PMID:14627829 PMID:14628072 PMID:14643952 PMID:14654357 PMID:14695186 PMID:14695534 PMID:14706517 PMID:14754616 PMID:14970866 PMID:15039971 PMID:15101044 PMID:15159313 PMID:15174027 PMID:15196260 PMID:15279808 PMID:15390180 PMID:15450731 PMID:15696190 PMID:15756685 PMID:15843990 PMID:15880721 PMID:15928302 PMID:16014569 PMID:16140923 PMID:16158199 PMID:16167060 PMID:16189143 PMID:16199547 PMID:16238588 PMID:16266405 PMID:16380133 PMID:16387360 PMID:16411093 PMID:16461462 PMID:16603769 PMID:16622469 PMID:16631465 PMID:16652348 PMID:16832357 PMID:16864838 PMID:16914028 PMID:16941484 PMID:16953663 PMID:16958054 PMID:17001622 PMID:17124347 PMID:17132159 PMID:17166884 PMID:17298726 PMID:17333338 PMID:17344846 PMID:17376192 PMID:17389389 PMID:17393301 PMID:17517479 PMID:17540590 PMID:17576681 PMID:17600866 PMID:17623063 PMID:17640065 PMID:17910737 PMID:17968022 PMID:18066086 PMID:18321536 PMID:18384426 PMID:18414213 PMID:18431795 PMID:18497957 PMID:18504682 PMID:18560558 PMID:18573109 PMID:18575927 PMID:18634022 PMID:18807267 PMID:18813293 PMID:19018867 PMID:19147735 PMID:19347964 PMID:19404735 PMID:19431188 PMID:19440741 PMID:19535770 PMID:19605768 PMID:19691550 PMID:19763152 PMID:19779456 PMID:19781682 PMID:19823873 PMID:19931588 PMID:20077034 PMID:20153123 PMID:20232390 PMID:20301790 PMID:20305132 PMID:20307669 PMID:20346647 PMID:20480175 PMID:20840352 PMID:20945614 PMID:20966255 PMID:21150274 PMID:21346221 PMID:21354641 PMID:21445571 PMID:21459046 PMID:21665257 PMID:21665297 PMID:21778326 PMID:21787400 PMID:21792198 PMID:21833744 PMID:21933854 PMID:21965147 PMID:21993670 PMID:22006793 PMID:22017321 PMID:22071889 PMID:22109722 PMID:22146522 PMID:22213089 PMID:22234840 PMID:22250480 PMID:22345219 PMID:22369572 PMID:22406018 PMID:22420423 PMID:22529920 PMID:22585167 PMID:22585170 PMID:22649200 PMID:22674506 PMID:22869595 PMID:22895193 PMID:22927201 PMID:22952040 PMID:22995991 PMID:23091097 PMID:23142947 PMID:23143971 PMID:23211698 PMID:23264026 PMID:23322442 PMID:23454770 PMID:23532176 PMID:23555315 PMID:23585368 PMID:23585524 PMID:23632773 PMID:23640770 PMID:23667852 PMID:23671275 PMID:23761041 PMID:23774824 PMID:23807571 PMID:23836671 PMID:23946315 PMID:24033266 PMID:24088041 PMID:24090759 PMID:24172824 PMID:24326041 PMID:24356096 PMID:24405665 PMID:24416720 PMID:24448499 PMID:24506781 PMID:24549055 PMID:24556621 PMID:24628946 PMID:24643969 PMID:24667671 PMID:24728327 PMID:24733792 PMID:24763289 PMID:24789685 PMID:24825865 PMID:24853695 PMID:24920063 PMID:24951259 PMID:24970356 PMID:24983367 PMID:25032865 PMID:25037873 PMID:25040471 PMID:25042771 PMID:25058500 PMID:25077176 PMID:25085752 PMID:25117502 PMID:25122203 PMID:25133958 PMID:25148578 PMID:25151137 PMID:25182519 PMID:25186627 PMID:25186949 PMID:25232094 PMID:25318351 PMID:25320358 PMID:25326635 PMID:25326637 PMID:25330149 PMID:25374739 PMID:25428789 PMID:25452441 PMID:25460276 PMID:25479140 PMID:25480502 PMID:25502423 PMID:25503501 PMID:25523272 PMID:25525159 PMID:25572163 PMID:25586381 PMID:25587027 PMID:25589003 PMID:25614872 PMID:25625042 PMID:25640679 PMID:25741868 PMID:25741916 PMID:25742471 PMID:25793145 PMID:25877891 PMID:25914063 PMID:25925381 PMID:25925954 PMID:25938944 PMID:25957637 PMID:25980754 PMID:26009992 PMID:26010451 PMID:26022348 PMID:26053404 PMID:26094658 PMID:26098866 PMID:26182300 PMID:26193622 PMID:26206375 PMID:26220245 PMID:26225655 PMID:26238431 PMID:26246601 PMID:26247737 PMID:26270727 PMID:26296696 PMID:26296701 PMID:26344566 PMID:26380989 PMID:26439923 PMID:26466571 PMID:26467025 PMID:26483394 PMID:26506520 PMID:26530882 PMID:26534844 PMID:26556299 PMID:26580448 PMID:26628246 PMID:26630574 PMID:26633542 PMID:26633545 PMID:26662178 PMID:26677768 PMID:26681312 PMID:26689913 PMID:26692440 PMID:26693373 PMID:26786923 PMID:26787654 PMID:26822949 PMID:26824983 PMID:26837699 PMID:26845104 PMID:26896183 PMID:26898890 PMID:26901136 PMID:26915675 PMID:26917275 PMID:26976419 PMID:27066513 PMID:27067391 PMID:27083775 PMID:27097373 PMID:27121310 PMID:27153395 PMID:27159176 PMID:27175599 PMID:27200287 PMID:27304073 PMID:27433846 PMID:27443514 PMID:27449771 PMID:27479817 PMID:27498913 PMID:27528516 PMID:27581129 PMID:27595995 PMID:27602502 PMID:27616075 PMID:27621404 PMID:27664052 PMID:27692705 PMID:27720647 PMID:27732944 PMID:27798748 PMID:27871447 PMID:27873105 PMID:27878467 PMID:27884168 PMID:27913932 PMID:27932211 PMID:27959900 PMID:27978560 PMID:27988859 PMID:27989354 PMID:28007021 PMID:28008555 PMID:28051113 PMID:28076423 PMID:28093192 PMID:28093616 PMID:28120234 PMID:28125075 PMID:28126470 PMID:28135145 PMID:28139868 PMID:28152038 PMID:28170084 PMID:28188106 PMID:28195393 PMID:28259476 PMID:28338653 PMID:28423363 PMID:28486781 PMID:28492532 PMID:28495237 PMID:28503720 PMID:28508083 PMID:28569743 PMID:28580595 PMID:28591191 PMID:28608266 PMID:28652578 PMID:28687356 PMID:28691344 PMID:28716242 PMID:28717660 PMID:28724467 PMID:28724667 PMID:28726808 PMID:28767289 PMID:28779002 PMID:28825054 PMID:28828701 PMID:28843361 PMID:28873162 PMID:28875981 PMID:28888541 PMID:28898322 PMID:28975465 PMID:29036293 PMID:29058119 PMID:29081736 PMID:29141312 PMID:29163336 PMID:29263802 PMID:29317520 PMID:29335925 PMID:29356034 PMID:29360161 PMID:29368341 PMID:29371908 PMID:29415044 PMID:29445900 PMID:29470806 PMID:29478780 PMID:29482223 PMID:29485843 PMID:29506079 PMID:29506128 PMID:29522266 PMID:29555025 PMID:29555771 PMID:29559559 PMID:29596542 PMID:29600275 PMID:29625052 PMID:29641532 PMID:29659569 PMID:29664460 PMID:29665859 PMID:29667044 PMID:29678143 PMID:29684080 PMID:29719442 PMID:29752822 PMID:29753700 PMID:29758562 PMID:29785153 PMID:29888287 PMID:29905759 PMID:29906526 PMID:29909963 PMID:29915322 PMID:29915382 PMID:29922827 PMID:29945567 PMID:29946849 PMID:29954938 PMID:29958926 PMID:29961768 PMID:30067863 PMID:30086788 PMID:30093976 PMID:30128536 PMID:30154229 PMID:30192042 PMID:30197789 PMID:30214756 PMID:30253992 PMID:30256826 PMID:30267214 PMID:30287823 PMID:30303537 PMID:30306255 PMID:30311369 PMID:30322717 PMID:30338439 PMID:30339652 PMID:30363071 PMID:30374176 PMID:30385609 PMID:30413523 PMID:30426508 PMID:30441849 PMID:30447919 PMID:30482293 PMID:30504431 PMID:30541756 PMID:30549301 PMID:30579816 PMID:30607632 PMID:30612635 PMID:30613976 PMID:30620386 PMID:30651582 PMID:30697212 PMID:30723761 PMID:30730459 PMID:30772474 PMID:30814645 PMID:30819809 PMID:30850667 PMID:30851086 PMID:30883245 PMID:30888062 PMID:30927251 PMID:30982232 PMID:31012270 PMID:31050087 PMID:31054420 PMID:31056428 PMID:31097817 PMID:31101757 PMID:31118792 PMID:31125277 PMID:31130284 PMID:31139954 PMID:31159747 PMID:31160347 PMID:31173646 PMID:31206626 PMID:31214250 PMID:31214711 PMID:31216378 PMID:31248605 PMID:31263571 PMID:31273614 PMID:31275557 PMID:31285527 PMID:31319225 PMID:31325073 PMID:31341520 PMID:31352369 PMID:31382929 PMID:31403082 PMID:31407689 PMID:31422574 PMID:31429931 PMID:31447099 PMID:31465090 PMID:31611883 PMID:31617914 PMID:31691010 PMID:31731261 PMID:31740029 PMID:31741144 PMID:31742824 PMID:31754145 PMID:31780696 PMID:31784493 PMID:31811167 PMID:31815095 PMID:31843900 PMID:31871109 PMID:31882575 PMID:31911633 PMID:31919090 PMID:31920950 PMID:31921190 PMID:31921681 PMID:31948886 PMID:31966388 PMID:31970404 PMID:32002120 PMID:32008151 PMID:32039725 PMID:32068069 PMID:32091409 PMID:32095276 PMID:32107087 PMID:32113160 PMID:32125938 PMID:32133419 PMID:32183364 PMID:32255556 PMID:32283892 PMID:32295079 PMID:32325837 PMID:32338768 PMID:32365798 PMID:32365829 PMID:32427313 PMID:32471518 PMID:32488064 PMID:32522261 PMID:32558426 PMID:32566746 PMID:32601921 PMID:32606146 PMID:32655291 PMID:32658311 PMID:32676327 PMID:32694154 PMID:32748564 PMID:32754152 PMID:32756499 PMID:32772458 PMID:32782288 PMID:32792570 PMID:32810930 PMID:32832836 PMID:32853339 PMID:32854451 PMID:32860008 PMID:32875559 PMID:32885271 PMID:32906206 PMID:32918381 PMID:32936981 PMID:32957588 PMID:32963463 PMID:32980694 PMID:32986223 PMID:32994724 PMID:32999401 PMID:33011440 PMID:33048355 PMID:33050356 PMID:33054084 PMID:33095795 PMID:33098801 PMID:33128190 PMID:33134171 PMID:33163394 PMID:33239428 PMID:33280026 PMID:33309985 PMID:33330270 PMID:33332384 PMID:33376610 PMID:33395407 PMID:33402103 PMID:33421217 PMID:33436325 PMID:33439686 PMID:33442023 PMID:33471991 PMID:33502066 PMID:33509806 PMID:33547824 PMID:33551102 PMID:33552952 PMID:33558524 PMID:33606809 PMID:33608381 PMID:33630411 PMID:33646313 PMID:33747920 PMID:33750258 PMID:33850299 PMID:33858029 PMID:33919281 PMID:33939675 PMID:34067464 PMID:34117267 PMID:34130653 PMID:34196900 PMID:34199532 PMID:34204722 PMID:34247626 PMID:34250389 PMID:34250417 PMID:34262154 PMID:34270679 PMID:34271781 PMID:34284872 PMID:34299313 PMID:34326862 PMID:34337741 PMID:34359559 PMID:34371384 PMID:34377931 PMID:34426522 PMID:34445196 PMID:34570441 PMID:34573280 PMID:34582042 PMID:34600502 PMID:34602955 PMID:34606182 PMID:34628594 PMID:34646395 PMID:34653963 PMID:34663476 PMID:34680501 PMID:34680878 PMID:34755017 PMID:34759960 PMID:34761457 PMID:34771661 PMID:34873480 PMID:34949663 PMID:34954471 PMID:35008949 PMID:35029067 PMID:35039564 PMID:35047863 PMID:35078243 PMID:35127508 PMID:35154108 PMID:35171259 PMID:35181726 PMID:35186721 PMID:35201558 PMID:35221880 PMID:35245693 PMID:35260754 PMID:35264596 PMID:35273153 PMID:35309086 PMID:35312250 PMID:35353237 PMID:35365198 PMID:35402282 PMID:35467778 PMID:35534704 PMID:35666082 PMID:35708139 PMID:35710434 PMID:35716007 PMID:35734982 PMID:35763645 PMID:35806449 PMID:35886069 PMID:35892882 PMID:35893033 PMID:35957908 PMID:35980532 PMID:36029002 PMID:36091166 PMID:36200007 PMID:36243179 PMID:36315919 PMID:36446039 PMID:36451132 PMID:36521553 PMID:36531003 PMID:36555667 PMID:36568162 PMID:36627197 PMID:36672847 PMID:36704080 PMID:36790564 PMID:36988593 PMID:37009283 PMID:37262986 PMID:37438524 PMID:37445923 More...
NCBI chr 9:36,768,819...36,855,318
Ensembl chr 9:36,776,897...36,849,710
G
C9H11orf87
chromosome 9 C11orf87 homolog
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:37,297,438...37,939,922
Ensembl chr 9:37,613,308...37,620,660
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CASP1
caspase 1, apoptosis-related cysteine peptidase
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:35,188,066...35,199,364
Ensembl chr 9:35,186,420...35,200,328
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CCDC82
coiled-coil domain containing 82
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:28,376,716...28,407,350
Ensembl chr 9:28,376,732...28,407,348
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CEP126
centrosomal protein 126
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:32,631,859...32,715,458
Ensembl chr 9:32,631,897...32,705,793
G
CEP57
centrosomal protein 57
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:27,812,944...27,858,293
Ensembl chr 9:27,812,917...27,859,568
G
CFAP300
cilia and flagella associated protein 300
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:32,753,274...32,795,303
Ensembl chr 9:32,765,880...32,795,297
G
CFAP68
cilia and flagella associated protein 68
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:39,629,921...39,641,769
Ensembl chr 9:39,612,409...39,660,648
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CNTN5
contactin 5
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:30,259,603...31,469,860
Ensembl chr 9:30,572,372...31,469,858
G
CRYAB
crystallin alpha B
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:39,638,505...39,643,530
Ensembl chr 9:39,638,506...39,643,530
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CUL5
cullin 5
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:36,419,806...36,507,681
Ensembl chr 9:36,419,881...36,507,667
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CWC15
CWC15 spliceosome associated protein homolog
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:27,035,501...27,047,280
Ensembl chr 9:27,035,510...27,047,224
G
CWF19L2
CWF19 like cell cycle control factor 2
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:35,967,198...36,059,780
Ensembl chr 9:35,967,204...36,059,749
G
DCUN1D5
defective in cullin neddylation 1 domain containing 5
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:33,674,524...33,707,648
Ensembl chr 9:33,674,268...33,707,618
G
DDI1
DNA damage inducible 1 homolog 1
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:34,503,087...34,505,026
Ensembl chr 9:34,503,716...34,504,921
G
DDX10
DEAD-box helicase 10
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:37,006,571...37,265,973
G
DIXDC1
DIX domain containing 1
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:39,666,454...39,734,909
G
DLAT
dihydrolipoamide S-acetyltransferase
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:39,738,639...39,763,813
Ensembl chr 9:39,738,564...39,796,806
G
DYNC2H1
dynein cytoplasmic 2 heavy chain 1
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:33,720,920...34,039,954
Ensembl chr 9:33,720,877...34,040,188
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ELMOD1
ELMO domain containing 1
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:36,141,330...36,208,125
Ensembl chr 9:36,142,316...36,208,696
G
ENDOD1
endonuclease domain containing 1
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:27,134,039...27,163,278
Ensembl chr 9:27,134,056...27,164,703
G
FAM76B
family with sequence similarity 76 member B
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:27,790,139...27,813,418
Ensembl chr 9:27,790,150...27,812,222
G
FDX1
ferredoxin 1
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:38,376,147...38,399,026
Ensembl chr 9:38,375,984...38,404,832
G
FDXACB1
ferredoxin-fold anticodon binding domain containing 1
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:39,623,871...39,629,987
Ensembl chr 9:39,622,902...39,629,836
G
FUT4
fucosyltransferase 4
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:26,679,540...26,686,217
Ensembl chr 9:26,679,868...26,681,541
G
GRIA4
glutamate ionotropic receptor AMPA type subunit 4
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:35,442,060...35,803,989
Ensembl chr 9:35,442,091...35,805,357
G
GUCY1A2
guanylate cyclase 1 soluble subunit alpha 2
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:62,101,581...62,510,803
Ensembl chr 9:62,101,613...62,499,581
G
HDAC4
histone deacetylase 4
treatment
ISO
protein:altered localization:nucleus:
RGD
PMID:22466704
RGD:9681455
NCBI chr15:138,378,237...138,657,266
Ensembl chr15:138,381,635...138,614,301
G
HOATZ
HOATZ cilia and flagella associated protein
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:39,278,888...39,304,816
Ensembl chr 9:39,276,995...39,304,804
G
IFNG
interferon gamma
ISO
RGD
PMID:6432389
RGD:8693328
NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
G
IL2
interleukin 2
ISO
RGD
PMID:6432389
RGD:8693328
NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
G
IL6
interleukin 6
severity
ISO
RGD
PMID:26851119
RGD:11529801
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
G
KBTBD3
kelch repeat and BTB domain containing 3
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:35,870,911...35,903,870
Ensembl chr 9:35,874,041...35,903,729
G
LAYN
layilin
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:39,306,276...39,326,825
Ensembl chr 9:39,306,300...39,327,072
G
LOC100512977
KDEL motif-containing protein 2
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:36,856,092...36,970,940
Ensembl chr 9:36,852,560...36,879,483 Ensembl chr 9:36,852,560...36,879,483
G
LOC100522887
caspase-13
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:35,167,567...35,185,791
G
LOC100622859
baculoviral IAP repeat-containing protein 2
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:33,041,592...33,062,865
Ensembl chr 9:33,041,663...33,062,854
G
LOC100627380
lysine-specific demethylase 4D-like
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:27,083,348...27,085,693
G
LOC641352
caspase-15
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr13:24,046,127...24,068,431
G
MAML2
mastermind like transcriptional coactivator 2
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:27,993,319...28,372,982
Ensembl chr 9:27,997,887...28,371,397
G
MIR34C-1
microRNA mir-34c-1
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:39,280,278...39,280,357
Ensembl chr 9:39,280,278...39,280,357
G
MMP1
matrix metallopeptidase 1
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076
G
MMP12
matrix metallopeptidase 12
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:33,473,625...33,483,630
Ensembl chr 9:33,473,093...33,483,679
G
MMP13
matrix metallopeptidase 13
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:33,549,003...33,616,700
Ensembl chr 9:33,549,008...33,561,162
G
MMP20
matrix metallopeptidase 20
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:33,261,448...33,308,047
Ensembl chr 9:33,261,443...33,308,047
G
MMP27
matrix metallopeptidase 27
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:33,366,342...33,379,828
Ensembl chr 9:33,366,345...33,379,789
G
MMP3
matrix metallopeptidase 3
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:33,446,969...33,453,995
Ensembl chr 9:33,446,836...33,454,000
G
MMP7
matrix metallopeptidase 7
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:33,214,590...33,225,080
Ensembl chr 9:33,214,594...33,225,080
G
MMP8
matrix metallopeptidase 8
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:33,384,034...33,397,637
Ensembl chr 9:33,384,033...33,396,947
G
MRE11
MRE11 homolog, double strand break repair nuclease
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:26,572,352...26,634,596
Ensembl chr 9:26,572,361...26,634,567
G
MSANTD4
Myb/SANT DNA binding domain containing 4 with coiled-coils
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:35,828,697...35,839,579
Ensembl chr 9:35,830,837...35,862,114
G
MTMR2
myotubularin related protein 2
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:27,864,335...27,974,448
Ensembl chr 9:27,854,491...27,974,423
G
NKAPD1
NKAP domain containing 1
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:39,775,579...39,787,962
Ensembl chr 9:39,775,676...39,787,969
G
NPAT
nuclear protein, coactivator of histone transcription
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532 PMID:31671381
NCBI chr 9:36,554,800...36,620,515
Ensembl chr 9:36,554,671...36,620,446
G
PDGFD
platelet derived growth factor D
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:34,388,636...34,621,227
Ensembl chr 9:34,388,643...34,621,244
G
PGR
progesterone receptor
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:32,035,684...32,129,776
Ensembl chr 9:32,035,684...32,129,221
G
PIH1D2
PIH1 domain containing 2
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:39,767,708...39,775,477
Ensembl chr 9:39,765,305...39,775,401
G
PIWIL4
piwi like RNA-mediated gene silencing 4
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:26,679,960...26,751,856
Ensembl chr 9:26,703,340...26,751,854
G
POU2AF1
POU class 2 homeobox associating factor 1
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:39,121,422...39,144,636
Ensembl chr 9:39,119,052...39,144,606
G
POU2AF2
POU class 2 homeobox associating factor 2
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:39,024,067...39,065,379
Ensembl chr 9:39,024,631...39,062,684
G
POU2AF3
POU class 2 homeobox associating factor 3
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:39,071,994...39,081,493
Ensembl chr 9:39,071,706...39,081,486
G
PPP2R1B
protein phosphatase 2 scaffold subunit Abeta
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:39,479,040...39,518,773
Ensembl chr 9:39,480,331...39,517,629
G
RAB39A
RAB39A, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:36,341,339...36,403,690
Ensembl chr 9:36,341,339...36,403,654
G
RDX
radixin
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:38,243,608...38,299,561
Ensembl chr 9:38,220,447...38,322,097
G
SDHD
succinate dehydrogenase complex subunit D
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:39,790,654...39,803,602
Ensembl chr 9:39,790,595...39,803,950
G
SESN3
sestrin 3
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:27,207,239...27,279,205
Ensembl chr 9:27,207,236...27,298,628
G
SIK2
salt inducible kinase 2
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:39,368,555...39,483,519
Ensembl chr 9:39,368,599...39,483,515
G
SLC35F2
solute carrier family 35 member F2
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:36,243,059...36,341,361
Ensembl chr 9:36,288,558...36,341,284
G
SLN
sarcolipin
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:36,232,955...36,242,405
Ensembl chr 9:36,232,968...36,242,405
G
TIMM8B
translocase of inner mitochondrial membrane 8 homolog B
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:39,788,164...39,790,563
Ensembl chr 9:39,787,405...39,790,718
G
TMEM123
transmembrane protein 123
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:33,084,820...33,160,346
Ensembl chr 9:33,084,822...33,160,311
G
TRPC6
transient receptor potential cation channel subfamily C member 6
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:32,332,768...32,439,184
Ensembl chr 9:32,332,771...32,439,184
G
YAP1
Yes1 associated transcriptional regulator
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:32,811,629...32,924,926
Ensembl chr 9:32,811,416...32,925,603
G
ZC3H12C
zinc finger CCCH-type containing 12C
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome
ClinVar
PMID:23807571 PMID:25614872 PMID:28492532
NCBI chr 9:38,133,440...38,209,365
Ensembl chr 9:38,138,004...38,207,027
G
MRE11
MRE11 homolog, double strand break repair nuclease
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder
ClinVar
PMID:2433832 PMID:8445618 PMID:8684395 PMID:9536098 PMID:9845372 PMID:10612394 PMID:11196167 PMID:11238951 PMID:11371508 PMID:12966088 PMID:14684699 PMID:14690604 PMID:15269180 PMID:16199547 PMID:16858402 PMID:17576681 PMID:18854157 PMID:19383352 PMID:19732584 PMID:19763152 PMID:20052722 PMID:20307669 PMID:20805886 PMID:21227757 PMID:21252998 PMID:22006311 PMID:22078559 PMID:22139912 PMID:22406018 PMID:22705791 PMID:22863007 PMID:23028188 PMID:23080121 PMID:23436002 PMID:23718828 PMID:23755103 PMID:23912341 PMID:24030952 PMID:24033266 PMID:24093751 PMID:24332946 PMID:24549055 PMID:24556621 PMID:24733832 PMID:24763289 PMID:24894818 PMID:25040471 PMID:25133958 PMID:25326635 PMID:25326637 PMID:25452441 PMID:25503501 PMID:25640679 PMID:25741868 PMID:26057807 PMID:26122175 PMID:26467025 PMID:26483394 PMID:26534844 PMID:26556299 PMID:26580448 PMID:26633542 PMID:26680607 PMID:26757417 PMID:26786923 PMID:26787654 PMID:26845104 PMID:26878173 PMID:26898890 PMID:27153395 PMID:27329137 PMID:27433846 PMID:27621404 PMID:27783279 PMID:27878467 PMID:28008555 PMID:28051113 PMID:28125075 PMID:28152038 PMID:28202063 PMID:28486781 PMID:28492532 PMID:28524162 PMID:28559769 PMID:28699156 PMID:28715532 PMID:28849312 PMID:28873162 PMID:28888541 PMID:28975465 PMID:29170652 PMID:29348823 PMID:29371908 PMID:29478780 PMID:29752822 PMID:29922827 PMID:30093976 PMID:30306255 PMID:30441849 PMID:30613976 PMID:30924587 PMID:31033087 PMID:31159747 PMID:31273614 PMID:31353207 PMID:31360874 PMID:31780696 PMID:31887429 PMID:32039725 PMID:32183364 PMID:32338768 PMID:32427313 PMID:32449991 PMID:32521533 PMID:32566746 PMID:32658311 PMID:32832836 PMID:32959997 PMID:32986223 PMID:33098801 PMID:33134171 PMID:33426167 PMID:33471991 PMID:33479248 PMID:33510186 PMID:33624863 PMID:33956305 PMID:34009545 PMID:34075539 PMID:34426522 PMID:35089076 PMID:35495172 PMID:36035419 PMID:36050397 PMID:36091175 PMID:36113475 PMID:37013556 More...
NCBI chr 9:26,572,352...26,634,596
Ensembl chr 9:26,572,361...26,634,567
G
PCNA
proliferating cell nuclear antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr17:14,137,746...14,142,584
Ensembl chr17:14,136,886...14,142,744
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APTX
aprataxin
susceptibility
ISO
ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia DNA:insertion, missense mutations: :80A>G, 95C>T, 166_167insT (human)
OMIM ClinVar RGD
PMID:11176957 PMID:11294920 PMID:11586299 PMID:11586300 PMID:12196655 PMID:12629250 PMID:14506070 PMID:15164193 PMID:15276230 PMID:15365154 PMID:15596775 PMID:15699391 PMID:15719174 PMID:15790557 PMID:15852392 PMID:15876520 PMID:15996403 PMID:16400613 PMID:16700949 PMID:17049295 PMID:17242337 PMID:18004640 PMID:18403580 PMID:21228398 PMID:21465257 PMID:21486904 PMID:21984210 PMID:23183622 PMID:23659632 PMID:24033266 PMID:24362567 PMID:25637650 PMID:25741868 PMID:26285866 PMID:26467025 PMID:28492532 PMID:28516743 PMID:28652255 PMID:28881617 PMID:29356829 PMID:29482223 PMID:29934293 PMID:30609409 PMID:31493945 PMID:32214227 PMID:32606550 PMID:32750061 PMID:33624863 More...
RGD:1599207
NCBI chr10:33,470,089...33,495,584
Ensembl chr10:33,445,148...33,543,710
G
PNKP
polynucleotide kinase 3'-phosphatase
ISO
ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
ClinVar
PMID:16199547 PMID:20118933 PMID:24033266 PMID:25728773 PMID:25741868 PMID:28492532 PMID:31167812 PMID:32504494 More...
NCBI chr 6:54,870,359...54,880,814
Ensembl chr 6:54,867,637...54,881,088
G
SETX
senataxin
ISO
ClinVar Annotator: match by term: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
ClinVar
PMID:32488064
NCBI chr 1:272,093,449...272,170,857
Ensembl chr 1:272,095,358...272,170,747
G
PIK3R5
phosphoinositide-3-kinase regulatory subunit 5
ISO
ClinVar Annotator: match by term: Ataxia with oculomotor apraxia type 3
OMIM ClinVar
PMID:22065524 PMID:25741868 PMID:28492532 PMID:33116287
NCBI chr12:53,979,206...54,046,927
Ensembl chr12:53,979,207...54,054,490
G
SACS
sacsin molecular chaperone
ISO
ClinVar Annotator: match by term: Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation
ClinVar
PMID:15156359 PMID:21507954 PMID:25741868 PMID:28492532 PMID:30460542 PMID:31692161 More...
NCBI chr11:2,382,406...2,455,756
Ensembl chr11:2,382,906...2,442,316
G
PNKP
polynucleotide kinase 3'-phosphatase
ISO
ClinVar Annotator: match by term: Ataxia - oculomotor apraxia type 4 | ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4
OMIM ClinVar
PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:17576681 PMID:18005052 PMID:18266750 PMID:18414213 PMID:18678442 PMID:18845387 PMID:20118933 PMID:21307862 PMID:21560189 PMID:22508754 PMID:23224214 PMID:23833122 PMID:24033266 PMID:24938145 PMID:25558065 PMID:25728773 PMID:25741868 PMID:26467025 PMID:27066567 PMID:27125728 PMID:27890643 PMID:28492532 PMID:29261713 PMID:29652299 PMID:29655203 PMID:29720203 PMID:30039206 PMID:31061747 PMID:31436889 PMID:31707899 PMID:32010037 PMID:32056211 PMID:32347949 PMID:32980744 PMID:33654647 PMID:34009545 PMID:34040816 PMID:35354845 More...
NCBI chr 6:54,870,359...54,880,814
Ensembl chr 6:54,867,637...54,881,088
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ATM
ATM serine/threonine kinase
ISO
ClinVar Annotator: match by term: Ataxia - telangiectasia variant
ClinVar
PMID:581456 PMID:8755819 PMID:8755918 PMID:8808599 PMID:9000145 PMID:9288106 PMID:9463314 PMID:9536098 PMID:9792410 PMID:9887333 PMID:9892178 PMID:10234507 PMID:10330348 PMID:11382771 PMID:11805335 PMID:11826028 PMID:11830610 PMID:12072552 PMID:12969974 PMID:14562025 PMID:14654357 PMID:15054841 PMID:15174027 PMID:15928302 PMID:16832357 PMID:16958054 PMID:17001622 PMID:17576681 PMID:18575927 PMID:18634022 PMID:19431188 PMID:19535770 PMID:19781682 PMID:19823873 PMID:20301790 PMID:20305132 PMID:21778326 PMID:21787400 PMID:21792198 PMID:22345219 PMID:22529920 PMID:22585167 PMID:23143971 PMID:24088041 PMID:24733792 PMID:25037873 PMID:25040471 PMID:25077176 PMID:25186627 PMID:25741868 PMID:25914063 PMID:25980754 PMID:26467025 PMID:26506520 PMID:26633545 PMID:26662178 PMID:26681312 PMID:26896183 PMID:26898890 PMID:27528516 PMID:27595995 PMID:27798748 PMID:27884168 PMID:27978560 PMID:27988859 PMID:28008555 PMID:28126470 PMID:28492532 PMID:28779002 PMID:29719442 PMID:29915382 PMID:30504431 PMID:30549301 PMID:31447099 PMID:32255556 PMID:32338768 PMID:32427313 PMID:32748564 PMID:32754152 PMID:32853339 PMID:33436325 PMID:33471991 PMID:33509806 PMID:34117267 PMID:35534218 PMID:35710434 PMID:35716007 More...
NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,552
G
C9H11orf65
chromosome 9 C11orf65 homolog
ISO
ClinVar Annotator: match by term: Ataxia - telangiectasia variant
ClinVar
PMID:581456 PMID:8755819 PMID:8755918 PMID:8808599 PMID:9000145 PMID:9288106 PMID:9463314 PMID:9792410 PMID:9887333 PMID:9892178 PMID:10234507 PMID:10330348 PMID:11382771 PMID:11805335 PMID:11826028 PMID:11830610 PMID:12072552 PMID:12969974 PMID:14562025 PMID:14654357 PMID:15174027 PMID:15928302 PMID:16832357 PMID:16958054 PMID:17001622 PMID:18575927 PMID:18634022 PMID:19431188 PMID:19781682 PMID:19823873 PMID:20301790 PMID:20305132 PMID:21787400 PMID:21792198 PMID:22345219 PMID:22529920 PMID:22585167 PMID:23143971 PMID:24088041 PMID:24733792 PMID:25037873 PMID:25040471 PMID:25077176 PMID:25186627 PMID:25741868 PMID:25914063 PMID:25980754 PMID:26467025 PMID:26506520 PMID:26633545 PMID:26662178 PMID:26681312 PMID:26896183 PMID:26898890 PMID:27528516 PMID:27595995 PMID:27798748 PMID:27884168 PMID:27978560 PMID:27988859 PMID:28008555 PMID:28492532 PMID:28779002 PMID:29719442 PMID:29915382 PMID:30504431 PMID:30549301 PMID:31447099 PMID:32255556 PMID:32338768 PMID:32427313 PMID:32748564 PMID:32754152 PMID:32853339 PMID:33436325 PMID:33471991 PMID:33509806 PMID:34117267 PMID:35710434 More...
NCBI chr 9:36,768,819...36,855,318
Ensembl chr 9:36,776,897...36,849,710
G
MRE11
MRE11 homolog, double strand break repair nuclease
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 1 | ClinVar Annotator: match by term: MRE11-related condition
OMIM ClinVar
PMID:2433832 PMID:8445618 PMID:8684395 PMID:9536098 PMID:9845372 PMID:10612394 PMID:11196167 PMID:11238951 PMID:11371508 PMID:12966088 PMID:14684699 PMID:14690604 PMID:15269180 PMID:15574463 PMID:16199547 PMID:16858402 PMID:17576681 PMID:18652530 PMID:18854157 PMID:19383352 PMID:19732584 PMID:20052722 PMID:20805886 PMID:21227757 PMID:21252998 PMID:21324166 PMID:22006311 PMID:22078559 PMID:22139912 PMID:22705791 PMID:22863007 PMID:23028188 PMID:23080121 PMID:23436002 PMID:23718828 PMID:23755103 PMID:23912341 PMID:24030952 PMID:24033266 PMID:24093751 PMID:24332946 PMID:24549055 PMID:24556621 PMID:24733832 PMID:24763289 PMID:24894818 PMID:25040471 PMID:25133958 PMID:25326635 PMID:25326637 PMID:25452441 PMID:25503501 PMID:25640679 PMID:25741868 PMID:25741913 PMID:26057807 PMID:26122175 PMID:26467025 PMID:26483394 PMID:26534844 PMID:26556299 PMID:26580448 PMID:26633542 PMID:26680607 PMID:26757417 PMID:26786923 PMID:26787654 PMID:26845104 PMID:26878173 PMID:26898890 PMID:27124789 PMID:27153395 PMID:27329137 PMID:27433846 PMID:27621404 PMID:27783279 PMID:27878467 PMID:28008555 PMID:28051113 PMID:28125075 PMID:28152038 PMID:28202063 PMID:28486781 PMID:28492532 PMID:28524162 PMID:28559769 PMID:28715532 PMID:28849312 PMID:28873162 PMID:28888541 PMID:29170652 PMID:29348823 PMID:29371908 PMID:29478780 PMID:29752822 PMID:29922827 PMID:30093976 PMID:30306255 PMID:30441849 PMID:30613976 PMID:31033087 PMID:31159747 PMID:31273614 PMID:31353207 PMID:31360874 PMID:31780696 PMID:31887429 PMID:32039725 PMID:32183364 PMID:32338768 PMID:32427313 PMID:32449991 PMID:32521533 PMID:32566746 PMID:32658311 PMID:32832836 PMID:32959997 PMID:32986223 PMID:33098801 PMID:33134171 PMID:33426167 PMID:33471991 PMID:33479248 PMID:33510186 PMID:33624863 PMID:33956305 PMID:34009545 PMID:34075539 PMID:34426522 PMID:35089076 PMID:35495172 PMID:36035419 PMID:36091175 PMID:36113475 More...
NCBI chr 9:26,572,352...26,634,596
Ensembl chr 9:26,572,361...26,634,567
G
PCNA
proliferating cell nuclear antigen
ISO
ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 2
OMIM ClinVar
PMID:24911150 PMID:25741868
NCBI chr17:14,137,746...14,142,584
Ensembl chr17:14,136,886...14,142,744
G
KIF1B
kinesin family member 1B
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy, late-onset, finkel type
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:70,495,143...70,663,464
Ensembl chr 6:70,495,144...70,661,798
G
VAPB
VAMP associated protein B and C
ISO
ClinVar Annotator: match by term: Adult proximal spinal muscular atrophy, autosomal dominant | ClinVar Annotator: match by term: Adult-onset proximal spinal muscular atrophy, autosomal dominant | ClinVar Annotator: match by term: FINKEL LATE-ADULT TYPE SMA
OMIM ClinVar
PMID:15372378 PMID:16187141 PMID:16967488 PMID:17804640 PMID:18322265 PMID:18677189 PMID:19183264 PMID:20008544 PMID:20377183 PMID:20447143 PMID:20577002 PMID:21275991 PMID:21685205 PMID:21933185 PMID:22131369 PMID:22258555 PMID:22454507 PMID:22878164 PMID:23333387 PMID:23446633 PMID:23771029 PMID:23971766 PMID:24212516 PMID:24681403 PMID:25741868 PMID:26467025 PMID:26566915 PMID:27978769 PMID:28492532 PMID:35896380 More...
NCBI chr17:58,594,749...58,644,925
Ensembl chr17:58,594,749...58,644,914
G
AFG3L2
AFG3 like matrix AAA peptidase subunit 2
ISO
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 6:97,200,890...97,234,577
Ensembl chr 6:97,200,922...97,235,366
G
DAGLA
diacylglycerol lipase alpha
ISO
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia
ClinVar
PMID:25741868
NCBI chr 2:9,802,011...9,863,808
Ensembl chr 2:9,802,012...9,863,865
G
DYNC1H1
dynein cytoplasmic 1 heavy chain 1
ISO
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia
ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:24033266 PMID:24136616 PMID:25741868 PMID:26100331 PMID:26344056 PMID:26378787 PMID:26467025 PMID:27066557 PMID:28492532 PMID:30031633 PMID:30504930 More...
G
EP300
E1A binding protein p300
ISO
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia
ClinVar
PMID:25741868 PMID:28492532 PMID:35401678
NCBI chr 5:7,311,165...7,394,515
Ensembl chr 5:7,311,171...7,393,760
G
FAT1
FAT atypical cadherin 1
ISO
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia
ClinVar
PMID:25741868 PMID:26489027 PMID:28492532
NCBI chr17:8,466,099...8,580,715
Ensembl chr17:8,457,187...8,580,715
G
FGF14
fibroblast growth factor 14
ISO
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia
ClinVar
NCBI chr11:70,251,374...70,861,941
Ensembl chr11:70,251,446...70,422,192
G
ITPR1
inositol 1,4,5-trisphosphate receptor type 1
ISO
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia
ClinVar
PMID:17590087 PMID:19423733 PMID:20437544 PMID:21367767 PMID:21555639 PMID:25741868 PMID:26467025 PMID:27108797 PMID:28492532 PMID:28659154 PMID:28660440 PMID:29186133 PMID:29232918 PMID:29758065 PMID:29925855 PMID:30564305 PMID:30778698 More...
NCBI chr13:61,068,131...61,398,918
Ensembl chr13:61,068,126...61,398,912
G
KIF26B
kinesin family member 26B
ISO
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia
ClinVar
PMID:29053796
NCBI chr10:17,708,365...18,220,052
Ensembl chr10:18,081,754...18,219,848
G
MTCL1
microtubule crosslinking factor 1
ISO
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia
ClinVar
PMID:23902687 PMID:25741868
NCBI chr 6:99,062,347...99,178,570
Ensembl chr 6:99,062,354...99,178,468
G
OPA1
OPA1 mitochondrial dynamin like GTPase
ISO
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia
ClinVar
PMID:25741868
NCBI chr13:130,624,771...130,718,345
Ensembl chr13:130,624,796...130,719,083
G
PDYN
prodynorphin
ISO
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia
ClinVar
NCBI chr17:33,505,075...33,521,534
Ensembl chr17:33,505,079...33,521,532
G
PRKCG
protein kinase C gamma
ISO
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia
ClinVar
NCBI chr 6:56,213,479...56,235,683
Ensembl chr 6:56,213,480...56,234,210
G
SPTBN2
spectrin beta, non-erythrocytic 2
ISO
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia
ClinVar
PMID:17940722 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 2:5,683,414...5,739,418
Ensembl chr 2:5,695,836...5,739,415
G
TGM6
transglutaminase 6
ISO
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia
ClinVar
PMID:26467025 PMID:28492532
NCBI chr17:33,106,974...33,142,548
Ensembl chr17:33,107,568...33,156,324
G
TTBK2
tau tubulin kinase 2
ISO
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia
ClinVar
NCBI chr 1:128,489,676...128,640,094
Ensembl chr 1:128,489,744...128,635,511
G
DNMT1
DNA methyltransferase 1
ISO
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia, deafness and narcolepsy
OMIM ClinVar
PMID:7898717 PMID:8747854 PMID:9536098 PMID:10210919 PMID:17576681 PMID:21532572 PMID:22328086 PMID:23365052 PMID:25326637 PMID:25678562 PMID:25741868 PMID:28334952 PMID:28492532 PMID:30165906 PMID:31984424 More...
NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,566...69,029,844
G
BICD2
BICD cargo adaptor 2
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant
ClinVar
PMID:8114789 PMID:22628388 PMID:23664116 PMID:23664119 PMID:23664120 PMID:24336790 PMID:25497877 PMID:25741868 PMID:26467025 PMID:27549087 PMID:27784775 PMID:28251916 PMID:28492532 PMID:28832565 PMID:28883039 PMID:32581362 More...
NCBI chr 3:42,393,270...42,456,821
Ensembl chr 3:42,393,277...42,456,782
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DYNC1H1
dynein cytoplasmic 1 heavy chain 1
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant
ClinVar
PMID:12730604 PMID:20697106 PMID:21102439 PMID:22459677 PMID:23664120 PMID:25326635 PMID:25484024 PMID:25497877 PMID:25512093 PMID:25609763 PMID:25741868 PMID:26100331 PMID:27066557 PMID:27549087 PMID:28492532 PMID:28554554 PMID:29671837 PMID:32788638 More...
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FIG4
FIG4 phosphoinositide 5-phosphatase
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant
ClinVar
NCBI chr 1:75,694,151...75,847,021
Ensembl chr 1:75,694,151...75,847,528
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GARS1
glycyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant
ClinVar
PMID:17101916 PMID:20301420 PMID:22462675 PMID:25168514
NCBI chr18:42,311,711...42,352,201
Ensembl chr18:42,311,576...42,352,162
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IGHMBP2
immunoglobulin mu DNA binding protein 2
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant
ClinVar
PMID:2545169 PMID:11528396 PMID:14681881 PMID:15108294 PMID:15797190 PMID:16199547 PMID:16964485 PMID:17431882 PMID:18802676 PMID:19157874 PMID:19158098 PMID:20859832 PMID:22157136 PMID:22965130 PMID:23449687 PMID:23566544 PMID:23929295 PMID:24022109 PMID:24033266 PMID:24342282 PMID:24388491 PMID:25280635 PMID:25439726 PMID:25454169 PMID:25568292 PMID:25741868 PMID:26467025 PMID:26709713 PMID:27450922 PMID:28403181 PMID:28492532 PMID:29761130 PMID:30598237 PMID:31020813 PMID:31211173 More...
NCBI chr 2:4,169,510...4,194,699
Ensembl chr 2:4,171,344...4,194,525
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LMNA
lamin A/C
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant
ClinVar
PMID:18585512 PMID:18926329 PMID:25741868 PMID:25886484 PMID:28152038 PMID:28492532 More...
NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320
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MORC2
MORC family CW-type zinc finger 2
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant
ClinVar
PMID:26659848 PMID:28492532 PMID:31475037
NCBI chr14:47,755,264...47,800,432
Ensembl chr14:47,755,267...47,799,628
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NEFL
neurofilament light chain
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant
ClinVar
NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,991,331...8,997,112
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SETX
senataxin
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant
ClinVar
PMID:19696032 PMID:22088787 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 1:272,093,449...272,170,857
Ensembl chr 1:272,095,358...272,170,747
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TRPV4
transient receptor potential cation channel subfamily V member 4
ISO
ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant
ClinVar
PMID:1520078 PMID:8179305 PMID:10463355 PMID:15668982 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20460441 PMID:21115951 PMID:21288981 PMID:21454511 PMID:22065612 PMID:22291064 PMID:22526352 PMID:22702953 PMID:24319099 PMID:24789864 PMID:25741868 PMID:26048687 PMID:26467025 PMID:26948711 PMID:28492532 PMID:31041394 PMID:31191204 PMID:31468327 PMID:32579787 More...
NCBI chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,578
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IGHMBP2
immunoglobulin mu DNA binding protein 2
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 1
ClinVar
PMID:14681881 PMID:25439726 PMID:25568292 PMID:25741868 PMID:28492532
NCBI chr 2:4,169,510...4,194,699
Ensembl chr 2:4,171,344...4,194,525
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EMILIN1
elastin microfibril interfacer 1
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 10
OMIM ClinVar
PMID:26462740 PMID:31978608
NCBI chr 3:112,031,910...112,039,928
Ensembl chr 3:112,031,917...112,046,429
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SPTAN1
spectrin alpha, non-erythrocytic 1
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 11
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:31332438 PMID:33206935 PMID:33578420
NCBI chr 1:268,936,120...269,002,261
Ensembl chr 1:268,936,025...269,002,256
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BICD2
BICD cargo adaptor 2
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5B
ClinVar
PMID:24002164 PMID:28492532
NCBI chr 3:42,393,270...42,456,821
Ensembl chr 3:42,393,277...42,456,782
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REEP1
receptor accessory protein 1
ISO
ClinVar Annotator: match by term: DHMN VB | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5B
OMIM ClinVar
PMID:16826527 PMID:18321925 PMID:18644145 PMID:19034539 PMID:20718791 PMID:22703882 PMID:24478229 PMID:25741868 PMID:26467025 PMID:28492532 PMID:34193129 More...
NCBI chr 3:58,436,319...58,558,943
Ensembl chr 3:58,436,324...58,558,934
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BSCL2
BSCL2 lipid droplet biogenesis associated, seipin
ISO
ClinVar Annotator: match by term: DHMN VC | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5C | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, HARDING TYPE VC
OMIM ClinVar
PMID:1674639 PMID:5964029 PMID:11479539 PMID:12362029 PMID:14981520 PMID:15126564 PMID:15732094 PMID:16427281 PMID:16574104 PMID:17387721 PMID:17486577 PMID:18585921 PMID:18790819 PMID:19226263 PMID:19396477 PMID:20301391 PMID:20598714 PMID:20806400 PMID:21750110 PMID:21957196 PMID:22045697 PMID:22474068 PMID:23142943 PMID:23292937 PMID:23553728 PMID:24345054 PMID:24451228 PMID:24604904 PMID:25219579 PMID:25454168 PMID:25487175 PMID:25741868 PMID:25832430 PMID:26072926 PMID:26467025 PMID:26815532 PMID:26989944 PMID:27027447 PMID:27549087 PMID:27738760 PMID:27862672 PMID:28362824 PMID:28492532 PMID:31372974 PMID:31475473 PMID:32320108 PMID:32397312 More...
NCBI chr 2:9,052,676...9,064,890
Ensembl chr 2:9,052,070...9,064,886
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DCTN1
dynactin subunit 1
ISO
ClinVar Annotator: match by term: LOWER MOTOR NEURON DISEASE, DYNACTIN TYPE | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, WITH VOCAL CORD PARALYSIS, HARDING TYPE VIIB | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7B
OMIM ClinVar
PMID:9536098 PMID:12062019 PMID:12627231 PMID:15326253 PMID:16199547 PMID:16505168 PMID:17576681 PMID:17824900 PMID:18094236 PMID:18364389 PMID:18812314 PMID:19279216 PMID:19506225 PMID:22777741 PMID:23143281 PMID:24627108 PMID:25025039 PMID:25299611 PMID:25382069 PMID:25590979 PMID:25635128 PMID:25741868 PMID:26392352 PMID:26429889 PMID:26467025 PMID:26662454 PMID:26742954 PMID:27132499 PMID:27573046 PMID:28130640 PMID:28430856 PMID:28492532 PMID:28518168 PMID:28717666 PMID:28792508 PMID:29525180 PMID:32028661 PMID:32402491 PMID:32461654 PMID:33369814 PMID:33408239 PMID:33973882 More...
NCBI chr 3:68,642,562...68,673,605
Ensembl chr 3:68,643,247...68,673,604
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DYNC1H1
dynein cytoplasmic 1 heavy chain 1
ISO
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar
PMID:25635128
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GARS1
glycyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar
PMID:25635128
NCBI chr18:42,311,711...42,352,201
Ensembl chr18:42,311,576...42,352,162
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MFN2
mitofusin 2
ISO
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar
PMID:16199547 PMID:16714318 PMID:18425620 PMID:21715711 PMID:22206013 PMID:26955893 PMID:28492532 More...
NCBI chr 6:72,026,512...72,056,439
Ensembl chr 6:72,028,499...72,056,438
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MPZ
myelin protein zero
ISO
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar
PMID:7693129 PMID:20571287 PMID:25694466 PMID:28492532
NCBI chr 4:89,174,107...89,179,556
Ensembl chr 4:89,169,311...89,179,925
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NEFL
neurofilament light chain
ISO
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,991,331...8,997,112
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PLEKHG5
pleckstrin homology and RhoGEF domain containing G5
ISO
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar
PMID:16728649 PMID:17564964
NCBI chr 6:67,316,818...67,373,787
Ensembl chr 6:67,321,534...67,362,838
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SCN11A
sodium voltage-gated channel alpha subunit 11
ISO
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar
PMID:24776970 PMID:25741868 PMID:28492532
NCBI chr13:23,602,378...23,692,281
Ensembl chr13:23,602,977...23,692,220
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SETX
senataxin
ISO
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar
PMID:24533459
NCBI chr 1:272,093,449...272,170,857
Ensembl chr 1:272,095,358...272,170,747
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SH3TC2
SH3 domain and tetratricopeptide repeats 2
ISO
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar
PMID:26467025 PMID:28492532
NCBI chr 2:150,183,480...150,247,747
Ensembl chr 2:150,183,485...150,247,637
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TRPV4
transient receptor potential cation channel subfamily V member 4
ISO
ClinVar Annotator: match by term: Genetic motor neuron disease
ClinVar
PMID:20037586 PMID:20037587 PMID:20037588 PMID:20460441 PMID:21336783 PMID:22702953 PMID:24575025 PMID:24789864 PMID:24963089 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26467025 PMID:26948711 PMID:27751652 PMID:28492532 More...
NCBI chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,578
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FBXO38
F-box protein 38
ISO
ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2
ClinVar
PMID:7723957 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24207122 PMID:25741868 PMID:28166811 PMID:28492532 PMID:31420593 PMID:32579787 More...
NCBI chr 2:149,674,300...149,722,875
Ensembl chr 2:149,674,448...149,722,865
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HSPB8
heat shock protein family B (small) member 8
ISO
ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2A
OMIM ClinVar
PMID:1517763 PMID:15122253 PMID:17344846 PMID:20538880 PMID:21985219 PMID:25741868 PMID:26467025 PMID:26718575 PMID:26986878 PMID:28251916 PMID:28492532 PMID:32376792 More...
NCBI chr14:33,626,125...33,639,824
Ensembl chr14:33,626,120...33,640,792
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MPZ
myelin protein zero
ISO
ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2
ClinVar
PMID:9452091 PMID:10071056 PMID:10329755 PMID:10764043 PMID:10835936 PMID:10923043 PMID:11080237 PMID:12207153 PMID:12911457 PMID:12948789 PMID:15159512 PMID:15377707 PMID:16279991 PMID:16775239 PMID:18337304 PMID:19629567 PMID:19928689 PMID:20461396 PMID:25720167 PMID:25741868 PMID:26234237 PMID:26467025 PMID:28492532 PMID:29687021 PMID:31211173 PMID:31827005 More...
NCBI chr 4:89,174,107...89,179,556
Ensembl chr 4:89,169,311...89,179,925
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HSPB1
heat shock protein family B (small) member 1
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2B
OMIM ClinVar
PMID:9536098 PMID:11528513 PMID:15122254 PMID:16087758 PMID:16155736 PMID:16215937 PMID:16368711 PMID:17576681 PMID:17623484 PMID:17881652 PMID:18325928 PMID:18587268 PMID:18832141 PMID:20178975 PMID:20660910 PMID:21149811 PMID:21785432 PMID:21971574 PMID:22031878 PMID:22057845 PMID:22176143 PMID:22484489 PMID:22734906 PMID:23379525 PMID:23530264 PMID:23643870 PMID:23728742 PMID:23963299 PMID:24505562 PMID:24607769 PMID:24719117 PMID:25025039 PMID:25220807 PMID:25614874 PMID:25741868 PMID:25965061 PMID:25999205 PMID:26077850 PMID:26141737 PMID:26467025 PMID:26675522 PMID:26752306 PMID:26986878 PMID:26989944 PMID:27816334 PMID:27830184 PMID:28105056 PMID:28144995 PMID:28286897 PMID:28492532 PMID:28547731 PMID:28595321 PMID:28702508 PMID:29031079 PMID:29048431 PMID:29330367 PMID:29381233 PMID:29547183 PMID:30669930 PMID:30758704 PMID:31069529 PMID:31573509 PMID:31630804 PMID:32301006 PMID:32323160 PMID:32334137 PMID:32376792 PMID:33509756 PMID:33943041 PMID:35328016 PMID:36291591 More...
NCBI chr 3:10,038,074...10,039,441
Ensembl chr 3:10,037,949...10,039,704
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HSPB3
heat shock protein family B (small) member 3
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2C
OMIM ClinVar
PMID:8972725 PMID:20142617 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31785789 PMID:32397312 More...
NCBI chr16:33,716,458...33,717,402
Ensembl chr16:33,716,626...33,719,018
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BSCL2
BSCL2 lipid droplet biogenesis associated, seipin
ISO
ClinVar Annotator: match by term: DHMN VA | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A
ClinVar
PMID:1674639 PMID:5964029 PMID:11479539 PMID:14557463 PMID:14981520 PMID:15126564 PMID:15732094 PMID:16427281 PMID:16574104 PMID:17387721 PMID:17486577 PMID:18585921 PMID:18690553 PMID:18790819 PMID:19226263 PMID:19396477 PMID:20598714 PMID:20806400 PMID:21750110 PMID:21957196 PMID:22045697 PMID:22474068 PMID:23553728 PMID:23963299 PMID:23989774 PMID:24345054 PMID:24604904 PMID:25219579 PMID:25454168 PMID:25487175 PMID:25588603 PMID:25741868 PMID:25832430 PMID:26467025 PMID:26815532 PMID:26989944 PMID:27027447 PMID:27144933 PMID:27738760 PMID:27862672 PMID:28362824 PMID:28492532 PMID:31372974 PMID:31475473 PMID:31824185 PMID:32320108 PMID:35351089 More...
NCBI chr 2:9,052,676...9,064,890
Ensembl chr 2:9,052,070...9,064,886
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GARS1
glycyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: DHMN VA | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5 | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A
OMIM ClinVar
PMID:8541851 PMID:9879677 PMID:12690580 PMID:16014653 PMID:16534118 PMID:16769947 PMID:17035524 PMID:17101916 PMID:17545306 PMID:17595294 PMID:17663003 PMID:19329989 PMID:20301420 PMID:23279345 PMID:24354524 PMID:24604904 PMID:24627108 PMID:25058219 PMID:25168514 PMID:25476837 PMID:25614874 PMID:25635128 PMID:25741868 PMID:26244500 PMID:26392352 PMID:26467025 PMID:26503042 PMID:27008886 PMID:27582484 PMID:27790088 PMID:27862672 PMID:28160950 PMID:28251916 PMID:28492532 PMID:28594869 PMID:29520015 PMID:29648643 PMID:29858556 PMID:30643024 PMID:31591847 PMID:31628756 PMID:31827005 PMID:31832804 PMID:31985473 PMID:32376792 PMID:32909314 PMID:33381078 More...
NCBI chr18:42,311,711...42,352,201
Ensembl chr18:42,311,576...42,352,162
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PNPO
pyridoxamine 5'-phosphate oxidase
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A
ClinVar
PMID:24266778 PMID:24645144 PMID:24658933 PMID:24781210 PMID:25741868 PMID:25762494 PMID:28492532 More...
NCBI chr12:24,192,848...24,201,419
Ensembl chr12:24,192,897...24,201,411
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REEP1
receptor accessory protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 3:58,436,319...58,558,943
Ensembl chr 3:58,436,324...58,558,934
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FBXO38
F-box protein 38
ISO
ClinVar Annotator: match by term: FBXO38-related condition | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2D
OMIM ClinVar
PMID:7723957 PMID:24207122 PMID:25741868 PMID:25741905 PMID:28492532 PMID:31420593 PMID:32579787 More...
NCBI chr 2:149,674,300...149,722,875
Ensembl chr 2:149,674,448...149,722,865
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CCDC138
coiled-coil domain containing 138
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
ClinVar
PMID:28492532
NCBI chr 3:47,470,649...47,525,606
Ensembl chr 3:47,470,709...47,523,529
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EDAR
ectodysplasin A receptor
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
ClinVar
PMID:28492532
NCBI chr 3:47,396,303...47,466,234
Ensembl chr 3:47,396,330...47,465,784
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GCC2
GRIP and coiled-coil domain containing 2
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
ClinVar
PMID:28492532
NCBI chr 3:47,718,251...47,759,060
Ensembl chr 3:47,718,254...47,758,999
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LIMS1
LIM zinc finger domain containing 1
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
ClinVar
PMID:28492532
NCBI chr 3:47,607,737...47,704,921
Ensembl chr 3:47,606,230...47,672,884
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LOC100511376
E3 SUMO-protein ligase RanBP2
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
ClinVar
PMID:28492532
NCBI chr 3:47,531,362...47,601,328
Ensembl chr 3:47,531,359...47,601,495
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LOC100623441
sulfotransferase 1C4
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
ClinVar
PMID:28492532
NCBI chr 3:47,765,022...47,777,178
Ensembl chr 3:47,766,407...47,776,867
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SLC5A7
solute carrier family 5 member 7
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia
OMIM ClinVar
PMID:7420092 PMID:9536098 PMID:11294660 PMID:16199547 PMID:17576681 PMID:23141292 PMID:25741868 PMID:27569547 PMID:28492532 PMID:33250374 PMID:36703223 More...
NCBI chr 3:47,994,116...48,020,744
Ensembl chr 3:47,996,335...48,022,379
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SULT1C2
sulfotransferase family 1C member 2
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
ClinVar
PMID:28492532
NCBI chr 3:47,807,830...47,824,199
Ensembl chr 3:47,807,832...47,824,187
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SULT1C3
sulfotransferase family 1C member 3
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A
ClinVar
PMID:28492532
NCBI chr 3:47,838,671...47,864,646
Ensembl chr 3:47,838,558...47,856,943
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TRPV4
transient receptor potential cation channel subfamily V member 4
ISO
ClinVar Annotator: match by term: Autosomal dominant congenital benign spinal muscular atrophy | ClinVar Annotator: match by term: Distal spinal muscular atrophy, congenital nonprogressive | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 8
OMIM ClinVar
PMID:4056805 PMID:8179305 PMID:10463355 PMID:15668982 PMID:17879966 PMID:19232556 PMID:19661060 PMID:19666518 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20460441 PMID:20503319 PMID:20577006 PMID:21115951 PMID:21288981 PMID:21336783 PMID:21454511 PMID:21573172 PMID:21658220 PMID:21964574 PMID:22065612 PMID:22291064 PMID:22419508 PMID:22526352 PMID:22675077 PMID:22689196 PMID:22702953 PMID:22851605 PMID:24575025 PMID:24789864 PMID:24963089 PMID:25256292 PMID:25326637 PMID:25741868 PMID:25900305 PMID:26048687 PMID:26110311 PMID:26377240 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27549087 PMID:27751652 PMID:28251916 PMID:28492532 PMID:28687525 PMID:28898540 PMID:29776788 PMID:29858556 PMID:30230566 PMID:30373780 PMID:31041394 PMID:31191204 PMID:31475037 PMID:32376792 PMID:32381727 PMID:32579787 PMID:33060286 PMID:34008892 More...
NCBI chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,578
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WARS1
tryptophanyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IX | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 9
OMIM ClinVar
PMID:25741868 PMID:28369220 PMID:31069783 PMID:31321409
NCBI chr 7:121,212,981...121,238,144
Ensembl chr 7:121,212,981...121,238,113
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ANO10
anoctamin 10
ISO
ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia
ClinVar
PMID:24033266 PMID:25089919 PMID:25133958 PMID:25182700 PMID:25664549 PMID:25664551 PMID:25741868 PMID:26467025 PMID:27045840 PMID:27142713 PMID:28492532 PMID:29482223 PMID:29915382 PMID:30078120 PMID:30838263 More...
NCBI chr13:26,734,098...27,006,163
Ensembl chr13:26,734,107...27,006,539
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COQ8A
coenzyme Q8A
ISO
ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:29482223
NCBI chr10:14,597,237...14,643,394
Ensembl chr10:14,596,599...14,643,772
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PRDX3
peroxiredoxin 3
ISO
ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia
ClinVar
PMID:25741868 PMID:35792670
NCBI chr14:129,079,050...129,090,790
Ensembl chr14:129,079,051...129,090,830
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SEPTIN11
septin 11
ISO
ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia
ClinVar
PMID:25741868 PMID:31673878
NCBI chr 8:72,543,641...72,679,173
Ensembl chr 8:72,543,621...72,679,171
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SPTBN2
spectrin beta, non-erythrocytic 2
ISO
ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia
ClinVar
PMID:26467025 PMID:28492532
NCBI chr 2:5,683,414...5,739,418
Ensembl chr 2:5,695,836...5,739,415
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SYNE1
spectrin repeat containing nuclear envelope protein 1
ISO
ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia
ClinVar
PMID:16199547 PMID:17159980 PMID:19542096 PMID:24033266 PMID:24319099 PMID:25741868 PMID:25843669 PMID:26467025 PMID:27086870 PMID:27782104 PMID:28492532 PMID:31103315 More...
NCBI chr 1:13,715,644...14,201,711
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TDP1
tyrosyl-DNA phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia
ClinVar
NCBI chr 7:111,767,094...111,853,262
Ensembl chr 7:111,767,089...111,853,249
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TWNK
twinkle mtDNA helicase
ISO
ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia
ClinVar
PMID:17614277 PMID:20479361 PMID:20659899 PMID:21689831 PMID:24018892 PMID:25355836 PMID:25741868 PMID:25741909 PMID:26206283 PMID:26467025 PMID:26970254 PMID:27551684 PMID:28178980 PMID:28454995 PMID:28492532 PMID:29458409 PMID:30770810 PMID:30799093 PMID:31852434 PMID:32619254 PMID:33095980 PMID:35011763 PMID:35286480 PMID:35982159 More...
NCBI chr14:112,068,463...112,076,169
Ensembl chr14:112,069,925...112,075,792
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VPS13D
vacuolar protein sorting 13 homolog D
ISO
ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia
ClinVar
PMID:25741868
NCBI chr 6:72,256,865...72,514,256
Ensembl chr 6:72,256,828...72,510,058
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COL6A3
collagen type VI alpha 3 chain
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive
ClinVar
PMID:9536098 PMID:17576681 PMID:28492532
NCBI chr15:137,011,549...137,103,687
Ensembl chr15:137,011,433...137,103,709
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IGHMBP2
immunoglobulin mu DNA binding protein 2
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 1 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Neuronopathy, severe infantile axonal, with respiratory failure | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DIAPHRAGMATIC | ClinVar Annotator: match by term: Severe infantile axonal neuropathy with respiratory failure
OMIM ClinVar
PMID:2545169 PMID:9536098 PMID:11528396 PMID:14506069 PMID:14681881 PMID:15108294 PMID:15269181 PMID:15503272 PMID:15599641 PMID:15797190 PMID:16199547 PMID:16765827 PMID:16964485 PMID:17431882 PMID:17576681 PMID:18802676 PMID:19157874 PMID:19158098 PMID:20031928 PMID:20859832 PMID:21353777 PMID:21360834 PMID:22157136 PMID:22791546 PMID:22965130 PMID:23449687 PMID:23566544 PMID:23806086 PMID:23929295 PMID:24022109 PMID:24033266 PMID:24088041 PMID:24388491 PMID:25280635 PMID:25326635 PMID:25326637 PMID:25439726 PMID:25454169 PMID:25473036 PMID:25568292 PMID:25741868 PMID:25741915 PMID:26136520 PMID:26257172 PMID:26298607 PMID:26392352 PMID:26467025 PMID:26633542 PMID:26709713 PMID:26922252 PMID:27450922 PMID:27727376 PMID:28065684 PMID:28202949 PMID:28251916 PMID:28397221 PMID:28403181 PMID:28492532 PMID:28765793 PMID:28902413 PMID:29653221 PMID:29761130 PMID:29858556 PMID:30373780 PMID:30409445 PMID:30598237 PMID:30755392 PMID:30863264 PMID:31019026 PMID:31020813 PMID:31178897 PMID:31211173 PMID:32154989 PMID:32190976 PMID:32376792 PMID:32488064 PMID:32573669 PMID:32709422 PMID:33258288 PMID:33369814 PMID:34169998 PMID:34190362 PMID:34255403 PMID:34539730 More...
NCBI chr 2:4,169,510...4,194,699
Ensembl chr 2:4,171,344...4,194,525
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VRK1
VRK serine/threonine kinase 1
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 10
OMIM ClinVar
PMID:19646678 PMID:24126608 PMID:25356970 PMID:25741868 PMID:25741915 PMID:27281532 PMID:28492532 PMID:30617279 PMID:30847374 PMID:31090908 PMID:31527692 PMID:31837156 PMID:32298515 PMID:34169149 More...
NCBI chr 7:117,942,929...118,025,991
Ensembl chr 7:117,942,973...118,028,923
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ARHGEF39
Rho guanine nucleotide exchange factor 39
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 1:236,383,684...236,387,705
Ensembl chr 1:236,383,925...236,387,667
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ARID3C
AT-rich interaction domain 3C
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr10:32,171,233...32,187,239
Ensembl chr10:32,172,871...32,180,604
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ATOSB
atos homolog B
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 1:235,895,613...235,907,142
Ensembl chr 1:235,895,621...235,907,113
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CA9
carbonic anhydrase 9
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 1:236,393,727...236,400,994
Ensembl chr 1:236,394,306...236,400,822
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CCDC107
coiled-coil domain containing 107
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 1:236,380,572...236,383,671
Ensembl chr 1:236,380,577...236,383,666
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CCIN
calicin
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 1:236,947,871...236,950,447
Ensembl chr 1:236,948,636...236,950,402
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CCL19
C-C motif chemokine ligand 19
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr10:32,110,366...32,112,529
Ensembl chr10:32,110,065...32,112,734
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CCL21
C-C motif chemokine ligand 21
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr10:32,093,783...32,094,482
Ensembl chr10:32,093,763...32,096,224
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CCL27
C-C motif chemokine ligand 27
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr10:32,138,232...32,138,980
Ensembl chr10:32,138,232...32,138,974
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CD72
CD72 molecule
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 1:236,345,894...236,355,755
Ensembl chr 1:236,345,903...236,355,702
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CIMIP2B
ciliary microtubule inner protein 2B
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 1:236,322,893...236,325,008
Ensembl chr 1:236,322,897...236,324,981
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CLTA
clathrin light chain A
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 1:236,971,317...236,993,291
Ensembl chr 1:236,971,505...237,001,731
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CNTFR
ciliary neurotrophic factor receptor
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr10:32,211,809...32,251,412
Ensembl chr10:32,211,777...32,251,503
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CREB3
cAMP responsive element binding protein 3
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 1:236,450,573...236,456,381
Ensembl chr 1:236,450,573...236,456,375
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DCTN3
dynactin subunit 3
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr10:32,180,557...32,187,239
Ensembl chr10:32,180,613...32,188,059
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DNAI1
dynein axonemal intermediate chain 1
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr10:32,275,173...32,355,444
Ensembl chr10:32,275,175...32,355,399
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DNAJB2
DnaJ heat shock protein family (Hsp40) member B2
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 2
ClinVar
PMID:22522442 PMID:24627108 PMID:25274842 PMID:25741868 PMID:26752306 PMID:27083531 PMID:28492532 More...
NCBI chr15:121,319,897...121,335,927
Ensembl chr15:121,319,982...121,335,991
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DNAJB5
DnaJ heat shock protein family (Hsp40) member B5
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 1:235,790,657...235,799,385
Ensembl chr 1:235,790,749...235,799,381
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ENHO
energy homeostasis associated
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr10:32,273,136...32,275,177
Ensembl chr10:32,273,086...32,275,114
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FAM221B
family with sequence similarity 221 member B
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 1:236,538,172...236,551,064
Ensembl chr 1:236,539,262...236,547,959
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FANCG
FA complementation group G
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 1:235,871,073...235,879,604
Ensembl chr 1:235,871,075...235,877,974
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GALT
galactose-1-phosphate uridylyltransferase
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr10:32,151,150...32,154,792
Ensembl chr10:32,151,177...32,154,740
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GBA2
glucosylceramidase beta 2
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 1:236,456,238...236,467,887
Ensembl chr 1:236,455,240...236,468,210
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GLIPR2
GLI pathogenesis related 2
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 1:236,919,821...236,943,828
Ensembl chr 1:236,919,879...236,943,823
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GNE
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 1:236,998,754...237,065,819
Ensembl chr 1:236,998,757...237,065,767
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HINT2
histidine triad nucleotide binding protein 2
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 1:236,532,316...236,535,263
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HRCT1
histidine rich carboxyl terminus 1
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 1:236,670,418...236,671,435
Ensembl chr 1:236,670,604...236,670,948
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IL11RA
interleukin 11 receptor subunit alpha
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr10:32,138,984...32,149,315
Ensembl chr10:32,139,063...32,146,138
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LOC100157239
olfactory receptor 13J1-like
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 1:236,595,655...236,597,257
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LOC100519461
olfactory receptor 2S2
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 1:236,709,468...236,712,100
Ensembl chr 1:236,709,673...236,710,632
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MSMP
microseminoprotein, prostate associated
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 1:236,472,652...236,473,664
Ensembl chr 1:236,472,424...236,473,862
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NPR2
natriuretic peptide receptor 2
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 1:236,508,994...236,529,172
Ensembl chr 1:236,508,998...236,529,128
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PHF24
PHD finger protein 24
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 1:235,757,499...235,783,053
Ensembl chr 1:235,757,797...235,783,051
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PIGO
phosphatidylinositol glycan anchor biosynthesis class O
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 1:235,880,088...235,888,338
Ensembl chr 1:235,878,355...235,887,993
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RECK
reversion inducing cysteine rich protein with kazal motifs
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 1:236,821,243...236,898,280
Ensembl chr 1:236,821,414...236,898,276
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RGP1
RGP1 homolog, RAB6A GEF complex partner 1
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 1:236,468,115...236,478,347
Ensembl chr 1:236,468,320...236,477,683
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RPP25L
ribonuclease P/MRP subunit p25 like
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr10:32,189,182...32,191,429
Ensembl chr10:32,189,204...32,191,426
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RUSC2
RUN and SH3 domain containing 2
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 1:236,265,915...236,322,958
Ensembl chr 1:236,299,344...236,322,953
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SIGMAR1
sigma non-opioid intracellular receptor 1
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2 | ClinVar Annotator: match by term: Spinal muscular atrophy, Jerash type
OMIM ClinVar
PMID:16199547 PMID:21031579 PMID:21842496 PMID:24088041 PMID:25175561 PMID:25261976 PMID:25704016 PMID:25741868 PMID:26078401 PMID:26205306 PMID:26366463 PMID:26467025 PMID:26633545 PMID:27042935 PMID:27402882 PMID:27629094 PMID:27821430 PMID:28160950 PMID:28492532 PMID:28622300 PMID:28708278 PMID:29115704 PMID:29411640 PMID:30079398 PMID:30266269 PMID:30311446 PMID:31324122 PMID:31511340 PMID:31696229 PMID:32055286 PMID:32579787 PMID:33020464 PMID:33369814 PMID:33618928 More...
NCBI chr10:32,160,767...32,163,540
Ensembl chr10:32,160,822...32,164,718
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SIT1
signaling threshold regulating transmembrane adaptor 1
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 1:236,371,708...236,373,414
Ensembl chr 1:236,371,699...236,373,419
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SPAG8
sperm associated antigen 8
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 1:236,526,659...236,532,181
Ensembl chr 1:236,529,269...236,534,734
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SPATA31F3
SPATA31 subfamily F member 3
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 1:235,677,529...235,687,421
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SPATA31G1
SPATA31 subfamily G member 1
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 1:235,844,826...235,849,556
Ensembl chr 1:235,842,554...235,848,767
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STOML2
stomatin like 2
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 1:235,891,479...235,894,944
Ensembl chr 1:235,890,679...235,894,737
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TESK1
testis associated actin remodelling kinase 1
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 1:236,341,160...236,345,964
Ensembl chr 1:236,341,261...236,345,962
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TLN1
talin 1
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 1:236,416,041...236,450,978
Ensembl chr 1:236,416,044...236,450,922
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TMEM8B
transmembrane protein 8B
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 1:236,550,759...236,583,635
Ensembl chr 1:236,551,434...236,584,376
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TPM2
tropomyosin 2
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 1:236,402,249...236,410,390
Ensembl chr 1:236,402,251...236,410,905
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UNC13B
unc-13 homolog B
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 1:235,918,751...236,158,098
Ensembl chr 1:235,918,747...236,158,098
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VCP
valosin containing protein
ISO
ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2
ClinVar
PMID:28492532
NCBI chr 1:235,854,532...235,869,712
Ensembl chr 1:235,851,206...235,869,634
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PLEKHG5
pleckstrin homology and RhoGEF domain containing G5
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 4 | ClinVar Annotator: match by term: PLEKHG5-related condition
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:16728649 PMID:17564964 PMID:17576681 PMID:23777631 PMID:23844677 PMID:24497998 PMID:25326637 PMID:25741868 PMID:26392352 PMID:26416026 PMID:26752306 PMID:28160950 PMID:28492532 PMID:28617965 PMID:29177109 PMID:29597095 PMID:33220101 PMID:34602496 More...
NCBI chr 6:67,316,818...67,373,787
Ensembl chr 6:67,321,534...67,362,838
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TNFRSF25
TNF receptor superfamily member 25
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 4
ClinVar
NCBI chr 6:67,316,818...67,321,442
Ensembl chr 6:67,316,825...67,321,442
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DES
desmin
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5
ClinVar
PMID:28492532
NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,642...121,435,423
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DNAJB2
DnaJ heat shock protein family (Hsp40) member B2
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22522442 PMID:23806086 PMID:24088041 PMID:24627108 PMID:25274842 PMID:25741868 PMID:26257172 PMID:26752306 PMID:27083531 PMID:27449489 PMID:28492532 PMID:32376792 More...
NCBI chr15:121,319,897...121,335,927
Ensembl chr15:121,319,982...121,335,991
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DNPEP
aspartyl aminopeptidase
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5
ClinVar
PMID:28492532
NCBI chr15:121,391,746...121,404,138
Ensembl chr15:121,391,746...121,412,864
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PTPRN
protein tyrosine phosphatase receptor type N
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5
ClinVar
PMID:28492532
NCBI chr15:121,329,284...121,349,228
Ensembl chr15:121,329,287...121,349,168
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RESP18
regulated endocrine specific protein 18
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5
ClinVar
PMID:28492532
NCBI chr15:121,364,165...121,371,430
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REEP1
receptor accessory protein 1
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 6
OMIM ClinVar
PMID:21618648 PMID:25741868 PMID:31872057 PMID:34193129
NCBI chr 3:58,436,319...58,558,943
Ensembl chr 3:58,436,324...58,558,934
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VWA1
von Willebrand factor A domain containing 1
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 7 | ClinVar Annotator: match by term: Neuropathy, hereditary motor, with myopathic features
OMIM ClinVar
PMID:25741868 PMID:33459760
NCBI chr 6:63,695,195...63,700,296
Ensembl chr 6:63,694,979...63,700,287
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SORD
sorbitol dehydrogenase
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 8
OMIM ClinVar
PMID:8622605 PMID:25741868 PMID:32367058 PMID:32457452 PMID:33201363 PMID:33381078 PMID:33397963 PMID:33875678 PMID:34819907 More...
NCBI chr 1:126,659,198...126,701,084
Ensembl chr 1:126,655,156...126,701,138
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COQ7
coenzyme Q7, hydroxylase
ISO
ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 9
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30369941 PMID:35782625 PMID:36454683 PMID:36758993 PMID:37077559 PMID:37392700 More...
NCBI chr 3:26,366,006...26,373,604
Ensembl chr 3:26,366,000...26,373,584
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ANO10
anoctamin 10
ISO
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 10
OMIM ClinVar
PMID:16199547 PMID:21092923 PMID:24033266 PMID:25089919 PMID:25133958 PMID:25182700 PMID:25425649 PMID:25664549 PMID:25664551 PMID:25730773 PMID:25741868 PMID:25976027 PMID:26467025 PMID:27045840 PMID:27091155 PMID:27142713 PMID:27270446 PMID:28492532 PMID:29482223 PMID:29915382 PMID:30078120 PMID:30515630 PMID:30838263 PMID:31477691 PMID:32620747 PMID:32816195 PMID:33223419 PMID:33624863 PMID:34234304 PMID:34445196 PMID:34906502 More...
NCBI chr13:26,734,098...27,006,163
Ensembl chr13:26,734,107...27,006,539
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SYT14
synaptotagmin 14
ISO
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 11
OMIM ClinVar
PMID:21835308 PMID:25741868 PMID:26467025
NCBI chr 9:132,810,526...133,040,855
Ensembl chr 9:132,817,948...133,040,792
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MAF
MAF bZIP transcription factor
ISO
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12
ClinVar
PMID:24369382 PMID:25741868 PMID:26467025 PMID:27854218 PMID:27959697 PMID:28492532 PMID:29358611 PMID:32214227 More...
NCBI chr 6:8,468,736...8,910,012
Ensembl chr 6:8,468,413...8,485,030
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WWOX
WW domain containing oxidoreductase
ISO
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12 | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY
OMIM ClinVar
PMID:9536098 PMID:11572989 PMID:16199547 PMID:17470496 PMID:17576681 PMID:20480411 PMID:21983861 PMID:24082139 PMID:24369382 PMID:24456803 PMID:25411445 PMID:25558065 PMID:25612104 PMID:25741868 PMID:25741916 PMID:26467025 PMID:27717089 PMID:27854218 PMID:27884173 PMID:27959697 PMID:28492532 PMID:29358611 PMID:29675105 PMID:29808465 PMID:29852413 PMID:29905011 PMID:30356099 PMID:30853297 PMID:31216405 PMID:32214227 PMID:35573960 More...
NCBI chr 6:8,910,209...9,871,048
Ensembl chr 6:8,910,138...9,871,053
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GRM1
glutamate metabotropic receptor 1
ISO
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 13 | ClinVar Annotator: match by term: GRM1-related condition
OMIM ClinVar
PMID:19146831 PMID:19924463 PMID:22448230 PMID:22558107 PMID:25741868 PMID:25741889 PMID:26308914 PMID:26467025 PMID:28492532 PMID:31319223 More...
NCBI chr 1:19,183,221...19,572,853
Ensembl chr 1:19,183,218...19,572,853
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PRKCG
protein kinase C gamma
ISO
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 14
ClinVar
PMID:25741868
NCBI chr 6:56,213,479...56,235,683
Ensembl chr 6:56,213,480...56,234,210
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SPTBN2
spectrin beta, non-erythrocytic 2
ISO
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 14 | ClinVar Annotator: match by term: SPTBN2-related condition
OMIM ClinVar
PMID:17940722 PMID:23236289 PMID:23838597 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29196973 PMID:29590070 More...
NCBI chr 2:5,683,414...5,739,418
Ensembl chr 2:5,695,836...5,739,415
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RUBCN
rubicon autophagy regulator
ISO
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 15
OMIM ClinVar
PMID:20826435 PMID:23728897 PMID:25741868 PMID:28492532 PMID:30237576 PMID:32450808 More...
NCBI chr13:134,299,971...134,363,620
Ensembl chr13:134,299,152...134,353,374
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JMJD8
jumonji domain containing 8
ISO
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16
ClinVar
PMID:24113144 PMID:24719489 PMID:24742043 PMID:25741868 PMID:28492532 PMID:31571321 More...
NCBI chr 3:41,090,787...41,093,620
Ensembl chr 3:41,090,788...41,093,614
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RHBDL1
rhomboid like 1
ISO
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16
ClinVar
PMID:25741868
NCBI chr 3:41,096,881...41,099,582
Ensembl chr 3:41,096,884...41,099,587
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STUB1
STIP1 homology and U-box containing protein 1
ISO
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16
OMIM ClinVar
PMID:24113144 PMID:24312598 PMID:24719489 PMID:24742043 PMID:25258038 PMID:25741868 PMID:28193272 PMID:28193273 PMID:28396517 PMID:28444220 PMID:28492532 PMID:29317501 PMID:29915382 PMID:31571321 PMID:32367277 PMID:33097556 PMID:33200713 PMID:33417001 PMID:34234304 PMID:34663476 More...
NCBI chr 3:41,092,514...41,095,181
Ensembl chr 3:41,092,449...41,095,136
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WDR24
WD repeat domain 24
ISO
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 16
ClinVar
PMID:25741868
NCBI chr 3:41,085,415...41,090,628
Ensembl chr 3:41,085,463...41,090,610
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CWF19L1
CWF19 like cell cycle control factor 1
ISO
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 17
OMIM ClinVar
PMID:15981765 PMID:16199547 PMID:18414213 PMID:25361784 PMID:25741868 PMID:26197978 PMID:27016154 PMID:28492532 More...
NCBI chr14:111,354,597...111,388,911
Ensembl chr14:111,354,603...111,387,737
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GRID2
glutamate ionotropic receptor delta type subunit 2
ISO
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 18
OMIM ClinVar
PMID:23611888 PMID:24078737 PMID:25741868 PMID:27980096 PMID:28492532
NCBI chr 8:125,821,195...127,130,617
Ensembl chr 8:125,819,951...127,129,763
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SLC9A1
solute carrier family 9 member A1
ISO
ClinVar Annotator: match by term: Lichtenstein-Knorr syndrome
OMIM ClinVar
PMID:25205112 PMID:25741868 PMID:28492532 PMID:30018422
NCBI chr 6:84,373,921...84,426,447
Ensembl chr 6:84,372,649...84,426,997
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PMPCA
peptidase, mitochondrial processing subunit alpha
ISO
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 2 | ClinVar Annotator: match by term: CPD III
OMIM ClinVar
PMID:9536098 PMID:10528257 PMID:17576681 PMID:25741868 PMID:25808372 PMID:26657514 PMID:28492532 PMID:32369273 More...
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MT-CYB
mitochondrially encoded cytochrome b
ISO
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 20
ClinVar
NCBI chr MT:15,342...16,481
Ensembl chr MT:15,342...16,481
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SNX14
sorting nexin 14
ISO
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 20 | ClinVar Annotator: match by term: SNX14-related condition
OMIM ClinVar
PMID:24501761 PMID:25439728 PMID:25741868 PMID:25848753 PMID:27913285 PMID:28492532 PMID:34691693 More...
NCBI chr 1:54,460,645...54,547,204
Ensembl chr 1:54,460,640...54,547,216
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SCYL1
SCY1 like pseudokinase 1
ISO
ClinVar Annotator: match by term: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | ClinVar Annotator: match by term: CALFAN syndrome | ClinVar Annotator: match by term: SCYL1-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:29419818 PMID:32146038 PMID:32860008
NCBI chr 2:6,720,047...6,733,477
Ensembl chr 2:6,716,115...6,733,438
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VWA3B
von Willebrand factor A domain containing 3B
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 22
OMIM ClinVar
PMID:25741868 PMID:26157035
NCBI chr 3:55,949,534...56,173,597
Ensembl chr 3:55,950,591...56,171,718
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TDP2
tyrosyl-DNA phosphodiesterase 2
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 23
OMIM ClinVar
PMID:24658003 PMID:25741868 PMID:30109272
NCBI chr 7:19,489,381...19,502,437
Ensembl chr 7:19,489,384...19,502,520
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UBA5
ubiquitin like modifier activating enzyme 5
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 24
OMIM ClinVar
PMID:24033266 PMID:25741868 PMID:26872069 PMID:27545674 PMID:27545681 PMID:27926783 PMID:28492532 PMID:28965491 PMID:29286531 PMID:33811063 More...
NCBI chr13:73,831,485...73,859,781
Ensembl chr13:73,822,920...73,868,423
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ATG5
autophagy related 5
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 25
OMIM ClinVar
PMID:15981765 PMID:26812546
NCBI chr 1:72,343,950...72,520,402
Ensembl chr 1:72,270,799...72,520,396
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XRCC1
X-ray repair cross complementing 1
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 26
OMIM ClinVar
PMID:16875718 PMID:19362955 PMID:20530282 PMID:21057378 PMID:22026922 PMID:22188361 PMID:22761669 PMID:22992668 PMID:24224851 PMID:24446315 PMID:25025378 PMID:25232828 PMID:25741868 PMID:27248474 PMID:27636246 PMID:28002403 PMID:28422153 PMID:28743242 PMID:29662106 More...
NCBI chr 6:50,403,691...50,425,730
Ensembl chr 6:50,403,689...50,425,729
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GDAP2
ganglioside induced differentiation associated protein 2
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 27
OMIM ClinVar
PMID:25741868 PMID:30084953
NCBI chr 4:102,878,743...102,954,581
Ensembl chr 4:102,878,719...102,943,549
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THG1L
tRNA-histidine guanylyltransferase 1 like
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 28
OMIM ClinVar
PMID:1168944 PMID:25741868 PMID:27307223 PMID:28097321
NCBI chr16:65,602,637...65,610,619
Ensembl chr16:65,602,641...65,610,592
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VPS41
VPS41 subunit of HOPS complex
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 29
OMIM ClinVar
PMID:25741868 PMID:32808683 PMID:33764426 PMID:33851776
NCBI chr18:55,293,655...55,466,628
Ensembl chr18:55,301,624...55,466,628
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PITRM1
pitrilysin metallopeptidase 1
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 30
OMIM ClinVar
PMID:26697887 PMID:28492532 PMID:29383861 PMID:29764912
NCBI chr10:66,996,919...67,021,692
Ensembl chr10:66,996,954...67,047,235
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ATG7
autophagy related 7
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 31
OMIM ClinVar
PMID:25741868 PMID:34161705 PMID:35405176
NCBI chr13:67,301,756...67,699,141
Ensembl chr13:67,417,938...67,707,654
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PRDX3
peroxiredoxin 3
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 32
OMIM ClinVar
PMID:25741868 PMID:33889951 PMID:35766882 PMID:35792670
NCBI chr14:129,079,050...129,090,790
Ensembl chr14:129,079,051...129,090,830
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VPS13D
vacuolar protein sorting 13 homolog D
ISO
ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | ClinVar Annotator: match by term: VPS13D-related condition
OMIM ClinVar
PMID:9536098 PMID:11960835 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29518281 PMID:29604224 PMID:31680123 PMID:34906502 More...
NCBI chr 6:72,256,865...72,514,256
Ensembl chr 6:72,256,828...72,510,058
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TPP1
tripeptidyl peptidase 1
ISO
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 7 | ClinVar Annotator: match by term: TPP1-related condition
OMIM ClinVar
PMID:9295267 PMID:9536098 PMID:9788728 PMID:10330339 PMID:10862088 PMID:11017954 PMID:11071145 PMID:11339651 PMID:12376936 PMID:12414822 PMID:12488460 PMID:12796825 PMID:12950156 PMID:15317752 PMID:15520412 PMID:16199547 PMID:16782851 PMID:16814585 PMID:17576681 PMID:17679671 PMID:17959406 PMID:18283468 PMID:18473686 PMID:18684116 PMID:19201763 PMID:19793312 PMID:20301601 PMID:20340139 PMID:21990111 PMID:22245569 PMID:22612257 PMID:22752289 PMID:23266810 PMID:23418007 PMID:23539563 PMID:25356970 PMID:25525159 PMID:25741868 PMID:26026925 PMID:26075876 PMID:26224725 PMID:26467025 PMID:26795593 PMID:27407112 PMID:27553520 PMID:28335910 PMID:28464005 PMID:28492532 PMID:29631617 PMID:29687370 PMID:30771299 PMID:31122803 PMID:31283065 PMID:31489614 PMID:32329550 PMID:32412666 PMID:32855042 PMID:34126256 More...
NCBI chr 9:3,135,580...3,143,408
Ensembl chr 9:3,135,642...3,143,404
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ESR1
estrogen receptor 1
ISO
ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8
ClinVar
PMID:25741868 PMID:26467025 PMID:27782104 PMID:28492532
NCBI chr 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363
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FBXO5
F-box protein 5
ISO
ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type
ClinVar
PMID:28492532
NCBI chr 1:13,466,961...13,478,496
Ensembl chr 1:13,467,501...13,505,928
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MTRF1L
mitochondrial translation release factor 1 like
ISO
ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type
ClinVar
PMID:28492532
NCBI chr 1:13,443,602...13,458,291
Ensembl chr 1:13,446,492...13,458,287
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MYCT1
MYC target 1
ISO
ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type
ClinVar
PMID:28492532
NCBI chr 1:13,651,397...13,667,210
Ensembl chr 1:13,651,399...13,667,284
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RGS17
regulator of G protein signaling 17
ISO
ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type
ClinVar
PMID:28492532
NCBI chr 1:13,340,253...13,442,058
Ensembl chr 1:13,340,355...13,442,039
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SYNE1
spectrin repeat containing nuclear envelope protein 1
ISO
ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type | ClinVar Annotator: match by term: SYNE1-Related Autosomal Recessive Cerebellar Ataxia | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8
OMIM ClinVar
PMID:3169216 PMID:9536098 PMID:16199547 PMID:17159980 PMID:17503513 PMID:17576681 PMID:17761684 PMID:18414213 PMID:19542096 PMID:19944109 PMID:21496632 PMID:21572417 PMID:21701589 PMID:22162184 PMID:22287014 PMID:23325900 PMID:23352163 PMID:23959263 PMID:24033266 PMID:24123366 PMID:24123876 PMID:24319099 PMID:24366360 PMID:24388756 PMID:24838835 PMID:24892279 PMID:25091525 PMID:25133958 PMID:25214167 PMID:25326637 PMID:25401298 PMID:25640679 PMID:25741868 PMID:25741916 PMID:25843669 PMID:25976027 PMID:26302956 PMID:26350515 PMID:26467025 PMID:26539891 PMID:26770814 PMID:26870756 PMID:27060904 PMID:27066551 PMID:27086870 PMID:27178001 PMID:27197992 PMID:27305979 PMID:27378695 PMID:27671794 PMID:27782104 PMID:28017257 PMID:28074886 PMID:28178086 PMID:28324520 PMID:28492532 PMID:28687974 PMID:28750076 PMID:28798025 PMID:29077258 PMID:29389947 PMID:29482223 PMID:29625556 PMID:29892087 PMID:29915382 PMID:29961767 PMID:30029642 PMID:30119932 PMID:30275942 PMID:30487145 PMID:30564623 PMID:30573412 PMID:30610203 PMID:30619065 PMID:30993396 PMID:31103315 PMID:31127727 PMID:31230720 PMID:31692161 PMID:32038460 PMID:32348865 PMID:32488064 PMID:32816195 PMID:32870032 PMID:32889669 PMID:32934002 PMID:33397523 PMID:33651373 PMID:34275688 PMID:34368859 PMID:34602496 PMID:35190550 PMID:35304488 More...
NCBI chr 1:13,715,644...14,201,711
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VIP
vasoactive intestinal peptide
ISO
ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type
ClinVar
PMID:28492532
NCBI chr 1:13,611,786...13,620,250
Ensembl chr 1:13,611,311...13,620,269
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MCOLN1
mucolipin TRP cation channel 1
ISO
ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 2:71,602,888...71,613,331
Ensembl chr 2:71,602,770...71,613,312
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PNPLA6
patatin like phospholipase domain containing 6
ISO
ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome | ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism
OMIM ClinVar
PMID:3963113 PMID:8053762 PMID:9321767 PMID:18313024 PMID:20603202 PMID:23733235 PMID:24355708 PMID:25033069 PMID:25267340 PMID:25299038 PMID:25359264 PMID:25480986 PMID:25574898 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29248984 PMID:30555943 PMID:31135245 PMID:31780887 PMID:32623594 PMID:33141049 PMID:34234304 PMID:34445196 PMID:35069422 PMID:35872528 More...
NCBI chr 2:71,577,165...71,602,756
Ensembl chr 2:71,577,168...71,602,777
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PURA
purine rich element binding protein A
ISO
ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism
ClinVar
PMID:25741868
NCBI chr 2:141,877,775...141,899,259
Ensembl chr 2:141,884,155...141,886,330
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GDF3
growth differentiation factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22613031
NCBI chr 5:62,835,926...62,841,827
Ensembl chr 5:62,835,880...62,841,884
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MYH7
myosin heavy chain 7
ISO
ClinVar Annotator: match by term: Bent Spine Syndrome
ClinVar
PMID:12707239 PMID:23861362 PMID:24033266 PMID:24793961 PMID:25467552 PMID:25741868 PMID:25961035 PMID:26627873 PMID:26969127 PMID:27247418 PMID:27532257 PMID:28492532 PMID:29300372 PMID:30297972 PMID:31918855 PMID:32894683 PMID:33673806 PMID:34542152 More...
NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225
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POLG
DNA polymerase gamma, catalytic subunit
ISO
ClinVar Annotator: match by term: Bent Spine Syndrome
ClinVar
PMID:16621917 PMID:17452231 PMID:18546365 PMID:19189930 PMID:19578034 PMID:19752458 PMID:19815814 PMID:20227526 PMID:20301791 PMID:20803511 PMID:21856450 PMID:21880868 PMID:22647225 PMID:22727047 PMID:23808377 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27271921 PMID:28130605 PMID:28492532 More...
NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844
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RRM2B
ribonucleotide reductase regulatory TP53 inducible subunit M2B
ISO
ClinVar Annotator: match by term: Bent Spine Syndrome
ClinVar
PMID:17486094 PMID:21378381 PMID:24741716 PMID:25741868 PMID:28492532 PMID:31521625 More...
NCBI chr 4:34,823,869...34,859,777
Ensembl chr 4:34,823,758...34,859,778
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ATP1A3
ATPase Na+/K+ transporting subunit alpha 3
ISO
ClinVar Annotator: match by term: CAPOS syndrome | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS | ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
OMIM ClinVar
PMID:8733056 PMID:15260953 PMID:18414213 PMID:18675996 PMID:19652145 PMID:20301294 PMID:20576601 PMID:21911500 PMID:22842232 PMID:22850527 PMID:22924536 PMID:23409136 PMID:23483595 PMID:24100174 PMID:24431296 PMID:24468074 PMID:24523486 PMID:24631656 PMID:24793181 PMID:24842602 PMID:24996492 PMID:25056583 PMID:25326637 PMID:25447930 PMID:25523819 PMID:25681536 PMID:25741868 PMID:25895915 PMID:25944380 PMID:25996915 PMID:26400718 PMID:26410222 PMID:26417536 PMID:26453127 PMID:26467025 PMID:26633545 PMID:26993267 PMID:27268479 PMID:27634470 PMID:27726050 PMID:28293679 PMID:28441826 PMID:28492532 PMID:28500446 PMID:28637637 PMID:28647130 PMID:28708303 PMID:28849312 PMID:28901192 PMID:29066118 PMID:29305691 PMID:29397530 PMID:30071271 PMID:30577886 PMID:30657467 PMID:31361359 PMID:31737037 PMID:32581362 PMID:34008892 PMID:34342181 PMID:34459253 PMID:35047275 PMID:36192182 More...
NCBI chr 6:49,905,851...49,927,437
Ensembl chr 6:49,905,847...49,927,633
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ATCAY
ATCAY kinesin light chain interacting caytaxin
ISO
ClinVar Annotator: match by term: Cayman type cerebellar ataxia
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:29449188
NCBI chr 2:74,800,048...74,838,923
Ensembl chr 2:74,800,048...74,838,671
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AHNAK2
AHNAK nucleoprotein 2
ISO
ClinVar Annotator: match by term: Dysmetria
ClinVar
G
ATCAY
ATCAY kinesin light chain interacting caytaxin
susceptibility
ISO
RGD
PMID:14556008
RGD:1599348
NCBI chr 2:74,800,048...74,838,923
Ensembl chr 2:74,800,048...74,838,671
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ATG4D
autophagy related 4D cysteine peptidase
ISO
Neurodegenerative vacuolar storage disease
OMIA
PMID:25875846 PMID:28583040 PMID:33016245 PMID:37341581
NCBI chr 2:69,320,313...69,328,522
Ensembl chr 2:69,320,331...69,328,519
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ATM
ATM serine/threonine kinase
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:9887333 PMID:12810666 PMID:23807571 PMID:25614872 PMID:25741868 PMID:28488180 PMID:28492532 PMID:29909963 PMID:31050087 More...
NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,552
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ATP1B2
ATPase Na+/K+ transporting subunit beta 2
ISO
Ataxia, cerebellar, ATP1B2-related
OMIA
PMID:28620085 PMID:37341581
NCBI chr12:52,925,697...52,932,638
Ensembl chr12:52,925,693...52,932,635
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C9H11orf65
chromosome 9 C11orf65 homolog
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:9887333 PMID:23807571 PMID:25614872 PMID:25741868 PMID:28492532 PMID:29909963 More...
NCBI chr 9:36,768,819...36,855,318
Ensembl chr 9:36,776,897...36,849,710
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CACNA1A
calcium voltage-gated channel subunit alpha1 A
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:10371528 PMID:15173248 PMID:19486177 PMID:25735478 PMID:25741868 PMID:26467025 PMID:27066515 PMID:27250579 PMID:27400454 PMID:28252636 PMID:28492532 PMID:31440721 PMID:31719132 PMID:35401678 More...
NCBI chr 2:65,491,784...65,871,068
Ensembl chr 2:65,514,509...65,871,182
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CACNA1G
calcium voltage-gated channel subunit alpha1 G
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:25741868
NCBI chr12:26,838,633...26,912,344
Ensembl chr12:26,844,079...26,912,110
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CAPRIN1
cell cycle associated protein 1
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:25741868 PMID:36136249
NCBI chr 2:26,830,987...26,875,425
Ensembl chr 2:26,830,267...26,875,357
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CEP104
centrosomal protein 104
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:32581362
NCBI chr 6:65,274,092...65,310,735
Ensembl chr 6:65,274,488...65,310,669
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CIZ1
CDKN1A interacting zinc finger protein 1
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:25741868 PMID:28492532 PMID:28554332 PMID:34386584
NCBI chr 1:268,618,972...268,642,064
Ensembl chr 1:268,617,087...268,641,893
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CLCN2
chloride voltage-gated channel 2
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:25741868
NCBI chr13:122,234,731...122,249,889
Ensembl chr13:122,234,736...122,249,867
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COQ8A
coenzyme Q8A
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:25558065
NCBI chr10:14,597,237...14,643,394
Ensembl chr10:14,596,599...14,643,772
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CSMD1
CUB and Sushi multiple domains 1
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:25741868 PMID:28492532 PMID:35351988
NCBI chr15:34,361,722...36,243,762
Ensembl chr15:34,363,758...35,023,152
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DARS2
aspartyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Dysmetria
ClinVar
PMID:16199547 PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 PMID:23652419 PMID:24005482 PMID:24407472 PMID:24566671 PMID:25525159 PMID:25741868 PMID:28492532 PMID:31589614 PMID:33977142 PMID:34426522 PMID:35379322 More...
NCBI chr 9:116,109,970...116,140,635
Ensembl chr 9:116,109,986...116,140,627
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DNM1
dynamin 1
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:25741868 PMID:28492532 PMID:28554332 PMID:34386584
NCBI chr 1:268,653,045...268,702,233
Ensembl chr 1:268,653,070...268,702,222
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DNMT1
DNA methyltransferase 1
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:25741868
NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,566...69,029,844
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DYNC1H1
dynein cytoplasmic 1 heavy chain 1
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:25741868
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ESR1
estrogen receptor 1
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
NCBI chr 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363
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GJB1
gap junction protein beta 1
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:9361298 PMID:9818870 PMID:11438991 PMID:11571214 PMID:15468313 PMID:18717720 PMID:20193560 PMID:23384994 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28768847 More...
NCBI chr X:57,241,990...57,249,496
Ensembl chr X:57,242,045...57,249,885
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GRM1
glutamate metabotropic receptor 1
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:36675067
NCBI chr 1:19,183,221...19,572,853
Ensembl chr 1:19,183,218...19,572,853
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HARS1
histidyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:25741868 PMID:28492532 PMID:32333447
NCBI chr 2:142,387,563...142,401,232
Ensembl chr 2:142,385,872...142,401,208
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ITPR1
inositol 1,4,5-trisphosphate receptor type 1
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
NCBI chr13:61,068,131...61,398,918
Ensembl chr13:61,068,126...61,398,912
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KCNA6
potassium voltage-gated channel subfamily A member 6
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:25741868
NCBI chr 5:65,625,581...65,659,557
Ensembl chr 5:65,657,225...65,658,835
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KCNJ10
potassium inwardly rectifying channel subfamily J member 10
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:19289823 PMID:19420365 PMID:20651251 PMID:20807765 PMID:32581362
NCBI chr 4:90,421,956...90,457,406
Ensembl chr 4:90,422,025...90,457,406
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KCNN2
potassium calcium-activated channel subfamily N member 2
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:25741868 PMID:33242881 PMID:36746441
NCBI chr 2:118,439,328...118,882,299
Ensembl chr 2:118,439,403...118,882,295
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KIF1C
kinesin family member 1C
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:25741868 PMID:32581362
NCBI chr12:51,899,762...51,924,465
Ensembl chr12:51,897,494...51,924,432
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KIF7
kinesin family member 7
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:25741868 PMID:28492532 PMID:29286531
NCBI chr 7:55,200,591...55,220,237
Ensembl chr 7:55,200,594...55,220,240
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L1CAM
L1 cell adhesion molecule
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:25741868
NCBI chr X:124,595,649...124,618,292
Ensembl chr X:124,595,651...124,618,307
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L2HGDH
L-2-hydroxyglutarate dehydrogenase
ISO
DNA:mutation:cds:c.241A4G(p.K81E)(human)
RGD
PMID:24573090
RGD:13506824
NCBI chr 1:180,020,862...180,069,168
Ensembl chr 1:180,020,863...180,069,146
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LRCH2
leucine rich repeats and calponin homology domain containing 2
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:35351988
NCBI chr X:94,486,560...94,589,930
Ensembl chr X:94,486,564...94,589,899
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MFN2
mitofusin 2
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:15064763 PMID:16043786 PMID:16835246 PMID:17296794 PMID:17959936 PMID:18316077 PMID:19812251 PMID:20008656 PMID:21508331 PMID:22492563 PMID:24126688 PMID:24957169 PMID:25741868 PMID:26467025 PMID:26801520 PMID:27100445 PMID:28492532 PMID:28660751 PMID:29898954 More...
NCBI chr 6:72,026,512...72,056,439
Ensembl chr 6:72,028,499...72,056,438
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MLC1
modulator of VRAC current 1
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:16652334 PMID:21160490 PMID:23079554 PMID:23851226 PMID:25741868 PMID:27322623 PMID:28492532 PMID:33084218 More...
NCBI chr 5:571,921...593,531
Ensembl chr 5:571,963...591,822
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MT-ATP6
mitochondrially encoded ATP synthase membrane subunit 6
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:24986921 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32581362 PMID:32906214 More...
NCBI chr MT:9,120...9,800
Ensembl chr MT:9,120...9,800
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MT-ATP8
mitochondrially encoded ATP synthase membrane subunit 8
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
NCBI chr MT:8,959...9,162
Ensembl chr MT:8,959...9,162
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MT-CO1
mitochondrially encoded cytochrome c oxidase I
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
NCBI chr MT:6,511...8,055
Ensembl chr MT:6,511...8,055
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MT-CO2
mitochondrially encoded cytochrome c oxidase II
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
NCBI chr MT:8,203...8,890
Ensembl chr MT:8,203...8,890
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MT-CO3
mitochondrially encoded cytochrome c oxidase III
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
NCBI chr MT:9,800...10,583
Ensembl chr MT:9,800...10,583
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MT-ND1
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
NCBI chr MT:3,922...4,876
Ensembl chr MT:3,922...4,876
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MT-ND3
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
NCBI chr MT:10,653...10,998
Ensembl chr MT:10,653...10,998
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MT-ND4
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
NCBI chr MT:11,359...12,736
Ensembl chr MT:11,359...12,736
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MT-ND5
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
NCBI chr MT:12,935...14,755
Ensembl chr MT:12,935...14,755
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MTCL1
microtubule crosslinking factor 1
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:30548255
NCBI chr 6:99,062,347...99,178,570
Ensembl chr 6:99,062,354...99,178,468
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NCDN
neurochondrin
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:25741868 PMID:33711248
NCBI chr 6:91,747,550...91,756,812
Ensembl chr 6:91,747,892...91,756,808
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ND2
NADH dehydrogenase subunit 2
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
NCBI chr MT:5,087...6,128
Ensembl chr MT:5,087...6,128
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ND4L
NADH dehydrogenase subunit 4L
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 PMID:8095070 PMID:8250532 PMID:8395787 PMID:9199572 PMID:9221962 PMID:9329425 PMID:9556461 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11925565 PMID:14998933 PMID:17452590 PMID:19667215 PMID:19875463 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27450679 PMID:29602698 PMID:32313153 PMID:32906214 More...
NCBI chr MT:11,069...11,365
Ensembl chr MT:11,069...11,365
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NOP56
NOP56 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:25741868
NCBI chr17:32,960,099...32,965,396
Ensembl chr17:32,960,102...32,965,370
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PDE1B
phosphodiesterase 1B
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:25741868
NCBI chr 5:19,725,346...19,752,892
Ensembl chr 5:19,725,415...19,752,888
G
PEX6
peroxisomal biogenesis factor 6
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:19877282 PMID:25079577 PMID:25741868 PMID:28492532 PMID:32399598
NCBI chr 7:38,039,852...38,052,384
Ensembl chr 7:38,039,862...38,052,369
G
PMM2
phosphomannomutase 2
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:9140401 PMID:9497260 PMID:9781039 PMID:10386614 PMID:10527672 PMID:10602363 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:15844218 PMID:16540464 PMID:17166182 PMID:17451957 PMID:18948042 PMID:19357119 PMID:20301289 PMID:21228398 PMID:21541725 PMID:22975760 PMID:24033266 PMID:25333069 PMID:25355454 PMID:25741868 PMID:26014514 PMID:26488408 PMID:28373276 PMID:28492532 PMID:28940310 PMID:30740725 PMID:31474318 PMID:32581362 PMID:32860008 More...
NCBI chr 3:33,857,059...33,892,472
Ensembl chr 3:33,857,068...33,892,701
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PMPCA
peptidase, mitochondrial processing subunit alpha
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
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PNPLA6
patatin like phospholipase domain containing 6
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:25033069 PMID:25359264 PMID:25741868 PMID:28492532 PMID:34234304 PMID:34445196 PMID:35069422 PMID:35872528 More...
NCBI chr 2:71,577,165...71,602,756
Ensembl chr 2:71,577,168...71,602,777
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POLG
DNA polymerase gamma, catalytic subunit
ISO
associated with Ophthalmoplegia, Chronic Progressive External;DNA:mutations:cds:
RGD
PMID:20803511
RGD:8694192
NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844
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POMT1
protein O-mannosyltransferase 1
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:25741868 PMID:26467025 PMID:28182637 PMID:28492532
NCBI chr 1:271,432,196...271,448,584
Ensembl chr 1:271,432,210...271,452,461
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PRKCG
protein kinase C gamma
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
NCBI chr 6:56,213,479...56,235,683
Ensembl chr 6:56,213,480...56,234,210
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PTRH2
peptidyl-tRNA hydrolase 2
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:25558065 PMID:25741868 PMID:25741914 PMID:27129381 PMID:28328138
NCBI chr12:35,924,030...35,933,229
Ensembl chr12:35,924,039...35,933,226
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RAB24
RAB24, member RAS oncogene family
ISO
Ataxia, cerebellar, juvenile to adolescent, RAB24-related
OMIA
PMID:3973637 PMID:6502189 PMID:7341602 PMID:7440348 PMID:11043686 PMID:24516392 PMID:37341581 More...
NCBI chr 2:80,646,426...80,651,498
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RFC1
replication factor C subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30926972
NCBI chr 8:30,552,369...30,635,932
Ensembl chr 8:30,552,400...30,635,867
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RPGRIP1L
RPGRIP1 like
ISO
associated with Joubert Syndrome 7;DNA:mutations:exons:
RGD
PMID:17558409
RGD:11073359
NCBI chr 6:31,564,937...31,660,540
Ensembl chr 6:31,564,986...31,661,190
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RPL27A
ribosomal protein L27a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21674502
NCBI chr 9:708,531...712,410
Ensembl chr 9:707,693...711,219
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SATB2
SATB homeobox 2
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:25741868
NCBI chr15:102,962,635...103,172,224
Ensembl chr15:102,964,417...103,158,232
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SCN8A
sodium voltage-gated channel alpha subunit 8
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:25741868
NCBI chr 5:16,977,468...17,173,831
Ensembl chr 5:16,977,700...17,169,543
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SEL1L
SEL1L adaptor subunit of ERAD E3 ubiquitin ligase
ISO
Ataxia, cerebellar, progressive early-onset, SEL1L-related
OMIA
PMID:22719266 PMID:37341581
NCBI chr 7:104,219,628...104,283,250
Ensembl chr 7:104,219,411...104,283,195
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SEPSECS
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:25558065
NCBI chr 8:19,097,788...19,162,246
Ensembl chr 8:19,097,456...19,136,222
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SETX
senataxin
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:25558065 PMID:26467025
NCBI chr 1:272,093,449...272,170,857
Ensembl chr 1:272,095,358...272,170,747
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SLC2A1
solute carrier family 2 member 1
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
NCBI chr 6:168,535,398...168,561,170
Ensembl chr 6:168,535,440...168,560,867
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SNX14
sorting nexin 14
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
NCBI chr 1:54,460,645...54,547,204
Ensembl chr 1:54,460,640...54,547,216
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SPART
spartin
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:25558065 PMID:25741868
NCBI chr11:12,313,211...12,346,226
Ensembl chr11:12,313,210...12,374,645
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SPTBN2
spectrin beta, non-erythrocytic 2
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:25741868
NCBI chr 2:5,683,414...5,739,418
Ensembl chr 2:5,695,836...5,739,415
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STXBP1
syntaxin binding protein 1
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:20887364 PMID:24033266 PMID:25533962 PMID:25741868 PMID:26384463 PMID:26865513 PMID:26918652 PMID:27159321 PMID:28135719 PMID:28492532 More...
NCBI chr 1:268,116,124...268,205,805
Ensembl chr 1:268,116,120...268,205,778
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SURF1
SURF1 cytochrome c oxidase assembly factor
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:9536098 PMID:17576681 PMID:22488715 PMID:23829769 PMID:25741868 PMID:28492532 PMID:32445240 More...
NCBI chr 1:272,965,637...272,970,516
Ensembl chr 1:272,965,643...272,970,483
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SYNE1
spectrin repeat containing nuclear envelope protein 1
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 1:13,715,644...14,201,711
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SYNGAP1
synaptic Ras GTPase activating protein 1
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:25741868
NCBI chr 7:29,723,745...29,752,351
Ensembl chr 7:29,723,588...29,753,933
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TDP2
tyrosyl-DNA phosphodiesterase 2
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
NCBI chr 7:19,489,381...19,502,437
Ensembl chr 7:19,489,384...19,502,520
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TLN1
talin 1
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:25741868
NCBI chr 1:236,416,041...236,450,978
Ensembl chr 1:236,416,044...236,450,922
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UNC13A
unc-13 homolog A
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:25741868 PMID:28192369
NCBI chr 2:60,057,926...60,130,015
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VPS39
VPS39 subunit of HOPS complex
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:25741868
NCBI chr 1:129,144,338...129,198,760
Ensembl chr 1:129,144,344...129,198,761
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ZNF236
zinc finger protein 236
ISO
ClinVar Annotator: match by term: Cerebellar ataxia
ClinVar
PMID:25741868
NCBI chr 1:147,690,545...147,782,162
Ensembl chr 1:147,690,556...147,782,129
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FANCI
FA complementation group I
ISO
ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia
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:23524600 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:27987238 PMID:28492532 More...
NCBI chr 7:54,811,024...54,889,992
Ensembl chr 7:54,811,027...54,889,998
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MSH6
mutS homolog 6
ISO
ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia
ClinVar
PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 PMID:25980754 PMID:26689913 PMID:28492532 PMID:29684080 PMID:29945567 PMID:30267214 PMID:31159747 PMID:31332305 PMID:31391288 PMID:31422574 PMID:31921681 PMID:33471991 PMID:34445333 PMID:35980532 More...
NCBI chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,238
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POLG
DNA polymerase gamma, catalytic subunit
ISO
ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia
ClinVar
PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 PMID:11555352 PMID:11571332 PMID:12210792 PMID:12297582 PMID:12565911 PMID:12707443 PMID:12825077 PMID:12872260 PMID:12975295 PMID:14557557 PMID:14635118 PMID:14694057 PMID:14745080 PMID:15122711 PMID:15181170 PMID:15349879 PMID:15351195 PMID:15477547 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16130100 PMID:16177225 PMID:16199547 PMID:16368709 PMID:16401742 PMID:16545482 PMID:16621917 PMID:16634032 PMID:16638794 PMID:16639411 PMID:16896309 PMID:16940310 PMID:17088268 PMID:17418573 PMID:17426723 PMID:17438011 PMID:17452231 PMID:17846414 PMID:17950645 PMID:17980715 PMID:18195149 PMID:18195151 PMID:18414213 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18585914 PMID:18716558 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19189930 PMID:19251978 PMID:19307547 PMID:19478085 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19629138 PMID:19752458 PMID:19766516 PMID:19813183 PMID:19815814 PMID:19862739 PMID:20138553 PMID:20142534 PMID:20185557 PMID:20227526 PMID:20301791 PMID:20385918 PMID:20434700 PMID:20513108 PMID:20513922 PMID:20576279 PMID:20601675 PMID:20691285 PMID:20701905 PMID:20803511 PMID:20818383 PMID:20837861 PMID:20843780 PMID:21038416 PMID:21138766 PMID:21228000 PMID:21228398 PMID:21235791 PMID:21259344 PMID:21276947 PMID:21282586 PMID:21305355 PMID:21357833 PMID:21484424 PMID:21515089 PMID:21647632 PMID:21654874 PMID:21670405 PMID:21686371 PMID:21824913 PMID:21856450 PMID:21880868 PMID:21956653 PMID:21993618 PMID:22006280 PMID:22189570 PMID:22334187 PMID:22342071 PMID:22494076 PMID:22616202 PMID:22647225 PMID:22711370 PMID:22727047 PMID:22863191 PMID:22931735 PMID:22987704 PMID:22995991 PMID:23084792 PMID:23208208 PMID:23212759 PMID:23250882 PMID:23251356 PMID:23299917 PMID:23324391 PMID:23426270 PMID:23430834 PMID:23446635 PMID:23446645 PMID:23448099 PMID:23524600 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23808377 PMID:23811324 PMID:23921535 PMID:24033266 PMID:24122062 PMID:24259288 PMID:24265579 PMID:24272679 PMID:24288107 PMID:24331360 PMID:24508722 PMID:24642831 PMID:24725338 PMID:25118206 PMID:25193669 PMID:25286830 PMID:25356970 PMID:25462018 PMID:25585994 PMID:25660390 PMID:25741868 PMID:25741916 PMID:25742477 PMID:25850945 PMID:25940035 PMID:26095671 PMID:26104464 PMID:26224072 PMID:26337858 PMID:26357557 PMID:26467025 PMID:26468652 PMID:26557169 PMID:26735972 PMID:26742794 PMID:26942291 PMID:26942292 PMID:27016405 PMID:27111573 PMID:27119776 PMID:27185166 PMID:27271921 PMID:27381400 PMID:27422324 PMID:27450679 PMID:27538604 PMID:27987238 PMID:28128857 PMID:28130605 PMID:28154168 PMID:28337550 PMID:28444220 PMID:28471437 PMID:28492532 PMID:28771251 PMID:28776642 PMID:28812649 PMID:29029963 PMID:29341116 PMID:29358615 PMID:29431110 PMID:29474836 PMID:29482223 PMID:29588995 PMID:29655203 PMID:29997391 PMID:30021052 PMID:30167885 PMID:30255931 PMID:30290626 PMID:30369941 PMID:30373890 PMID:30404819 PMID:30423451 PMID:30487145 PMID:30637288 PMID:30818899 PMID:30843307 PMID:30936349 PMID:30941926 PMID:31085725 PMID:31589614 PMID:31645654 PMID:31658717 PMID:31665838 PMID:31669236 PMID:31762033 PMID:31980526 PMID:32019516 PMID:32042919 PMID:32234506 PMID:32305867 PMID:32391929 PMID:32445240 PMID:32567010 PMID:32613234 PMID:33046616 PMID:33233646 PMID:33396418 PMID:33473333 PMID:33486010 PMID:33513296 PMID:33579567 PMID:33683010 PMID:33726816 PMID:33956154 PMID:34008892 PMID:34052969 PMID:34062649 PMID:34194468 PMID:34426522 PMID:34670123 PMID:34782754 PMID:34927673 PMID:35114397 PMID:35307828 PMID:35350396 PMID:35699875 PMID:35799515 PMID:35861376 PMID:36325100 PMID:36332611 PMID:36703223 PMID:36987741 PMID:37184518 PMID:37189790 More...
NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844
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TRPC3
transient receptor potential cation channel subfamily C member 3
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia type 41
OMIM ClinVar
PMID:25477146 PMID:25741868 PMID:28492532
NCBI chr 8:102,129,539...102,206,512
Ensembl chr 8:102,129,611...102,206,946
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CACNA1G
calcium voltage-gated channel subunit alpha1 G
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia type 42
OMIM ClinVar
PMID:25741868 PMID:26456284 PMID:26715324 PMID:28490766 PMID:28492532 PMID:29629410 PMID:29878067 PMID:32736238 PMID:32860008 PMID:32878331 More...
NCBI chr12:26,838,633...26,912,344
Ensembl chr12:26,844,079...26,912,110
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MME
membrane metalloendopeptidase
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia 43
OMIM ClinVar
PMID:15464186 PMID:24033266 PMID:25565308 PMID:25741868 PMID:26991897 PMID:27583304 PMID:27588448 PMID:28492532 PMID:30415211 PMID:33144514 PMID:35318247 PMID:36517691 More...
NCBI chr13:95,018,395...95,122,977
Ensembl chr13:95,019,081...95,126,045
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PUM1
pumilio RNA binding family member 1
ISO
ClinVar Annotator: match by term: PUM1-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 47
OMIM ClinVar
PMID:25741868 PMID:29474920 PMID:30903679 PMID:31859446 PMID:35386260
NCBI chr 6:87,546,388...87,687,483
Ensembl chr 6:87,547,320...87,687,442
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JMJD8
jumonji domain containing 8
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia 48
ClinVar
PMID:24719489 PMID:25741868 PMID:28492532 PMID:30381368 PMID:31126790 PMID:31571321 PMID:32488064 PMID:34070858 More...
NCBI chr 3:41,090,787...41,093,620
Ensembl chr 3:41,090,788...41,093,614
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RHBDL1
rhomboid like 1
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia 48
ClinVar
PMID:25741868
NCBI chr 3:41,096,881...41,099,582
Ensembl chr 3:41,096,884...41,099,587
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STUB1
STIP1 homology and U-box containing protein 1
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia 48
OMIM ClinVar
PMID:24719489 PMID:25258038 PMID:25741868 PMID:28492532 PMID:30381368 PMID:31126790 PMID:31571321 PMID:32488064 PMID:34070858 More...
NCBI chr 3:41,092,514...41,095,181
Ensembl chr 3:41,092,449...41,095,136
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WDR24
WD repeat domain 24
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia 48
ClinVar
PMID:25741868
NCBI chr 3:41,085,415...41,090,628
Ensembl chr 3:41,085,463...41,090,610
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EXOSC5
exosome component 5
ISO
ClinVar Annotator: match by term: Cerebellar ataxia, brain abnormalities, and cardiac conduction defects
OMIM ClinVar
PMID:25741868 PMID:29302074 PMID:30950035 PMID:32504085 PMID:34089229
NCBI chr 6:49,373,378...49,381,875
Ensembl chr 6:49,373,379...49,382,034
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CA8
carbonic anhydrase 8
ISO
OMIM:224050 | OMIM:610185 | OMIM:613227 | OMIM:615268
MouseDO
NCBI chr 4:73,047,867...73,172,215
Ensembl chr 4:73,047,847...73,141,989
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LOC100523747
phospholipid-transporting ATPase IB
ISO
ClinVar Annotator: match by term: Dysequilibrium syndrome
ClinVar
PMID:25741868
NCBI chr11:3,277,395...3,793,881
Ensembl chr11:3,277,951...3,793,881
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VLDLR
very low density lipoprotein receptor
ISO
ClinVar Annotator: match by term: CEREBELLAR ATAXIA, CONGENITAL, AND MENTAL RETARDATION, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cerebellar disorder, nonprogressive, with mental retardation | ClinVar Annotator: match by term: Cerebellar hypoplasia, VLDLR associated | ClinVar Annotator: match by term: Dysequilibrium syndrome
ClinVar
PMID:11913577 PMID:16080122 PMID:16199547 PMID:18043714 PMID:18326629 PMID:18364738 PMID:18414213 PMID:20301729 PMID:22532556 PMID:22700954 PMID:22973972 PMID:25741868 PMID:27000652 PMID:28492532 More...
NCBI chr 1:219,178,501...219,210,332
Ensembl chr 1:219,173,507...219,210,343
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VLDLR
very low density lipoprotein receptor
ISO
ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1 | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 1 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 | ClinVar Annotator: match by term: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1
OMIM ClinVar
PMID:11913577 PMID:16080122 PMID:16199547 PMID:18043714 PMID:18326629 PMID:18364738 PMID:18414213 PMID:20301729 PMID:22532556 PMID:22700954 PMID:22973972 PMID:25741868 PMID:27000652 PMID:28492532 More...
NCBI chr 1:219,178,501...219,210,332
Ensembl chr 1:219,173,507...219,210,343
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WDR81
WD repeat domain 81
ISO
ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 2 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
OMIM ClinVar
PMID:16371500 PMID:21885617 PMID:25558065 PMID:25741868 PMID:25741909 PMID:25741914 PMID:25741916 PMID:26437881 PMID:28097321 PMID:28492532 PMID:28556411 PMID:28940097 PMID:28969387 More...
NCBI chr12:47,921,818...47,933,782
Ensembl chr12:47,922,012...47,933,778
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CA8
carbonic anhydrase 8
ISO
ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3 | ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3
OMIM ClinVar
PMID:19461874 PMID:21937992 PMID:25741868
NCBI chr 4:73,047,867...73,172,215
Ensembl chr 4:73,047,847...73,141,989
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LOC100523747
phospholipid-transporting ATPase IB
ISO
ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4
OMIM ClinVar
PMID:16199547 PMID:18326629 PMID:22892528 PMID:25741868 PMID:25741905 PMID:28454995 PMID:28492532 PMID:29531481 PMID:31397519 PMID:31612321 PMID:33079427 PMID:33682124 PMID:35321980 More...
NCBI chr11:3,277,395...3,793,881
Ensembl chr11:3,277,951...3,793,881
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ELF2
E74 like ETS transcription factor 2
ISO
ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
ClinVar
PMID:29628936
NCBI chr 8:87,774,594...87,878,847
Ensembl chr 8:87,854,699...87,878,662
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RFC1
replication factor C subunit 1
ISO
ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
OMIM ClinVar
PMID:25741868 PMID:35883251 PMID:36478048
NCBI chr 8:30,552,369...30,635,932
Ensembl chr 8:30,552,400...30,635,867
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CACNA2D2
calcium voltage-gated channel auxiliary subunit alpha2delta 2
ISO
ClinVar Annotator: match by term: Cerebellar atrophy with seizures and variable developmental delay
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:18487195 PMID:23339110 PMID:24358150 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29997391 PMID:30410802 PMID:31402629 More...
NCBI chr13:32,845,110...32,988,851
Ensembl chr13:32,845,115...32,988,774
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HEATR5B
HEAT repeat containing 5B
ISO
ClinVar Annotator: match by term: Cerebellar atrophy with seizures and variable developmental delay
ClinVar
NCBI chr 3:103,112,022...103,230,550
Ensembl chr 3:103,112,058...103,230,551
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LOC100517372
cytochrome b561 domain-containing protein 2
ISO
ClinVar Annotator: match by term: Cerebellar atrophy with seizures and variable developmental delay
ClinVar
PMID:25741868 PMID:28492532 PMID:29997391
NCBI chr13:32,834,206...32,837,007
Ensembl chr13:32,834,239...32,837,002
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KCNMA1
potassium calcium-activated channel subfamily M alpha 1
ISO
ClinVar Annotator: match by term: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES | ClinVar Annotator: match by term: Cerebellar atrophy, developmental delay, and seizures
ClinVar OMIM
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:27567911 PMID:28492532 PMID:29545233 More...
NCBI chr14:79,345,382...80,106,337
Ensembl chr14:79,352,005...80,106,295
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EMC1
ER membrane protein complex subunit 1
ISO
ClinVar Annotator: match by term: Cerebellar atrophy, visual impairment, and psychomotor retardation | ClinVar Annotator: match by term: EMC1-Related Disorder
OMIM ClinVar
PMID:16199547 PMID:25741868 PMID:26572623 PMID:26942288 PMID:27657687 PMID:28492532 PMID:29271071 PMID:30577886 PMID:31904590 PMID:32092440 PMID:33236988 PMID:34426522 More...
NCBI chr 6:77,723,374...77,747,780
Ensembl chr 6:77,718,849...77,747,771
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BRF1
BRF1 RNA polymerase III transcription initiation factor subunit
ISO
ClinVar Annotator: match by term: Cerebellar-facial-dental syndrome
OMIM ClinVar
PMID:25561519 PMID:25741868 PMID:27748960 PMID:28492532
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ANKFY1
ankyrin repeat and FYVE domain containing 1
ISO
OMIM:270550
MouseDO
NCBI chr12:50,167,959...50,251,861
Ensembl chr12:50,168,049...50,251,768
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SACS
sacsin molecular chaperone
ISO
ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia | ClinVar Annotator: match by term: SACS-related condition
OMIM ClinVar
PMID:9536098 PMID:9892370 PMID:10053011 PMID:10610707 PMID:10655055 PMID:11788093 PMID:12873855 PMID:14718706 PMID:14718707 PMID:14718708 PMID:15156359 PMID:15486997 PMID:15985586 PMID:16007637 PMID:16198375 PMID:16199547 PMID:16606928 PMID:16944349 PMID:16961075 PMID:17516465 PMID:17576681 PMID:18414213 PMID:18439928 PMID:18465152 PMID:18484239 PMID:18569450 PMID:18604465 PMID:19208651 PMID:19779133 PMID:19892370 PMID:20301432 PMID:20368637 PMID:20798953 PMID:20852969 PMID:20876471 PMID:21410841 PMID:21450511 PMID:21507954 PMID:21665375 PMID:21745802 PMID:21993619 PMID:22209141 PMID:22287014 PMID:22307627 PMID:22751902 PMID:22816526 PMID:22892508 PMID:23043354 PMID:23123642 PMID:23250129 PMID:23280630 PMID:23338241 PMID:23497566 PMID:23598833 PMID:24033266 PMID:24108619 PMID:24164681 PMID:24180463 PMID:24318559 PMID:24384335 PMID:24457356 PMID:25237835 PMID:25260547 PMID:25326637 PMID:25401298 PMID:25405613 PMID:25497598 PMID:25741868 PMID:25819952 PMID:25887915 PMID:26010040 PMID:26068213 PMID:26288984 PMID:26302956 PMID:26366743 PMID:26410750 PMID:26467025 PMID:26530509 PMID:26539891 PMID:27133561 PMID:27142713 PMID:27217339 PMID:27288452 PMID:27391121 PMID:27433545 PMID:27871429 PMID:27965395 PMID:27980752 PMID:28251916 PMID:28362824 PMID:28454995 PMID:28491899 PMID:28492532 PMID:28535259 PMID:28641335 PMID:28658401 PMID:28832565 PMID:28972115 PMID:29220673 PMID:29277257 PMID:29379980 PMID:29389947 PMID:29417091 PMID:29453517 PMID:29482223 PMID:29538656 PMID:29858556 PMID:29915382 PMID:29945973 PMID:29968200 PMID:30271475 PMID:30460542 PMID:30638817 PMID:30680480 PMID:30866998 PMID:30901567 PMID:31069529 PMID:31230722 PMID:31429931 PMID:31475473 PMID:31493945 PMID:31519934 PMID:31637422 PMID:31673878 PMID:31692161 PMID:31743419 PMID:31920494 PMID:31980526 PMID:32140197 PMID:32488064 PMID:32606552 PMID:32816195 PMID:33414805 PMID:33624863 PMID:33746006 PMID:33956305 PMID:34121011 PMID:34426522 PMID:34600502 PMID:34649874 PMID:34663476 PMID:34758253 PMID:34786481 PMID:34816117 PMID:35130357 PMID:35326432 PMID:35499206 PMID:35578252 PMID:35731353 PMID:36233161 More...
NCBI chr11:2,382,406...2,455,756
Ensembl chr11:2,382,906...2,442,316
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SGCG
sarcoglycan gamma
ISO
ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia
ClinVar
PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr11:2,310,280...2,380,054
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TGFBR1
transforming growth factor beta receptor 1
ISO
ClinVar Annotator: match by term: SPASTIC ATAXIA 6, AUTOSOMAL RECESSIVE
ClinVar
PMID:25326637 PMID:28492532
NCBI chr 1:240,842,735...240,918,267
Ensembl chr 1:240,860,156...240,918,528
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MAPK1
mitogen-activated protein kinase 1
ISO
protein:increased expression:brain:
RGD
PMID:21466243
RGD:13702864
NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,513
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DYNC1H1
dynein cytoplasmic 1 heavy chain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
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SMN1
survival of motor neuron 1, telomeric
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17924536
NCBI chr16:47,738,776...47,777,381
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DNAJC3
DnaJ heat shock protein family (Hsp40) member C3
ISO
ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus
OMIM ClinVar
PMID:25466870 PMID:25741868 PMID:28940199 PMID:32738013 PMID:33486469
NCBI chr11:65,230,145...65,299,084
Ensembl chr11:65,230,162...65,303,834
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DNAJC6
DnaJ heat shock protein family (Hsp40) member C6
ISO
ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus
ClinVar
PMID:2256350 PMID:22563501 PMID:24220513 PMID:32214227 PMID:33983693
NCBI chr 6:146,990,115...147,161,010
Ensembl chr 6:146,989,351...147,155,131
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MAFA
MAF bZIP transcription factor A
ISO
ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus
ClinVar
PMID:25741868
NCBI chr 4:1,090,018...1,093,600
Ensembl chr 4:1,091,263...1,092,818
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FRMD4A
FERM domain containing 4A
ISO
ClinVar Annotator: match by term: Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia
OMIM ClinVar
PMID:25388005 PMID:25741868 PMID:28492532
NCBI chr10:47,384,867...48,048,948
Ensembl chr10:47,384,861...48,049,706
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ABCC5
ATP binding cassette subfamily C member 5
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:121,868,614...121,957,901
Ensembl chr13:121,869,600...121,926,071
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ABCF3
ATP binding cassette subfamily F member 3
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:122,102,939...122,112,896
Ensembl chr13:122,105,344...122,113,559
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ACTL6A
actin like 6A
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:117,598,415...117,627,311
Ensembl chr13:117,598,496...117,628,488
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ALG3
ALG3 alpha-1,3- mannosyltransferase
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:122,142,044...122,148,777
Ensembl chr13:122,141,967...122,148,206
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ALG3
ALG3 alpha-1,3- mannosyltransferase
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:122,156,080...122,158,396
Ensembl chr13:122,156,041...122,158,367
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AP2M1
adaptor related protein complex 2 subunit mu 1
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:122,094,375...122,103,408
Ensembl chr13:122,094,437...122,104,802
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ATP11B
ATPase phospholipid transporting 11B (putative)
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:120,727,633...120,873,907
Ensembl chr13:120,727,608...120,873,930
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B3GNT5
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:121,205,070...121,222,997
Ensembl chr13:121,206,550...121,223,922
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C13H3orf70
chromosome 13 C3orf70 homolog
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:122,958,339...123,058,988
Ensembl chr13:122,958,347...123,058,655
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CCDC39
coiled-coil domain 39 molecular ruler complex subunit
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:118,623,787...118,773,205
Ensembl chr13:118,626,330...118,682,281
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CHRD
chordin
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:122,266,632...122,277,513
Ensembl chr13:122,266,626...122,277,645
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CLCN2
chloride voltage-gated channel 2
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:122,234,731...122,249,889
Ensembl chr13:122,234,736...122,249,867
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DCUN1D1
defective in cullin neddylation 1 domain containing 1
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:120,914,001...120,950,825
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DNAJC19
DnaJ heat shock protein family (Hsp40) member C19
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:118,907,299...118,913,270
Ensembl chr13:118,902,666...118,913,270
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DVL3
dishevelled segment polarity protein 3
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:122,075,851...122,092,975
Ensembl chr13:122,076,003...122,092,971
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ECE2
endothelin converting enzyme 2
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:122,148,928...122,179,522
Ensembl chr13:122,165,152...122,179,498 Ensembl chr13:122,165,152...122,179,498
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EHHADH
enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:123,104,085...123,162,119
Ensembl chr13:123,104,101...123,176,086
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EIF2B5
eukaryotic translation initiation factor 2B subunit epsilon
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:122,060,408...122,070,327
Ensembl chr13:122,060,473...122,070,304
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EIF4G1
eukaryotic translation initiation factor 4 gamma 1
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:122,203,488...122,225,371
Ensembl chr13:122,203,508...122,225,360
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EPHB3
EPH receptor B3
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:122,467,561...122,488,296
Ensembl chr13:122,467,588...122,488,292
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FAM131A
family with sequence similarity 131 member A
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:122,225,519...122,234,810
Ensembl chr13:122,225,956...122,234,810
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FXR1
FMR1 autosomal homolog 1
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:118,839,314...118,899,804
Ensembl chr13:118,839,338...118,900,136
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GNB4
G protein subunit beta 4
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:117,442,594...117,513,387
Ensembl chr13:117,436,673...117,513,392
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IGF2BP2
insulin like growth factor 2 mRNA binding protein 2
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:123,485,619...123,650,050
Ensembl chr13:123,485,628...123,650,039
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KCNMB2
potassium calcium-activated channel subfamily M regulatory beta subunit 2
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:116,745,204...116,999,300
Ensembl chr13:116,969,591...116,998,200
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KCNMB3
potassium calcium-activated channel subfamily M regulatory beta subunit 3
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:117,283,505...117,370,306
Ensembl chr13:117,283,631...117,309,863
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KLHL24
kelch like family member 24
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:121,564,833...121,608,146
Ensembl chr13:121,570,591...121,608,139
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KLHL6
kelch like family member 6
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:121,426,618...121,487,260
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LAMP3
lysosomal associated membrane protein 3
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:121,081,717...121,117,660
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LINC02054
long intergenic non-protein coding RNA 2054
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:122,319,988...122,332,332
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LIPH
lipase H
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:123,372,909...123,419,505
Ensembl chr13:123,371,860...123,419,434
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LOC100156142
5-hydroxytryptamine receptor 3D-like
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:121,969,190...121,977,096
Ensembl chr13:121,969,656...121,975,217
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LOC102163598
5-hydroxytryptamine receptor 3C-like
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:121,987,063...121,995,297
Ensembl chr13:121,988,806...121,994,463
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MAGEF1
MAGE family member F1
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:122,600,984...122,602,700
Ensembl chr13:122,598,928...122,602,646
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MAP3K13
mitogen-activated protein kinase kinase kinase 13
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:123,176,077...123,357,551
Ensembl chr13:123,176,188...123,352,775
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MAP6D1
MAP6 domain containing 1
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:121,738,392...121,755,482
Ensembl chr13:121,748,648...121,755,445
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MCCC1
methylcrotonyl-CoA carboxylase subunit 1
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:120,983,226...121,070,695
Ensembl chr13:120,915,730...121,106,395
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MCF2L2
MCF.2 cell line derived transforming sequence-like 2
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:121,130,924...121,378,371
Ensembl chr13:121,132,948...121,378,371
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MFN1
mitofusin 1
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:117,404,637...117,441,750
Ensembl chr13:117,404,699...117,442,481
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MIR1224
microRNA mir-1224
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:122,141,042...122,141,149
Ensembl chr13:122,141,042...122,141,149
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MNX1
motor neuron and pancreas homeobox 1
ISO
ClinVar Annotator: match by term: Currarino triad
OMIM ClinVar
PMID:7550324 PMID:9843207 PMID:10631160 PMID:10749657 PMID:11528505 PMID:16254195 PMID:16906559 PMID:18449898 PMID:24095820 PMID:25741868 PMID:28492532 PMID:29401559 PMID:32571425 PMID:33836786 PMID:38177409 More...
NCBI chr18:1,724,930...1,730,724
Ensembl chr18:1,725,244...1,730,878
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MRPL47
mitochondrial ribosomal protein L47
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:117,626,846...117,656,388
Ensembl chr13:117,625,330...117,656,389
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NDUFB5
NADH:ubiquinone oxidoreductase subunit B5
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:117,656,411...117,671,515
Ensembl chr13:117,656,503...117,678,509
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PARL
presenilin associated rhomboid like
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:121,758,734...121,813,679
Ensembl chr13:121,758,738...121,813,638
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PCSK5
proprotein convertase subtilisin/kexin type 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18519639
NCBI chr 1:228,854,587...229,308,054
Ensembl chr 1:228,854,595...229,308,906
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PEX5L
peroxisomal biogenesis factor 5 like
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:117,832,199...118,088,383
Ensembl chr13:117,833,705...118,088,277
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PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587
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POLR2H
RNA polymerase II, I and III subunit H
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:122,250,087...122,256,201
Ensembl chr13:122,250,020...122,256,195
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PSMD2
proteasome 26S subunit ubiquitin receptor, non-ATPase 2
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:122,187,500...122,199,397
Ensembl chr13:122,187,466...122,199,400
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SENP2
SUMO specific peptidase 2
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:123,429,915...123,469,913
Ensembl chr13:123,429,995...123,471,926
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SOX2
SRY-box transcription factor 2
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:119,668,476...119,669,435
Ensembl chr13:119,668,476...119,669,435
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THPO
thrombopoietin
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:122,259,654...122,267,860
Ensembl chr13:122,260,215...122,267,860
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TMEM41A
transmembrane protein 41A
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:123,356,438...123,365,206
Ensembl chr13:123,356,438...123,365,209
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TTC14
tetratricopeptide repeat domain 14
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:118,614,392...118,638,229
Ensembl chr13:118,614,424...118,638,223
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USP13
ubiquitin specific peptidase 13
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:117,700,080...117,826,951
Ensembl chr13:117,700,119...117,826,944
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VPS8
VPS8 subunit of CORVET complex
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:122,693,681...122,953,625
Ensembl chr13:122,693,760...122,950,420
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YEATS2
YEATS domain containing 2
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:121,637,823...121,746,131
Ensembl chr13:121,637,874...121,746,122
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ZMAT3
zinc finger matrin-type 3
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:117,113,272...117,147,639
Ensembl chr13:117,117,626...117,147,604
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ZNF639
zinc finger protein 639
ISO
ClinVar Annotator: match by term: Currarino triad
ClinVar
PMID:21681106 PMID:27549440
NCBI chr13:117,370,496...117,384,046
Ensembl chr13:117,370,544...117,384,041
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ATN1
atrophin 1
ISO
ClinVar Annotator: match by term: Dentatorubral-pallidoluysian atrophy
OMIM ClinVar
PMID:25741868
NCBI chr 5:63,782,159...63,795,648
Ensembl chr 5:63,782,162...63,795,648
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CACNB4
calcium voltage-gated channel auxiliary subunit beta 4
susceptibility
ISO
ClinVar Annotator: match by term: Episodic ataxia type 5
ClinVar OMIM
PMID:10762541 PMID:25741868 PMID:26467025 PMID:28166811 PMID:28492532
NCBI chr15:402,801...455,691
Ensembl chr15:186,434...459,856
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SLC1A3
solute carrier family 1 member 3
ISO
ClinVar Annotator: match by term: Episodic ataxia type 6
OMIM ClinVar
PMID:16116111 PMID:19139306 PMID:23107647 PMID:24214974 PMID:25497598 PMID:25741868 PMID:26467025 PMID:28166811 PMID:28472652 PMID:28492532 PMID:29062094 PMID:29208948 PMID:30257206 PMID:32741053 More...
NCBI chr16:21,873,691...21,965,315
Ensembl chr16:21,873,691...21,964,990
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CACNA1A
calcium voltage-gated channel subunit alpha1 A
ISO
ClinVar Annotator: match by term: Migraine, familial hemiplegic 1, with progressive cerebellar ataxia | ClinVar Annotator: match by term: Migraine, familial hemiplegic, 1 | ClinVar Annotator: match by term: Migraine, sporadic hemiplegic, with progressive cerebellar ataxia | ClinVar Annotator: match by term: Sporadic hemiplegic migraine
OMIM ClinVar
PMID:7537420 PMID:8734765 PMID:8898206 PMID:9329229 PMID:9488686 PMID:9566402 PMID:9915947 PMID:10024348 PMID:10371528 PMID:10408532 PMID:10408534 PMID:10734061 PMID:10987655 PMID:11061267 PMID:11176968 PMID:11409427 PMID:11439943 PMID:11814735 PMID:11960817 PMID:11971066 PMID:12056940 PMID:12111613 PMID:12235360 PMID:12707077 PMID:12756131 PMID:14718690 PMID:15032980 PMID:15240985 PMID:15452324 PMID:15743764 PMID:15795222 PMID:16043807 PMID:16199547 PMID:16508934 PMID:17142831 PMID:17292920 PMID:17588611 PMID:18056581 PMID:18279427 PMID:18313928 PMID:18400034 PMID:18437043 PMID:18581134 PMID:19242091 PMID:19344873 PMID:19486177 PMID:19520699 PMID:19586927 PMID:19624685 PMID:20080591 PMID:20129625 PMID:20301562 PMID:20837964 PMID:21734179 PMID:22000314 PMID:22190617 PMID:22249839 PMID:22527033 PMID:22784462 PMID:22969264 PMID:23183922 PMID:23407676 PMID:23934111 PMID:23961289 PMID:24033266 PMID:24270521 PMID:24486772 PMID:24498617 PMID:24996492 PMID:25266619 PMID:25274239 PMID:25326635 PMID:25716839 PMID:25735478 PMID:25741868 PMID:25851414 PMID:25969684 PMID:26467025 PMID:26716990 PMID:26814174 PMID:26912519 PMID:27066515 PMID:27250579 PMID:27959697 PMID:28007337 PMID:28169007 PMID:28492532 PMID:28566750 PMID:28856914 PMID:28900389 PMID:28978442 PMID:29056246 PMID:29100083 PMID:29165669 PMID:29444203 PMID:29915382 PMID:30063100 PMID:30283815 PMID:31468518 PMID:31487502 PMID:31506931 PMID:31692161 PMID:31824404 PMID:32170034 PMID:33084218 PMID:33098801 PMID:33144682 PMID:33278787 PMID:34102571 PMID:34436362 PMID:35401678 PMID:35722745 PMID:36530930 PMID:97053792 More...
NCBI chr 2:65,491,784...65,871,068
Ensembl chr 2:65,514,509...65,871,182
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WDR45
WD repeat domain 45
ISO
ClinVar Annotator: match by term: Migraine, familial hemiplegic, 1
ClinVar
PMID:25741868
NCBI chr X:43,150,691...43,155,981
Ensembl chr X:43,147,477...43,156,234
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AGTR1
angiotensin II receptor type 1
ISO
DNA:SNP: :rs5186(human)
RGD
PMID:21771600
RGD:401717567
NCBI chr13:88,934,873...88,980,317
Ensembl chr13:88,934,868...88,983,105
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FXN
frataxin
onset treatment
ISO
ClinVar Annotator: match by term: Friedreich ataxia DNA:repeat,deletion:intron,exon:GAA(human)
ClinVar RGD
PMID:8596916 PMID:9090376 PMID:9150176 PMID:9700204 PMID:9737785 PMID:9989622 PMID:10543403 PMID:10732799 PMID:11020385 PMID:11030757 PMID:11843702 PMID:12019217 PMID:17331979 PMID:17703324 PMID:18537827 PMID:19494730 PMID:19629184 PMID:19775837 PMID:20162437 PMID:21298097 PMID:22113996 PMID:22409940 PMID:25566998 PMID:25741868 PMID:26301374 PMID:26339677 PMID:26467025 PMID:26704351 PMID:28812047 PMID:31980526 PMID:32646255 PMID:34747814 PMID:37166361 More...
RGD:401793707 RGD:401793708 RGD:401793711 RGD:401793713
NCBI chr 1:222,412,485...222,433,224
Ensembl chr 1:222,412,509...222,454,776
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MT-ND1
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1
ISO
DNA:missense mutation:cds:m.3696C>T (human)
RGD
PMID:18807169
RGD:5490251
NCBI chr MT:3,922...4,876
Ensembl chr MT:3,922...4,876
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FXN
frataxin
ISO
ClinVar Annotator: match by term: Friedreich ataxia 1
OMIM ClinVar
PMID:25741868 PMID:26467025 PMID:34906502
NCBI chr 1:222,412,485...222,433,224
Ensembl chr 1:222,412,509...222,454,776
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ADAM10
ADAM metallopeptidase domain 10
ISO
ClinVar Annotator: match by term: Corticobasal syndrome
ClinVar
PMID:25741868
NCBI chr 1:113,289,480...113,407,940
Ensembl chr 1:113,289,209...113,412,798
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C9orf72
C9orf72-SMCR8 complex subunit
ISO
ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis/Frontotemporal Dementia
ClinVar
NCBI chr10:38,389,366...38,415,903
Ensembl chr10:38,389,331...38,415,901
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TTC3
tetratricopeptide repeat domain 3
ISO
ClinVar Annotator: match by term: Corticobasal syndrome
ClinVar
PMID:25741868
NCBI chr13:200,695,624...200,821,920
Ensembl chr13:200,707,866...200,812,436
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ADAMTS2
ADAM metallopeptidase with thrombospondin type 1 motif 2
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
ClinVar
PMID:26925868 PMID:28492532
NCBI chr 2:79,182,901...79,406,879
Ensembl chr 2:79,182,943...79,406,875
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C9orf72
C9orf72-SMCR8 complex subunit
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
OMIM ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:38,389,366...38,415,903
Ensembl chr10:38,389,331...38,415,901
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CANX
calnexin
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
ClinVar
PMID:26925868 PMID:28492532
NCBI chr 2:78,879,031...78,915,828
Ensembl chr 2:78,879,033...78,915,827
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CBY3
chibby family member 3
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
ClinVar
PMID:26925868 PMID:28492532
NCBI chr 2:78,933,852...78,936,011
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GRM6
glutamate metabotropic receptor 6
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
ClinVar
PMID:26925868 PMID:28492532
NCBI chr 2:79,466,899...79,480,562
Ensembl chr 2:79,466,779...79,479,146
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HNRNPH1
heterogeneous nuclear ribonucleoprotein H1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
ClinVar
PMID:26925868 PMID:28492532
NCBI chr 2:78,961,456...78,971,799
Ensembl chr 2:78,963,309...78,969,949
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LTC4S
leukotriene C4 synthase
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
ClinVar
PMID:26925868 PMID:28492532
NCBI chr 2:78,799,446...78,802,281
Ensembl chr 2:78,799,449...78,802,285
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MAML1
mastermind like transcriptional coactivator 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
ClinVar
PMID:26925868 PMID:28492532
NCBI chr 2:78,818,658...78,876,633
Ensembl chr 2:78,818,411...78,876,615
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MGAT4B
alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
ClinVar
PMID:26925868 PMID:28492532
NCBI chr 2:78,783,775...78,798,425
Ensembl chr 2:78,783,785...78,798,423
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RUFY1
RUN and FYVE domain containing 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
ClinVar
PMID:26925868 PMID:28492532
NCBI chr 2:78,974,361...79,021,677
Ensembl chr 2:78,963,989...79,021,574
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SQSTM1
sequestosome 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
ClinVar
PMID:9536098 PMID:11473345 PMID:11992264 PMID:12374763 PMID:14584883 PMID:15125799 PMID:15146436 PMID:15176995 PMID:15493999 PMID:15647816 PMID:15765181 PMID:16199547 PMID:16691492 PMID:16813535 PMID:17120186 PMID:17129171 PMID:17181397 PMID:17188686 PMID:17229007 PMID:17229008 PMID:17576681 PMID:18543015 PMID:18765443 PMID:19049332 PMID:19257822 PMID:19589897 PMID:20200946 PMID:20452972 PMID:20499339 PMID:21073987 PMID:21195346 PMID:21515589 PMID:21878516 PMID:22084127 PMID:22491873 PMID:22972638 PMID:23117207 PMID:23303844 PMID:23417734 PMID:23447461 PMID:23612225 PMID:23812289 PMID:23820649 PMID:23942205 PMID:24033266 PMID:24042580 PMID:24486447 PMID:24642144 PMID:24899140 PMID:25241215 PMID:25382069 PMID:25433461 PMID:25512523 PMID:25664955 PMID:25681989 PMID:25708934 PMID:25741868 PMID:25796131 PMID:25852467 PMID:26208961 PMID:26412716 PMID:26467025 PMID:26601740 PMID:26627873 PMID:26713335 PMID:26836416 PMID:26925868 PMID:27156075 PMID:27158844 PMID:27163810 PMID:27275741 PMID:27545679 PMID:27554286 PMID:27594680 PMID:27631370 PMID:28003435 PMID:28430856 PMID:28492532 PMID:28642336 PMID:28709720 PMID:29411640 PMID:29457785 PMID:29525180 PMID:29599744 PMID:29895397 PMID:29959261 PMID:30120248 PMID:30154079 PMID:30638816 PMID:30679323 PMID:30842500 PMID:31108397 PMID:31434890 PMID:31859009 PMID:31914217 PMID:31996268 PMID:32028661 PMID:32385536 PMID:32397312 PMID:32409511 PMID:32579787 PMID:32843152 PMID:33125541 PMID:33601107 PMID:33973882 PMID:34009082 PMID:34020145 PMID:34307757 PMID:34774801 PMID:36515702 More...
NCBI chr 2:78,752,768...78,763,998
Ensembl chr 2:78,752,771...78,763,938
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C14H22orf15
chromosome 14 C22orf15 homolog
ISO
ClinVar Annotator: match by term: FTDALS2
ClinVar
PMID:28492532
NCBI chr14:49,924,196...49,926,033
Ensembl chr14:49,923,613...49,926,264
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CHCHD10
coiled-coil-helix-coiled-coil-helix domain containing 10
ISO
ClinVar Annotator: match by term: FTDALS2 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:22535186 PMID:24934289 PMID:25113787 PMID:25155093 PMID:25193783 PMID:25261972 PMID:25348631 PMID:25428574 PMID:25576308 PMID:25681414 PMID:25700176 PMID:25726362 PMID:25741868 PMID:25833818 PMID:26152333 PMID:26224640 PMID:27810918 PMID:28069311 PMID:28492532 PMID:28585542 PMID:29112723 PMID:29121267 PMID:29315381 PMID:29540477 PMID:29789341 PMID:30014597 PMID:31690696 PMID:33749723 More...
NCBI chr14:49,921,600...49,923,529
Ensembl chr14:49,921,595...49,923,526
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SPG7
SPG7 matrix AAA peptidase subunit, paraplegin
ISO
ClinVar Annotator: match by term: FTDALS2
ClinVar
PMID:11222789 PMID:14985266 PMID:16534102 PMID:17661097 PMID:18200586 PMID:18799786 PMID:20186691 PMID:21623769 PMID:22571692 PMID:22964162 PMID:23065789 PMID:23269439 PMID:23733235 PMID:24033266 PMID:24727571 PMID:25497598 PMID:25681447 PMID:25741868 PMID:26467025 PMID:26506339 PMID:26626314 PMID:27084228 PMID:27165006 PMID:27957547 PMID:28362824 PMID:28444220 PMID:28492532 PMID:28832565 PMID:29026558 PMID:29057857 PMID:29246844 PMID:29915382 PMID:30098094 PMID:30537300 PMID:32581362 PMID:32973427 More...
NCBI chr 6:414,930...439,206
Ensembl chr 6:414,932...439,212
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SQSTM1
sequestosome 1
ISO
ClinVar Annotator: match by term: FTDALS3 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
OMIM ClinVar
PMID:11473345 PMID:11992264 PMID:14584883 PMID:15125799 PMID:15176995 PMID:15493999 PMID:15647816 PMID:15765181 PMID:16691492 PMID:16813535 PMID:17181397 PMID:17229007 PMID:17229008 PMID:18543015 PMID:18765443 PMID:19257822 PMID:19589897 PMID:20200946 PMID:20499339 PMID:21195346 PMID:21515589 PMID:21878516 PMID:22084127 PMID:22972638 PMID:23417734 PMID:23942205 PMID:24033266 PMID:24042580 PMID:24486447 PMID:24899140 PMID:25241215 PMID:25741868 PMID:25796131 PMID:26412716 PMID:26467025 PMID:26627873 PMID:26713335 PMID:27156075 PMID:27275741 PMID:27594680 PMID:28003435 PMID:28430856 PMID:28492532 PMID:29457785 PMID:29525180 PMID:29599744 PMID:29895397 PMID:30154079 PMID:30842500 PMID:31108397 PMID:31859009 PMID:32409511 PMID:32843152 PMID:35047667 More...
NCBI chr 2:78,752,768...78,763,998
Ensembl chr 2:78,752,771...78,763,938
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KIF5A
kinesin family member 5A
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
ClinVar
PMID:25741868 PMID:28492532 PMID:32579787
NCBI chr 5:22,813,617...22,851,976
Ensembl chr 5:22,816,854...22,851,973
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TBK1
TANK binding kinase 1
susceptibility
ISO
ClinVar Annotator: match by term: FTDALS4 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21447600 PMID:22851595 PMID:23453972 PMID:24033266 PMID:25700176 PMID:25741868 PMID:25741909 PMID:25803835 PMID:25943890 PMID:26476236 PMID:26581300 PMID:26804609 PMID:27156075 PMID:27892983 PMID:28008748 PMID:28089114 PMID:28365590 PMID:28492532 PMID:28822984 PMID:29146049 PMID:29398122 PMID:30033073 PMID:30739198 PMID:31000212 PMID:31244341 PMID:31475037 PMID:31498468 PMID:31748271 PMID:31914217 PMID:31996268 PMID:32317127 PMID:32409511 PMID:32447396 PMID:32579787 PMID:32638105 PMID:32772249 PMID:32980182 PMID:33208543 PMID:33245169 PMID:33618928 PMID:34099552 PMID:34363755 PMID:35260199 More...
NCBI chr 5:28,880,210...28,929,964
Ensembl chr 5:28,880,205...28,929,963
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APTX
aprataxin
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr10:33,470,089...33,495,584
Ensembl chr10:33,445,148...33,543,710
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AQP3
aquaporin 3
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr10:33,045,374...33,050,285
Ensembl chr10:33,045,245...33,051,082
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AQP7
aquaporin 7
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr10:33,098,746...33,130,245
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ARHGEF39
Rho guanine nucleotide exchange factor 39
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:236,383,684...236,387,705
Ensembl chr 1:236,383,925...236,387,667
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ARID3C
AT-rich interaction domain 3C
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr10:32,171,233...32,187,239
Ensembl chr10:32,172,871...32,180,604
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ATOSB
atos homolog B
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:235,895,613...235,907,142
Ensembl chr 1:235,895,621...235,907,113
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B4GALT1
beta-1,4-galactosyltransferase 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr10:33,317,295...33,381,285
Ensembl chr10:33,317,305...33,381,285
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BAG1
BAG cochaperone 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr10:33,227,530...33,240,731
Ensembl chr10:33,227,338...33,240,724
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CA9
carbonic anhydrase 9
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:236,393,727...236,400,994
Ensembl chr 1:236,394,306...236,400,822
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CCDC107
coiled-coil domain containing 107
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:236,380,572...236,383,671
Ensembl chr 1:236,380,577...236,383,666
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CCIN
calicin
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:236,947,871...236,950,447
Ensembl chr 1:236,948,636...236,950,402
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CCL19
C-C motif chemokine ligand 19
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr10:32,110,366...32,112,529
Ensembl chr10:32,110,065...32,112,734
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CCL21
C-C motif chemokine ligand 21
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr10:32,093,783...32,094,482
Ensembl chr10:32,093,763...32,096,224
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CCL27
C-C motif chemokine ligand 27
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr10:32,138,232...32,138,980
Ensembl chr10:32,138,232...32,138,974
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CD72
CD72 molecule
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:236,345,894...236,355,755
Ensembl chr 1:236,345,903...236,355,702
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CHMP5
charged multivesicular body protein 5
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr10:33,212,769...33,227,237
Ensembl chr10:33,211,516...33,227,302
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CIMIP2B
ciliary microtubule inner protein 2B
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:236,322,893...236,325,008
Ensembl chr 1:236,322,897...236,324,981
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CLTA
clathrin light chain A
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:236,971,317...236,993,291
Ensembl chr 1:236,971,505...237,001,731
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CNTFR
ciliary neurotrophic factor receptor
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr10:32,211,809...32,251,412
Ensembl chr10:32,211,777...32,251,503
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CREB3
cAMP responsive element binding protein 3
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:236,450,573...236,456,381
Ensembl chr 1:236,450,573...236,456,375
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DCAF12
DDB1 and CUL4 associated factor 12
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr10:32,673,982...32,714,940
Ensembl chr10:32,674,045...32,714,940
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DCTN3
dynactin subunit 3
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr10:32,180,557...32,187,239
Ensembl chr10:32,180,613...32,188,059
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DNAI1
dynein axonemal intermediate chain 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr10:32,275,173...32,355,444
Ensembl chr10:32,275,175...32,355,399
G
DNAJA1
DnaJ heat shock protein family (Hsp40) member A1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr10:33,432,529...33,445,556
Ensembl chr10:33,432,844...33,445,532
G
DNAJB5
DnaJ heat shock protein family (Hsp40) member B5
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:235,790,657...235,799,385
Ensembl chr 1:235,790,749...235,799,381
G
ENHO
energy homeostasis associated
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr10:32,273,136...32,275,177
Ensembl chr10:32,273,086...32,275,114
G
EXOSC3
exosome component 3
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:238,536,341...238,541,756
Ensembl chr 1:238,536,345...238,541,333
G
FAM219A
family with sequence similarity 219 member A
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr10:32,355,628...32,422,412
Ensembl chr10:32,355,647...32,420,092
G
FAM221B
family with sequence similarity 221 member B
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:236,538,172...236,551,064
Ensembl chr 1:236,539,262...236,547,959
G
FANCG
FA complementation group G
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:235,871,073...235,879,604
Ensembl chr 1:235,871,075...235,877,974
G
FBXO10
F-box protein 10
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:238,232,855...238,308,661
Ensembl chr 1:238,232,867...238,308,625
G
FRMPD1
FERM and PDZ domain containing 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:238,371,311...238,511,714
Ensembl chr 1:238,371,336...238,511,715
G
GALT
galactose-1-phosphate uridylyltransferase
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr10:32,151,150...32,154,792
Ensembl chr10:32,151,177...32,154,740
G
GBA2
glucosylceramidase beta 2
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:236,456,238...236,467,887
Ensembl chr 1:236,455,240...236,468,210
G
GLIPR2
GLI pathogenesis related 2
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:236,919,821...236,943,828
Ensembl chr 1:236,919,879...236,943,823
G
GNE
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:236,998,754...237,065,819
Ensembl chr 1:236,998,757...237,065,767
G
GRHPR
glyoxylate and hydroxypyruvate reductase
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:238,139,764...238,151,631
Ensembl chr 1:238,139,794...238,152,382
G
HINT2
histidine triad nucleotide binding protein 2
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:236,532,316...236,535,263
G
HRCT1
histidine rich carboxyl terminus 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:236,670,418...236,671,435
Ensembl chr 1:236,670,604...236,670,948
G
IL11RA
interleukin 11 receptor subunit alpha
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr10:32,138,984...32,149,315
Ensembl chr10:32,139,063...32,146,138
G
KIF24
kinesin family member 24
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr10:32,454,615...32,552,763
Ensembl chr10:32,467,072...32,552,375
G
LOC100157239
olfactory receptor 13J1-like
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:236,595,655...236,597,257
G
LOC100519461
olfactory receptor 2S2
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:236,709,468...236,712,100
Ensembl chr 1:236,709,673...236,710,632
G
MELK
maternal embryonic leucine zipper kinase
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:237,317,161...237,431,522
Ensembl chr 1:237,317,191...237,431,589
G
MSMP
microseminoprotein, prostate associated
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:236,472,652...236,473,664
Ensembl chr 1:236,472,424...236,473,862
G
MYORG
myogenesis regulating glycosidase (putative)
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr10:32,436,349...32,443,971
Ensembl chr10:32,436,656...32,443,968
G
NDUFB6
NADH:ubiquinone oxidoreductase subunit B6
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr10:33,849,206...33,865,080
Ensembl chr10:33,802,051...33,865,385
G
NFX1
nuclear transcription factor, X-box binding 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr10:33,126,460...33,200,819
Ensembl chr10:33,126,607...33,200,680
G
NOL6
nucleolar protein 6
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr10:33,022,035...33,035,201
Ensembl chr10:33,022,035...33,035,200
G
NPR2
natriuretic peptide receptor 2
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:236,508,994...236,529,172
Ensembl chr 1:236,508,998...236,529,128
G
NUDT2
nudix hydrolase 2
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr10:32,450,986...32,466,893
Ensembl chr10:32,451,064...32,466,839
G
PAX5
paired box 5
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:237,574,938...237,785,454
Ensembl chr 1:237,575,061...237,785,413
G
PHF24
PHD finger protein 24
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:235,757,499...235,783,053
Ensembl chr 1:235,757,797...235,783,051
G
PIGO
phosphatidylinositol glycan anchor biosynthesis class O
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:235,880,088...235,888,338
Ensembl chr 1:235,878,355...235,887,993
G
POLR1E
RNA polymerase I subunit E
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:238,197,659...238,219,475
Ensembl chr 1:238,197,684...238,220,524
G
RECK
reversion inducing cysteine rich protein with kazal motifs
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:236,821,243...236,898,280
Ensembl chr 1:236,821,414...236,898,276
G
RGP1
RGP1 homolog, RAB6A GEF complex partner 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:236,468,115...236,478,347
Ensembl chr 1:236,468,320...236,477,683
G
RIGI
RNA sensor RIG-I
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr10:33,891,720...33,976,151
Ensembl chr10:33,891,763...33,933,455
G
RNF38
ring finger protein 38
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:237,111,002...237,240,311
Ensembl chr 1:237,111,012...237,235,485
G
RPP25L
ribonuclease P/MRP subunit p25 like
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr10:32,189,182...32,191,429
Ensembl chr10:32,189,204...32,191,426
G
RUSC2
RUN and SH3 domain containing 2
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:236,265,915...236,322,958
Ensembl chr 1:236,299,344...236,322,953
G
SIGMAR1
sigma non-opioid intracellular receptor 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr10:32,160,767...32,163,540
Ensembl chr10:32,160,822...32,164,718
G
SIT1
signaling threshold regulating transmembrane adaptor 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:236,371,708...236,373,414
Ensembl chr 1:236,371,699...236,373,419
G
SMU1
SMU1 DNA replication regulator and spliceosomal factor
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr10:33,399,383...33,426,313
Ensembl chr10:33,399,383...33,430,971
G
SPAG8
sperm associated antigen 8
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:236,526,659...236,532,181
Ensembl chr 1:236,529,269...236,534,734
G
SPATA31F3
SPATA31 subfamily F member 3
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:235,677,529...235,687,421
G
SPATA31G1
SPATA31 subfamily G member 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:235,844,826...235,849,556
Ensembl chr 1:235,842,554...235,848,767
G
SPINK4
serine peptidase inhibitor Kazal type 4
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr10:33,246,260...33,255,617
Ensembl chr10:33,246,247...33,255,688
G
SPMIP6
sperm microtubule inner protein 6
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr10:32,419,965...32,435,622
Ensembl chr10:32,419,795...32,435,884
G
STOML2
stomatin like 2
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:235,891,479...235,894,944
Ensembl chr 1:235,890,679...235,894,737
G
TESK1
testis associated actin remodelling kinase 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:236,341,160...236,345,964
Ensembl chr 1:236,341,261...236,345,962
G
TLN1
talin 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:236,416,041...236,450,978
Ensembl chr 1:236,416,044...236,450,922
G
TMEM215
transmembrane protein 215
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr10:33,663,263...33,670,510
Ensembl chr10:33,664,793...33,670,295
G
TMEM8B
transmembrane protein 8B
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:236,550,759...236,583,635
Ensembl chr 1:236,551,434...236,584,376
G
TOMM5
translocase of outer mitochondrial membrane 5
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:238,328,894...238,333,066
G
TOPORS
TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr10:33,865,967...33,878,135
Ensembl chr10:33,865,959...33,879,070
G
TPM2
tropomyosin 2
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:236,402,249...236,410,390
Ensembl chr 1:236,402,251...236,410,905
G
TRMT10B
tRNA methyltransferase 10B
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:238,516,042...238,536,372
Ensembl chr 1:238,516,058...238,537,149
G
UBAP1
ubiquitin associated protein 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr10:32,552,243...32,626,100
Ensembl chr10:32,552,245...32,626,083
G
UBAP2
ubiquitin associated protein 2
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr10:32,755,707...32,897,260
Ensembl chr10:32,756,040...32,892,867
G
UBE2R2
ubiquitin conjugating enzyme E2 R2
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr10:32,894,424...33,014,473
Ensembl chr10:32,894,432...33,014,473
G
UNC13B
unc-13 homolog B
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:235,918,751...236,158,098
Ensembl chr 1:235,918,747...236,158,098
G
VCP
valosin containing protein
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
OMIM ClinVar
PMID:7182974 PMID:9536098 PMID:12446676 PMID:15034582 PMID:16247064 PMID:16321991 PMID:16790606 PMID:16984901 PMID:17329348 PMID:17576681 PMID:17622780 PMID:17763460 PMID:17889967 PMID:17935506 PMID:18341608 PMID:18845250 PMID:19208399 PMID:19225410 PMID:19237541 PMID:19364651 PMID:19506019 PMID:19704082 PMID:20008565 PMID:20104022 PMID:20512113 PMID:20604808 PMID:20957154 PMID:21145000 PMID:21249466 PMID:21320982 PMID:21387114 PMID:21816654 PMID:21822278 PMID:21880997 PMID:21920633 PMID:21984748 PMID:22078486 PMID:22137929 PMID:22270372 PMID:22572540 PMID:22686199 PMID:22898872 PMID:22900631 PMID:22909335 PMID:23000505 PMID:23029473 PMID:23056506 PMID:23152587 PMID:23169451 PMID:23333620 PMID:23498975 PMID:23868359 PMID:24123792 PMID:24196964 PMID:24829604 PMID:24838343 PMID:25125609 PMID:25326637 PMID:25388089 PMID:25457024 PMID:25492614 PMID:25617006 PMID:25618255 PMID:25741868 PMID:25775548 PMID:25878907 PMID:26105173 PMID:26467025 PMID:26511028 PMID:26549226 PMID:26555887 PMID:26627873 PMID:26809617 PMID:26853221 PMID:27165006 PMID:27209344 PMID:27226613 PMID:27538664 PMID:27708273 PMID:27768726 PMID:27790088 PMID:28130640 PMID:28360103 PMID:28492532 PMID:28542158 PMID:28692196 PMID:28709720 PMID:28738334 PMID:29033165 PMID:29127544 PMID:29754758 PMID:29770363 PMID:29899994 PMID:30005904 PMID:30103325 PMID:30103957 PMID:30270202 PMID:30279455 PMID:30293881 PMID:30488450 PMID:30955949 PMID:31687228 PMID:31848255 PMID:31862442 PMID:31914217 PMID:32028661 PMID:32036797 PMID:32317127 PMID:32481679 PMID:32528171 PMID:32579787 PMID:32671691 PMID:33144514 PMID:33415820 PMID:34573259 PMID:35741724 PMID:36980948 More...
NCBI chr 1:235,854,532...235,869,712
Ensembl chr 1:235,851,206...235,869,634
G
ZBTB5
zinc finger and BTB domain containing 5
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:238,153,165...238,179,344
Ensembl chr 1:238,153,168...238,177,461
G
ZCCHC7
zinc finger CCHC-type containing 7
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
ClinVar
PMID:28492532
NCBI chr 1:237,820,675...238,068,505
Ensembl chr 1:237,820,363...238,068,305
G
CHMP2B
charged multivesicular body protein 2B
ISO
ClinVar Annotator: match by term: CHMP2B-related condition | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
OMIM ClinVar
PMID:9536098 PMID:16041373 PMID:16431024 PMID:16807408 PMID:16941655 PMID:16954699 PMID:17576681 PMID:17956895 PMID:20301378 PMID:20352044 PMID:20592581 PMID:20625756 PMID:21222599 PMID:22521643 PMID:22527221 PMID:23155438 PMID:25558820 PMID:25741868 PMID:26467025 PMID:26777436 PMID:26836416 PMID:28166811 PMID:28430856 PMID:28492532 PMID:29411640 PMID:29431110 PMID:29486463 PMID:29525180 PMID:30054184 PMID:30766798 PMID:32638105 More...
NCBI chr13:168,534,950...168,569,574
Ensembl chr13:168,533,694...168,569,688
G
POU1F1
POU class 1 homeobox 1
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
ClinVar
PMID:28492532
NCBI chr13:168,510,671...168,530,394
Ensembl chr13:168,510,774...168,529,345
G
CCNF
cyclin F
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 5
OMIM ClinVar
PMID:25741868 PMID:27080313 PMID:28281833 PMID:31577344
NCBI chr 3:39,585,597...39,603,088
Ensembl chr 3:39,585,607...39,603,079
G
CYLD
CYLD lysine 63 deubiquitinase
ISO
ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
OMIM ClinVar
PMID:10835629 PMID:19462465 PMID:23338750 PMID:24728327 PMID:25741868 PMID:28492532 PMID:32185393 More...
NCBI chr 6:34,058,091...34,121,939
Ensembl chr 6:34,059,081...34,121,264
G
GON7
GON7 subunit of KEOPS complex
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome
ClinVar
PMID:25741868 PMID:31481669
NCBI chr 7:114,586,306...114,590,804
Ensembl chr 7:114,585,474...114,590,787
G
LAGE3
L antigen family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28805828
NCBI chr X:125,001,673...125,003,206
G
OSGEP
O-sialoglycoprotein endopeptidase
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome
ClinVar
PMID:17897280 PMID:25741868 PMID:28272532 PMID:28805828
NCBI chr 7:78,454,667...78,462,260
Ensembl chr 7:78,454,666...78,462,258
G
TP53RK
TP53 regulating kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28805828
NCBI chr17:48,814,402...48,817,984
Ensembl chr17:48,814,703...48,817,824
G
TPRKB
TP53RK binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28805828
NCBI chr 3:69,235,111...69,243,709
Ensembl chr 3:69,236,351...69,243,914
G
WDR4
WD repeat domain 4
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome
ClinVar
PMID:25741868 PMID:30079490
NCBI chr13:206,074,943...206,094,713
Ensembl chr13:206,074,945...206,094,297
G
WDR73
WD repeat domain 73
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25466283
NCBI chr 7:52,887,468...52,904,147
Ensembl chr 7:52,887,530...52,904,146
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ZNF592
zinc finger protein 592
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20531441
NCBI chr 7:52,731,690...52,793,950
Ensembl chr 7:52,731,224...52,793,927
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ENG
endoglin
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 1
ClinVar
PMID:12673790 PMID:15879500 PMID:21158752 PMID:23399955 PMID:24055113 PMID:25637381 PMID:25741868 PMID:28492532 More...
NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,309,400...268,343,783
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WDR73
WD repeat domain 73
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 | ClinVar Annotator: match by term: WDR73-related condition
OMIM ClinVar
PMID:11391656 PMID:12030328 PMID:16217710 PMID:20531441 PMID:25466283 PMID:25741868 PMID:25873735 PMID:26070982 PMID:26123727 PMID:27001912 PMID:28492532 PMID:29127259 PMID:30315938 PMID:31130284 More...
NCBI chr 7:52,887,468...52,904,147
Ensembl chr 7:52,887,530...52,904,146
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ZNF592
zinc finger protein 592
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 1
ClinVar
PMID:12030328 PMID:20531441 PMID:25741868 PMID:26123727
NCBI chr 7:52,731,690...52,793,950
Ensembl chr 7:52,731,224...52,793,927
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C6H1orf122
chromosome 6 C1orf122 homolog
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 10
ClinVar
PMID:31481669
NCBI chr 6:93,833,766...93,834,925
Ensembl chr 6:93,833,760...93,834,916
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YRDC
yrdC N6-threonylcarbamoyltransferase domain containing
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 10
OMIM ClinVar
PMID:31481669 PMID:34545459
NCBI chr 6:93,829,320...93,833,776
Ensembl chr 6:93,829,321...93,833,842
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LAGE3
L antigen family member 3
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 2, X-linked
OMIM ClinVar
PMID:12693786 PMID:25741868 PMID:28492532 PMID:28805828
NCBI chr X:125,001,673...125,003,206
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OSGEP
O-sialoglycoprotein endopeptidase
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 3
OMIM ClinVar
PMID:11519896 PMID:15966048 PMID:17897280 PMID:18019379 PMID:21791310 PMID:25741868 PMID:28272532 PMID:28492532 PMID:28805828 PMID:29127259 PMID:30141175 PMID:31564459 PMID:33333793 PMID:33532864 PMID:36856752 More...
NCBI chr 7:78,454,667...78,462,260
Ensembl chr 7:78,454,666...78,462,258
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TP53RK
TP53 regulating kinase
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 4
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28805828 PMID:32581362
NCBI chr17:48,814,402...48,817,984
Ensembl chr17:48,814,703...48,817,824
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TPRKB
TP53RK binding protein
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 5
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28805828 PMID:29127259
NCBI chr 3:69,235,111...69,243,709
Ensembl chr 3:69,236,351...69,243,914
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WDR4
WD repeat domain 4
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 6
OMIM ClinVar
PMID:25741868 PMID:26416026 PMID:28492532 PMID:28617965 PMID:29597095 PMID:30079490 More...
NCBI chr13:206,074,943...206,094,713
Ensembl chr13:206,074,945...206,094,297
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NUP107
nucleoporin 107
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 7
OMIM ClinVar
PMID:25558065 PMID:25741868 PMID:28117080 PMID:28280135 PMID:28492532 PMID:30179222 More...
NCBI chr 5:32,989,661...33,040,565
Ensembl chr 5:32,989,794...33,042,575
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NUP133
nucleoporin 133
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 8
OMIM ClinVar
PMID:11793129 PMID:25741868 PMID:28492532 PMID:30427554
NCBI chr14:60,353,420...60,404,952
Ensembl chr14:60,353,474...60,408,828
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GON7
GON7 subunit of KEOPS complex
ISO
ClinVar Annotator: match by term: Galloway-Mowat syndrome 9
OMIM ClinVar
PMID:25741868 PMID:31481669
NCBI chr 7:114,586,306...114,590,804
Ensembl chr 7:114,585,474...114,590,787
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BAP1
BRCA1 associated protein 1
ISO
ClinVar Annotator: match by term: Ganglioglioma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr13:34,544,570...34,553,538
Ensembl chr13:34,544,581...34,553,483
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BRAF
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Childhood ganglioglioma
ClinVar
PMID:19363522 PMID:19794125 PMID:21190184 PMID:21343559 PMID:21716161 PMID:22535154 PMID:24033266 More...
NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553
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NF1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Ganglioglioma
ClinVar
PMID:7607663 PMID:10712197 PMID:15523642 PMID:16835897 PMID:16944272 PMID:18546366 PMID:19738042 PMID:23913538 PMID:24357598 PMID:25325900 PMID:25741868 PMID:26467025 PMID:27980226 PMID:28492532 PMID:31371350 PMID:34427956 PMID:34988040 More...
NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969
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ITPR1
inositol 1,4,5-trisphosphate receptor type 1
ISO
ClinVar Annotator: match by term: Aniridia-cerebellar ataxia-intellectual disability syndrome | ClinVar Annotator: match by term: Gillespie syndrome
OMIM ClinVar
PMID:7952360 PMID:9536098 PMID:10664581 PMID:17558851 PMID:17576681 PMID:21465660 PMID:24091540 PMID:25741868 PMID:25794864 PMID:26467025 PMID:27062503 PMID:27108797 PMID:27108798 PMID:27391121 PMID:27572814 PMID:27862915 PMID:28492532 PMID:28620721 PMID:28659154 PMID:28826917 PMID:29169895 PMID:29482223 PMID:29925855 PMID:30564305 PMID:32499604 PMID:33948933 PMID:37164302 More...
NCBI chr13:61,068,131...61,398,918
Ensembl chr13:61,068,126...61,398,912
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PAX6
paired box 6
ISO
ClinVar Annotator: match by term: Gillespie syndrome
ClinVar
PMID:25741868 PMID:26899008
NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,978,287...29,001,200
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RNF216
ring finger protein 216
ISO
ClinVar Annotator: match by term: Cerebellar ataxia and hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome
OMIM ClinVar
PMID:11932290 PMID:23656588 PMID:25741868 PMID:25841028 PMID:28492532 PMID:32982993 More...
NCBI chr 3:4,158,447...4,329,458
Ensembl chr 3:4,158,450...4,329,378
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POLR3A
RNA polymerase III subunit A
ISO
ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome
ClinVar
PMID:21855841 PMID:22855961 PMID:25741868 PMID:27029625 PMID:28447407 PMID:28459997 PMID:28492532 PMID:29691679 PMID:30323018 PMID:30847471 PMID:31637490 PMID:32373668 PMID:32597037 PMID:33491183 PMID:36344503 More...
NCBI chr14:80,410,143...80,471,740
Ensembl chr14:80,413,099...80,471,697
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POLR3B
RNA polymerase III subunit B
ISO
ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18851904 PMID:22036171 PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25133958 PMID:25339210 PMID:25741868 PMID:26011300 PMID:26045207 PMID:26204956 PMID:26478204 PMID:27029625 PMID:27512013 PMID:28492532 PMID:28589944 PMID:29141312 PMID:30548255 PMID:31221184 PMID:31969655 PMID:32180488 PMID:32319736 PMID:32342562 PMID:32345981 PMID:32870266 PMID:33726816 PMID:34440436 PMID:35316923 More...
NCBI chr 5:13,805,157...13,926,733
Ensembl chr 5:13,804,930...13,926,604
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SLC2A10
solute carrier family 2 member 10
ISO
ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome
ClinVar
PMID:24033266 PMID:25326637 PMID:25741868 PMID:25944730 PMID:28492532
NCBI chr17:48,824,054...48,842,811
Ensembl chr17:48,824,414...48,843,201
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ACO2
aconitase 2
ISO
ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:22405087 PMID:24088041 PMID:25351951 PMID:25741868 PMID:26992325 PMID:28492532 PMID:28545339 PMID:28559085 PMID:29564393 PMID:29577077 PMID:30689204 PMID:31130284 PMID:32214227 PMID:32449285 PMID:32483926 PMID:32519519 PMID:34056600 PMID:34234304 More...
NCBI chr 5:7,014,383...7,071,023
Ensembl chr 5:7,008,719...7,071,025
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POLR3H
RNA polymerase III subunit H
ISO
ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration
ClinVar
PMID:24088041 PMID:25351951 PMID:25741868 PMID:26992325 PMID:28492532 PMID:29564393 PMID:30689204 PMID:31130284 PMID:32519519 More...
NCBI chr 5:6,999,690...7,014,471
Ensembl chr 5:6,997,939...7,014,421
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SMN1
survival of motor neuron 1, telomeric
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy, type II
OMIM ClinVar
PMID:9158159 PMID:9590291 PMID:9818944 PMID:9837824 PMID:10205265 PMID:10369311 PMID:11313744 PMID:11704667 PMID:12515823 PMID:14715275 PMID:15580564 PMID:17475491 PMID:17895963 PMID:18492800 PMID:19050931 PMID:20057317 PMID:21118896 PMID:21209906 PMID:21673580 PMID:21811307 PMID:21920940 PMID:22750651 PMID:22813737 PMID:22975760 PMID:23112048 PMID:24498607 PMID:24844453 PMID:25144193 PMID:25716911 PMID:25741868 PMID:26467025 PMID:27425821 PMID:33062891 PMID:33090613 PMID:33892995 More...
NCBI chr16:47,738,776...47,777,381
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ITM2B
integral membrane protein 2B
ISO
ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica
OMIM ClinVar
PMID:5457846 PMID:10781099 PMID:25741868 PMID:28492532 PMID:31719132
NCBI chr11:19,349,088...19,377,931
Ensembl chr11:19,349,134...19,377,917
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ALS2
alsin Rho guanine nucleotide exchange factor ALS2
ISO
ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis
ClinVar
PMID:2328408 PMID:7920663 PMID:9536098 PMID:11586297 PMID:11586298 PMID:14676054 PMID:16240357 PMID:16321985 PMID:17576681 PMID:18852346 PMID:20077034 PMID:23881933 PMID:24315819 PMID:24562058 PMID:25174650 PMID:25588603 PMID:25741868 PMID:25741916 PMID:26467025 PMID:27159321 PMID:27790088 PMID:28430856 PMID:28492532 PMID:28600779 PMID:28832565 PMID:29525178 PMID:29605155 PMID:30054184 PMID:30224357 PMID:31182772 PMID:32214227 PMID:32397312 PMID:32579787 PMID:33770234 PMID:34670123 More...
NCBI chr15:105,328,717...105,401,152
Ensembl chr15:105,328,719...105,401,093
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FUS
FUS RNA binding protein
ISO
ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis
ClinVar
PMID:19251627 PMID:19450904 PMID:20579074 PMID:20606625 PMID:20668261 PMID:21280085 PMID:21604077 PMID:21881207 PMID:21907581 PMID:21949354 PMID:22980027 PMID:23056579 PMID:23085990 PMID:23881933 PMID:24899262 PMID:25173930 PMID:25625564 PMID:25741868 PMID:26251528 PMID:26467025 PMID:27123482 PMID:28492532 More...
NCBI chr 3:17,314,936...17,326,663
Ensembl chr 3:17,314,332...17,326,637
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PLEKHG5
pleckstrin homology and RhoGEF domain containing G5
ISO
ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis
ClinVar
PMID:25741868
NCBI chr 6:67,316,818...67,373,787
Ensembl chr 6:67,321,534...67,362,838
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SYNE1
spectrin repeat containing nuclear envelope protein 1
ISO
ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis
ClinVar
PMID:25741868
NCBI chr 1:13,715,644...14,201,711
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TRPM7
transient receptor potential cation channel subfamily M member 7
ISO
ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis
ClinVar
PMID:16051700 PMID:19405049 PMID:25741868
NCBI chr 1:121,146,093...121,250,227
Ensembl chr 1:121,146,117...121,250,224
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VRK1
VRK serine/threonine kinase 1
ISO
ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis
ClinVar
PMID:25741868 PMID:26583493 PMID:26633545 PMID:28492532 PMID:31167812 PMID:31527692 More...
NCBI chr 7:117,942,929...118,025,991
Ensembl chr 7:117,942,973...118,028,923
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ALS2
alsin Rho guanine nucleotide exchange factor ALS2
ISO
ClinVar Annotator: match by term: ALS2-Related Spectrum Disorders | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 2
OMIM ClinVar
PMID:2328408 PMID:7920663 PMID:9536098 PMID:11586297 PMID:11586298 PMID:14676054 PMID:16240357 PMID:16321985 PMID:17576681 PMID:18852346 PMID:20077034 PMID:23881933 PMID:24315819 PMID:24562058 PMID:25174650 PMID:25558820 PMID:25588603 PMID:25741868 PMID:25741916 PMID:26257771 PMID:26467025 PMID:27159321 PMID:27790088 PMID:28430856 PMID:28492532 PMID:28600779 PMID:28832565 PMID:29525178 PMID:29605155 PMID:30054184 PMID:30224357 PMID:31182772 PMID:32214227 PMID:32397312 PMID:32579787 PMID:33770234 PMID:34670123 More...
NCBI chr15:105,328,717...105,401,152
Ensembl chr15:105,328,719...105,401,093
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SETX
senataxin
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 4
OMIM ClinVar
PMID:9467005 PMID:9497266 PMID:9536098 PMID:14770181 PMID:15106121 PMID:16199547 PMID:16644229 PMID:17096168 PMID:17159128 PMID:17576681 PMID:18058631 PMID:19569000 PMID:19696032 PMID:19727998 PMID:19744353 PMID:20540686 PMID:20981092 PMID:21190393 PMID:21438761 PMID:21494555 PMID:21576111 PMID:22088787 PMID:22995991 PMID:23111195 PMID:23129421 PMID:23566282 PMID:23757202 PMID:23881933 PMID:23941260 PMID:24030952 PMID:24033266 PMID:24105744 PMID:24108619 PMID:24244371 PMID:24760770 PMID:24814856 PMID:25025039 PMID:25116135 PMID:25174650 PMID:25182519 PMID:25299611 PMID:25353622 PMID:25382069 PMID:25640679 PMID:25741868 PMID:25802885 PMID:25927548 PMID:26467025 PMID:26601740 PMID:26752306 PMID:27013921 PMID:27165006 PMID:27790088 PMID:28130640 PMID:28492532 PMID:28642336 PMID:28708278 PMID:28832565 PMID:29170628 PMID:29411640 PMID:29650794 PMID:30198223 PMID:30220148 PMID:30564185 PMID:30642639 PMID:31325016 PMID:31429931 PMID:31432357 PMID:31656689 PMID:31692161 PMID:31957062 PMID:32028661 PMID:32166880 PMID:32186211 PMID:32253937 PMID:32397312 PMID:32409511 PMID:32729724 PMID:33098801 PMID:33770234 PMID:33956305 PMID:34565360 PMID:35426160 More...
NCBI chr 1:272,093,449...272,170,857
Ensembl chr 1:272,095,358...272,170,747
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SPG11
SPG11 vesicle trafficking associated, spatacsin
ISO
ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 5
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17322883 PMID:17576681 PMID:17717710 PMID:18067136 PMID:18079167 PMID:18332254 PMID:18337587 PMID:18408091 PMID:18717728 PMID:18835492 PMID:19105190 PMID:19194956 PMID:19196735 PMID:19438933 PMID:20110243 PMID:20301389 PMID:20571989 PMID:22154821 PMID:22175763 PMID:22237444 PMID:22696581 PMID:23221952 PMID:23443022 PMID:23733235 PMID:23812641 PMID:23881933 PMID:24451228 PMID:24731568 PMID:24833714 PMID:25174650 PMID:25299611 PMID:25326635 PMID:25525159 PMID:25588603 PMID:25741868 PMID:26467025 PMID:26556829 PMID:26742954 PMID:27016404 PMID:27066562 PMID:27071356 PMID:27084228 PMID:27180005 PMID:27217339 PMID:27790088 PMID:27900367 PMID:27957547 PMID:28160950 PMID:28492532 PMID:28554332 PMID:28832565 PMID:28991695 PMID:29246610 PMID:29525178 PMID:29691679 PMID:29908077 PMID:29946510 PMID:29980238 PMID:30363882 PMID:30373780 PMID:31289639 PMID:31589614 PMID:31692161 PMID:32005694 PMID:32166880 PMID:32293029 PMID:32397312 PMID:32483926 PMID:32579787 PMID:32671691 PMID:32987860 PMID:32989326 PMID:33397523 PMID:33414559 PMID:33589474 PMID:33624863 PMID:34153142 PMID:35752680 PMID:36028943 More...
NCBI chr 1:126,890,464...126,998,014
Ensembl chr 1:126,902,186...127,003,397 Ensembl chr 1:126,902,186...127,003,397
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TRPV4
transient receptor potential cation channel subfamily V member 4
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 5
ClinVar
PMID:28492532
NCBI chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,578
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SPTLC1
serine palmitoyltransferase long chain base subunit 1
ISO
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 27, juvenile
OMIM ClinVar
PMID:19651702 PMID:21618344 PMID:23454272 PMID:24247255 PMID:25741868 PMID:26681808 PMID:28492532 PMID:34059824 PMID:34459874 PMID:36204986 More...
NCBI chr14:3,081,964...3,138,113
Ensembl chr14:3,081,972...3,138,103
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SMN1
survival of motor neuron 1, telomeric
ISO
ClinVar Annotator: match by term: Kugelberg-Welander disease
OMIM ClinVar
PMID:9158159 PMID:9199562 PMID:9590291 PMID:9668169 PMID:9818944 PMID:9837824 PMID:10205265 PMID:10339583 PMID:11313744 PMID:11704667 PMID:12515823 PMID:14715275 PMID:15580564 PMID:17475491 PMID:17635841 PMID:17761649 PMID:17895963 PMID:18492800 PMID:19050931 PMID:20057317 PMID:20301526 PMID:21082361 PMID:21118896 PMID:21209906 PMID:21673580 PMID:21920940 PMID:22323744 PMID:22813737 PMID:23022347 PMID:23073312 PMID:23112048 PMID:24844453 PMID:25144193 PMID:25716911 PMID:25741868 PMID:26467025 PMID:27425821 PMID:33062891 PMID:33090613 PMID:33892995 PMID:36138164 More...
NCBI chr16:47,738,776...47,777,381
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AR
androgen receptor
treatment
ISO
ClinVar Annotator: match by term: Bulbospinal neuronopathy X-linked recessive | ClinVar Annotator: match by term: Kennedy disease
RGD ClinVar OMIM
PMID:2594783 PMID:9544375 PMID:10852459 PMID:16804045 PMID:17970778 PMID:22403669 PMID:22412043 PMID:23637914 PMID:25299611 PMID:25326637 PMID:25500996 PMID:25740850 PMID:25741868 PMID:26688387 PMID:26806084 PMID:26942099 PMID:27583472 PMID:27899157 PMID:28492532 PMID:28611373 PMID:28624954 PMID:28659371 PMID:30599484 PMID:31871297 PMID:36572623 More...
RGD:11576229
NCBI chr X:53,609,113...53,806,778
Ensembl chr X:53,609,176...53,800,677
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GDNF
glial cell derived neurotrophic factor
ISO
mRNA:increased expression:skeletal muscle
RGD
PMID:10447463
RGD:6218978
NCBI chr16:22,936,602...22,965,929
Ensembl chr16:22,936,604...22,966,536
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ATXN3
ataxin 3
treatment susceptibility
ISO
ClinVar Annotator: match by term: Azorean disease
RGD OMIM ClinVar
PMID:7874163 PMID:20308049 PMID:25741868
RGD:11557997 RGD:1599419
NCBI chr 7:113,611,566...113,645,835
Ensembl chr 7:113,608,783...113,645,841
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BECN1
beclin 1
ISO
protein:decreased expression:fibroblast protein:decreased expression:brain
RGD
PMID:21478185
RGD:6483072
NCBI chr12:20,041,914...20,054,249
Ensembl chr12:20,041,956...20,054,373
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S100B
S100 calcium binding protein B
ISO
protein:increased expression:serum
RGD
PMID:21743141
RGD:5508762
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SLC18A2
solute carrier family 18 member A2
ISO
protein:decreased expression:substantia nigra (rat)
RGD
PMID:18385100
RGD:5131159
NCBI chr14:127,357,605...127,394,242
Ensembl chr14:127,357,555...127,396,533
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TH
tyrosine hydroxylase
ISO
protein:decreased expression:substantia nigra (rat)
RGD
PMID:18385100
RGD:5131159
NCBI chr 2:1,499,628...1,506,180
Ensembl chr 2:1,499,620...1,506,170
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SIL1
SIL1 nucleotide exchange factor
ISO
ClinVar Annotator: match by term: Marinesco-Sjogren Syndrome | ClinVar Annotator: match by term: Marinesco-Sjogren-Garland Syndrome | ClinVar Annotator: match by term: Marinesco-Sjögren syndrome
ClinVar
PMID:9536098 PMID:10665502 PMID:12692552 PMID:16199547 PMID:16282977 PMID:16282978 PMID:17026626 PMID:17309654 PMID:17576681 PMID:18285827 PMID:19471582 PMID:20111056 PMID:21873089 PMID:22995991 PMID:23062754 PMID:23829326 PMID:24176978 PMID:24473200 PMID:24631270 PMID:24755310 PMID:25741868 PMID:25741915 PMID:26467025 PMID:26733775 PMID:28492532 PMID:31130284 PMID:31258504 PMID:32502767 PMID:32552793 PMID:33250842 More...
NCBI chr 2:140,884,170...141,118,201
Ensembl chr 2:140,878,070...141,118,059
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MILR1
mast cell immunoglobulin like receptor 1
ISO
ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)
ClinVar
PMID:25741868 PMID:28492532 PMID:31778857
NCBI chr12:14,612,177...14,637,946
Ensembl chr12:14,612,183...14,636,811
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POLG2
DNA polymerase gamma 2, accessory subunit
ISO
ClinVar Annotator: match by term: Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:31778857
NCBI chr12:14,582,075...14,601,576
Ensembl chr12:14,582,544...14,601,570
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PITRM1
pitrilysin metallopeptidase 1
ISO
ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia
ClinVar
PMID:29764912
NCBI chr10:66,996,919...67,021,692
Ensembl chr10:66,996,954...67,047,235
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POLG
DNA polymerase gamma, catalytic subunit
ISO
ClinVar Annotator: match by term: mitochondrial hepatopathy
ClinVar
PMID:25741868
NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844
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TWNK
twinkle mtDNA helicase
ISO
ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | ClinVar Annotator: match by term: mitochondrial hepatopathy
OMIM ClinVar
PMID:11431692 PMID:12707443 PMID:12872260 PMID:16135556 PMID:17614277 PMID:17722119 PMID:17921179 PMID:18575922 PMID:18973250 PMID:19084593 PMID:20479361 PMID:20659899 PMID:21689831 PMID:22353293 PMID:22928142 PMID:24018892 PMID:24086434 PMID:25355836 PMID:25741868 PMID:25741909 PMID:26206283 PMID:26467025 PMID:26970254 PMID:27551684 PMID:27650058 PMID:28178980 PMID:28454995 PMID:28492532 PMID:28776642 PMID:28812649 PMID:29458409 PMID:30496414 PMID:30770810 PMID:30799093 PMID:31055809 PMID:31852434 PMID:32619254 PMID:33095980 PMID:33486010 PMID:35011763 PMID:35286480 PMID:35982159 PMID:36099812 More...
NCBI chr14:112,068,463...112,076,169
Ensembl chr14:112,069,925...112,075,792
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ARPP21
cAMP regulated phosphoprotein 21
ISO
ClinVar Annotator: match by term: Monomelic amyotrophy
ClinVar
NCBI chr13:20,955,414...21,088,424
Ensembl chr13:20,934,846...21,088,420
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RYR3
ryanodine receptor 3
ISO
ClinVar Annotator: match by term: Monomelic amyotrophy
ClinVar
PMID:28492532
NCBI chr 7:80,640,030...81,208,576
Ensembl chr 7:80,640,123...81,208,491
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SLIT1
slit guidance ligand 1
ISO
ClinVar Annotator: match by term: Monomelic amyotrophy
ClinVar
NCBI chr14:108,446,003...108,624,508
Ensembl chr14:108,446,004...108,624,302
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CACNA1A
calcium voltage-gated channel subunit alpha1 A
ISO
ClinVar Annotator: match by term: Myelitis
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 2:65,491,784...65,871,068
Ensembl chr 2:65,514,509...65,871,182
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ALDH1A2
aldehyde dehydrogenase 1 family member A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16237707
NCBI chr 1:113,932,722...114,037,059
Ensembl chr 1:113,932,739...114,037,046
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MTHFR
methylenetetrahydrofolate reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16602021
NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,637...71,881,820
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SLC2A1
solute carrier family 2 member 1
ISO
DNA:SNPs, haplotype: :rs710218, rs2229682 (human) DNA:deletion:intron:rs35565219 (human)
RGD
PMID:21135204 PMID:23427181
RGD:11070819 RGD:12879498
NCBI chr 6:168,535,398...168,561,170
Ensembl chr 6:168,535,440...168,560,867
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SOD1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22972774
NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729
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SOD2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22972774
NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560
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CAPRIN1
cell cycle associated protein 1
ISO
ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline
OMIM ClinVar
PMID:25741868 PMID:36136249
NCBI chr 2:26,830,987...26,875,425
Ensembl chr 2:26,830,267...26,875,357
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GEMIN5
gem nuclear organelle associated protein 5
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:33963192
NCBI chr16:68,279,221...68,330,029
Ensembl chr16:68,279,239...68,326,850
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AGTPBP1
ATP/GTP binding carboxypeptidase 1
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
ClinVar
PMID:25741868 PMID:30420557
NCBI chr10:29,440,150...29,590,457
Ensembl chr10:29,440,145...29,590,454
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BRAT1
BRCA1 associated ATM activator 1
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
OMIM ClinVar
PMID:16452482 PMID:22279524 PMID:25500575 PMID:25741868 PMID:26467025 PMID:26483087 PMID:26494257 PMID:26535877 PMID:26947546 PMID:26964041 PMID:27282546 PMID:27282648 PMID:27480663 PMID:28492532 PMID:28635423 PMID:28752061 PMID:29375859 PMID:29390993 PMID:30552426 PMID:31345272 PMID:32964447 PMID:34747546 PMID:35360849 More...
NCBI chr 3:1,905,648...1,918,229
Ensembl chr 3:1,905,656...1,918,227
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DOHH
deoxyhypusine hydroxylase
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment
OMIM ClinVar
PMID:25741868 PMID:35858628
NCBI chr 2:75,164,536...75,173,443
Ensembl chr 2:75,164,787...75,173,439
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NF1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Spinal neurofibroma
ClinVar
NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969
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DES
desmin
ISO
ClinVar Annotator: match by term: Neurogenic scapuloperoneal syndrome, Kaeser type | ClinVar Annotator: match by term: Scapuloperoneal syndrome, neurogenic type, of Kaeser
OMIM ClinVar
PMID:5828910 PMID:9697706 PMID:10717012 PMID:10905661 PMID:14326018 PMID:14724127 PMID:14991347 PMID:15477095 PMID:15800015 PMID:16199547 PMID:16217025 PMID:16519886 PMID:16828798 PMID:16865695 PMID:17221859 PMID:17325244 PMID:17439987 PMID:17626518 PMID:18414213 PMID:18653338 PMID:19181099 PMID:20448486 PMID:20474083 PMID:20696008 PMID:20718792 PMID:20981092 PMID:21262226 PMID:21520333 PMID:21842594 PMID:22153487 PMID:22215463 PMID:22337857 PMID:23143191 PMID:23168288 PMID:23299917 PMID:23396983 PMID:23575897 PMID:23806086 PMID:23861362 PMID:24033266 PMID:24088041 PMID:24503780 PMID:25214167 PMID:25333361 PMID:25394388 PMID:25617006 PMID:25736269 PMID:25741868 PMID:25928149 PMID:26265630 PMID:26272908 PMID:26467025 PMID:26724190 PMID:27393313 PMID:27532257 PMID:27697855 PMID:27896284 PMID:27930701 PMID:28074886 PMID:28171858 PMID:28341588 PMID:28416588 PMID:28492532 PMID:28588093 PMID:28798025 PMID:29247119 PMID:29382405 PMID:29447731 PMID:29915097 PMID:29926427 PMID:29997562 PMID:30190612 PMID:30531895 PMID:30615648 PMID:30677492 PMID:30755392 PMID:30764827 PMID:30847666 PMID:31953240 PMID:32093415 PMID:32142595 PMID:32150461 PMID:32235386 PMID:32268277 PMID:32397162 PMID:32403337 PMID:32528171 PMID:32880476 PMID:33652119 PMID:34011823 PMID:34426522 PMID:34495297 PMID:34935411 PMID:35626289 PMID:36264615 PMID:36497166 More...
NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,642...121,435,423
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AQP4
aquaporin 4
disease_progression
ISO
associated withHiccup; DNA:polymorphism:promoter:-1003A>G(human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16087714 PMID:18420727 PMID:18509235 PMID:20047900 PMID:22271321 PMID:23116879 PMID:23890015 PMID:23995423 PMID:24070676 More...
RGD:5148024 RGD:5148032 RGD:8695993 RGD:8696026 RGD:8696032 RGD:8696033 RGD:8696034
NCBI chr 6:111,407,632...111,422,169
Ensembl chr 6:111,407,639...111,422,109
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CD59
CD59 molecule
severity
ISO
RGD
PMID:28212662
RGD:13792592
NCBI chr 2:27,186,587...27,207,303
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GFAP
glial fibrillary acidic protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18509235
NCBI chr12:18,456,268...18,466,594
Ensembl chr12:18,456,263...18,466,592
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IL21
interleukin 21
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:23041403
RGD:127285589
NCBI chr 8:101,532,742...101,540,712
Ensembl chr 8:101,532,531...101,541,713
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IL6
interleukin 6
severity
ISO
protein:increased expression:serum, cerebral spinal fluid:
RGD
PMID:20128675
RGD:7829722
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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MBP
myelin basic protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18509235
NCBI chr 1:147,649,516...147,685,289
Ensembl chr 1:147,590,865...147,685,290
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MMP9
matrix metallopeptidase 9
ISO
protein:increased expression:serum
RGD
PMID:21621856
RGD:8547883
NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
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NEFH
neurofilament heavy chain
ISO
protein:increased expression:serum:
RGD
PMID:23316360
RGD:27226805
NCBI chr14:46,559,698...46,568,686
Ensembl chr14:46,559,860...46,568,088
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NEFL
neurofilament light chain
ISO
protein:increased expression:serum (human)
RGD
PMID:33317883
RGD:127285024
NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,991,331...8,997,112
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S100B
S100 calcium binding protein B
ISO
RGD
PMID:21371524
RGD:5508767
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AADACL3
arylacetamide deacetylase like 3
ISO
ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities
ClinVar
PMID:25741868
NCBI chr 6:72,680,294...72,686,004
Ensembl chr 6:72,680,291...72,687,005
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AADACL4
arylacetamide deacetylase like 4
ISO
ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities
ClinVar
PMID:25741868
NCBI chr 6:72,635,281...72,650,538
Ensembl chr 6:72,635,281...72,650,729
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CAMTA1
calmodulin binding transcription activator 1
ISO
ClinVar Annotator: match by term: CAMTA1-related condition | ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities
OMIM ClinVar
PMID:22693284 PMID:24738973 PMID:25326637 PMID:25741868 PMID:28492532 PMID:28708303 PMID:29389947 PMID:30838254 PMID:31957018 PMID:32157189 PMID:33131045 PMID:33677721 More...
NCBI chr 6:67,605,863...68,471,922
Ensembl chr 6:67,605,790...68,471,920
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CFAP107
cilia and flagella associated protein 107
ISO
ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities
ClinVar
PMID:25741868
NCBI chr 6:72,705,426...72,717,408
Ensembl chr 6:72,705,399...72,718,232
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DHRS3
dehydrogenase/reductase 3
ISO
ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities
ClinVar
PMID:25741868
NCBI chr 6:72,556,234...72,599,233
Ensembl chr 6:72,556,236...72,598,815
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MFN2
mitofusin 2
ISO
ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities
ClinVar
PMID:25741868
NCBI chr 6:72,026,512...72,056,439
Ensembl chr 6:72,028,499...72,056,438
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MIIP
migration and invasion inhibitory protein
ISO
ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities
ClinVar
PMID:25741868
NCBI chr 6:72,064,634...72,074,981
Ensembl chr 6:72,064,662...72,076,275
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NID1
nidogen 1
ISO
ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities
ClinVar
PMID:25741868
NCBI chr14:55,239,327...55,346,948
Ensembl chr14:55,239,577...55,390,782
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PLOD1
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
ISO
ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities
ClinVar
PMID:25741868
NCBI chr 6:71,987,938...72,019,712
Ensembl chr 6:71,988,459...72,021,804
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POU4F1
POU class 4 homeobox 1
ISO
ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities
ClinVar
PMID:25741868
NCBI chr11:50,729,746...50,732,626
Ensembl chr11:50,730,428...50,732,539
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PRDM16
PR/SET domain 16
ISO
ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities
ClinVar
PMID:25741868
NCBI chr 6:64,704,181...65,012,580
Ensembl chr 6:64,704,920...65,012,570
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SLC9A1
solute carrier family 9 member A1
ISO
ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities
ClinVar
PMID:25741868
NCBI chr 6:84,373,921...84,426,447
Ensembl chr 6:84,372,649...84,426,997
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SMYD3
SET and MYND domain containing 3
ISO
ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities
ClinVar
PMID:25741868
NCBI chr10:18,267,598...19,019,520
Ensembl chr10:18,267,189...19,019,642
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TNFRSF1B
TNF receptor superfamily member 1B
ISO
ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities
ClinVar
PMID:25741868
NCBI chr 6:72,195,420...72,231,146
Ensembl chr 6:72,195,435...72,231,147
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TNFRSF8
TNF receptor superfamily member 8
ISO
ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities
ClinVar
PMID:25741868
NCBI chr 6:72,103,309...72,174,882
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VPS13D
vacuolar protein sorting 13 homolog D
ISO
ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities
ClinVar
PMID:25741868
NCBI chr 6:72,256,865...72,514,256
Ensembl chr 6:72,256,828...72,510,058
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APTX
aprataxin
ISO
DNA:missense mutations:cds:725G>A,457A>G(human)
RGD
PMID:21465257
RGD:10054301
NCBI chr10:33,470,089...33,495,584
Ensembl chr10:33,445,148...33,543,710
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CFAP96
cilia and flagella associated protein 96
ISO
ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia
ClinVar
PMID:25741868 PMID:25741905 PMID:28492532 PMID:33473208
NCBI chr15:46,470,680...46,612,173
Ensembl chr15:46,470,765...46,490,006
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TSEN54
tRNA splicing endonuclease subunit 54
ISO
ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia
ClinVar
PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 PMID:20803644 PMID:20952379 PMID:20956791 PMID:21368912 PMID:21468723 PMID:21609947 PMID:23177318 PMID:23307886 PMID:24033266 PMID:24886362 PMID:25326635 PMID:25741868 PMID:26701950 PMID:27430971 PMID:27570394 PMID:28492532 PMID:29410950 More...
NCBI chr12:5,847,170...5,855,791
Ensembl chr12:5,847,187...5,854,882
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UFSP2
UFM1 specific peptidase 2
ISO
ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia
ClinVar
PMID:25741868 PMID:25741905 PMID:28492532 PMID:33473208
NCBI chr15:46,448,918...46,470,616
Ensembl chr15:46,448,904...46,470,572
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ATXN1
ataxin 1
ISO
ClinVar Annotator: match by term: Spinocerebellar atrophy 1
ClinVar
PMID:25741868
NCBI chr 7:12,299,938...12,730,850
Ensembl chr 7:12,301,013...12,457,450
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FLCN
folliculin
ISO
ClinVar Annotator: match by term: Pilocytic astrocytoma
ClinVar
PMID:15852235 PMID:16199547 PMID:25741868 PMID:28492532
NCBI chr12:61,029,186...61,045,400
Ensembl chr12:61,031,157...61,045,392
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KRAS
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic
ClinVar
PMID:12460918 PMID:15696205 PMID:16247081 PMID:16361624 PMID:16618717 PMID:17384584 PMID:18316791 PMID:18794081 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:20921462 PMID:20921465 PMID:21228335 PMID:23406027 PMID:24033266 PMID:25157968 More...
NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358
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NF1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Pilocytic astrocytoma
ClinVar
PMID:10712197 PMID:23913538 PMID:25741868 PMID:28492532
NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969
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PALB2
partner and localizer of BRCA2
ISO
ClinVar Annotator: match by term: Pilocytic astrocytoma
ClinVar
PMID:25741868 PMID:26283626 PMID:28492532 PMID:28664506 PMID:32546565
NCBI chr 3:22,586,881...22,612,837
Ensembl chr 3:22,586,856...22,612,834
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RET
ret proto-oncogene
ISO
ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,412
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SDHA
succinate dehydrogenase complex flavoprotein subunit A
ISO
ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic
ClinVar
PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:22974104 PMID:23174939 PMID:23252569 PMID:23612575 PMID:23666964 PMID:23730622 PMID:24781757 PMID:25494863 PMID:25525159 PMID:25741868 PMID:26113600 PMID:26173966 PMID:26259135 PMID:26269449 PMID:26467025 PMID:26490314 PMID:26689913 PMID:27895137 PMID:28384794 PMID:28492532 PMID:28500238 PMID:28819017 PMID:29177515 PMID:29625052 PMID:29872718 PMID:29978154 PMID:29978187 PMID:30068732 PMID:30877234 PMID:31368675 PMID:31589614 PMID:31827275 PMID:32581362 PMID:32782288 PMID:33077847 PMID:33372952 PMID:33674644 PMID:33960148 PMID:35059314 PMID:35441217 More...
NCBI chr16:79,838,442...79,862,956
Ensembl chr16:79,834,044...79,862,524
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FGFR1
fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Pilomyxoid astrocytoma
ClinVar
PMID:25705862 PMID:25741868 PMID:26619011 PMID:26942290 PMID:28492532 PMID:33448156 More...
NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724
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AASS
aminoadipate-semialdehyde synthase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:24,938,366...25,039,197
Ensembl chr18:24,974,754...25,039,195
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ABCB1
ATP-binding cassette, sub-family B (MDR/TAP), member 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:93,049,955...93,146,469
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ABCB4
ATP binding cassette subfamily B member 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:93,171,371...93,262,124
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ABCB5
ATP binding cassette subfamily B member 5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:89,620,783...89,751,876
Ensembl chr 9:89,632,204...89,738,606
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ABHD11
abhydrolase domain containing 11
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:11,000,991...11,003,789
Ensembl chr 3:11,000,998...11,003,795
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ACHE
acetylcholinesterase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,732,451...8,738,274
Ensembl chr 3:8,732,441...8,738,605
G
ADAM22
ADAM metallopeptidase domain 22
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:68,253,023...68,490,327
Ensembl chr 9:68,253,065...68,487,619
G
ADCK2
aarF domain containing kinase 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:9,153,832...9,173,009
Ensembl chr18:9,153,839...9,173,007
G
ADCY1
adenylate cyclase 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:50,043,572...50,143,549
Ensembl chr18:50,051,364...50,143,628
G
ADCYAP1R1
ADCYAP receptor type I
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:41,915,180...41,972,327
Ensembl chr18:41,917,428...41,972,301
G
AEBP1
AE binding protein 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:51,046,895...51,056,789
Ensembl chr18:51,046,899...51,056,698
G
AGBL3
AGBL carboxypeptidase 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:14,163,354...14,265,504
Ensembl chr18:14,164,658...14,262,611
G
AGFG2
ArfGAP with FG repeats 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,468,049...8,490,849
Ensembl chr 3:8,468,044...8,490,831
G
AGMO
alkylglycerol monooxygenase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:84,551,874...84,931,146
Ensembl chr 9:84,551,889...84,894,843
G
AGR2
anterior gradient 2, protein disulphide isomerase family member
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:86,042,070...86,053,893
Ensembl chr 9:86,041,369...86,053,857
G
AHCYL2
adenosylhomocysteinase like 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:19,260,226...19,441,839
Ensembl chr18:19,260,228...19,441,883
G
AHR
aryl hydrocarbon receptor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:86,511,866...86,555,950
Ensembl chr 9:86,511,369...86,555,943
G
AKAP9
A-kinase anchoring protein 9
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:71,895,615...72,054,898
Ensembl chr 9:71,895,635...72,054,897
G
AKR1B1
aldo-keto reductase family 1 member B
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:14,593,516...14,752,316
Ensembl chr18:14,684,036...14,752,310
G
AKR1D1
aldo-keto reductase family 1 member D1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:11,416,065...11,532,846
Ensembl chr18:11,416,068...11,531,726
G
ALKBH4
alkB homolog 4, lysine demethylase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:9,795,993...9,806,230
Ensembl chr 3:9,798,641...9,806,215
G
AMPH
amphiphysin
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:108,800,718...108,971,575
Ensembl chr 9:108,799,793...108,971,660
G
ANKIB1
ankyrin repeat and IBR domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:72,184,805...72,328,765
Ensembl chr 9:72,184,815...72,328,763
G
ANKMY2
ankyrin repeat and MYND domain containing 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:85,850,646...85,887,450
Ensembl chr 9:85,848,002...85,887,427
G
ANKRD7
ankyrin repeat domain 7
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:28,098,184...28,109,802
G
ANLN
anillin, actin binding protein
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:37,647,952...37,710,939
Ensembl chr18:37,647,961...37,708,575
G
AOAH
acyloxyacyl hydrolase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:37,416,875...37,599,934
Ensembl chr18:37,416,966...37,599,710
G
AP1S1
adaptor related protein complex 1 subunit sigma 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,880,993...8,887,806
Ensembl chr 3:8,881,107...8,887,566
G
AP4M1
adaptor related protein complex 4 subunit mu 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,013,701...8,017,701
Ensembl chr 3:8,013,747...8,017,700
G
AQP1
aquaporin 1 (Colton blood group)
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:42,063,482...42,076,741
Ensembl chr18:42,063,485...42,076,746
G
ARF5
ADP ribosylation factor 5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:20,695,706...20,698,635
Ensembl chr18:20,694,966...20,698,726
G
ARL4A
ADP ribosylation factor like GTPase 4A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:82,224,985...82,228,951
Ensembl chr 9:82,225,272...82,231,900
G
ARMC10
armadillo repeat containing 10
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:103,179,754...103,210,658
Ensembl chr 9:103,179,503...103,262,014
G
ARPC1A
actin related protein 2/3 complex subunit 1A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:6,296,257...6,324,526
Ensembl chr 3:6,296,278...6,324,524
G
ARPC1B
actin related protein 2/3 complex subunit 1B
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:6,329,737...6,342,641
Ensembl chr 3:6,220,939...6,342,637
G
ASB15
ankyrin repeat and SOCS box containing 15
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:23,826,025...23,881,794
Ensembl chr18:23,825,970...23,859,250
G
ASB4
ankyrin repeat and SOCS box containing 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:75,110,367...75,337,619
Ensembl chr 9:75,018,067...75,203,447
G
ASL
argininosuccinate lyase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:16,637,481...16,646,869
Ensembl chr 3:16,637,481...16,646,867
G
ASNS
asparagine synthetase (glutamine-hydrolyzing)
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:77,318,341...77,336,290
Ensembl chr 9:77,318,213...77,343,035
G
ASZ1
ankyrin repeat, SAM and basic leucine zipper domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:28,859,140...28,910,927
Ensembl chr18:28,859,112...28,910,934
G
ATP5MF
ATP synthase membrane subunit f
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:6,389,338...6,396,960
G
ATP6V0A4
ATPase H+ transporting V0 subunit a4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:10,868,208...10,966,801
Ensembl chr18:10,919,422...10,966,410
G
ATP6V1F
ATPase H+ transporting V1 subunit F
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:19,753,761...19,756,706
Ensembl chr18:19,753,506...19,756,648
G
ATXN7L1
ataxin 7 like 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:105,464,614...105,925,637
Ensembl chr 9:105,464,484...105,799,064
G
AUTS2
activator of transcription and developmental regulator AUTS2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:13,565,439...14,794,365
Ensembl chr 3:13,565,281...14,794,365
G
AVL9
AVL9 cell migration associated
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:40,663,728...40,739,115
Ensembl chr18:40,663,730...40,739,080
G
AZGP1
alpha-2-glycoprotein 1, zinc-binding
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:7,867,521...7,874,857
G
BAIAP2L1
BAR/IMD domain containing adaptor protein 2 like 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:5,472,305...5,567,926
Ensembl chr 3:5,472,315...5,567,876
G
BAZ1B
bromodomain adjacent to zinc finger domain 1B
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:10,761,461...10,843,918
Ensembl chr 3:10,761,499...10,843,840
G
BBS9
Bardet-Biedl syndrome 9
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:39,663,720...40,394,244
Ensembl chr18:39,950,356...40,393,992
G
BCAP29
B cell receptor associated protein 29
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:107,292,273...107,337,464
Ensembl chr 9:107,292,309...107,351,981
G
BCL7B
BAF chromatin remodeling complex subunit BCL7B
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:10,850,347...10,887,485
Ensembl chr 3:10,850,354...10,869,288
G
BET1
Bet1 golgi vesicular membrane trafficking protein
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:73,782,157...73,792,653
Ensembl chr 9:73,782,168...73,792,648
G
BHLHA15
basic helix-loop-helix family member a15
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:5,410,467...5,414,074
Ensembl chr 3:5,410,518...5,414,072
G
BLVRA
biliverdin reductase A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:51,131,576...51,185,493
Ensembl chr18:51,131,584...51,185,435
G
BMPER
BMP binding endothelial regulator
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:39,417,830...39,664,010
Ensembl chr18:39,412,838...39,663,592
G
BMT2
base methyltransferase of 25S rRNA 2 homolog
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:32,798,278...32,900,769
Ensembl chr18:32,798,290...32,900,764
G
BPGM
bisphosphoglycerate mutase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:14,555,919...14,593,321
Ensembl chr18:14,556,832...14,593,252
G
BRAF
B-Raf proto-oncogene, serine/threonine kinase
onset
ISO
DNA:mutation:cds:p.V600E(human) ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
RGD ClinVar
PMID:25346165 PMID:28299358
RGD:11567238
NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553
G
BRI3
brain protein I3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:5,463,609...5,471,398
Ensembl chr 3:5,463,675...5,471,391
G
BUD23
BUD23 rRNA methyltransferase and ribosome maturation factor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:10,960,037...10,973,084
Ensembl chr 3:10,960,092...10,973,082
G
BUD31
BUD31 homolog
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:6,355,249...6,361,211
Ensembl chr 3:6,355,244...6,361,207
G
BZW2
basic leucine zipper and W2 domains 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:85,887,801...85,947,414
Ensembl chr 9:85,886,158...85,947,410
G
C18H7orf25
chromosome 18 C7orf25 homolog
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:51,924,285...51,928,154
Ensembl chr18:51,924,280...51,928,145
G
C18H7orf57
chromosome 18 C7orf57 homolog
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:48,451,099...48,473,246
Ensembl chr18:48,451,103...48,473,226
G
CACNA2D1
calcium voltage-gated channel auxiliary subunit alpha2delta 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:97,781,057...98,265,925
Ensembl chr 9:97,781,090...98,266,969
G
CADPS2
calcium dependent secretion activator 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:24,372,547...24,867,287
Ensembl chr18:24,372,544...24,867,482
G
CALCR
calcitonin receptor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:73,279,874...73,403,516
Ensembl chr 9:73,279,879...73,403,436
G
CALD1
caldesmon 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:14,267,955...14,486,641
Ensembl chr18:14,267,959...14,486,726
G
CALU
calumenin
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:19,841,718...19,875,804
Ensembl chr18:19,841,719...19,875,786
G
CAMK2B
calcium/calmodulin dependent protein kinase II beta
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:50,862,225...50,956,263
Ensembl chr18:50,861,466...50,956,225
G
CAPZA2
capping actin protein of muscle Z-line subunit alpha 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:29,316,384...29,365,062
Ensembl chr18:29,310,759...29,365,143
G
CASD1
CAS1 domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:74,276,533...74,347,608
Ensembl chr 9:74,276,908...74,347,588
G
CASTOR2
cytosolic arginine sensor for mTORC1 subunit 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:11,956,289...12,039,913
Ensembl chr 3:11,956,300...12,039,978
G
CAV1
caveolin 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465
G
CAV2
caveolin 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:29,699,012...29,707,277
Ensembl chr18:29,699,020...29,707,277
G
CBLL1
Cbl proto-oncogene like 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:107,456,261...107,474,615
Ensembl chr 9:107,456,603...107,474,611
G
CBX3
chromobox 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:46,193,138...46,205,114
Ensembl chr18:46,193,140...46,204,714
G
CCDC126
coiled-coil domain containing 126
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:92,372,070...92,419,241
Ensembl chr 9:92,372,072...92,419,236
G
CCDC136
coiled-coil domain containing 136
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:19,793,764...19,824,855
Ensembl chr18:19,793,781...19,824,453
G
CCDC146
coiled-coil domain containing 146
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:102,784,299...102,919,758
Ensembl chr 9:102,787,551...102,919,686
G
CCDC71L
coiled-coil domain containing 71 like
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:106,540,924...106,545,324
Ensembl chr 9:106,544,340...106,545,053
G
CCL24
C-C motif chemokine ligand 24
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:10,347,397...10,361,500
G
CCL26
C-C motif chemokine ligand 26
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:10,381,306...10,385,677
Ensembl chr 3:10,381,306...10,385,677
G
CCM2
CCM2 scaffold protein
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:50,396,423...50,450,442
Ensembl chr18:50,396,424...50,450,132
G
CCT6A
chaperonin containing TCP1 subunit 6A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:16,843,801...16,858,819
Ensembl chr 3:16,843,804...16,858,819
G
CD36
CD36 molecule
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:99,685,748...99,782,296
Ensembl chr 9:99,605,181...99,782,105
G
CDCA7L
cell division cycle associated 7 like
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:90,766,767...90,807,287
Ensembl chr 9:90,766,795...90,806,865
G
CDHR3
cadherin related family member 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:105,822,463...105,893,696
Ensembl chr 9:105,822,868...105,893,688
G
CDK13
cyclin dependent kinase 13
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:54,310,311...54,430,060
Ensembl chr18:54,310,324...54,430,786
G
CDK14
cyclin dependent kinase 14
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:70,678,012...71,310,253
Ensembl chr 9:70,499,873...71,310,250
G
CDK6
cyclin dependent kinase 6
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:72,510,858...72,765,631
Ensembl chr 9:72,518,101...72,764,129
G
CEP41
centrosomal protein 41
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:18,416,170...18,462,579
Ensembl chr18:18,415,562...18,462,575
G
CFAP69
cilia and flagella associated protein 69
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:70,373,422...70,430,383
Ensembl chr 9:70,373,527...70,430,378
G
CFTR
CF transmembrane conductance regulator
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
G
CHCHD2
coiled-coil-helix-coiled-coil-helix domain containing 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:16,812,409...16,819,130
Ensembl chr 3:16,812,404...16,819,124
G
CHCHD3
coiled-coil-helix-coiled-coil-helix domain containing 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:16,052,611...16,348,998
Ensembl chr18:16,052,627...16,350,974
G
CHRM2
cholinergic receptor muscarinic 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:12,455,139...12,600,314
Ensembl chr18:12,455,145...12,600,186
G
CLDN12
claudin 12
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:70,499,770...70,510,082
G
CLDN15
claudin 15
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,931,099...8,937,189
Ensembl chr 3:8,931,097...8,937,184
G
CLDN3
claudin 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:11,019,073...11,020,102
Ensembl chr 3:11,019,073...11,020,102
G
CLDN4
claudin 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:11,039,711...11,053,930
Ensembl chr 3:11,039,706...11,053,925
G
CLEC2L
C-type lectin domain family 2 member L
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:10,155,299...10,176,343
Ensembl chr18:10,160,032...10,176,289
G
CLIP2
CAP-Gly domain containing linker protein 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:11,419,446...11,505,417
G
CNOT4
CCR4-NOT transcription complex subunit 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:13,821,573...13,980,533
Ensembl chr18:13,821,575...13,980,529
G
CNPY4
canopy FGF signaling regulator 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,026,997...8,031,685
Ensembl chr 3:8,027,054...8,031,927
G
COA1
cytochrome c oxidase assembly factor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:51,220,759...51,310,989
G
COBL
cordon-bleu WH2 repeat protein
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:136,850,521...137,055,249
G
COG5
component of oligomeric golgi complex 5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:106,993,771...107,273,889
Ensembl chr 9:106,990,573...107,273,607
G
COL1A2
collagen type I alpha 2 chain
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:74,174,484...74,210,407
Ensembl chr 9:74,173,931...74,210,397
G
COL26A1
collagen type XXVI alpha 1 chain
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:9,003,126...9,164,074
Ensembl chr 3:9,003,743...9,158,130
G
COPG2
COPI coat complex subunit gamma 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:18,209,378...18,331,536
Ensembl chr18:18,209,263...18,332,216
G
COPS6
COP9 signalosome subunit 6
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,002,702...8,005,545
Ensembl chr 3:7,982,892...8,005,633
G
CPA1
carboxypeptidase A1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:18,466,564...18,482,099
Ensembl chr18:18,469,921...18,476,327
G
CPA1
carboxypeptidase A1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:18,482,886...18,536,376
Ensembl chr18:18,485,478...18,507,346
G
CPA2
carboxypeptidase A2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:18,557,518...18,581,957
Ensembl chr18:18,557,518...18,577,682
G
CPA4
carboxypeptidase A4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:18,528,998...18,553,944
Ensembl chr18:18,530,867...18,553,634
G
CPED1
cadherin like and PC-esterase domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:25,655,730...25,937,923
Ensembl chr18:25,655,735...25,937,232
G
CPSF4
cleavage and polyadenylation specific factor 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:6,374,346...6,388,662
Ensembl chr 3:6,374,341...6,388,661
G
CPVL
carboxypeptidase vitellogenic like
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:43,559,619...43,690,951
Ensembl chr18:43,559,619...43,689,542
G
CRCP
CGRP receptor component
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:16,528,949...16,622,005
Ensembl chr 3:16,584,311...16,622,069
G
CREB3L2
cAMP responsive element binding protein 3 like 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:11,533,184...11,666,132
Ensembl chr18:11,533,183...11,666,113
G
CREB5
cAMP responsive element binding protein 5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:43,840,553...44,264,514
Ensembl chr18:43,844,942...44,261,031
G
CRHR2
corticotropin releasing hormone receptor 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:42,251,755...42,296,457
Ensembl chr18:42,251,749...42,295,467
G
CROT
carnitine O-octanoyltransferase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:93,263,606...93,308,150
Ensembl chr 9:93,258,619...93,308,151
G
CRPPA
CDP-L-ribitol pyrophosphorylase A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:85,419,401...85,711,146
Ensembl chr 9:85,422,317...85,710,750
G
CTTNBP2
cortactin binding protein 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:28,130,213...28,573,166
Ensembl chr18:28,415,067...28,573,159
G
CUX1
cut like homeobox 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:9,317,145...9,669,999
Ensembl chr 3:9,317,140...9,669,998
G
CYCS
cytochrome c, somatic
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:47,169,921...47,172,212
Ensembl chr18:47,169,866...47,173,866
G
CYP3A22
cytochrome P450 family 3 subfamily A member 22
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:6,617,256...6,665,179
Ensembl chr 3:6,615,343...6,822,817
G
CYP3A29
cytochrome P450 family 3 subfamily A member 29
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:6,738,502...6,778,121
Ensembl chr 3:6,738,486...6,778,944
G
CYP51A1
cytochrome P450 family 51 subfamily A member 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:72,057,506...72,079,587
Ensembl chr 9:72,057,511...72,079,444
G
CYREN
cell cycle regulator of NHEJ
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:14,127,724...14,133,486
G
DBF4
DBF4-CDC7 kinase regulatory subunit
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:92,449,385...92,481,959
Ensembl chr 9:92,448,731...92,481,379
G
DBNL
drebrin like
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:48,713,335...48,725,692
Ensembl chr18:48,713,340...48,725,697
G
DDC
dopa decarboxylase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:136,496,364...136,571,220
Ensembl chr 9:136,496,365...136,571,212
G
DDX56
DEAD-box helicase 56
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:50,705,613...50,714,967
Ensembl chr18:50,705,632...50,715,033
G
DENND2A
DENN domain containing 2A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:9,186,537...9,310,671
Ensembl chr18:9,186,903...9,310,665
G
DGKB
diacylglycerol kinase beta
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:83,571,927...84,358,712
Ensembl chr 9:83,569,932...84,510,087
G
DGKI
diacylglycerol kinase iota
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:11,705,055...12,187,098
Ensembl chr18:11,705,093...12,177,267
G
DLD
dihydrolipoamide dehydrogenase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:107,642,129...107,668,443
Ensembl chr 9:107,642,095...107,673,583
G
DLX5
distal-less homeobox 5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:76,639,915...76,643,689
Ensembl chr 9:76,639,561...76,643,884
G
DLX6
distal-less homeobox 6
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:76,623,489...76,630,296
Ensembl chr 9:76,625,117...76,630,275
G
DMTF1
cyclin D binding myb like transcription factor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:93,416,451...93,463,129
Ensembl chr 9:93,416,455...93,463,031
G
DNAH11
dynein axonemal heavy chain 11
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:90,420,044...90,768,327
Ensembl chr 9:90,423,092...90,768,353
G
DNAJB9
DnaJ heat shock protein family (Hsp40) member B9
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:36,578,928...36,584,211
Ensembl chr18:36,579,453...36,584,130
G
DNAJC2
DnaJ heat shock protein family (Hsp40) member C2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:103,329,873...103,362,599
Ensembl chr 9:103,329,881...103,362,608
G
DNAJC30
DnaJ heat shock protein family (Hsp40) member C30
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:10,951,173...10,959,935
Ensembl chr 3:10,955,877...10,959,916
G
DOCK4
dedicator of cytokinesis 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:33,423,199...33,879,368
Ensembl chr18:33,423,221...33,879,366
G
DPY19L1
dpy-19 like C-mannosyltransferase 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:38,801,343...39,084,190
Ensembl chr18:38,801,334...38,903,662
G
DTX2
deltex E3 ubiquitin ligase 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:9,880,586...9,925,866
Ensembl chr 3:9,888,561...9,925,850
G
DUS4L
dihydrouridine synthase 4 like
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:107,273,571...107,291,494
Ensembl chr 9:107,273,736...107,289,670
G
DYNC1I1
dynein cytoplasmic 1 intermediate chain 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:75,414,663...75,760,527
Ensembl chr 9:75,414,755...75,760,519
G
EEPD1
endonuclease/exonuclease/phosphatase family domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:37,824,450...37,948,855
Ensembl chr18:37,823,920...37,948,659
G
EGFR
epidermal growth factor receptor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589
G
EIF4H
eukaryotic translation initiation factor 4H
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:11,321,486...11,348,473
Ensembl chr 3:11,320,797...11,348,473
G
ELAPOR2
endosome-lysosome associated apoptosis and autophagy regulator family member 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:93,540,846...93,724,739
Ensembl chr 9:93,540,277...93,723,880
G
ELMO1
engulfment and cell motility 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:36,755,026...37,336,095
Ensembl chr18:36,786,378...37,347,283
G
ELN
elastin
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,205...11,244,897
G
EPDR1
ependymin related 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:108,417,997...108,447,180
Ensembl chr 9:108,418,041...108,447,171
G
EPHB4
EPH receptor B4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,671,052...8,689,778
Ensembl chr 3:8,668,859...8,689,783
G
EPO
erythropoietin
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936
G
ETV1
ETS variant transcription factor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:83,322,818...83,567,136
Ensembl chr 9:83,322,823...83,418,902
G
EVX1
even-skipped homeobox 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:45,327,711...45,331,204
Ensembl chr18:45,326,710...45,331,368
G
EXOC4
exocyst complex component 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:15,105,152...15,906,734
Ensembl chr18:15,105,138...15,906,707
G
FAM133B
family with sequence similarity 133 member B
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:72,470,990...72,503,822
Ensembl chr 9:72,472,338...72,503,756
G
FAM180A
family with sequence similarity 180 member A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:13,574,024...13,589,117
Ensembl chr18:13,575,527...13,592,344
G
FAM185A
family with sequence similarity 185 member A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:102,919,943...103,001,102
Ensembl chr 9:102,919,961...102,969,691
G
FAM200A
family with sequence similarity 200 member A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:6,493,034...6,500,017
Ensembl chr 3:6,490,098...6,498,682
G
FAM221A
family with sequence similarity 221 member A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:48,384,514...48,403,632
Ensembl chr18:48,384,485...48,413,065
G
FAM3C
FAM3 metabolism regulating signaling molecule C
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:25,569,356...25,612,072
Ensembl chr18:25,569,536...25,612,458
G
FBXL13
F-box and leucine rich repeat protein 13
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:102,976,987...103,179,379
Ensembl chr 9:102,976,871...103,152,572
G
FBXO24
F-box protein 24
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,511,426...8,528,743
Ensembl chr 3:8,511,459...8,523,121
G
FERD3L
Fer3 like bHLH transcription factor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:88,316,353...88,323,221
Ensembl chr 9:88,321,883...88,322,377
G
FEZF1
FEZ family zinc finger 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:24,881,850...24,884,790
Ensembl chr18:24,879,031...24,884,917
G
FGL2
fibrinogen like 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:102,869,044...102,875,564
Ensembl chr 9:102,868,802...102,875,576
G
FIGNL1
fidgetin like 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:136,484,217...136,488,262
Ensembl chr 9:136,484,216...136,488,250
G
FIS1
fission, mitochondrial 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,938,250...8,942,102
Ensembl chr 3:8,937,453...8,946,955
G
FKBP14
FKBP prolyl isomerase 14
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:42,903,100...42,913,609
Ensembl chr18:42,903,100...42,913,609
G
FKBP6
FKBP prolyl isomerase family member 6 (inactive)
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:10,659,456...10,716,210
Ensembl chr 3:10,669,664...10,682,618
G
FKBP9
FKBP prolyl isomerase 9
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:40,486,371...40,532,259
Ensembl chr18:40,481,565...40,532,262
G
FLNC
filamin C
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:19,759,734...19,787,616
Ensembl chr18:19,759,740...19,787,618
G
FMC1
formation of mitochondrial complex V assembly factor 1 homolog
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:10,346,029...10,350,372
Ensembl chr18:10,346,032...10,350,339
G
FOXP2
forkhead box P2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:31,335,102...31,890,523
Ensembl chr18:31,335,264...31,888,845
G
FSCN3
fascin actin-bundling protein 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:20,684,621...20,693,552
Ensembl chr18:20,686,746...20,693,552
G
FZD1
frizzled class receptor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:71,346,994...71,356,488
Ensembl chr 9:71,349,988...71,352,104
G
FZD9
frizzled class receptor 9
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:10,753,294...10,762,812
Ensembl chr 3:10,754,783...10,757,147
G
GAL3ST4
galactose-3-O-sulfotransferase 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,162,909...8,168,810
Ensembl chr 3:8,162,912...8,168,637
G
GALNT17
polypeptide N-acetylgalactosaminyltransferase 17
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:15,026,350...15,450,625
Ensembl chr 3:15,026,772...15,450,615
G
GARIN1A
golgi associated RAB2 interactor 1A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:19,919,703...19,945,287
Ensembl chr18:19,919,769...19,932,990
G
GARIN1B
golgi associated RAB2 interactor 1B
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:19,881,164...19,900,716
Ensembl chr18:19,881,444...19,901,594
G
GARS1
glycyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:42,311,711...42,352,201
Ensembl chr18:42,311,576...42,352,162
G
GATAD1
GATA zinc finger domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:72,360,321...72,370,064
Ensembl chr 9:72,360,483...72,368,607
G
GCC1
GRIP and coiled-coil domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:20,701,685...20,708,053
Ensembl chr18:20,701,737...20,707,138
G
GGCT
gamma-glutamylcyclotransferase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:42,410,734...42,418,534
Ensembl chr18:42,410,792...42,418,980
G
GHRHR
growth hormone releasing hormone receptor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:42,030,505...42,046,178
Ensembl chr18:42,030,510...42,046,184
G
GIGYF1
GRB10 interacting GYF protein 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,584,546...8,600,126
Ensembl chr 3:8,584,552...8,594,284
G
GJC3
gap junction protein gamma 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:7,843,398...7,849,864
Ensembl chr 3:7,839,151...7,848,761
G
GLI3
GLI family zinc finger 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:52,403,463...52,697,906
Ensembl chr18:52,404,072...52,697,900
G
GNAI1
G protein subunit alpha i1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:100,187,878...100,272,274
Ensembl chr 9:100,187,843...100,272,532
G
GNAT3
G protein subunit alpha transducin 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:99,848,406...99,910,236
Ensembl chr 9:99,859,691...99,911,158
G
GNB2
G protein subunit beta 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,579,037...8,585,268
Ensembl chr 3:8,579,122...8,584,266
G
GNG11
G protein subunit gamma 11
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:73,721,327...73,726,229
Ensembl chr 9:73,721,322...73,726,222
G
GNGT1
G protein subunit gamma transducin 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:73,403,647...73,717,746
Ensembl chr 9:73,403,740...73,719,161
G
GPC2
glypican 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,169,229...8,175,848
Ensembl chr 3:8,169,343...8,175,580
G
GPNMB
glycoprotein nmb
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:92,037,428...92,071,501
Ensembl chr 9:92,037,509...92,071,499
G
GPR22
G protein-coupled receptor 22
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:107,202,301...107,211,340
Ensembl chr 9:107,205,411...107,211,078
G
GPR37
G protein-coupled receptor 37
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:23,019,752...23,036,483
Ensembl chr18:23,019,749...23,038,356
G
GPR85
G protein-coupled receptor 85
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:32,667,331...32,675,592
Ensembl chr18:32,667,488...32,672,740
G
GRB10
growth factor receptor bound protein 10
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:136,580,363...136,742,552
Ensembl chr 9:136,580,362...136,741,756
G
GRM3
glutamate metabotropic receptor 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:93,731,210...93,974,718
Ensembl chr 9:93,731,217...93,973,543
G
GRM8
glutamate metabotropic receptor 8
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:20,945,049...21,756,952
Ensembl chr18:20,951,003...21,758,568
G
GSAP
gamma-secretase activating protein
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:102,694,846...102,785,208
Ensembl chr 9:102,694,861...102,787,536
G
GSDME
gasdermin E
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:47,524,637...47,583,748
Ensembl chr18:47,526,797...47,583,731
G
GTF2I
general transcription factor IIi
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:11,656,928...11,811,426
Ensembl chr 3:11,671,575...11,811,423
G
GTF2IRD1
GTF2I repeat domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:11,538,183...11,654,795
Ensembl chr 3:11,538,314...11,654,770
G
GUSB
glucuronidase beta
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:16,672,071...16,686,520
Ensembl chr 3:16,671,389...16,689,203
G
H2AZ2
H2A.Z variant histone 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:50,533,382...50,548,341
Ensembl chr18:50,533,429...50,552,392
G
HBP1
HMG-box transcription factor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:106,966,060...106,993,915
Ensembl chr 9:106,966,060...106,993,911
G
HDAC9
histone deacetylase 9
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:87,164,400...88,192,803
Ensembl chr 9:87,449,359...88,186,961
G
HECW1
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:51,383,766...51,803,004
Ensembl chr18:51,387,836...51,802,945
G
HEPACAM2
HEPACAM family member 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:73,020,279...73,074,872
Ensembl chr 9:73,020,281...73,067,520
G
HERPUD2
HERPUD family member 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:38,284,520...38,326,323
Ensembl chr18:38,284,520...38,326,311
G
HGF
hepatocyte growth factor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564
G
HIBADH
3-hydroxyisobutyrate dehydrogenase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:44,985,410...45,102,171
Ensembl chr18:44,985,425...45,208,347
G
HILPDA
hypoxia inducible lipid droplet associated
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:19,944,929...19,947,080
Ensembl chr18:19,944,930...19,947,080
G
HIP1
huntingtin interacting protein 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:10,416,418...10,578,374
Ensembl chr 3:10,416,475...10,578,366
G
HNRNPA2B1
heterogeneous nuclear ribonucleoprotein A2/B1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:46,205,164...46,215,861
Ensembl chr18:46,205,418...46,215,856
G
HOXA1
homeobox A1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:45,477,561...45,480,306
Ensembl chr18:45,477,461...45,480,152
G
HOXA10
homeobox A10
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:45,393,525...45,403,259
Ensembl chr18:45,393,885...45,403,257
G
HOXA11
homeobox A11
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:45,388,523...45,392,190
Ensembl chr18:45,388,375...45,391,953
G
HOXA13
homeobox A13
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:45,373,340...45,379,046
Ensembl chr18:45,373,440...45,376,325
G
HOXA2
homeobox A2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:45,470,079...45,473,345
Ensembl chr18:45,470,862...45,473,876
G
HOXA3
homeobox A3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:45,421,542...45,467,803
Ensembl chr18:45,454,213...45,466,537
G
HOXA4
homeobox A4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:45,443,268...45,445,662
G
HOXA5
homeobox A5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:45,429,691...45,432,723
Ensembl chr18:45,421,663...45,432,885
G
HOXA6
homeobox A6
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:45,423,530...45,429,947
G
HOXA7
homeobox A7
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:45,417,137...45,419,113
Ensembl chr18:45,417,203...45,419,101
G
HOXA9
homeobox A9
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:45,404,594...45,411,512
Ensembl chr18:45,408,375...45,411,509
G
HSPB1
heat shock protein family B (small) member 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:10,038,074...10,039,441
Ensembl chr 3:10,037,949...10,039,704
G
HUS1
HUS1 checkpoint clamp component
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:48,522,914...48,539,267
Ensembl chr18:48,522,998...48,534,682
G
HYAL4
hyaluronidase 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:23,623,379...23,662,528
Ensembl chr18:23,625,399...23,660,792
G
HYCC1
hyccin PI4KA lipid kinase complex subunit 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:91,729,044...91,821,629
Ensembl chr 9:91,729,060...91,821,619
G
IFRD1
interferon related developmental regulator 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:33,198,002...33,248,912
Ensembl chr18:33,193,426...33,248,297
G
IFT22
intraflagellar transport 22
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,977,497...8,981,635
Ensembl chr 3:8,976,306...8,981,510
G
IFT56
intraflagellar transport 56
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:10,462,670...10,509,595
Ensembl chr18:10,462,669...10,509,565
G
IGF2BP3
insulin like growth factor 2 mRNA binding protein 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:92,104,786...92,272,264
Ensembl chr 9:92,104,848...92,272,211
G
IGFBP1
insulin like growth factor binding protein 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:50,018,487...50,022,799
Ensembl chr18:50,018,487...50,022,799
G
IGFBP3
insulin like growth factor binding protein 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:50,002,921...50,009,425
Ensembl chr18:50,003,022...50,010,690
G
IKZF1
IKAROS family zinc finger 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:136,372,202...136,464,942
Ensembl chr 9:136,372,725...136,464,940
G
IL6
interleukin 6
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
G
IMMP2L
inner mitochondrial membrane peptidase subunit 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:34,006,841...34,930,252
Ensembl chr18:34,006,900...34,907,287
G
IMPDH1
inosine monophosphate dehydrogenase 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:19,979,983...19,996,432
Ensembl chr18:19,979,983...19,996,429
G
ING3
inhibitor of growth family member 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:25,946,529...25,976,528
Ensembl chr18:25,948,097...25,976,499
G
INHBA
inhibin subunit beta A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:53,115,379...53,117,128 NCBI chr18:52,889,684...52,909,260
Ensembl chr18:52,889,684...52,900,967
G
INMT
indolethylamine N-methyltransferase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:42,213,335...42,218,175
Ensembl chr18:42,209,352...42,218,174
G
IQUB
IQ motif and ubiquitin domain containing
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:23,902,954...24,014,626
Ensembl chr18:23,902,980...24,014,817
G
IRF5
interferon regulatory factor 5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:19,678,377...19,691,154
Ensembl chr18:19,678,687...19,691,243
G
ITGB8
integrin subunit beta 8
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:89,342,245...89,450,701
Ensembl chr 9:89,341,162...89,448,665
G
ITPRID1
ITPR interacting domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:41,428,527...41,474,647
Ensembl chr18:41,456,829...41,589,002
G
ITPRID1
ITPR interacting domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:41,491,840...41,768,828
Ensembl chr18:41,456,829...41,589,002
G
JAZF1
JAZF zinc finger 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:44,488,530...44,827,101
Ensembl chr18:44,488,511...44,827,091
G
KBTBD2
kelch repeat and BTB domain containing 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:40,604,458...40,636,401
Ensembl chr18:40,604,558...40,637,085
G
KCND2
potassium voltage-gated channel subfamily D member 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:26,139,457...26,624,210
Ensembl chr18:26,139,457...26,623,233
G
KCP
kielin cysteine rich BMP regulator
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:19,689,111...19,741,641
Ensembl chr18:19,711,112...19,741,637
G
KCTD7
potassium channel tetramerization domain containing 7
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:16,382,333...16,393,861
Ensembl chr 3:16,385,006...16,393,841
G
KDM7A
lysine demethylase 7A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:9,581,468...9,664,750
Ensembl chr18:9,581,384...9,664,748
G
KIAA1549
KIAA1549
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:10,676,845...10,829,487
Ensembl chr18:10,675,328...10,829,360
G
KLF14
KLF transcription factor 14
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:18,147,124...18,149,177
Ensembl chr18:18,147,124...18,149,177
G
KLHDC10
kelch domain containing 10
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:18,667,377...18,723,090
Ensembl chr18:18,667,365...18,723,067
G
KLHL7
kelch like family member 7
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:91,901,876...91,971,706
Ensembl chr 9:91,924,495...91,971,695
G
KLRG2
killer cell lectin like receptor G2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:10,213,477...10,233,562
Ensembl chr18:10,213,758...10,234,121
G
KMT2E
lysine methyltransferase 2E (inactive)
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:104,876,301...105,007,161
Ensembl chr 9:104,911,821...105,007,084
G
KPNA7
karyopherin subunit alpha 7
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:6,167,382...6,201,282
Ensembl chr 3:6,167,385...6,200,982
G
KRIT1
KRIT1 ankyrin repeat containing
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:72,143,652...72,184,774
Ensembl chr 9:72,142,835...72,185,661
G
LAMB1
laminin subunit beta 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:107,670,120...107,747,242
Ensembl chr 9:107,671,152...107,772,269
G
LAMB4
laminin subunit beta 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:107,777,842...107,899,725
Ensembl chr 9:107,778,499...107,880,274
G
LAMTOR4
late endosomal/lysosomal adaptor, MAPK and MTOR activator 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,119,338...8,171,790
Ensembl chr 3:8,155,188...8,164,721
G
LANCL2
LanC like glutathione S-transferase 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:48,550,752...48,593,055
Ensembl chr18:48,550,944...48,593,455
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LAT2
linker for activation of T cells family member 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:11,353,213...11,372,100
Ensembl chr 3:11,352,579...11,372,092
G
LEP
leptin
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323
G
LHFPL3
LHFPL tetraspan subfamily member 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:104,269,664...104,828,686
Ensembl chr 9:104,275,423...104,827,405
G
LIMK1
LIM domain kinase 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:11,252,820...11,279,286
Ensembl chr 3:11,252,648...11,279,284
G
LINC02860
long intergenic non-protein coding RNA 2860
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:45,811,294...45,812,778
G
LMOD2
leiomodin 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:23,803,927...23,815,772
Ensembl chr18:23,803,682...23,812,479
G
LMTK2
lemur tyrosine kinase 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:5,322,238...5,409,223
Ensembl chr 3:5,322,255...5,409,171
G
LOC100157987
zinc finger and SCAN domain-containing protein 21-like
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:37,653,145...37,655,120
G
LOC100514038
TSC22 domain family protein 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,390,945...8,406,240
Ensembl chr 3:8,395,229...8,406,218
G
LOC100514786
ATP-binding cassette sub-family A member 13
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:135,104,047...135,452,477
Ensembl chr 9:135,115,078...135,451,812
G
LOC100514951
paired immunoglobulin-like type 2 receptor beta
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,045,304...8,061,902
G
LOC100519098
sterile alpha motif domain-containing protein 9
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:72,965,088...72,999,261
Ensembl chr 9:72,964,869...72,999,258
G
LOC100521938
probable G-protein coupled receptor 141
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:36,611,676...36,662,600
Ensembl chr18:36,612,285...36,613,196
G
LOC100523238
olfactory receptor 2AE1-like
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:7,678,924...7,679,886
G
LOC100525756
DNA-directed RNA polymerase II subunit RPB11-a pseudogene
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:107,462,166...107,462,817
G
LOC100620992
general transcription factor II-I repeat domain-containing protein 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:11,841,953...11,898,456
G
LOC100738822
retinitis pigmentosa 9 protein
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:40,397,551...40,415,127
Ensembl chr18:40,539,046...40,564,228
G
LOC102162486
putative RNA-binding protein Luc7-like 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:10,268,077...10,333,227
Ensembl chr18:10,268,960...10,333,156
G
LOC110259374
uncharacterized LOC110259374
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 2:76,648,079...76,651,850
G
LRCH4
leucine rich repeats and calponin homology domain containing 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,497,456...8,511,361
Ensembl chr 3:8,499,285...8,511,262
G
LRGUK
leucine rich repeats and guanylate kinase domain containing
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:14,957,257...15,074,978
Ensembl chr18:14,957,509...15,071,876
G
LRRC17
leucine rich repeat containing 17
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:103,062,653...103,099,886
Ensembl chr 9:103,062,667...103,094,350
G
LRRC4
leucine rich repeat containing 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:20,319,317...20,322,875
Ensembl chr18:20,319,701...20,322,848
G
LRRC72
leucine rich repeat containing 72
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:85,811,382...85,844,726
Ensembl chr 9:85,803,242...85,844,792
G
LRRD1
leucine rich repeats and death domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:72,094,221...72,142,939
Ensembl chr 9:72,094,065...72,140,882
G
LRRN3
leucine rich repeat neuronal 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:34,424,774...34,465,661
Ensembl chr18:34,425,836...34,465,665
G
LRWD1
leucine rich repeats and WD repeat domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:9,806,251...9,812,488
Ensembl chr 3:9,806,246...9,812,478
G
LSM5
LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:40,752,390...40,755,909
Ensembl chr18:40,752,461...40,755,906
G
LSM8
LSM8 homolog, U6 small nuclear RNA associated
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:28,124,116...28,130,375
Ensembl chr18:28,108,308...28,130,330
G
LSMEM1
leucine rich single-pass membrane protein 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:33,184,167...33,190,910
Ensembl chr18:33,184,171...33,190,831
G
MACC1
MET transcriptional regulator MACC1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:89,130,971...89,342,181
Ensembl chr 9:89,102,621...89,210,281
G
MAGI2
membrane associated guanylate kinase, WW and PDZ domain containing 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:100,846,693...102,171,199
Ensembl chr 9:100,847,013...102,170,004
G
MALSU1
mitochondrial assembly of ribosomal large subunit 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:92,088,409...92,104,334
Ensembl chr 9:92,088,425...92,104,643
G
MATCAP2
microtubule associated tyrosine carboxypeptidase 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:37,714,857...37,793,059
Ensembl chr18:37,708,101...37,793,056
G
MBLAC1
metallo-beta-lactamase domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,029,776...8,033,492
Ensembl chr 3:8,031,835...8,033,484
G
MCM7
minichromosome maintenance complex component 7
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,005,890...8,014,047
Ensembl chr 3:8,005,900...8,014,053
G
MDFIC
MyoD family inhibitor domain containing
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:31,026,048...31,125,664
Ensembl chr18:31,027,056...31,125,465
G
MDH2
malate dehydrogenase 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:10,120,121...10,132,705
Ensembl chr 3:10,120,083...10,132,752
G
MEOX2
mesenchyme homeobox 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:84,945,178...85,009,939
Ensembl chr 9:84,943,199...85,010,157
G
MEPCE
methylphosphate capping enzyme
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,356,602...8,361,798
Ensembl chr 3:8,357,289...8,364,661
G
MEST
mesoderm specific transcript
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:18,319,126...18,358,655
Ensembl chr18:18,327,536...18,345,843
G
MET
MET proto-oncogene, receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512
G
METTL27
methyltransferase like 27
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:11,054,822...11,057,734
Ensembl chr 3:11,054,960...11,057,704
G
MINDY4
MINDY lysine 48 deubiquitinase 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:42,096,351...42,202,511
Ensembl chr18:42,096,353...42,200,694
G
MIR148A
microRNA mir-148a
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:46,415,213...46,415,280
Ensembl chr18:46,415,202...46,415,281
G
MIR183
microRNA mir-183
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:18,982,269...18,982,338
Ensembl chr18:18,982,269...18,982,338
G
MIR29A
microRNA mir-29a
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:18,040,032...18,040,117
Ensembl chr18:18,040,032...18,040,118
G
MIR29B-1
microRNA mir-29b-1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:18,039,629...18,039,709
Ensembl chr18:18,039,629...18,039,709
G
MIR335
microRNA mir-335
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:18,341,580...18,341,659
Ensembl chr18:18,341,568...18,341,659
G
MIR489
microRNA mir-489
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:73,330,690...73,330,770
Ensembl chr 9:73,330,690...73,330,770
G
MIR96
microRNA mir-96
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:18,982,506...18,982,590
Ensembl chr18:18,982,506...18,982,590
G
MKLN1
muskelin 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:17,493,806...17,832,519
Ensembl chr18:17,501,857...17,832,503
G
MKRN1
makorin ring finger protein 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:9,333,637...9,358,854
Ensembl chr18:9,333,684...9,358,849
G
MLXIPL
MLX interacting protein like
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:10,898,675...10,934,257
Ensembl chr 3:10,898,670...10,934,048
G
MOSPD3
motile sperm domain containing 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,531,745...8,533,828
Ensembl chr 3:8,531,228...8,533,932
G
MPLKIP
M-phase specific PLK1 interacting protein
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:54,283,315...54,285,823
Ensembl chr18:54,283,325...54,285,820
G
MRPL32
mitochondrial ribosomal protein L32
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:51,865,077...51,909,291
G
MRPS17
mitochondrial ribosomal protein S17
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:16,946,344...16,950,870
G
MRPS24
mitochondrial ribosomal protein S24
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:48,825,747...48,872,294
Ensembl chr18:48,825,782...48,830,609
G
MTERF1
mitochondrial transcription termination factor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:71,287,587...71,853,866
Ensembl chr 9:71,845,662...71,853,845
G
MTPN
myotrophin
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:13,330,049...13,395,297
Ensembl chr18:13,330,029...13,395,460
G
MTURN
maturin, neural progenitor differentiation regulator homolog
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:42,767,452...42,802,109
Ensembl chr18:42,771,454...42,802,093
G
MYL10
myosin light chain 10
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:9,187,808...9,198,476
Ensembl chr 3:9,187,812...9,198,493
G
MYL7
myosin light chain 7
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:51,026,436...51,028,917
Ensembl chr18:50,979,167...51,029,844
G
MYO1G
myosin IG
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:50,466,450...50,483,520
Ensembl chr18:50,466,449...50,483,518
G
NACAD
NAC alpha domain containing
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:50,385,116...50,394,787
G
NAMPT
nicotinamide phosphoribosyltransferase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:106,119,896...106,162,126
Ensembl chr 9:106,119,899...106,294,586
G
NAPEPLD
N-acyl phosphatidylethanolamine phospholipase D
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:103,210,655...103,309,018
Ensembl chr 9:103,210,748...103,262,910
G
NCF1
neutrophil cytosolic factor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:11,820,367...11,834,394
Ensembl chr 3:11,820,266...11,839,354
G
NDUFA5
NADH:ubiquinone oxidoreductase subunit A5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:23,881,872...23,896,699
Ensembl chr18:23,881,966...23,900,855
G
NDUFB2
NADH:ubiquinone oxidoreductase subunit B2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:9,135,359...9,150,513
Ensembl chr18:9,132,432...9,150,543
G
NEUROD6
neuronal differentiation 6
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:41,757,356...41,763,837
Ensembl chr18:41,760,546...41,763,833
G
NFE2L3
NFE2 like bZIP transcription factor 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:46,213,392...46,250,309
Ensembl chr18:46,217,517...46,250,256
G
NIPSNAP2
nipsnap homolog 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:16,910,589...16,941,767
Ensembl chr 3:16,882,643...16,941,739
G
NME8
NME/NM23 family member 8
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:108,358,289...108,393,755
Ensembl chr 9:108,358,535...108,392,781
G
NOD1
nucleotide binding oligomerization domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:42,464,667...42,509,135
Ensembl chr18:42,432,050...42,512,264
G
NPC1L1
NPC1 like intracellular cholesterol transporter 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:50,726,854...50,757,676
Ensembl chr18:50,726,922...50,757,649
G
NPSR1
neuropeptide S receptor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:38,942,499...39,212,791
Ensembl chr18:38,942,487...39,085,754
G
NPTX2
neuronal pentraxin 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:5,720,686...5,732,458
Ensembl chr 3:5,720,680...5,732,454
G
NPVF
neuropeptide VF precursor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:47,082,678...47,087,651
Ensembl chr18:47,082,963...47,087,357
G
NPY
neuropeptide Y
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:47,985,796...47,993,726
Ensembl chr18:47,985,725...47,992,667
G
NRCAM
neuronal cell adhesion molecule
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:107,928,866...108,248,018
Ensembl chr 9:107,928,866...108,247,593
G
NRF1
nuclear respiratory factor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:19,008,408...19,142,678
Ensembl chr18:18,998,930...19,142,628
G
NSUN5
NOP2/Sun RNA methyltransferase 5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:10,632,670...10,642,063
Ensembl chr 3:10,632,677...10,642,061
G
NT5C3A
5'-nucleotidase, cytosolic IIIA
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:40,440,890...40,483,043
Ensembl chr18:40,441,171...40,483,376
G
NUDCD3
NudC domain containing 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:50,759,069...50,830,336
Ensembl chr18:50,759,221...50,830,332
G
NUP205
nucleoporin 205
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:13,674,301...13,777,773
Ensembl chr18:13,674,312...13,811,976
G
NUP42
nucleoporin 42
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:91,981,713...92,001,798
Ensembl chr 9:91,981,754...92,012,113
G
NUPR2
nuclear protein 2, transcriptional regulator
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:16,803,928...16,807,843
Ensembl chr 3:16,806,900...16,807,196
G
NYAP1
neuronal tyrosine phosphorylated phosphoinositide-3-kinase adaptor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,408,698...8,418,499
Ensembl chr 3:8,408,729...8,417,096
G
OGDH
oxoglutarate dehydrogenase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:50,609,415...50,684,990
Ensembl chr18:50,609,418...50,684,964
G
OPN1SW
opsin 1, short wave sensitive
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:19,836,453...19,839,425
Ensembl chr18:19,836,453...19,839,425
G
ORAI2
ORAI calcium release-activated calcium modulator 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:9,782,626...9,796,761
Ensembl chr 3:9,784,078...9,796,755
G
ORC5
origin recognition complex subunit 5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:104,078,792...104,166,530
Ensembl chr 9:104,083,830...104,166,541
G
OSBPL3
oxysterol binding protein like 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:47,298,303...47,491,248
Ensembl chr18:47,298,328...47,491,245
G
PALS2
protein associated with LIN7 2, MAGUK p55 family member
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:47,589,547...47,711,433
Ensembl chr18:47,593,049...47,710,570
G
PARP12
poly(ADP-ribose) polymerase family member 12
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:9,673,841...9,715,169
Ensembl chr18:9,674,944...9,716,743
G
PAX4
paired box 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:20,675,874...20,680,315
Ensembl chr18:20,673,114...20,680,287
G
PCLO
piccolo presynaptic cytomatrix protein
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:97,114,503...97,513,081
Ensembl chr 9:97,114,511...97,513,072
G
PCOLCE
procollagen C-endopeptidase enhancer
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,523,455...8,528,749
Ensembl chr 3:8,523,449...8,528,739
G
PDAP1
PDGFA associated protein 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:6,342,548...6,355,213
Ensembl chr 3:6,343,831...6,355,213
G
PDE1C
phosphodiesterase 1C
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:40,818,316...41,410,555
Ensembl chr18:40,820,644...41,409,087
G
PDK4
pyruvate dehydrogenase kinase 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:75,246,956...75,260,134
Ensembl chr 9:75,246,002...75,260,134
G
PEG10
paternally expressed 10
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:74,474,121...74,486,983
Ensembl chr 9:74,474,107...74,486,979
G
PEX1
peroxisomal biogenesis factor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:72,385,755...72,444,718
Ensembl chr 9:72,385,475...72,444,582
G
PGAM2
phosphoglycerate mutase 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:48,693,832...48,712,787
Ensembl chr18:48,710,347...48,713,862
G
PHKG1
phosphorylase kinase catalytic subunit gamma 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:16,822,042...16,831,054
Ensembl chr 3:16,822,043...16,834,329
G
PHTF2
putative homeodomain transcription factor 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:102,221,033...102,348,748
Ensembl chr 9:102,221,326...102,348,696
G
PIK3CG
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:106,698,200...106,748,217
Ensembl chr 9:106,698,207...106,745,099
G
PLEKHA8
pleckstrin homology domain containing A8
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:42,841,085...42,901,203
Ensembl chr18:42,820,921...42,902,867
G
PLOD3
procollagen-lysine,2-oxoglutarate 5-dioxygenase 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,911,787...8,919,525
Ensembl chr 3:8,911,791...8,919,516
G
PLXNA4
plexin A4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:16,475,250...16,977,821
Ensembl chr18:16,427,673...16,973,768
G
PMPCB
peptidase, mitochondrial processing subunit beta
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:103,316,161...103,329,653
Ensembl chr 9:103,316,190...103,330,290
G
PNPLA8
patatin like phospholipase domain containing 8
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:108,271,343...108,320,574
Ensembl chr 9:108,269,830...108,320,267
G
PODXL
podocalyxin like
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:17,444,339...17,494,507
G
POLD2
DNA polymerase delta 2, accessory subunit
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:51,038,272...51,046,782
Ensembl chr18:51,038,358...51,046,779
G
POLM
DNA polymerase mu
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:51,077,845...51,091,354
Ensembl chr18:51,079,503...51,088,781
G
POLR1F
RNA polymerase I subunit F
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:88,760,394...88,785,802
Ensembl chr 9:88,760,398...88,785,802
G
POLR2J
RNA polymerase II subunit J
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:9,812,746...9,816,657
Ensembl chr 3:9,812,441...9,816,656
G
POM121C
POM121 transmembrane nucleoporin C
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:10,609,075...10,633,374
G
PON1
paraoxonase 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723
G
PON2
paraoxonase 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:75,027,270...75,051,441
Ensembl chr 9:75,027,097...75,051,422
G
PON3
paraoxonase 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:74,983,040...75,017,947
Ensembl chr 9:74,991,277...75,017,942
G
POP7
POP7 homolog, ribonuclease P/MRP subunit
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,607,531...8,609,391
Ensembl chr 3:8,605,018...8,610,218
G
POR
cytochrome p450 oxidoreductase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:10,212,734...10,272,184
Ensembl chr 3:10,212,735...10,281,823
G
POT1
protection of telomeres 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:22,885,704...22,981,893
Ensembl chr18:22,885,749...22,981,890
G
POU6F2
POU class 6 homeobox 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:54,744,833...55,231,628
Ensembl chr18:54,748,790...55,231,511
G
PPIA
peptidylprolyl isomerase A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:50,563,130...50,566,857
G
PPP1R35
protein phosphatase 1 regulatory subunit 35
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,363,005...8,378,351
Ensembl chr 3:8,363,009...8,364,347
G
PPP1R3A
protein phosphatase 1 regulatory subunit 3A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:31,997,667...32,039,949
Ensembl chr18:31,997,713...32,039,852
G
PPP1R9A
protein phosphatase 1 regulatory subunit 9A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:74,635,285...74,944,050
Ensembl chr 9:74,635,403...74,940,362
G
PRKAR2B
protein kinase cAMP-dependent type II regulatory subunit beta
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:106,851,044...106,957,519
Ensembl chr 9:106,851,031...106,957,510
G
PRKRIP1
PRKR interacting protein 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:9,723,988...9,761,373
Ensembl chr 3:9,724,023...9,759,020
G
PRPS1L1
phosphoribosyl pyrophosphate synthetase 1 like 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:87,161,863...87,164,314
Ensembl chr 9:87,163,252...87,164,208
G
PRR15
proline rich 15
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:43,181,283...43,184,932
Ensembl chr18:43,181,290...43,184,555
G
PRRT4
proline rich transmembrane protein 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:20,018,407...20,029,684
Ensembl chr18:20,018,229...20,029,748
G
PSMA2
proteasome 20S subunit alpha 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:51,909,399...51,919,859
Ensembl chr18:51,909,473...51,921,238
G
PSMC2
proteasome 26S subunit, ATPase 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:103,362,684...103,376,048
Ensembl chr 9:103,362,599...103,376,343
G
PSPH
phosphoserine phosphatase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:16,877,904...16,903,062
Ensembl chr 3:16,877,923...16,907,952
G
PTCD1
pentatricopeptide repeat domain 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:6,360,713...6,374,180
Ensembl chr 3:6,360,732...6,371,382
G
PTN
pleiotrophin
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:12,219,708...12,309,045
Ensembl chr18:12,219,787...12,309,044
G
PTPN12
protein tyrosine phosphatase non-receptor type 12
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:102,480,914...102,563,969
Ensembl chr 9:102,480,924...102,563,751
G
PTPRZ1
protein tyrosine phosphatase receptor type Z1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:25,046,027...25,228,276
Ensembl chr18:25,045,742...25,168,053
G
PURB
purine rich element binding protein B
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:50,510,010...50,518,965
Ensembl chr18:50,510,182...50,511,108
G
PUS7
pseudouridine synthase 7
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:105,325,762...105,388,972
Ensembl chr 9:105,325,763...105,388,928
G
PVRIG
PVR related immunoglobulin domain containing
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,230,311...8,232,840
Ensembl chr 3:8,230,328...8,232,836
G
RAB19
RAB19, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:9,367,239...9,391,097
Ensembl chr18:9,364,451...9,384,083
G
RABGEF1
RAB guanine nucleotide exchange factor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:16,308,112...16,376,604
Ensembl chr 3:16,308,120...16,376,592
G
RALA
RAS like proto-oncogene A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:54,548,523...54,630,746
Ensembl chr18:54,550,238...54,588,980
G
RAMP3
receptor activity modifying protein 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:50,319,795...50,366,757
Ensembl chr18:50,319,797...50,366,739
G
RAPGEF5
Rap guanine nucleotide exchange factor 5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:90,958,078...91,232,256
Ensembl chr 9:90,958,078...91,578,992
G
RASA4B
RAS p21 protein activator 4B
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:9,816,576...9,846,340
G
RBM28
RNA binding motif protein 28
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:20,034,305...20,069,159
Ensembl chr18:20,034,334...20,072,938
G
RBM48
RNA binding motif protein 48
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:72,444,811...72,453,990
Ensembl chr 9:72,444,828...72,456,397
G
RCC1L
RCC1 like
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:11,915,540...11,948,711
Ensembl chr 3:11,915,600...11,948,715
G
RELN
reelin
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:103,460,855...103,963,728
Ensembl chr 9:103,460,863...103,963,883
G
RFC2
replication factor C subunit 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:11,373,489...11,392,690
Ensembl chr 3:11,373,492...11,392,695
G
RHBDD2
rhomboid domain containing 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:10,299,201...10,329,638
Ensembl chr 3:10,299,209...10,309,622
G
RINT1
RAD50 interactor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:105,392,853...105,430,198
Ensembl chr 9:105,392,864...105,430,160
G
RNF133
ring finger protein 133
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:24,530,956...24,533,936
G
RNF148
ring finger protein 148
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:24,521,658...24,528,943
G
RSBN1L
round spermatid basic protein 1 like
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:102,366,605...102,435,215
Ensembl chr 9:102,363,944...102,435,198
G
RUNDC3B
RUN domain containing 3B
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:92,525,589...92,823,574
Ensembl chr 9:92,528,662...92,823,561
G
SAP25
Sin3A associated protein 25
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,497,449...8,500,546
Ensembl chr 3:8,497,453...8,499,154
G
SBDS
SBDS ribosome maturation factor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:16,161,524...16,168,619
Ensembl chr 3:16,161,580...16,169,453
G
SCIN
scinderin
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:82,103,271...82,185,254
Ensembl chr 9:82,103,087...82,185,283
G
SCRN1
secernin 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:42,924,607...42,987,926
Ensembl chr18:42,924,409...42,987,923
G
SDHAF3
succinate dehydrogenase complex assembly factor 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:76,699,512...76,771,834
G
SEC61G
SEC61 translocon subunit gamma
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:139,128,287...139,135,831
Ensembl chr 9:139,128,296...139,135,727
G
SEM1
SEM1 26S proteasome subunit
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:76,324,550...76,349,261
G
SEMA3A
semaphorin 3A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:95,934,937...96,387,950
Ensembl chr 9:96,181,770...96,387,950
G
SEMA3C
semaphorin 3C
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:99,114,649...99,432,683
Ensembl chr 9:99,251,715...99,433,224
G
SEMA3D
semaphorin 3D
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:95,280,637...95,486,109
Ensembl chr 9:95,280,593...95,486,090
G
SEMA3E
semaphorin 3E
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:96,682,178...96,941,074
Ensembl chr 9:96,682,246...96,941,072
G
SEPTIN14
septin 14
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:16,988,590...17,026,258
Ensembl chr 3:16,991,002...17,026,949
G
SEPTIN7
septin 7
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:38,082,626...38,183,354
Ensembl chr18:38,068,303...38,284,645
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SERPINE1
serpin family E member 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547
G
SFRP4
secreted frizzled related protein 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:108,404,314...108,414,335
Ensembl chr 9:108,404,040...108,414,307
G
SGCE
sarcoglycan epsilon
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:74,402,714...74,473,904
Ensembl chr 9:74,402,717...74,473,910
G
SH2B2
SH2B adaptor protein 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:9,670,838...9,695,325
Ensembl chr 3:9,670,815...9,695,629
G
SKAP2
src kinase associated phosphoprotein 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:45,636,929...45,813,748
Ensembl chr18:45,637,360...45,790,259
G
SLC12A9
solute carrier family 12 member 9
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,696,593...8,712,904
Ensembl chr 3:8,697,439...8,712,918
G
SLC13A1
solute carrier family 13 member 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:24,136,391...24,213,445
Ensembl chr18:24,011,108...24,219,235
G
SLC13A4
solute carrier family 13 member 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:13,593,735...13,641,649
Ensembl chr18:13,593,756...13,636,180
G
SLC25A13
solute carrier family 25 member 13
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:75,781,421...75,980,606
Ensembl chr 9:75,781,361...75,980,518
G
SLC25A40
solute carrier family 25 member 40
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:92,481,524...92,526,729
Ensembl chr 9:92,481,564...92,528,186
G
SLC26A3
solute carrier family 26 member 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:107,480,629...107,518,771
Ensembl chr 9:107,480,641...107,518,728
G
SLC26A4
solute carrier family 26 member 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:107,365,121...107,431,065
Ensembl chr 9:107,365,814...107,431,062
G
SLC26A5
solute carrier family 26 member 5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:103,382,558...103,420,054
Ensembl chr 9:103,378,776...103,453,730
G
SLC35B4
solute carrier family 35 member B4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:14,880,322...14,916,406
Ensembl chr18:14,880,765...14,911,468
G
SLC37A3
solute carrier family 37 member 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:9,383,770...9,442,787
Ensembl chr18:9,383,792...9,452,570
G
SMKR1
small lysine rich protein 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:19,189,966...19,200,030
Ensembl chr18:19,144,096...19,199,576
G
SMO
smoothened, frizzled class receptor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:19,450,730...19,478,796
Ensembl chr18:19,450,743...19,478,898
G
SMURF1
SMAD specific E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:6,037,732...6,142,569
Ensembl chr 3:6,037,741...6,142,575
G
SND1
staphylococcal nuclease and tudor domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:20,261,473...20,653,621
Ensembl chr18:20,261,476...20,653,590
G
SNX10
sorting nexin 10
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:46,064,575...46,142,983
Ensembl chr18:46,064,580...46,142,945
G
SNX13
sorting nexin 13
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:86,964,038...87,087,200
Ensembl chr 9:86,964,045...87,086,577
G
SOSTDC1
sclerostin domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:85,743,332...85,747,893
Ensembl chr 9:85,743,341...85,747,591
G
SP4
Sp4 transcription factor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:90,337,355...90,410,529
Ensembl chr 9:90,337,449...90,410,268
G
SP8
Sp8 transcription factor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:89,764,671...89,767,428
Ensembl chr 9:89,764,764...89,767,393
G
SPAM1
sperm adhesion molecule 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:23,589,947...23,598,739
Ensembl chr18:23,589,952...23,598,739
G
SPMIP4
sperm microtubule inner protein 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:47,117,547...47,160,195
Ensembl chr18:47,117,601...47,160,344
G
SPMIP7
sperm microtubule inner protein 7
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:136,189,235...136,224,000
Ensembl chr 9:136,188,608...136,235,985
G
SRI
sorcin
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:68,492,235...68,515,247
Ensembl chr 9:68,490,890...68,515,322
G
SRPK2
SRSF protein kinase 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:105,009,550...105,264,689
Ensembl chr 9:105,006,987...105,264,731
G
SRRM3
serine/arginine repetitive matrix 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:10,046,538...10,102,149
Ensembl chr 3:10,046,538...10,102,124
G
SRRT
serrate, RNA effector molecule
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,717,782...8,731,204
Ensembl chr 3:8,717,785...8,731,201
G
SSC4D
scavenger receptor cysteine rich family member with 4 domains
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:9,960,696...9,974,330
Ensembl chr 3:9,961,120...9,974,320
G
SSMEM1
serine rich single-pass membrane protein 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:18,604,054...18,613,285
Ensembl chr18:18,603,390...18,613,430
G
ST7
suppression of tumorigenicity 7
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:29,028,416...29,285,495
Ensembl chr18:29,027,811...29,285,505
G
STAG3
STAG3 cohesin complex component
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,175,908...8,211,898
Ensembl chr 3:8,175,915...8,211,889
G
STARD3NL
STARD3 N-terminal like
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:108,631,239...108,675,617
Ensembl chr 9:108,631,256...108,676,183
G
STEAP1
STEAP family member 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 5:8,996,943...8,997,498 NCBI chr 9:70,276,031...70,295,693
Ensembl chr 9:70,091,211...70,295,690
G
STEAP2
STEAP2 metalloreductase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:70,334,785...70,365,687
Ensembl chr 9:70,349,362...70,366,767
G
STEAP4
STEAP4 metalloreductase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:68,549,142...68,570,350
Ensembl chr 9:68,546,465...68,570,424
G
STK17A
serine/threonine kinase 17a
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:51,325,438...51,362,181
Ensembl chr18:51,322,240...51,362,177
G
STK31
serine/threonine kinase 31
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:48,312,730...48,382,358
Ensembl chr18:48,312,730...48,388,464
G
STMP1
short transmembrane mitochondrial protein 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr13:138,779,975...138,781,436
G
STRA8
stimulated by retinoic acid 8
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:14,055,258...14,080,399
Ensembl chr18:14,055,258...14,080,399
G
STRIP2
striatin interacting protein 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:19,209,047...19,255,671
Ensembl chr18:19,209,051...19,255,676
G
STX1A
syntaxin 1A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:10,974,127...10,991,846
Ensembl chr 3:10,974,127...10,991,873
G
STYXL1
serine/threonine/tyrosine interacting like 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:10,131,508...10,212,611
Ensembl chr 3:10,132,093...10,205,179
G
SUGCT
succinyl-CoA:glutarate-CoA transferase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:53,639,588...54,283,272
Ensembl chr18:53,639,872...54,283,251
G
SUMF2
sulfatase modifying factor 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:16,819,761...16,843,573
Ensembl chr 3:16,830,922...16,843,584
G
SUN3
Sad1 and UNC84 domain containing 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:48,484,700...48,519,311
Ensembl chr18:48,485,037...48,519,230
G
SVOPL
SVOP like
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:10,968,717...11,045,365
Ensembl chr18:10,968,790...11,043,021
G
SYPL1
synaptophysin like 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:105,952,898...105,985,172
Ensembl chr 9:105,918,115...105,986,107
G
TAC1
tachykinin precursor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:77,197,403...77,206,529
Ensembl chr 9:77,197,536...77,206,523
G
TAF6
TATA-box binding protein associated factor 6
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,017,675...8,026,982
Ensembl chr 3:8,017,675...8,026,888
G
TAS2R16
taste 2 receptor member 16
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:24,281,944...24,290,222
Ensembl chr18:24,286,430...24,287,332
G
TAX1BP1
Tax1 binding protein 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:44,827,908...44,910,265
Ensembl chr18:44,827,095...44,910,235
G
TBL2
transducin beta like 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:10,850,347...10,892,441
Ensembl chr 3:10,876,973...10,892,404
G
TBRG4
transforming growth factor beta regulator 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:50,366,896...50,378,086
Ensembl chr18:50,365,988...50,378,084
G
TBX20
T-box transcription factor 20
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:38,635,603...38,681,690
Ensembl chr18:38,635,617...38,678,133
G
TBXAS1
thromboxane A synthase 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:9,717,291...9,886,699
Ensembl chr18:9,717,294...9,886,681
G
TECPR1
tectonin beta-propeller repeat containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:5,414,071...5,442,953
Ensembl chr 3:5,414,074...5,442,943
G
TES
testin LIM domain protein
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:29,895,878...29,936,248
Ensembl chr18:29,895,882...29,936,233
G
TEX47
testis expressed 47
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:69,016,462...69,019,241
Ensembl chr 9:69,018,248...69,019,009
G
TFEC
transcription factor EC
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:29,980,394...30,260,226
Ensembl chr18:30,122,494...30,175,484
G
TFPI2
tissue factor pathway inhibitor 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:73,684,236...73,694,663
Ensembl chr 9:73,673,535...73,689,095
G
TFR2
transferrin receptor 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,539,316...8,553,993
Ensembl chr 3:8,539,320...8,578,763
G
TFR2
transferrin receptor 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,554,322...8,568,774
Ensembl chr 3:8,539,320...8,578,763
G
THAP5
THAP domain containing 5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:36,584,359...36,592,255
Ensembl chr18:36,584,373...36,592,252
G
TMED4
transmembrane p24 trafficking protein 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:50,698,819...50,702,333
Ensembl chr18:50,699,470...50,702,705
G
TMEM106B
transmembrane protein 106B
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:81,837,654...81,864,215
Ensembl chr 9:81,837,667...81,864,210
G
TMEM120A
transmembrane protein 120A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:10,206,581...10,212,612
Ensembl chr 3:10,206,630...10,212,610
G
TMEM130
transmembrane protein 130
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:5,887,025...5,904,524
Ensembl chr 3:5,887,033...5,903,747
G
TMEM140
transmembrane protein 140
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:14,133,371...14,148,619
Ensembl chr18:14,133,374...14,148,618
G
TMEM168
transmembrane protein 168
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:32,928,104...32,960,884
Ensembl chr18:32,927,748...32,957,960
G
TMEM196
transmembrane protein 196
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:88,798,095...88,858,270
Ensembl chr 9:88,798,831...88,858,006
G
TMEM209
transmembrane protein 209
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:18,615,258...18,644,708
Ensembl chr18:18,615,258...18,644,708
G
TMEM213
transmembrane protein 213
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:10,862,193...10,868,584
Ensembl chr18:10,862,206...10,868,435
G
TMEM229A
transmembrane protein 229A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:23,531,498...23,533,619
Ensembl chr18:23,531,536...23,532,648
G
TMEM243
transmembrane protein 243
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:93,393,695...93,416,634
Ensembl chr 9:93,393,722...93,416,627
G
TMEM248
transmembrane protein 248
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:16,253,018...16,296,796
Ensembl chr 3:16,253,022...16,280,465
G
TMEM270
transmembrane protein 270
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:11,059,177...11,079,858
Ensembl chr 3:11,075,901...11,078,442
G
TMEM60
transmembrane protein 60
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:102,349,033...102,354,642
Ensembl chr 9:102,349,019...102,354,640
G
TNPO3
transportin 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:19,572,555...19,673,165
Ensembl chr18:19,572,776...19,673,163
G
TNS3
tensin 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:48,960,938...49,192,434
Ensembl chr18:48,997,217...49,192,433
G
TOMM7
translocase of outer mitochondrial membrane 7
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:91,570,069...91,578,991
Ensembl chr 9:91,570,065...91,579,015
G
TP53
tumor protein p53
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:1349175 PMID:1565143 PMID:1565144 PMID:1631137 PMID:8401536 PMID:8402598 PMID:8425176 PMID:8718514 PMID:8829627 PMID:11370630 PMID:11782540 PMID:12826609 PMID:15958617 PMID:16206219 PMID:16818505 PMID:17015838 PMID:17606709 PMID:19012332 PMID:19468865 PMID:20407015 PMID:21059199 PMID:21305319 PMID:21343334 PMID:21519010 PMID:21761402 PMID:22186996 PMID:22672556 PMID:22915647 PMID:23161690 PMID:23246812 PMID:24573247 PMID:24857548 PMID:25186627 PMID:25584008 PMID:25619955 PMID:25741868 PMID:25952993 PMID:26014290 PMID:26230955 PMID:26585234 PMID:26619011 PMID:26845104 PMID:26878390 PMID:26911350 PMID:27077130 PMID:27276561 PMID:27463065 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28369373 PMID:28472496 PMID:28492532 PMID:28975465 PMID:29581140 PMID:29979965 PMID:30224644 PMID:30327374 PMID:30709381 PMID:30816478 PMID:32000721 PMID:32475984 PMID:33407742 More...
NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818
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TPST1
tyrosylprotein sulfotransferase 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:16,407,607...16,525,788
Ensembl chr 3:16,407,609...16,585,485
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TRA2A
transformer 2 alpha homolog
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:92,299,171...92,323,789
Ensembl chr 9:92,294,917...92,323,794
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TRAPPC14
trafficking protein particle complex subunit 14
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,158,062...8,162,738
Ensembl chr 3:8,158,070...8,162,425
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TRIL
TLR4 interactor with leucine rich repeats
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:43,725,910...43,833,993
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TRIM24
tripartite motif containing 24
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:11,055,211...11,151,755
Ensembl chr18:11,055,213...11,151,404
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TRIM4
tripartite motif containing 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:7,815,188...7,837,587
Ensembl chr 3:7,815,725...7,837,546
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TRIM50
tripartite motif containing 50
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:10,647,690...10,655,345
Ensembl chr 3:10,647,690...10,656,417
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TRIM56
tripartite motif containing 56
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,834,260...8,842,524
Ensembl chr 3:8,834,274...8,839,415
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TRIP6
thyroid hormone receptor interactor 6
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,713,221...8,716,891
Ensembl chr 3:8,713,215...8,716,871
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TRRAP
transformation/transcription domain associated protein
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:5,903,205...6,029,343
Ensembl chr 3:5,909,022...6,029,333
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TSC1
TSC complex subunit 1
ISO
mRNA:decreased expression:brain
RGD
PMID:16909113
RGD:11570509
NCBI chr 1:272,636,530...272,685,948
Ensembl chr 1:272,636,532...272,685,951
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TSGA13
testis specific 13
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:18,190,893...18,209,077
Ensembl chr18:18,191,271...18,209,259
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TSPAN12
tetraspanin 12
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:26,046,645...26,112,924
Ensembl chr18:26,046,703...26,112,918
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TSPAN13
tetraspanin 13
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:85,996,381...86,033,358
Ensembl chr 9:85,996,641...86,033,349
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TSPAN33
tetraspanin 33
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:19,493,610...19,514,361
Ensembl chr18:19,493,613...19,514,361
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TWIST1
twist family bHLH transcription factor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:88,286,911...88,290,131
Ensembl chr 9:88,289,407...88,290,015
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TYW1
tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:15,969,573...16,160,652
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UBE2D4
ubiquitin conjugating enzyme E2 D4 (putative)
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:48,735,258...48,756,314
Ensembl chr18:48,733,395...48,756,291
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UBE2H
ubiquitin conjugating enzyme E2 H
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:18,819,612...18,932,909
Ensembl chr18:18,819,641...18,932,904
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UBN2
ubinuclein 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:10,371,121...10,451,243
Ensembl chr18:10,377,077...10,451,255
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UFSP1
UFM1 specific peptidase 1 (inactive)
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,731,271...8,732,289
Ensembl chr 3:8,731,277...8,732,278
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UPK3BL2
uroplakin 3B like 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:9,847,585...9,871,319
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UPP1
uridine phosphorylase 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:48,418,385...48,440,414
Ensembl chr18:48,418,385...48,440,736
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URGCP
upregulator of cell proliferation
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:48,780,521...48,817,058
Ensembl chr18:48,780,576...48,821,582
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VGF
VGF nerve growth factor inducible
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,888,502...8,891,399
Ensembl chr 3:8,888,506...8,891,601
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VKORC1L1
vitamin K epoxide reductase complex subunit 1 like 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:16,691,143...16,764,097
Ensembl chr 3:16,688,898...16,764,251
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VOPP1
VOPP1 WW domain binding protein
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:48,607,923...48,693,858
Ensembl chr18:48,607,919...48,693,815
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VPS37D
VPS37D subunit of ESCRT-I
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:10,947,403...10,951,271
Ensembl chr 3:10,947,403...10,951,273
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VPS41
VPS41 subunit of HOPS complex
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:55,293,655...55,466,628
Ensembl chr18:55,301,624...55,466,628
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VPS50
VPS50 subunit of EARP/GARPII complex
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:73,074,878...73,215,833
Ensembl chr 9:73,074,906...73,217,053
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VSTM2A
V-set and transmembrane domain containing 2A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:138,990,480...139,017,965
Ensembl chr 9:138,990,480...138,997,131
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VWC2
von Willebrand factor C domain containing 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:135,982,814...136,083,069
Ensembl chr 9:135,982,227...136,083,616
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VWDE
von Willebrand factor D and EGF domains
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:81,916,966...81,987,106
Ensembl chr 9:81,916,966...81,986,831
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WASL
WASP like actin nucleation promoting factor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:23,722,188...23,789,516
Ensembl chr18:23,722,188...23,789,506
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WDR91
WD repeat domain 91
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:14,092,265...14,124,127
Ensembl chr18:14,092,322...14,126,475
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WIPF3
WAS/WASL interacting protein family member 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:42,991,495...43,025,177
Ensembl chr18:42,991,498...43,071,266
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WNT16
Wnt family member 16
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:25,621,802...25,633,730
Ensembl chr18:25,621,794...25,633,731
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WNT2
Wnt family member 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:28,945,825...28,993,969
Ensembl chr18:28,946,326...28,993,961
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YAE1
YAE1 maturation factor of ABCE1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:54,656,517...54,663,207
Ensembl chr18:54,658,701...54,663,198
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YKT6
YKT6 v-SNARE homolog
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:50,961,451...50,971,384
Ensembl chr18:50,960,113...50,971,384
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YWHAG
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:9,994,802...10,023,296
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ZAN
zonadhesin
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,638,422...8,668,881
Ensembl chr 3:8,632,701...8,668,880
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ZC3HAV1
zinc finger CCCH-type containing, antiviral 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:10,529,805...10,588,913
Ensembl chr18:10,531,897...10,588,832
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ZC3HAV1L
zinc finger CCCH-type containing, antiviral 1 like
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:10,592,544...10,612,414
Ensembl chr18:10,593,184...10,611,031
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ZC3HC1
zinc finger C3HC-type containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:18,740,817...18,761,515
Ensembl chr18:18,740,845...18,761,718
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ZCWPW1
zinc finger CW-type and PWWP domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,318,683...8,356,195
Ensembl chr 3:8,323,191...8,358,487
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ZKSCAN1
zinc finger with KRAB and SCAN domains 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:7,920,640...7,959,462
Ensembl chr 3:7,920,675...7,942,498
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ZKSCAN5
zinc finger with KRAB and SCAN domains 5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:6,442,315...6,464,718
Ensembl chr 3:6,442,391...6,466,430
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ZMIZ2
zinc finger MIZ-type containing 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:50,579,650...50,598,921
Ensembl chr18:50,579,655...50,598,562
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ZNF277
zinc finger protein 277
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:33,309,936...33,423,106
Ensembl chr18:33,311,321...33,423,795
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ZNF3
zinc finger protein 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:7,971,917...7,982,693
Ensembl chr 3:7,971,922...7,982,668
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ZNF655
zinc finger protein 655
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:6,504,699...6,521,051
Ensembl chr 3:6,504,690...6,521,844
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ZNF713
zinc finger protein 713
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:16,957,875...16,983,838
Ensembl chr 3:16,958,562...16,983,693
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ZNF789
zinc finger protein 789
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:6,468,709...6,481,537
Ensembl chr 3:6,471,470...6,481,392
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ZNF800
zinc finger protein 800
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:20,834,519...20,858,614
Ensembl chr18:20,834,506...20,856,933
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ZNF804B
zinc finger protein 804B
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:68,983,529...69,500,385
Ensembl chr 9:68,983,827...69,497,001
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ZNHIT1
zinc finger HIT-type containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:8,918,873...8,926,595
Ensembl chr 3:8,918,872...8,926,589
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ZNRF2
zinc and ring finger 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr18:42,550,571...42,651,914
Ensembl chr18:42,549,846...42,651,807
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ZP3
zona pellucida glycoprotein 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:9,934,760...9,944,924
Ensembl chr 3:9,934,761...9,944,941
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ZPBP
zona pellucida binding protein
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 9:136,105,129...136,186,744
Ensembl chr 9:136,105,129...136,186,744
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ZSCAN25
zinc finger and SCAN domain containing 25
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:6,563,495...6,583,370
Ensembl chr 3:6,569,304...6,579,150
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PVR
PVR cell adhesion molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3020560 PMID:28446605
NCBI chr 6:51,161,320...51,178,464
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ACAN
aggrecan
ISO
RGD
PMID:9192671
RGD:1300269
NCBI chr 7:54,449,830...54,520,606
Ensembl chr 7:54,449,816...54,519,194
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DARS2
aspartyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Sensorimotor neuropathy
ClinVar
PMID:16199547 PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 PMID:23652419 PMID:24005482 PMID:24407472 PMID:24566671 PMID:25525159 PMID:25741868 PMID:28492532 PMID:31589614 PMID:33977142 PMID:34426522 PMID:35379322 More...
NCBI chr 9:116,109,970...116,140,635
Ensembl chr 9:116,109,986...116,140,627
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DNM2
dynamin 2
ISO
ClinVar Annotator: match by term: Sensorimotor neuropathy
ClinVar
PMID:17636067 PMID:25741868 PMID:28492532 PMID:30373780 PMID:35993408
NCBI chr 2:69,474,011...69,574,427
Ensembl chr 2:69,474,031...69,574,424
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LOC100623720
collagen alpha-1(VI) chain
ISO
ClinVar Annotator: match by term: Sensorimotor neuropathy
ClinVar
PMID:10419498 PMID:12840783 PMID:15955946 PMID:16199547 PMID:17886299 PMID:18366090 PMID:20301676 PMID:20976770 PMID:21280092 PMID:24271325 PMID:25741868 PMID:25749816 PMID:28492532 PMID:29419890 More...
NCBI chr13:208,295,245...208,321,789
Ensembl chr13:208,295,451...208,313,127
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MPZ
myelin protein zero
ISO
ClinVar Annotator: match by term: Sensorimotor neuropathy
ClinVar
PMID:25741868
NCBI chr 4:89,174,107...89,179,556
Ensembl chr 4:89,169,311...89,179,925
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NKX2-1
NK2 homeobox 1
ISO
ClinVar Annotator: match by term: Hereditary ataxia
ClinVar
PMID:24453141 PMID:25741868 PMID:29109906
NCBI chr 7:63,487,200...63,491,580
Ensembl chr 7:63,487,807...63,491,575
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PRKCG
protein kinase C gamma
ISO
ClinVar Annotator: match by term: Hereditary ataxia
ClinVar
PMID:25741868
NCBI chr 6:56,213,479...56,235,683
Ensembl chr 6:56,213,480...56,234,210
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SACS
sacsin molecular chaperone
ISO
ClinVar Annotator: match by term: Hereditary ataxia
ClinVar
PMID:19892370 PMID:23250129 PMID:23280630 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29945973 PMID:30866998 PMID:30901567 PMID:35326432 More...
NCBI chr11:2,382,406...2,455,756
Ensembl chr11:2,382,906...2,442,316
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SIL1
SIL1 nucleotide exchange factor
ISO
OMIM
NCBI chr 2:140,884,170...141,118,201
Ensembl chr 2:140,878,070...141,118,059
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SPG7
SPG7 matrix AAA peptidase subunit, paraplegin
ISO
ClinVar Annotator: match by term: Sensorimotor neuropathy
ClinVar
PMID:11222789 PMID:14985266 PMID:16534102 PMID:17661097 PMID:18200586 PMID:18799786 PMID:20186691 PMID:21623769 PMID:22571692 PMID:22964162 PMID:23065789 PMID:23269439 PMID:23733235 PMID:24033266 PMID:24727571 PMID:25497598 PMID:25681447 PMID:25741868 PMID:26467025 PMID:26506339 PMID:26626314 PMID:27084228 PMID:27165006 PMID:27957547 PMID:28362824 PMID:28444220 PMID:28492532 PMID:28832565 PMID:29026558 PMID:29057857 PMID:29246844 PMID:29915382 PMID:30098094 PMID:30537300 PMID:32581362 PMID:32973427 More...
NCBI chr 6:414,930...439,206
Ensembl chr 6:414,932...439,212
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SPTLC1
serine palmitoyltransferase long chain base subunit 1
ISO
ClinVar Annotator: match by term: Sensorimotor neuropathy
ClinVar
PMID:11242106 PMID:11242114 PMID:11479835 PMID:14152213 PMID:14990347 PMID:15546589 PMID:16210380 PMID:16364956 PMID:18018475 PMID:19132419 PMID:19923297 PMID:20301564 PMID:20504773 PMID:22302274 PMID:25741868 PMID:26681808 PMID:28492532 PMID:32581362 More...
NCBI chr14:3,081,964...3,138,113
Ensembl chr14:3,081,972...3,138,103
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CDC42BPA
CDC42 binding protein kinase alpha
ISO
ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4
ClinVar
PMID:24164873
NCBI chr10:14,649,278...14,940,988
Ensembl chr10:14,652,855...14,940,825
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COQ8A
coenzyme Q8A
ISO
ClinVar Annotator: match by term: COQ8A-related condition | ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 4 | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 9
OMIM ClinVar
PMID:9536098 PMID:12682339 PMID:15326254 PMID:16199547 PMID:17576681 PMID:18319072 PMID:18319074 PMID:18414213 PMID:19440741 PMID:20495179 PMID:20580948 PMID:21873089 PMID:22036850 PMID:24033266 PMID:24048965 PMID:24164873 PMID:24218524 PMID:25131622 PMID:25280894 PMID:25356970 PMID:25498144 PMID:25525159 PMID:25558065 PMID:25741868 PMID:26467025 PMID:26640698 PMID:26757139 PMID:27106809 PMID:27142713 PMID:27848944 PMID:28492532 PMID:29159460 PMID:29255295 PMID:29482223 PMID:29915382 PMID:30548255 PMID:30637285 PMID:30850373 PMID:30968303 PMID:31589614 PMID:31621627 PMID:31890231 PMID:32337771 PMID:32637629 PMID:32685350 PMID:32743982 PMID:32771712 PMID:32830305 PMID:32961396 PMID:33098801 PMID:33622667 PMID:33949708 PMID:34445196 PMID:34663476 PMID:34712575 More...
NCBI chr10:14,597,237...14,643,394
Ensembl chr10:14,596,599...14,643,772
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B3GALNT2
beta-1,3-N-acetylgalactosaminyltransferase 2
ISO
ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy
ClinVar
PMID:25741868
NCBI chr14:55,749,409...55,818,738
Ensembl chr14:55,749,473...55,818,004
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TBCE
tubulin folding cofactor E
ISO
ClinVar Annotator: match by term: Encephalopathy, progressive, with amyotrophy and optic atrophy
OMIM ClinVar
PMID:25741868 PMID:27666369 PMID:28492532 PMID:34134906 PMID:34356170
NCBI chr14:55,816,663...55,901,215
Ensembl chr14:55,816,668...55,901,171
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CAPN3
calpain 3
ISO
ClinVar Annotator: match by term: Progressive spinal muscular atrophy
ClinVar
PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 PMID:14981715 PMID:15221789 PMID:15351423 PMID:15689361 PMID:15725583 PMID:16100770 PMID:16141003 PMID:16372320 PMID:16411092 PMID:16650086 PMID:17157502 PMID:17236769 PMID:17318636 PMID:17702496 PMID:17979987 PMID:18055493 PMID:20635405 PMID:21204801 PMID:21984748 PMID:24803842 PMID:25135358 PMID:25741868 PMID:26301378 PMID:26404900 PMID:26467025 PMID:26484845 PMID:27142102 PMID:27708273 PMID:27884173 PMID:28492532 PMID:28877744 PMID:28914264 PMID:30028523 PMID:30919934 PMID:31263448 PMID:31517061 PMID:31788660 More...
NCBI chr 1:128,960,117...129,013,508
Ensembl chr 1:128,960,118...129,013,546
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TRPV4
transient receptor potential cation channel subfamily V member 4
ISO
ClinVar Annotator: match by term: Amyotrophy, neurogenic scapuloperoneal, New England type | ClinVar Annotator: match by term: Scapuloperoneal Form of Spinal Muscular Atrophy | ClinVar Annotator: match by term: Scapuloperoneal spinal muscular atrophy
OMIM ClinVar
PMID:1520078 PMID:4056805 PMID:8179305 PMID:15668982 PMID:19661060 PMID:19666518 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20425821 PMID:20460441 PMID:20503319 PMID:20577006 PMID:21115951 PMID:21288981 PMID:21336783 PMID:21454511 PMID:21573172 PMID:21964574 PMID:22065612 PMID:22419508 PMID:22689196 PMID:22702953 PMID:22851605 PMID:24319099 PMID:24575025 PMID:24789864 PMID:24963089 PMID:25256292 PMID:25326637 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26170305 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27751652 PMID:28251916 PMID:28492532 PMID:28898540 PMID:29858556 PMID:30230566 PMID:30373780 PMID:31041394 PMID:31191204 PMID:31468327 PMID:31475037 PMID:32376792 PMID:32579787 PMID:34529350 More...
NCBI chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,578
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ABCA3
ATP binding cassette subfamily A member 3
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,689,133...39,732,466
Ensembl chr 3:39,698,895...39,732,978
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ADCY9
adenylate cyclase 9
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:38,117,211...38,303,600
Ensembl chr 3:38,103,923...38,303,538
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AMDHD2
amidohydrolase domain containing 2
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,523,076...39,532,590
Ensembl chr 3:39,522,163...39,532,995
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ANKS3
ankyrin repeat and sterile alpha motif domain containing 3
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:37,664,182...37,689,502
Ensembl chr 3:37,650,256...37,689,500
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ANTKMT
adenine nucleotide translocase lysine methyltransferase
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:41,057,727...41,059,309
Ensembl chr 3:41,057,649...41,062,032
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ARHGDIG
Rho GDP dissociation inhibitor gamma
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:41,397,640...41,402,095
Ensembl chr 3:41,397,643...41,400,241
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ATP6V0C
ATPase H+ transporting V0 subunit c
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,532,707...39,538,704
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AXIN1
axin 1
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:41,344,908...41,393,999
Ensembl chr 3:41,337,071...41,393,997
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BAIAP3
BAI1 associated protein 3
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:40,536,557...40,550,508
Ensembl chr 3:40,537,399...40,550,471
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BICDL2
BICD family like cargo adaptor 2
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,153,521...39,161,415
Ensembl chr 3:39,153,552...39,161,442
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BRICD5
BRICHOS domain containing 5
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,780,707...39,782,478
Ensembl chr 3:39,780,940...39,782,466
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C1QTNF8
C1q and TNF related 8
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:40,748,457...40,749,884
Ensembl chr 3:40,748,457...40,749,884
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C3H16orf90
chromosome 3 C16orf90 homolog
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:38,753,455...38,761,881
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C3H16orf96
chromosome 3 C16orf96 homolog
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:37,765,914...37,801,366
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CACNA1H
calcium voltage-gated channel subunit alpha1 H
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:40,637,420...40,694,616
Ensembl chr 3:40,637,427...40,695,177
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CAPN15
calpain 15
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:41,190,626...41,208,657
Ensembl chr 3:41,190,830...41,208,653
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CASKIN1
CASK interacting protein 1
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,794,400...39,811,381
Ensembl chr 3:39,794,293...39,811,009
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CCDC154
coiled-coil domain containing 154
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:40,420,339...40,429,787
Ensembl chr 3:40,422,892...40,429,844
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CCDC78
coiled-coil domain containing 78
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:41,053,926...41,057,735
Ensembl chr 3:41,053,936...41,057,734
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CCNF
cyclin F
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,585,597...39,603,088
Ensembl chr 3:39,585,607...39,603,079
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CDIP1
cell death inducing p53 target 1
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:37,815,259...37,839,266
Ensembl chr 3:37,815,710...37,839,009
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CHTF18
chromosome transmission fidelity factor 18
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:41,000,688...41,009,588
Ensembl chr 3:41,000,690...41,009,589
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CIAO3
cytosolic iron-sulfur assembly component 3
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:41,042,672...41,050,013
Ensembl chr 3:41,042,702...41,050,012
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CLCN7
chloride voltage-gated channel 7
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:40,397,807...40,420,960
Ensembl chr 3:40,399,639...40,420,957
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CLDN6
claudin 6
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,168,506...39,172,631
Ensembl chr 3:39,167,853...39,172,628
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CLDN9
claudin 9
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,172,731...39,181,827
Ensembl chr 3:39,172,853...39,174,354
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CLUAP1
clusterin associated protein 1
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:38,716,562...38,753,743
Ensembl chr 3:38,716,431...38,753,748
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CRAMP1
cramped chromatin regulator homolog 1
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:40,257,677...40,308,034
Ensembl chr 3:40,257,685...40,308,089
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CREBBP
CREB binding protein
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,224
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DECR2
2,4-dienoyl-CoA reductase 2
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:41,291,038...41,304,044
Ensembl chr 3:41,295,648...41,304,032
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DNAAF8
dynein axonemal assembly factor 8
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:37,652,535...37,665,497
Ensembl chr 3:37,652,539...37,665,474
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DNAJA3
DnaJ heat shock protein family (Hsp40) member A3
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:37,883,233...37,919,141
Ensembl chr 3:37,883,244...37,919,324
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DNASE1
deoxyribonuclease 1
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:38,590,045...38,646,852
Ensembl chr 3:38,586,602...38,646,833
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DNASE1L2
deoxyribonuclease 1 like 2
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,757,725...39,761,497
Ensembl chr 3:39,757,296...39,761,080
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E4F1
E4F transcription factor 1
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,757,679...39,773,024
Ensembl chr 3:39,761,356...39,772,262
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ECI1
enoyl-CoA delta isomerase 1
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,750,742...39,758,516
Ensembl chr 3:39,750,742...39,758,516
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ELOB
elongin B
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,294,099...39,298,192
Ensembl chr 3:39,293,746...39,298,097
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EME2
essential meiotic structure-specific endonuclease subunit 2
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:40,190,545...40,193,994
Ensembl chr 3:40,186,846...40,193,957
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FAHD1
fumarylacetoacetate hydrolase domain containing 1
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr14:121,538,308...121,539,037
Ensembl chr 3:40,141,132...40,141,806
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FAM234A
family with sequence similarity 234 member A
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:41,411,786...41,437,249
Ensembl chr 3:41,410,818...41,437,203
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FBXL16
F-box and leucine rich repeat protein 16
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:41,071,783...41,083,653
Ensembl chr 3:41,071,823...41,083,644
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FLYWCH1
FLYWCH-type zinc finger 1
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,223,885...39,244,743
Ensembl chr 3:39,225,365...39,242,675
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FLYWCH2
FLYWCH family member 2
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,251,487...39,261,937
Ensembl chr 3:39,251,491...39,255,803
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GFER
growth factor, augmenter of liver regeneration
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,981,938...39,984,451
Ensembl chr 3:39,981,940...39,984,991
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GLIS2
GLIS family zinc finger 2
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:37,998,072...38,018,726
Ensembl chr 3:37,998,078...38,009,024
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GNG13
G protein subunit gamma 13
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:40,997,556...41,000,718
Ensembl chr 3:40,998,504...41,000,905
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GNPTG
N-acetylglucosamine-1-phosphate transferase subunit gamma
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:40,512,093...40,534,217
Ensembl chr 3:40,512,088...40,534,187
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HAGH
hydroxyacylglutathione hydrolase
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:40,139,099...40,162,921
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HAGHL
hydroxyacylglutathione hydrolase like
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:41,050,047...41,053,797
Ensembl chr 3:41,046,171...41,053,464
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HCFC1R1
host cell factor C1 regulator 1
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,164,375...39,166,051
Ensembl chr 3:39,164,375...39,166,049
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HMOX2
heme oxygenase 2
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:37,829,044...37,868,163
Ensembl chr 3:37,831,439...37,868,128
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HS3ST6
heparan sulfate-glucosamine 3-sulfotransferase 6
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:40,029,927...40,038,803
Ensembl chr 3:40,032,464...40,038,870
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IFT140
intraflagellar transport 140
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome | ClinVar Annotator: match by term: Short-rib thoracic dysplasia without polydactyly
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:24183451 PMID:24698627 PMID:25640679 PMID:25741868 PMID:25741914 PMID:26216056 PMID:26359340 PMID:26766544 PMID:26968735 PMID:27058611 PMID:27874174 PMID:28041643 PMID:28288023 PMID:28492532 PMID:28512305 PMID:28559085 PMID:28724397 PMID:28844315 PMID:28991257 PMID:29068549 PMID:29111861 PMID:29688594 PMID:29706353 PMID:29758562 PMID:29801666 PMID:30479745 PMID:30773290 PMID:30902645 PMID:31047384 PMID:31054281 PMID:31130284 PMID:31213501 PMID:31456290 PMID:31630094 PMID:31736247 PMID:31980526 PMID:32037395 PMID:32531858 PMID:32860008 PMID:32901917 PMID:33452237 PMID:33532864 PMID:33576794 PMID:33946315 PMID:34217267 PMID:34429528 PMID:34890546 PMID:34906470 PMID:36460718 More...
NCBI chr 3:40,309,298...40,372,139
Ensembl chr 3:40,309,635...40,372,135
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IGFALS
insulin like growth factor binding protein acid labile subunit
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:40,173,595...40,177,789
Ensembl chr 3:40,174,764...40,177,784
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JMJD8
jumonji domain containing 8
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:41,090,787...41,093,620
Ensembl chr 3:41,090,788...41,093,614
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JPT2
Jupiter microtubule associated homolog 2
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:40,245,473...40,256,960
Ensembl chr 3:40,244,011...40,256,980
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KCTD5
potassium channel tetramerization domain containing 5
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,403,985...39,429,608
Ensembl chr 3:39,403,987...39,429,588
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KREMEN2
kringle containing transmembrane protein 2
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,214,251...39,218,805
Ensembl chr 3:39,214,248...39,218,776
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LMF1
lipase maturation factor 1
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:40,841,242...40,929,163
Ensembl chr 3:40,835,413...40,934,253
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LOC100513346
mitochondrial import inner membrane translocase subunit TIM16
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:37,928,098...38,005,619
Ensembl chr 3:37,928,096...37,985,151
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LOC100516428
olfactory receptor 2C1
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:38,831,184...38,834,678
Ensembl chr 3:38,832,911...38,833,849
G
LOC100516963
olfactory receptor 1361
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:38,999,900...39,007,156
Ensembl chr 3:39,001,044...39,001,988
G
LOC100517149
zinc finger protein 75A
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:38,867,998...38,893,678
Ensembl chr 3:38,825,782...38,893,681
G
LOC100524016
mesothelin
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:41,025,892...41,029,302
G
LOC110256121
serine protease 33-like
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr12:60,158,818...60,162,073
G
LUC7L
LUC7 like
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:41,442,127...41,473,115
Ensembl chr 3:41,449,002...41,470,977
G
MAPK8IP3
mitogen-activated protein kinase 8 interacting protein 3
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:40,196,873...40,241,453
Ensembl chr 3:40,196,875...40,241,291
G
MCRIP2
MAPK regulated corepressor interacting protein 2
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:41,123,037...41,133,463
Ensembl chr 3:41,123,048...41,127,917
G
MCT7
tryptase
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:40,616,642...40,619,148
G
MEFV
MEFV innate immunity regulator, pyrin
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:38,934,573...38,948,609
G
MEIOB
meiosis specific with OB-fold
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:40,092,689...40,133,173
Ensembl chr 3:40,092,530...40,133,171
G
METRN
meteorin, glial cell differentiation regulator
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:41,053,722...41,064,315
Ensembl chr 3:41,061,225...41,064,391
G
METTL26
methyltransferase like 26
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:41,134,246...41,135,880
Ensembl chr 3:41,134,246...41,141,353
G
MGRN1
mahogunin ring finger 1
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:37,694,798...37,748,106
Ensembl chr 3:37,694,808...37,748,067
G
MLST8
MTOR associated protein, LST8 homolog
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,778,746...39,786,206
Ensembl chr 3:39,778,754...39,788,285
G
MMP25
matrix metallopeptidase 25
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,129,452...39,143,621
Ensembl chr 3:39,130,777...39,142,303
G
MRPL28
mitochondrial ribosomal protein L28
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:41,330,412...41,333,520
Ensembl chr 3:41,329,928...41,334,451
G
MRPS34
mitochondrial ribosomal protein S34
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:40,194,078...40,195,316
Ensembl chr 3:40,193,033...40,195,018
G
MSRB1
methionine sulfoxide reductase B1
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:40,017,161...40,021,736
Ensembl chr 3:40,017,194...40,028,047
G
NAA60
N-alpha-acetyltransferase 60, NatF catalytic subunit
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:38,763,444...38,812,862
Ensembl chr 3:38,763,447...38,781,988
G
NDUFB10
NADH:ubiquinone oxidoreductase subunit B10
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:40,003,109...40,005,650
Ensembl chr 3:40,003,115...40,005,588
G
NHERF2
NHERF family PDZ scaffold protein 2
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,942,366...39,952,824
Ensembl chr 3:39,942,367...39,952,825
G
NLRC3
NLR family CARD domain containing 3
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:38,673,590...38,719,188
Ensembl chr 3:38,687,967...38,710,938
G
NME3
NME/NM23 nucleoside diphosphate kinase 3
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:40,195,456...40,197,121
Ensembl chr 3:40,195,635...40,196,869
G
NME4
NME/NM23 nucleoside diphosphate kinase 4
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:41,306,167...41,321,002
Ensembl chr 3:41,306,175...41,310,312
G
NMRAL1
NmrA like redox sensor 1
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:37,871,868...37,879,373
Ensembl chr 3:37,871,995...37,881,113
G
NOXO1
NADPH oxidase organizer 1
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,987,340...39,989,640
Ensembl chr 3:39,987,384...39,989,548
G
NPW
neuropeptide W
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,957,042...39,957,792
Ensembl chr 3:39,957,042...39,957,792
G
NTHL1
nth like DNA glycosylase 1
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,935,619...39,941,718
Ensembl chr 3:39,935,475...39,941,712
G
NTN3
netrin 3
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,572,430...39,575,717
Ensembl chr 3:39,572,531...39,575,170
G
NUBP2
NUBP iron-sulfur cluster assembly factor 2, cytosolic
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:40,178,417...40,184,646
Ensembl chr 3:40,178,417...40,186,551
G
NUDT16L1
nudix hydrolase 16 like 1
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:37,684,206...37,694,653
Ensembl chr 3:37,684,207...37,693,652
G
PAQR4
progestin and adipoQ receptor family member 4
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,206,077...39,213,324
G
PDIA2
protein disulfide isomerase family A member 2
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:41,394,267...41,397,547
Ensembl chr 3:41,394,058...41,397,687
G
PDPK1
3-phosphoinositide dependent protein kinase 1
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,429,928...39,512,623
Ensembl chr 3:39,432,058...39,512,601
G
PGAP6
post-GPI attachment to proteins 6
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:41,318,569...41,330,430
Ensembl chr 3:41,318,889...41,330,273
G
PGP
phosphoglycolate phosphatase
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,776,815...39,779,669
Ensembl chr 3:39,762,608...39,778,011
G
PIGQ
phosphatidylinositol glycan anchor biosynthesis class Q
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:41,164,399...41,177,453
Ensembl chr 3:41,160,657...41,176,318
G
PKD1
polycystin 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,849,579...39,899,455
Ensembl chr 3:39,849,609...39,899,455
G
PKMYT1
protein kinase, membrane associated tyrosine/threonine 1
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,201,819...39,209,261
Ensembl chr 3:39,201,878...39,210,125
G
PRR35
proline rich 35
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:41,180,809...41,187,916
Ensembl chr 3:41,180,800...41,185,921
G
PRSS21
serine protease 21
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,318,134...39,322,775
Ensembl chr 3:39,317,717...39,323,150
G
PRSS22
serine protease 22
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,365,798...39,376,909
Ensembl chr 3:39,365,803...39,380,476
G
PRSS27
serine protease 27
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,395,014...39,399,971
Ensembl chr 3:39,395,274...39,399,970
G
PRSS33
serine protease 33
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,301,919...39,304,996
Ensembl chr 3:39,302,369...39,307,433
G
PTX4
pentraxin 4
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 PMID:29688594 More...
NCBI chr 3:40,383,325...40,391,567
Ensembl chr 3:40,382,667...40,390,812
G
RAB11FIP3
RAB11 family interacting protein 3
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:41,211,683...41,284,998
Ensembl chr 3:41,211,684...41,285,502
G
RAB26
RAB26, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,831,981...39,837,510
Ensembl chr 3:39,831,981...39,837,515
G
RAB40C
RAB40C, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:41,140,557...41,160,101
Ensembl chr 3:41,140,561...41,160,077
G
RGS11
regulator of G protein signaling 11
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:41,402,345...41,410,813
Ensembl chr 3:41,402,316...41,410,868
G
RHBDL1
rhomboid like 1
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:41,096,881...41,099,582
Ensembl chr 3:41,096,884...41,099,587
G
RHOT2
ras homolog family member T2
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:41,100,876...41,106,370
Ensembl chr 3:41,100,879...41,106,418
G
RNF151
ring finger protein 151
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,997,651...40,000,782
Ensembl chr 3:39,997,647...39,999,748
G
RNPS1
RNA binding protein with serine rich domain 1
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,739,058...39,749,600
Ensembl chr 3:39,739,308...39,750,005
G
ROGDI
rogdi atypical leucine zipper
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:37,592,982...37,600,004
Ensembl chr 3:37,591,815...37,602,112
G
RPL3L
ribosomal protein L3 like
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:40,004,907...40,016,702
Ensembl chr 3:40,007,868...40,016,699
G
RPS2
ribosomal protein S2
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,996,179...40,003,110
Ensembl chr 3:40,001,326...40,003,107
G
RPUSD1
RNA pseudouridine synthase domain containing 1
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:41,009,722...41,013,013
Ensembl chr 3:41,009,717...41,013,018
G
SEPT12
septin 12
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:37,604,669...37,617,336
Ensembl chr 3:37,606,716...37,627,196
G
SLX4
SLX4 structure-specific endonuclease subunit
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:38,646,904...38,670,173
Ensembl chr 3:38,646,938...38,670,168
G
SMIM22
small integral membrane protein 22
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:37,599,574...37,601,316
Ensembl chr 3:37,599,576...37,601,086
G
SOX8
SRY-box transcription factor 8
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:40,825,151...40,830,085
Ensembl chr 3:40,825,157...40,830,736
G
SPSB3
splA/ryanodine receptor domain and SOCS box containing 3
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:40,184,534...40,190,519
Ensembl chr 3:40,185,014...40,190,518
G
SRL
sarcalumenin
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:38,073,379...38,111,936
Ensembl chr 3:38,073,562...38,111,932
G
SRRM2
serine/arginine repetitive matrix 2
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,275,274...39,293,741
Ensembl chr 3:39,275,288...39,293,747
G
SSTR5
somatostatin receptor 5
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:40,756,465...40,758,111
Ensembl chr 3:40,756,457...40,762,895
G
STUB1
STIP1 homology and U-box containing protein 1
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:41,092,514...41,095,181
Ensembl chr 3:41,092,449...41,095,136
G
SYNGR3
synaptogyrin 3
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,975,067...39,981,537
Ensembl chr 3:39,975,069...39,979,217
G
TBC1D24
TBC1 domain family member 24
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,545,688...39,572,320
Ensembl chr 3:39,545,218...39,571,277
G
TBL3
transducin beta like 3
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,989,739...39,996,138
Ensembl chr 3:39,989,740...39,995,123
G
TEDC2
tubulin epsilon and delta complex 2
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,580,181...39,584,414
Ensembl chr 3:39,580,199...39,584,380
G
TELO2
telomere maintenance 2
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 PMID:29688594 More...
NCBI chr 3:40,372,215...40,386,777
Ensembl chr 3:40,362,208...40,383,279
G
TFAP4
transcription factor AP-4
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:38,043,735...38,060,820
Ensembl chr 3:38,050,308...38,060,817
G
THOC6
THO complex subunit 6
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,161,442...39,164,631
Ensembl chr 3:39,161,434...39,164,707
G
TMEM204
transmembrane protein 204
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:25741868 PMID:26216056 PMID:28492532 More...
NCBI chr 3:40,342,957...40,355,887
Ensembl chr 3:40,342,961...40,355,726
G
TNFRSF12A
TNF receptor superfamily member 12A
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,166,288...39,168,294
Ensembl chr 3:39,166,298...39,168,302
G
TRAF7
TNF receptor associated factor 7
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,811,803...39,828,450
Ensembl chr 3:39,810,606...39,828,395
G
TRAP1
TNF receptor associated protein 1
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:38,536,710...38,595,273
Ensembl chr 3:38,536,668...38,603,015
G
TSC2
TSC complex subunit 2
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,925...39,937,371
G
TSR3
TSR3 ribosome maturation factor
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:40,534,222...40,536,773
Ensembl chr 3:40,534,222...40,536,766
G
UBALD1
UBA like domain containing 1
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:37,753,262...37,758,872
Ensembl chr 3:37,753,280...37,758,870
G
UBE2I
ubiquitin conjugating enzyme E2 I
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:40,556,556...40,586,382
G
UNKL
unk like zinc finger
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:40,444,997...40,513,050
Ensembl chr 3:40,445,034...40,513,047
G
UQCC4
ubiquinol-cytochrome c reductase complex assembly factor 4
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:40,439,419...40,441,209
Ensembl chr 3:40,440,051...40,441,281
G
VASN
vasorin
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:37,961,425...37,972,477
Ensembl chr 3:37,961,432...37,972,114
G
WDR19
WD repeat domain 19
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:25741868 PMID:33002628 PMID:33532864
NCBI chr 8:30,453,969...30,553,699
Ensembl chr 8:30,463,862...30,553,703
G
WDR24
WD repeat domain 24
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:41,085,415...41,090,628
Ensembl chr 3:41,085,463...41,090,610
G
WDR90
WD repeat domain 90
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:41,106,735...41,122,324
Ensembl chr 3:41,106,720...41,122,426
G
WFIKKN1
WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532 More...
NCBI chr 3:41,136,200...41,139,986
Ensembl chr 3:41,136,202...41,138,785
G
ZG16B
zymogen granule protein 16B
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,334,122...39,336,864
G
ZNF174
zinc finger protein 174
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:38,805,861...38,815,166
Ensembl chr 3:38,805,020...38,815,171
G
ZNF200
zinc finger protein 200
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:38,952,692...38,973,927
Ensembl chr 3:38,952,689...38,973,906
G
ZNF205
zinc finger protein 205
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,091,439...39,105,633
Ensembl chr 3:39,091,443...39,106,615
G
ZNF213
zinc finger protein 213
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,073,673...39,088,789
Ensembl chr 3:39,073,677...39,079,365
G
ZNF263
zinc finger protein 263
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:38,906,153...38,952,663
Ensembl chr 3:38,906,162...38,913,851
G
ZNF500
zinc finger protein 500
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:37,642,424...37,652,378
G
ZNF597
zinc finger protein 597
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:38,788,447...38,798,609
G
ZNF598
zinc finger protein 598, E3 ubiquitin ligase
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,962,896...39,972,659
Ensembl chr 3:39,962,988...39,972,656
G
ZSCAN10
zinc finger and SCAN domain containing 10
ISO
ClinVar Annotator: match by term: Saldino-Mainzer syndrome
ClinVar
PMID:28492532
NCBI chr 3:39,113,307...39,119,033
Ensembl chr 3:39,113,402...39,118,779
G
AFG3L2
AFG3 like matrix AAA peptidase subunit 2
onset
ISO
DNA:missense mutation:exon:p.Y616C (c.1847G>A) (human) ClinVar Annotator: match by term: Spastic ataxia
RGD ClinVar
PMID:22022284 PMID:25741868
RGD:11532672
NCBI chr 6:97,200,890...97,234,577
Ensembl chr 6:97,200,922...97,235,366
G
AHDC1
AT-hook DNA binding motif containing 1
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:84,735,253...84,774,554
G
AMACR
alpha-methylacyl-CoA racemase
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr16:20,005,741...20,023,339
Ensembl chr16:19,956,366...20,023,289
G
AMPD2
adenosine monophosphate deaminase 2
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr 4:110,493,490...110,505,123
Ensembl chr 4:110,493,492...110,505,138
G
APOB
apolipoprotein B
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:28492532 PMID:34445196
NCBI chr 3:117,250,096...117,316,200
Ensembl chr 3:117,250,096...117,316,200
G
ARSA
arylsulfatase A
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:1671769 PMID:7866401 PMID:10477432 PMID:12809637 PMID:16678723 PMID:17560502 PMID:19815439 PMID:20339381 PMID:24001781 PMID:25741868 PMID:26462614 PMID:28492532 More...
NCBI chr 5:107,103...110,330
Ensembl chr 5:107,149...111,518
G
ATP1A2
ATPase Na+/K+ transporting subunit alpha 2
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr 4:90,341,316...90,371,040
Ensembl chr 4:90,341,322...90,370,996
G
ATP2B3
ATPase plasma membrane Ca2+ transporting 3
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr X:124,318,874...124,357,653
Ensembl chr X:124,301,713...124,357,653
G
ATP7B
ATPase copper transporting beta
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:7626145 PMID:10441329 PMID:10544227 PMID:16283883 PMID:17317524 PMID:17949296 PMID:23518715 PMID:25741868 PMID:27398169 PMID:28492532 More...
NCBI chr11:15,892,549...15,942,070
Ensembl chr11:15,876,612...15,942,064
G
C6H19orf12
chromosome 6 C19orf12 homolog
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr 6:39,813,644...39,825,069
Ensembl chr 6:39,813,665...39,825,000
G
CACNA1A
calcium voltage-gated channel subunit alpha1 A
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:26467025
NCBI chr 2:65,491,784...65,871,068
Ensembl chr 2:65,514,509...65,871,182
G
CACNA1G
calcium voltage-gated channel subunit alpha1 G
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr12:26,838,633...26,912,344
Ensembl chr12:26,844,079...26,912,110
G
CACNB4
calcium voltage-gated channel auxiliary subunit beta 4
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr15:402,801...455,691
Ensembl chr15:186,434...459,856
G
CCDC88C
coiled-coil domain containing 88C
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr 7:112,917,436...113,030,442
Ensembl chr 7:112,917,534...113,045,682
G
CEP290
centrosomal protein 290
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:16909394 PMID:17345604 PMID:17564974 PMID:20690115 PMID:21602930 PMID:23027964 PMID:25741868 PMID:28492532 PMID:29398085 More...
NCBI chr 5:94,384,397...94,474,337
Ensembl chr 5:94,384,415...94,474,335
G
CLN6
CLN6 transmembrane ER protein
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr 1:166,107,895...166,126,054
Ensembl chr 1:166,107,228...166,126,808
G
COQ4
coenzyme Q4
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25658047 PMID:25741868 PMID:26185144 PMID:28492532 PMID:31967322 PMID:32718099 PMID:33704555 PMID:34440436 PMID:34445196 PMID:36047608 PMID:38013626 More...
NCBI chr 1:268,756,690...268,768,355
Ensembl chr 1:268,756,685...268,768,343
G
CYP7B1
cytochrome P450 family 7 subfamily B member 1
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr 4:69,615,953...69,793,131
Ensembl chr 4:69,616,049...69,806,496
G
DAB1
DAB adaptor protein 1
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr 6:154,156,595...155,374,403
Ensembl chr 6:154,936,460...155,374,399
G
DARS2
aspartyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr 9:116,109,970...116,140,635
Ensembl chr 9:116,109,986...116,140,627
G
DNMT1
DNA methyltransferase 1
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,566...69,029,844
G
ELOVL4
ELOVL fatty acid elongase 4
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr 1:86,163,845...86,196,036
Ensembl chr 1:86,163,868...86,195,987
G
ERCC4
ERCC excision repair 4, endonuclease catalytic subunit
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:9580660 PMID:23623389 PMID:25741868 PMID:28492532
NCBI chr 3:29,266,234...29,306,109
Ensembl chr 3:29,269,989...29,306,151
G
EXOSC8
exosome component 8
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr11:12,817,081...12,825,847
Ensembl chr11:12,817,110...12,825,843
G
FA2H
fatty acid 2-hydroxylase
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:28492532 PMID:34445196
NCBI chr 6:12,855,330...12,910,821
Ensembl chr 6:12,855,421...12,910,818
G
FAT2
FAT atypical cadherin 2
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr16:71,448,491...71,531,664
Ensembl chr16:71,469,847...71,530,501
G
FLNC
filamin C
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr18:19,759,734...19,787,616
Ensembl chr18:19,759,740...19,787,618
G
GALC
galactosylceramidase
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:26795590 PMID:27638593 PMID:28492532 PMID:30777126 PMID:32576985 PMID:34445196 More...
NCBI chr 7:109,894,576...109,961,407
Ensembl chr 7:109,894,578...109,961,413
G
GJC2
gap junction protein gamma 2
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:22833003 PMID:25059390 PMID:25741868 PMID:28492532 PMID:33190326 PMID:34445196 More...
NCBI chr 2:51,257,623...51,267,969
Ensembl chr 2:51,258,207...51,267,962
G
GLB1
galactosidase beta 1
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:8922281 PMID:10841810 PMID:15714521 PMID:18524657 PMID:21497194 PMID:25741868 PMID:28492532 More...
NCBI chr13:18,878,407...18,978,999
Ensembl chr13:18,878,612...18,953,146
G
HARS1
histidyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:28492532 PMID:32333447 PMID:34445196
NCBI chr 2:142,387,563...142,401,232
Ensembl chr 2:142,385,872...142,401,208
G
HPDL
4-hydroxyphenylpyruvate dioxygenase like
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:32707086 PMID:33970200
NCBI chr 6:166,012,590...166,015,051
Ensembl chr 6:166,012,601...166,014,323
G
ITPR1
inositol 1,4,5-trisphosphate receptor type 1
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:26467025
NCBI chr13:61,068,131...61,398,918
Ensembl chr13:61,068,126...61,398,912
G
KCNMA1
potassium calcium-activated channel subfamily M alpha 1
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr14:79,345,382...80,106,337
Ensembl chr14:79,352,005...80,106,295
G
KIF1A
kinesin family member 1A
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr15:139,610,624...139,694,841
Ensembl chr15:139,610,627...139,694,826
G
KIF1C
kinesin family member 1C
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
NCBI chr12:51,899,762...51,924,465
Ensembl chr12:51,897,494...51,924,432
G
LYST
lysosomal trafficking regulator
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:55,433,163...55,634,011
Ensembl chr14:55,433,597...55,633,484
G
MKS1
MKS transition zone complex subunit 1
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:34,499,139...34,512,191
Ensembl chr12:34,499,142...34,512,187
G
MTPAP
mitochondrial poly(A) polymerase
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr10:40,764,098...40,869,608
Ensembl chr10:40,764,396...40,789,061
G
PEX10
peroxisomal biogenesis factor 10
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:9683594 PMID:10862081 PMID:21031596 PMID:25741868 PMID:28492532
NCBI chr 6:64,311,743...64,317,693
G
PIK3R5
phosphoinositide-3-kinase regulatory subunit 5
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr12:53,979,206...54,046,927
Ensembl chr12:53,979,207...54,054,490
G
PLA2G6
phospholipase A2 group VI
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532
NCBI chr 5:9,713,809...9,777,921
Ensembl chr 5:9,713,873...9,777,918
G
PNPLA6
patatin like phospholipase domain containing 6
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:28492532 PMID:32579787
NCBI chr 2:71,577,165...71,602,756
Ensembl chr 2:71,577,168...71,602,777
G
PPT1
palmitoyl-protein thioesterase 1
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:12382155 PMID:16759889 PMID:19302939 PMID:21990111 PMID:23374165 PMID:25741868 PMID:28492532 PMID:28878621 More...
NCBI chr 6:95,840,906...95,860,858
Ensembl chr 6:95,840,908...95,860,858
G
PUM1
pumilio RNA binding family member 1
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr 6:87,546,388...87,687,483
Ensembl chr 6:87,547,320...87,687,442
G
SACS
sacsin molecular chaperone
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr11:2,382,406...2,455,756
Ensembl chr11:2,382,906...2,442,316
G
SCN2A
sodium voltage-gated channel alpha subunit 2
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr15:71,864,753...71,999,219
Ensembl chr15:71,864,784...71,999,211
G
SCN8A
sodium voltage-gated channel alpha subunit 8
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:16,977,468...17,173,831
Ensembl chr 5:16,977,700...17,169,543
G
SEPSECS
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:28492532 PMID:34445196
NCBI chr 8:19,097,788...19,162,246
Ensembl chr 8:19,097,456...19,136,222
G
SETX
senataxin
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:28708278
NCBI chr 1:272,093,449...272,170,857
Ensembl chr 1:272,095,358...272,170,747
G
SLC1A3
solute carrier family 1 member 3
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr16:21,873,691...21,965,315
Ensembl chr16:21,873,691...21,964,990
G
SLC25A46
solute carrier family 25 member 46
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:28492532 PMID:31847883 PMID:34445196
NCBI chr 2:115,529,662...115,555,441
Ensembl chr 2:115,529,704...115,555,440
G
SPAST
spastin
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:16055926 PMID:16240363 PMID:25741868 PMID:28492532 PMID:28572275 PMID:30476002 PMID:34445196 More...
NCBI chr 3:107,439,810...107,508,915
Ensembl chr 3:107,439,813...107,508,926
G
SPG11
SPG11 vesicle trafficking associated, spatacsin
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:126,890,464...126,998,014
Ensembl chr 1:126,902,186...127,003,397 Ensembl chr 1:126,902,186...127,003,397
G
SPG7
SPG7 matrix AAA peptidase subunit, paraplegin
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:11222789 PMID:14985266 PMID:16534102 PMID:17661097 PMID:18200586 PMID:18799786 PMID:20186691 PMID:21623769 PMID:22571692 PMID:22964162 PMID:23065789 PMID:23269439 PMID:23733235 PMID:24033266 PMID:24727571 PMID:25497598 PMID:25681447 PMID:25741868 PMID:26467025 PMID:26506339 PMID:26626314 PMID:27084228 PMID:27123479 PMID:27165006 PMID:27957547 PMID:28362824 PMID:28444220 PMID:28492532 PMID:28832565 PMID:29026558 PMID:29057857 PMID:29246844 PMID:29482223 PMID:29915382 PMID:30098094 PMID:30537300 PMID:32581362 PMID:32816195 PMID:32973427 More...
NCBI chr 6:414,930...439,206
Ensembl chr 6:414,932...439,212
G
SPTAN1
spectrin alpha, non-erythrocytic 1
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr 1:268,936,120...269,002,261
Ensembl chr 1:268,936,025...269,002,256
G
STXBP1
syntaxin binding protein 1
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:18414213 PMID:24781210 PMID:25356970 PMID:25741868 PMID:26795593 PMID:26865513 PMID:26993267 PMID:28492532 PMID:29264391 PMID:32643187 PMID:34445196 More...
NCBI chr 1:268,116,124...268,205,805
Ensembl chr 1:268,116,120...268,205,778
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SYNE1
spectrin repeat containing nuclear envelope protein 1
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:19542096 PMID:24319099 PMID:25741868 PMID:26467025 PMID:27086870 PMID:28492532 More...
NCBI chr 1:13,715,644...14,201,711
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SYNE2
spectrin repeat containing nuclear envelope protein 2
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:193,909,563...194,352,550
Ensembl chr 1:193,911,965...194,264,354
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TMEM67
transmembrane protein 67
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868
NCBI chr 4:42,878,249...42,931,106
Ensembl chr 4:42,879,140...42,931,121
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TTBK2
tau tubulin kinase 2
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:128,489,676...128,640,094
Ensembl chr 1:128,489,744...128,635,511
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WFS1
wolframin ER transmembrane glycoprotein
ISO
ClinVar Annotator: match by term: Spastic ataxia
ClinVar
PMID:12955714 PMID:15605410 PMID:17603484 PMID:18060660 PMID:20301750 PMID:20738327 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 PMID:33879153 PMID:34445196 More...
NCBI chr 8:4,362,678...4,405,185
Ensembl chr 8:4,362,680...4,385,273
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TAPBPL
TAP binding protein like
ISO
ClinVar Annotator: match by term: Spastic ataxia 1
ClinVar
PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 PMID:28492532 More...
NCBI chr 5:64,188,184...64,197,033
Ensembl chr 5:64,188,179...64,197,264
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VAMP1
vesicle associated membrane protein 1
ISO
ClinVar Annotator: match by term: Spastic ataxia 1
OMIM ClinVar
PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 PMID:28492532 More...
NCBI chr 5:64,181,496...64,188,275
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COQ4
coenzyme Q4
ISO
ClinVar Annotator: match by term: Spastic ataxia 10, autosomal recessive
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26185144 PMID:28492532 PMID:30659264 PMID:31396399 PMID:33704555 PMID:36047608 PMID:38013626 PMID:38014483 More...
NCBI chr 1:268,756,690...268,768,355
Ensembl chr 1:268,756,685...268,768,343
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CAMTA2
calmodulin binding transcription activator 2
ISO
ClinVar Annotator: match by term: Spastic ataxia 2
ClinVar
PMID:28492532
NCBI chr12:51,931,794...51,948,703
Ensembl chr12:51,931,802...51,948,705
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CHRNE
cholinergic receptor nicotinic epsilon subunit
ISO
ClinVar Annotator: match by term: Spastic ataxia 2
ClinVar
PMID:28492532
NCBI chr12:51,999,504...52,016,592
Ensembl chr12:52,011,250...52,016,299
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ENO3
enolase 3
ISO
ClinVar Annotator: match by term: Spastic ataxia 2
ClinVar
PMID:28492532
NCBI chr12:51,954,614...51,959,991
Ensembl chr12:51,954,613...51,961,496
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GP1BA
glycoprotein Ib platelet subunit alpha
ISO
ClinVar Annotator: match by term: Spastic ataxia 2
ClinVar
PMID:28492532
NCBI chr12:51,975,810...51,979,428
Ensembl chr12:51,975,874...51,977,757
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INCA1
inhibitor of CDK, cyclin A1 interacting protein 1
ISO
ClinVar Annotator: match by term: Spastic ataxia 2
ClinVar
PMID:28492532
NCBI chr12:51,923,764...51,931,875
Ensembl chr12:51,924,902...51,931,873
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KIF1C
kinesin family member 1C
ISO
ClinVar Annotator: match by term: Spastic ataxia 2
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17273843 PMID:17576681 PMID:24319291 PMID:24482476 PMID:24808017 PMID:25741868 PMID:26633545 PMID:27666373 PMID:28492532 PMID:28687974 PMID:28832565 PMID:29482223 PMID:30067756 PMID:32501971 PMID:34270679 PMID:35961316 More...
NCBI chr12:51,899,762...51,924,465
Ensembl chr12:51,897,494...51,924,432
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PFN1
profilin 1
ISO
ClinVar Annotator: match by term: Spastic ataxia 2
ClinVar
PMID:28492532
NCBI chr12:51,962,642...51,965,570
Ensembl chr12:51,961,952...51,965,464
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RNF167
ring finger protein 167
ISO
ClinVar Annotator: match by term: Spastic ataxia 2
ClinVar
PMID:28492532
NCBI chr12:51,966,028...51,970,811
Ensembl chr12:51,966,032...51,970,898
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SLC25A11
solute carrier family 25 member 11
ISO
ClinVar Annotator: match by term: Spastic ataxia 2
ClinVar
PMID:28492532
NCBI chr12:51,970,794...51,973,668
Ensembl chr12:51,970,806...51,975,548
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SPAG7
sperm associated antigen 7
ISO
ClinVar Annotator: match by term: Spastic ataxia 2
ClinVar
PMID:28492532
NCBI chr12:51,948,788...51,953,587
Ensembl chr12:51,948,722...51,953,585
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MARS2
methionyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Spastic ataxia 3
OMIM ClinVar
PMID:22448145 PMID:25741868 PMID:25741913 PMID:28492532
NCBI chr15:101,508,668...101,524,076
Ensembl chr15:101,510,638...101,512,419
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SACS
sacsin molecular chaperone
ISO
ClinVar Annotator: match by term: Autosomal recessive spastic ataxia
ClinVar
PMID:20876471 PMID:21450511 PMID:24033266 PMID:24180463 PMID:25741868
NCBI chr11:2,382,406...2,455,756
Ensembl chr11:2,382,906...2,442,316
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MTPAP
mitochondrial poly(A) polymerase
ISO
ClinVar Annotator: match by term: MTPAP-related condition | ClinVar Annotator: match by term: Spastic ataxia 4
OMIM ClinVar
PMID:20970105 PMID:24651433 PMID:25008111 PMID:25741868 PMID:26319014 PMID:26467025 PMID:28492532 PMID:31779033 More...
NCBI chr10:40,764,098...40,869,608
Ensembl chr10:40,764,396...40,789,061
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AFG3L2
AFG3 like matrix AAA peptidase subunit 2
ISO
ClinVar Annotator: match by term: Spastic ataxia 5
OMIM ClinVar
PMID:22022284 PMID:25401298 PMID:25741868 PMID:25741914 PMID:26454370 PMID:26467025 PMID:27165006 PMID:28492532 PMID:30773800 PMID:31111429 PMID:32219868 PMID:34333379 More...
NCBI chr 6:97,200,890...97,234,577
Ensembl chr 6:97,200,922...97,235,366
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TUBB6
tubulin beta 6 class V
ISO
ClinVar Annotator: match by term: Spastic ataxia 5
ClinVar
PMID:25741868 PMID:26467025 PMID:27165006 PMID:28492532
NCBI chr 6:97,233,639...97,240,692
Ensembl chr 6:97,229,868...97,240,662
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NKX6-2
NK6 homeobox 2
ISO
ClinVar Annotator: match by term: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:28575651 PMID:28969374 PMID:29388673 PMID:30285346 PMID:31509304 PMID:32860008 More...
NCBI chr14:140,895,622...140,899,114
Ensembl chr14:140,897,874...140,899,155
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CHP1
calcineurin like EF-hand protein 1
ISO
OMIM
NCBI chr 1:130,073,919...130,112,461
Ensembl chr 1:130,073,928...130,112,751
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ADAMTS13
ADAM metallopeptidase with thrombospondin type 1 motif 13
ISO
mRNA, protein:increased expression, increased activity:spinal cord (rat)
RGD
PMID:22425718
RGD:10449098
NCBI chr 1:273,022,014...273,066,916
Ensembl chr 1:273,024,009...273,056,039
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CCL2
chemokine (C-C motif) ligand 2
ISO
mRNA, protein:increased expression:liver, serum (rat) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:15135227 PMID:15855648
RGD:11526154
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
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CD163
CD163 molecule
disease_progression
ISO
protein:increased expression:gray matter of spinal cord, white matter of spinal cord (rat)
RGD
PMID:23775900
RGD:149735576
NCBI chr 5:63,300,200...63,334,497
Ensembl chr 5:63,300,231...63,334,498
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CHST14
carbohydrate sulfotransferase 14
exacerbates
ISO
RGD
PMID:26586562
RGD:155663489
NCBI chr 1:130,845,103...130,847,203
Ensembl chr 1:130,845,835...130,846,965
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EGR1
early growth response 1
ISO
protein:increased expression:spinal cord dorsal horn (rat)
RGD
PMID:20675054
RGD:5131876
NCBI chr 2:140,440,829...140,445,302
Ensembl chr 2:140,441,421...140,445,296
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ELANE
elastase, neutrophil expressed
treatment
ISO
RGD
PMID:9675307
RGD:10450552
NCBI chr 2:77,513,769...77,516,118
Ensembl chr 2:77,509,344...77,516,027
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EPO
erythropoietin
ISO
protein:increased expression:neuron, endothelium, glia:
RGD
PMID:15792521
RGD:11041719
NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936
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EPOR
erythropoietin receptor
ISO
protein:increased expression:neuron, endothelium, glia:
RGD
PMID:15792521
RGD:11041719
NCBI chr 2:70,063,601...70,068,821
Ensembl chr 2:70,063,519...70,068,821
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FAS
Fas cell surface death receptor
treatment
ISO
human protein in a rat model protein:increased expression:spinal cord:
RGD
PMID:16202410 PMID:16689665 PMID:21490053
RGD:12904017 RGD:1582444 RGD:8663485
NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
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FASLG
Fas ligand
treatment
ISO
protein:increased expression:spinal cord:
RGD
PMID:21490053
RGD:12904017
NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464
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FGF2
fibroblast growth factor 2
ISO
protein:increased expression:spinal cord
RGD
PMID:17244329
RGD:8655633
NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,885...101,343,916
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FGFR2
fibroblast growth factor receptor 2
ISO
protein:increased expression:spinal cord (rat)
RGD
PMID:28981091
RGD:155782905
NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,713...131,289,425
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FIS1
fission, mitochondrial 1
treatment
ISO
RGD
PMID:25595990
RGD:12437079
NCBI chr 3:8,938,250...8,942,102
Ensembl chr 3:8,937,453...8,946,955
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HMGCS1
3-hydroxy-3-methylglutaryl-CoA synthase 1
ISO
protein:decreased expression:spinal cord, thoracic vertebrae (rat)
RGD
PMID:20399821
RGD:2326108
NCBI chr16:27,936,225...27,957,261
Ensembl chr16:27,936,218...27,957,193
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HSPA4
heat shock protein family A (Hsp70) member 4
ISO
protein:increased expression:spinal cord (mouse)
RGD
PMID:21787762
RGD:6218959
NCBI chr 2:135,345,724...135,391,112
Ensembl chr 2:135,345,867...135,391,108
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IL6
interleukin 6
ISO
protein:increased expression:cerebrospinal fluid, serum
RGD
PMID:30327453
RGD:14975119
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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L1CAM
L1 cell adhesion molecule
ISO
RGD
PMID:21671795
RGD:6483029
NCBI chr X:124,595,649...124,618,292
Ensembl chr X:124,595,651...124,618,307
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MIR17
microRNA mir-17
treatment
ISO
RGD
PMID:31115018
RGD:329403058
NCBI chr11:60,734,656...60,734,732
Ensembl chr11:60,734,656...60,734,732
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MT-2B
metallothionein-2A
ISO
mRNA:increased expression:spinal cord (mouse)
RGD
PMID:15592854
RGD:6483848
NCBI chr 6:18,645,125...18,646,034
Ensembl chr 6:18,645,153...18,646,033
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NOS3
nitric oxide synthase 3
treatment
ISO
RGD
PMID:29323048
RGD:13504709
NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943
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PLAT
plasminogen activator, tissue type
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12227717
NCBI chr17:11,195,599...11,223,821
Ensembl chr17:11,195,602...11,224,032
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TNF
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15135227
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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TNFRSF1A
TNF receptor superfamily member 1A
ISO
protein:increased expression:spinal cord (rat)
RGD
PMID:21224756
RGD:5130917
NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909
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TNFRSF1B
TNF receptor superfamily member 1B
ISO
protein:increased expression:spinal cord (rat) human protein in rat model
RGD
PMID:21224756
RGD:5130917
NCBI chr 6:72,195,420...72,231,146
Ensembl chr 6:72,195,435...72,231,147
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ABCC8
ATP binding cassette subfamily C member 8
treatment
ISO
mRNA:increased expression:spinal cord
RGD
PMID:20410530 PMID:25763638
RGD:12790978 RGD:12791993
NCBI chr 2:41,666,974...41,754,624
Ensembl chr 2:41,666,909...41,754,620
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ACAN
aggrecan
ISO
protein:altered expression:spinal cord (rat)
RGD
PMID:14769391
RGD:2315837
NCBI chr 7:54,449,830...54,520,606
Ensembl chr 7:54,449,816...54,519,194
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ADARB1
adenosine deaminase RNA specific B1
ISO
RGD
PMID:20456005
RGD:10755338
NCBI chr13:207,746,915...207,791,809
Ensembl chr13:207,691,174...207,791,802
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ADCYAP1
adenylate cyclase activating polypeptide 1
ISO
protein:altered expression:spinal cord,dorsal root ganglion, urinary bladder
RGD
PMID:15698618 PMID:15913892
RGD:2325306 RGD:2325309
NCBI chr 6:105,414,628...105,422,294
Ensembl chr 6:105,414,631...105,422,294
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ADIPOQ
adiponectin, C1Q and collagen domain containing
ISO
protein:increased expression:serum
RGD
PMID:16213239
RGD:5686719
NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,685...124,646,646
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ADORA1
adenosine A1 receptor
ISO
protein:decreased expression:spinal cord
RGD
PMID:17853654 PMID:18289533 PMID:20065990
RGD:4890369 RGD:5129094 RGD:5129096
NCBI chr 9:113,835,279...113,875,899
Ensembl chr 9:113,835,921...113,872,365
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ADORA2A
adenosine A2a receptor
ISO
RGD
PMID:17559837
RGD:4890378
NCBI chr14:49,467,186...49,485,845
Ensembl chr14:49,468,877...49,485,850
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ADRA1A
adrenoceptor alpha 1A
ISO
mRNA:increased expression:aorta
RGD
PMID:16524515
RGD:5688371
NCBI chr14:10,623,391...10,733,378
Ensembl chr14:10,626,293...10,733,068
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AGER
advanced glycosylation end-product specific receptor
ISO
protein:increased expression:spinal cord (rat)
RGD
PMID:20195207
RGD:2325645
NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,120...24,221,162
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AIF1
allograft inflammatory factor 1
ISO
protein:altered expression:spinal cord dorsal horn (rat)
RGD
PMID:17158026
RGD:2313037
NCBI chr 7:23,711,752...23,731,191
Ensembl chr 7:23,726,787...23,731,671
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AKT1
AKT serine/threonine kinase 1
ISO
RGD
PMID:20678995
RGD:10040962
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AKT1S1
AKT1 substrate 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17457363
NCBI chr 6:54,881,581...54,890,917
Ensembl chr 6:54,881,588...54,890,641
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AMBRA1
autophagy and beclin 1 regulator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29793971
NCBI chr 2:15,935,354...16,119,082
Ensembl chr 2:15,935,375...16,119,079
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ANKRD1
ankyrin repeat domain 1
ISO
mRNA:increased expression:spinal cord, dorsal root ganglion, neuron
RGD
PMID:17610582
RGD:5133279
NCBI chr14:102,603,777...102,612,857
Ensembl chr14:102,603,777...102,612,839
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ANP32B
acidic nuclear phosphoprotein 32 family member B
ISO
RGD
PMID:25034417
RGD:10401137
NCBI chr 1:239,842,062...239,868,404
Ensembl chr 1:239,842,067...239,868,403
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ANXA1
annexin A1
treatment
ISO
mRNA,protein:increased expression:neuron,glial cell
RGD
PMID:15248295 PMID:17917587
RGD:10053688 RGD:2306891
NCBI chr 1:226,414,200...226,431,963
Ensembl chr 1:226,414,306...226,432,279
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ANXA2
annexin A2
ISO
mRNA,protein:increased expression:neuron,glial cell
RGD
PMID:15248295
RGD:10053688
NCBI chr 1:111,588,721...111,635,064
Ensembl chr 1:111,588,306...111,635,059
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ANXA5
annexin A5
ISO
mRNA,protein:increased expression:neuron,glial cell
RGD
PMID:15248295
RGD:10053688
NCBI chr 8:102,387,833...102,420,868
Ensembl chr 8:102,388,103...102,425,750
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APAF1
apoptotic peptidase activating factor 1
ISO
RGD
PMID:21748659
RGD:10053608
NCBI chr 5:85,166,616...85,258,751
Ensembl chr 5:85,166,628...85,258,364
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APEX1
apurinic/apyrimidinic endodeoxyribonuclease 1
ISO
mRNA:increased expression:spinal cord
RGD
PMID:18637713
RGD:2315670
NCBI chr 7:78,451,845...78,454,938
Ensembl chr 7:78,451,851...78,454,938
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APOE
apolipoprotein E
ISO
DNA:polymorphism:exon:
RGD
PMID:18581664 PMID:30036659
RGD:13703128 RGD:7771551
NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330
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AQP1
aquaporin 1 (Colton blood group)
ISO
protein:increased expression:spinal cord, neuron, astrocyte CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:18248364 PMID:21092735
RGD:2307072 RGD:5148013
NCBI chr18:42,063,482...42,076,741
Ensembl chr18:42,063,485...42,076,746
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AQP4
aquaporin 4
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:20517941 PMID:21092735 PMID:21280976
RGD:5148013 RGD:5148027 RGD:5148035
NCBI chr 6:111,407,632...111,422,169
Ensembl chr 6:111,407,639...111,422,109
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ATF4
activating transcription factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29793971
NCBI chr 5:8,742,964...8,745,752
Ensembl chr 5:8,742,967...8,745,368
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ATG5
autophagy related 5
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:axon
CTD RGD
PMID:25040536 PMID:29793971
RGD:11553820
NCBI chr 1:72,343,950...72,520,402
Ensembl chr 1:72,270,799...72,520,396
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ATG7
autophagy related 7
ISO
protein:increased expression:axon
RGD
PMID:25040536
RGD:11553820
NCBI chr13:67,301,756...67,699,141
Ensembl chr13:67,417,938...67,707,654
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ATM
ATM serine/threonine kinase
ISO
protein:increased expression:spinal cord
RGD
PMID:21748659
RGD:10053608
NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,552
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ATP2A1
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
ISO
protein:decreased expression:tail, skeletal muscle
RGD
PMID:21930674
RGD:13782071
NCBI chr 3:18,545,064...18,568,312
Ensembl chr 3:18,545,071...18,568,310
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ATP2A2
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
ISO
protein:decreased expression:tail, skeletal muscle
RGD
PMID:21930674
RGD:13782071
NCBI chr14:31,674,659...31,744,981
Ensembl chr14:31,674,757...31,744,969
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BAMBI
BMP and activin membrane bound inhibitor
ISO
mRNA,protein:decreased expression:spinal cord:
RGD
PMID:28035406
RGD:14390163
NCBI chr10:40,053,368...40,058,590
Ensembl chr10:40,053,355...40,060,319
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BAX
BCL2 associated X, apoptosis regulator
treatment
ISO
RGD
PMID:27256506
RGD:13792677
NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,222,336...54,228,140
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BCAN
brevican
treatment
ISO
RGD
PMID:15016081
RGD:9589823
NCBI chr 4:93,432,331...93,450,895
Ensembl chr 4:93,432,330...93,450,831
G
BCL2
BCL2 apoptosis regulator
treatment
ISO
RGD
PMID:27256506
RGD:13792677
NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879
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BDNF
brain derived neurotrophic factor
treatment
ISO
RGD
PMID:16022868 PMID:19203225 PMID:24551172
RGD:10059354 RGD:4891066 RGD:4891112
NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,624,048...32,679,765
G
BECN1
beclin 1
treatment
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:spinal cord
CTD RGD
PMID:21806471 PMID:23852559 PMID:24559459 PMID:29793971
RGD:11561918 RGD:11561922 RGD:6483100
NCBI chr12:20,041,914...20,054,249
Ensembl chr12:20,041,956...20,054,373
G
BMP2
bone morphogenetic protein 2
ISO
RGD
PMID:23770801
RGD:9068404
NCBI chr17:15,750,487...15,762,982
Ensembl chr17:15,749,835...15,761,195
G
BMP4
bone morphogenetic protein 4
treatment
ISO
RGD
PMID:18803859 PMID:23770801
RGD:9068404 RGD:9068437
NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,146...183,422,637
G
BNIP3
BCL2 interacting protein 3
ISO
protein:increased expression:spinal cord
RGD
PMID:23637053
RGD:11564330
NCBI chr14:140,362,123...140,371,951
Ensembl chr14:140,362,127...140,371,907
G
BNIP3L
BCL2 interacting protein 3 like
ISO
protein:increased expression:spinal cord
RGD
PMID:23637053
RGD:11564330
NCBI chr14:10,318,688...10,345,689
Ensembl chr14:10,318,732...10,345,679
G
BRCA2
BRCA2 DNA repair associated
ISO
mRNA,protein:increased expression:spinal cord:
RGD
PMID:21748659
RGD:10053608
NCBI chr11:8,805,950...8,858,128
Ensembl chr11:8,805,953...8,858,418
G
C1QB
complement C1q B chain
ISO
mRNA:increased expression
RGD
PMID:16345062
RGD:1599510
NCBI chr 6:80,601,680...80,606,076
Ensembl chr 6:80,601,665...80,607,471
G
CAPN1
calpain 1
treatment
ISO
RGD
PMID:23102374
RGD:13792496
NCBI chr 2:6,997,513...7,024,410
Ensembl chr 2:6,997,985...7,022,684
G
CAPZB
capping actin protein of muscle Z-line subunit beta
ISO
protein:decreased expression:spinal cord
RGD
PMID:20141154
RGD:9685028
NCBI chr 6:77,780,682...77,912,653
Ensembl chr 6:77,780,682...77,912,617
G
CASP1
caspase 1, apoptosis-related cysteine peptidase
ISO
protein:increased expression, increased activation:spinal cord
RGD
PMID:18367607
RGD:2315889
NCBI chr 9:35,188,066...35,199,364
Ensembl chr 9:35,186,420...35,200,328
G
CASP3
caspase 3
treatment
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:14588118 PMID:18378144 PMID:21748659 PMID:27256506 PMID:27339639
RGD:10053608 RGD:13782345 RGD:13792677 RGD:2293322
NCBI chr15:45,744,320...45,753,252
Ensembl chr15:45,742,751...45,764,213
G
CASP9
caspase 9
treatment
ISO
RGD
PMID:21748659 PMID:27339639
RGD:10053608 RGD:13782345
NCBI chr 6:74,707,597...74,730,033
Ensembl chr 6:74,706,516...74,730,007
G
CAV1
caveolin 1
ISO
protein:increased phosphorylation:spinal cord
RGD
PMID:17275798
RGD:2289124
NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465
G
CCL5
C-C motif chemokine ligand 5
ISO
mRNA:increased expression:spinal cord segment (mouse)
RGD
PMID:20478301
RGD:4889905
NCBI chr12:39,652,731...39,659,121
Ensembl chr12:39,648,598...39,659,118
G
CCND3
cyclin D3
ISO
protein:increased expression:spinal cord
RGD
PMID:18008145
RGD:2316019
NCBI chr 7:37,087,336...37,182,462
Ensembl chr 7:37,082,097...37,181,366
G
CCNE1
cyclin E1
ISO
protein:increased expression:spinal cord
RGD
PMID:16759516
RGD:2289281
NCBI chr 6:39,919,541...39,933,224
Ensembl chr 6:39,919,624...39,933,363
G
CCNH
cyclin H
ISO
mRNA, protein:increased expression:spinal cord
RGD
PMID:21710280
RGD:9590263
NCBI chr 2:94,980,938...95,019,053
Ensembl chr 2:94,980,941...95,018,634
G
CCR1
C-C motif chemokine receptor 1
ISO
RGD
PMID:21332278
RGD:5688138
NCBI chr13:29,227,218...29,233,862
Ensembl chr13:29,227,222...29,233,960
G
CCR2
C-C motif chemokine receptor 2
ISO
protein:increased expression:spinal cord
RGD
PMID:18338959
RGD:4144888
NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,285,012...29,376,343
G
CD274
CD274 molecule
ISO
mRNA:increased expression:microglial cell
RGD
PMID:29665726
RGD:40886268
NCBI chr 1:216,646,378...216,792,731
Ensembl chr 1:216,660,041...216,792,724
G
CDC42
cell division cycle 42
ISO
mRNA:increased expression:spinal cord
RGD
PMID:15736231
RGD:5688276
NCBI chr 6:80,035,034...80,089,243
Ensembl chr 6:80,035,123...80,089,233
G
CDK1
cyclin dependent kinase 1
ISO
protein:increased expression:spinal cord dura mater (rat)
RGD
PMID:19672039
RGD:2316488
NCBI chr14:64,233,945...64,255,290
Ensembl chr14:64,233,987...64,372,197
G
CDK19
cyclin dependent kinase 19
ISO
mRNA, protein:increased expression:spinal cord
RGD
PMID:18008145
RGD:2316019
NCBI chr 1:76,589,050...76,793,476
Ensembl chr 1:76,589,052...76,793,278
G
CDKN1B
cyclin dependent kinase inhibitor 1B
ISO
protein:decreased expression, altered localization:spinal cord, neuron, microglial cell
RGD
PMID:18319192
RGD:2293615
NCBI chr 5:59,731,224...59,735,831
Ensembl chr 5:59,731,206...59,735,831
G
CHL1
cell adhesion molecule L1 like
ISO
protein:increased expression:spinal cord (rat)
RGD
PMID:21337374
RGD:6483045
NCBI chr13:56,804,309...57,034,191
Ensembl chr13:56,804,555...57,034,181
G
CNR1
cannabinoid receptor 1
ISO
RGD
PMID:18930143
RGD:2316199
NCBI chr 1:56,466,022...56,493,275
Ensembl chr 1:56,467,835...56,492,602
G
CNR2
cannabinoid receptor 2
ISO
RGD
PMID:18930143
RGD:2316199
NCBI chr 6:81,659,162...81,692,550
Ensembl chr 6:81,659,169...81,692,550
G
CRH
corticotropin releasing hormone
ISO
protein:altered expression:spinal cord (rat)
RGD
PMID:20458328
RGD:5490964
NCBI chr 4:68,481,696...68,486,122
Ensembl chr 4:68,484,053...68,486,121
G
CRP
C-reactive protein, pentraxin-related
ISO
RGD
PMID:22404382
RGD:6903321
NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
G
CSF2
colony stimulating factor 2
treatment
ISO
RGD
PMID:15658127
RGD:10449531
NCBI chr 2:134,354,724...134,357,155
Ensembl chr 2:134,354,724...134,357,155
G
CSF3
colony stimulating factor 3
treatment
ISO
RGD
PMID:21953623
RGD:10450511
NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,449...22,338,753
G
CSPG4
chondroitin sulfate proteoglycan 4
ISO
RGD
PMID:19604403 PMID:22042562 PMID:22243800
RGD:5686844 RGD:5686848 RGD:5686859
NCBI chr 7:57,949,182...57,988,602
Ensembl chr 7:57,949,455...57,988,335
G
CTSS
cathepsin S
ISO
RGD
PMID:16344894
RGD:2303423
NCBI chr 4:98,415,273...98,442,952
Ensembl chr 4:98,417,883...98,442,950
G
CXCL10
C-X-C motif chemokine ligand 10
ISO
RGD
PMID:19170890
RGD:2311365
NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948
G
CYBA
cytochrome b-245 alpha chain
ISO
mRNA:increased expression:spinal cord
RGD
PMID:16345062
RGD:1599510
NCBI chr 6:1,015,212...1,021,422
Ensembl chr 6:1,015,162...1,021,420
G
DAB2
DAB adaptor protein 2
ISO
protein:increased expression:spinal cord
RGD
PMID:17317100
RGD:7243246
NCBI chr16:24,590,638...24,776,937
Ensembl chr16:24,590,645...24,646,122
G
DCC
DCC netrin 1 receptor
ISO
RGD
PMID:16998900
RGD:2314373
NCBI chr 1:101,518,629...103,087,021
Ensembl chr 1:101,846,100...103,083,096
G
DDIT3
DNA damage inducible transcript 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29793971
NCBI chr 5:22,785,441...22,789,867
Ensembl chr 5:22,785,445...22,789,829
G
DUSP1
dual specificity phosphatase 1
treatment
ISO
protein:decreased expression:spinal cord
RGD
PMID:18630599 PMID:19383246
RGD:7771572 RGD:7771580
NCBI chr16:51,457,924...51,461,095
Ensembl chr16:51,458,020...51,461,086
G
EFNB2
ephrin B2
ISO
mRNA,protein:increased expression:fibroblast, astrocyte protein:increased phosporylation:spinal cord
RGD
PMID:12944508 PMID:33794069
RGD:127285659 RGD:127285804
NCBI chr11:74,188,337...74,232,768
Ensembl chr11:74,186,640...74,233,354
G
EGFR
epidermal growth factor receptor
ISO
protein:increased phosphorylation:spinal cord, astrocyte (rat)
RGD
PMID:20869112 PMID:21402118
RGD:5131454 RGD:5131525
NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589
G
EIF5A
eukaryotic translation initiation factor 5A
ISO
mRNA, protein:increased expression:gastrocnemius
RGD
PMID:23238062
RGD:10395360
NCBI chr12:52,659,040...52,664,686
G
ENDOG
endonuclease G
ISO
RGD
PMID:16689664
RGD:8655990
NCBI chr 1:269,153,955...269,157,789
Ensembl chr 1:269,154,090...269,157,788
G
ENO2
enolase 2
ISO
protein:increased expression:serum, cerebrospinal fluid
RGD
PMID:18343116
RGD:2293743
NCBI chr 5:63,799,927...63,809,067
Ensembl chr 5:63,799,930...63,809,410
G
ENSA
endosulfine alpha
ISO
mRNA:decreased expression:spinal cord
RGD
PMID:16344894
RGD:2303423
NCBI chr 4:98,527,902...98,535,647
Ensembl chr 4:98,527,907...98,542,959
G
EPHA3
EPH receptor A3
ISO
RGD
PMID:16083359
RGD:2301766
NCBI chr13:166,592,492...166,942,791
Ensembl chr13:166,592,493...166,942,767
G
EPHA4
EPH receptor A4
ISO
RGD
PMID:17418490 PMID:17970742 PMID:21931787
RGD:5688750 RGD:5688764 RGD:5688782
NCBI chr15:123,350,867...123,501,872
Ensembl chr15:123,352,816...123,503,126
G
EPHA7
EPH receptor A7
ISO
mRNA:increased expression:spinal cord
RGD
PMID:16983667
RGD:2301957
NCBI chr 1:60,771,567...60,944,092
Ensembl chr 1:60,771,572...60,944,038
G
EPHB2
EPH receptor B2
ameliorates
ISO
RGD
PMID:12944508 PMID:33794069
RGD:127285659 RGD:127285804
NCBI chr 6:80,649,098...80,849,979
Ensembl chr 6:80,650,740...80,843,567
G
EPO
erythropoietin
treatment
ISO
RGD
PMID:22196867
RGD:10401074
NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936
G
ERBB3
erb-b2 receptor tyrosine kinase 3
ISO
mRNA, protein:increased expression:spinal cord
RGD
PMID:11797086
RGD:2289967
NCBI chr 5:21,474,218...21,495,040
Ensembl chr 5:21,474,475...21,495,038
G
ESR1
estrogen receptor 1
ISO
RGD
PMID:25105782
RGD:10045844
NCBI chr 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363
G
ESR2
estrogen receptor 2
ISO
RGD
PMID:25105782
RGD:10045844
NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,829,560...193,906,565
G
F2
coagulation factor II, thrombin
ISO
RGD
PMID:16344894
RGD:2303423
NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137
G
FADD
Fas associated via death domain
treatment
ISO
RGD
PMID:23574812
RGD:11344882
NCBI chr 2:3,191,718...3,194,820
Ensembl chr 2:3,185,675...3,194,818
G
FAS
Fas cell surface death receptor
ISO
protein:increased expression:cervical spinal cord
RGD
PMID:17518537 PMID:17703359 PMID:29738767
RGD:13792580 RGD:2290176 RGD:2290177
NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
G
FGF1
fibroblast growth factor 1
ISO
Human FGF1 used in rat model of spinal cord injury
RGD
PMID:8662542 PMID:18482974 PMID:20488178 PMID:21663406
RGD:2317692 RGD:5509875 RGD:5509876 RGD:5509877
NCBI chr 2:144,133,846...144,241,345
Ensembl chr 2:144,133,392...144,241,323
G
FGF2
fibroblast growth factor 2
treatment
ISO
RGD
PMID:24968269
RGD:40924652
NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,885...101,343,916
G
FIS1
fission, mitochondrial 1
treatment
ISO
RGD
PMID:26079325
RGD:12437066
NCBI chr 3:8,938,250...8,942,102
Ensembl chr 3:8,937,453...8,946,955
G
FKBP1B
FKBP prolyl isomerase 1B
ISO
RGD
PMID:27998200
RGD:329853757
NCBI chr 3:114,623,529...114,636,200
Ensembl chr 3:114,623,532...114,634,628
G
FLT1
fms related receptor tyrosine kinase 1
ISO
mRNA:increased expression:spinal cord, astrocyte, macrophage
RGD
PMID:17409380
RGD:5684414
NCBI chr11:5,620,698...5,797,095
Ensembl chr11:5,621,212...5,795,264
G
FN1
fibronectin 1
ISO
RGD
PMID:20347014
RGD:7205459
NCBI chr15:117,658,158...117,737,145
Ensembl chr15:117,658,099...117,731,014
G
FOXO3
forkhead box O3
ISO
protein:decreased expression:spinal cord,neuron, astrocyte:
RGD
PMID:22930444
RGD:10402202
NCBI chr 1:74,626,673...74,760,323
Ensembl chr 1:74,628,218...74,760,325
G
FOXP3
forkhead box P3
treatment
ISO
RGD
PMID:30287503
RGD:38549580
NCBI chr X:43,303,777...43,328,164
Ensembl chr X:43,303,785...43,322,968
G
GAP43
growth associated protein 43
treatment
ISO
RGD
PMID:24968269
RGD:40924652
NCBI chr13:144,364,314...144,458,136
Ensembl chr13:144,364,317...144,629,174
G
GAPDH
glyceraldehyde-3-phosphate dehydrogenase
treatment
ISO
RGD
PMID:27256506
RGD:13792677
NCBI chr 5:64,129,678...64,135,194
Ensembl chr 5:64,129,679...64,133,991
G
GDNF
glial cell derived neurotrophic factor
ISO
RGD
PMID:22342994
RGD:5688774
NCBI chr16:22,936,602...22,965,929
Ensembl chr16:22,936,604...22,966,536
G
GFAP
glial fibrillary acidic protein
treatment
ISO
protein:increased expression:spinal cord
RGD
PMID:10225952 PMID:21250919 PMID:24968269
RGD:40924652 RGD:6480471 RGD:6480511
NCBI chr12:18,456,268...18,466,594
Ensembl chr12:18,456,263...18,466,592
G
GHSR
growth hormone secretagogue receptor
ISO
RGD
PMID:25261791
RGD:12907564
NCBI chr13:110,981,465...111,006,149
Ensembl chr13:110,983,298...111,038,324
G
GJA1
gap junction protein alpha 1
treatment
ISO
RGD
PMID:23403365 PMID:24183749
RGD:8662431 RGD:8662460
NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,528...41,002,156
G
GJC2
gap junction protein gamma 2
treatment
ISO
RGD
PMID:26415641
RGD:13208513
NCBI chr 2:51,257,623...51,267,969
Ensembl chr 2:51,258,207...51,267,962
G
GOT2
glutamic-oxaloacetic transaminase 2
ISO
protein:increased expression:spinal cord (rat)
RGD
PMID:27150525
RGD:13506243
NCBI chr 6:20,407,203...20,431,849
Ensembl chr 6:20,407,200...20,432,067
G
GP91-PHOX
NADPH oxidase heavy chain subunit
ISO
mRNA,protein:increased expression:microglia:
RGD
PMID:20679217
RGD:11040629
NCBI chr X:33,654,656...33,678,346
Ensembl chr X:33,643,648...33,680,580
G
GPER1
G protein-coupled estrogen receptor 1
ISO
RGD
PMID:22975889
RGD:8552988
NCBI chr 3:711,427...715,982
Ensembl chr 3:712,160...715,980
G
GPX3
glutathione peroxidase 3
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:21559420
RGD:40907059
NCBI chr16:71,980,467...71,989,011
Ensembl chr16:71,980,475...71,989,026
G
GRK6
G protein-coupled receptor kinase 6
ISO
protein:increased expression:spinal cord, neuron, microglial cell (rat)
RGD
PMID:23359120
RGD:13792782
NCBI chr 2:80,496,105...80,527,208
Ensembl chr 2:80,508,979...80,527,210
G
GRN
granulin precursor
ISO
mRNA, protein:increased expression:spinal cord:
RGD
PMID:19946692
RGD:5509603
NCBI chr12:18,893,772...18,900,444
Ensembl chr12:18,893,770...18,900,446
G
GSTA4
glutathione S-transferase alpha 4
ISO
mRNA:increased expression:lumbar segment of spinal cord (rat)
RGD
PMID:22160604
RGD:5687769
NCBI chr 7:46,635,903...46,656,491
Ensembl chr 7:46,635,902...46,656,450
G
HGF
hepatocyte growth factor
treatment
ISO
mRNA,protein:increased expression:spinal cord:
RGD
PMID:17549731 PMID:22140459
RGD:2317487 RGD:8548666
NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564
G
HIF1A
hypoxia inducible factor 1 subunit alpha
ISO
protein:increased expression:spinal cord
RGD
PMID:21092735
RGD:5148013
NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,244...190,674,845
G
HMGB1
high mobility group box 1
ISO
mRNA:increased expression:spinal cord
RGD
PMID:20195207
RGD:2325645
NCBI chr11:7,195,556...7,321,071
G
HMOX1
heme oxygenase 1
treatment
ISO
RGD
PMID:23943397
RGD:10766443
G
HRH3
histamine receptor H3
ISO
RGD
PMID:16671478
RGD:1626425
NCBI chr17:61,622,865...61,627,278
Ensembl chr17:61,622,938...61,627,278
G
HSP90AB1
heat shock protein 90 alpha family class B member 1
ISO
protein:decreased expression:spinal cord (rat)
RGD
PMID:24499940
RGD:10445836
NCBI chr 7:39,237,299...39,250,479
Ensembl chr 7:39,244,458...39,250,481
G
HSPA5
heat shock protein family A (Hsp70) member 5
ISO
mRNA: increased expression
RGD
PMID:21933012
RGD:5685666
NCBI chr 1:265,930,044...265,934,959
Ensembl chr 1:265,930,045...265,934,894
G
HSPB1
heat shock protein family B (small) member 1
treatment
ISO
mRNA,protein:increased expression:spinal cord:
RGD
PMID:12098653 PMID:30287503
RGD:10402749 RGD:38549580
NCBI chr 3:10,038,074...10,039,441
Ensembl chr 3:10,037,949...10,039,704
G
ICAM1
intercellular adhesion molecule 1
treatment
ISO
RGD
PMID:8627308
RGD:11522712
NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
G
ID1
inhibitor of DNA binding 1
ISO
mRNA:increased expression:spinal cord (rat)
RGD
PMID:11746449
RGD:9686138
NCBI chr17:35,316,518...35,317,742
Ensembl chr17:35,316,514...35,317,736
G
ID2
inhibitor of DNA binding 2
ISO
mRNA:increased expression:spinal cord (rat)
RGD
PMID:11746449
RGD:9686138
NCBI chr 3:127,500,759...127,503,207
Ensembl chr 3:127,500,763...127,503,257
G
ID3
inhibitor of DNA binding 3
ISO
mRNA:increased expression:spinal cord (rat)
RGD
PMID:11746449
RGD:9686138
NCBI chr 6:81,422,541...81,424,169
Ensembl chr 6:81,422,546...81,424,075
G
IFNB1
interferon beta 1
ameliorates
ISO
RGD
PMID:17426631 PMID:20109445
RGD:401854235 RGD:401854241
NCBI chr 1:201,850,935...201,851,495
Ensembl chr 1:201,850,935...201,851,495
G
IL10
interleukin 10
treatment
ISO
RGD
PMID:29691718
RGD:14975124
NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
G
IL18
interleukin 18
treatment
ISO
RGD
PMID:18367607 PMID:23140983
RGD:2315889 RGD:8655974
NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
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IL1R1
interleukin 1 receptor type 1
ISO
mRNA,protein:increased expression:spinal cord
RGD
PMID:16456668
RGD:7207035
NCBI chr 3:52,192,912...52,334,734
Ensembl chr 3:52,192,915...52,288,485
G
IL1RN
interleukin 1 receptor antagonist
ISO
protein:increased expression:serum (human)
RGD
PMID:16038625 PMID:17964877
RGD:1626673 RGD:6907102
G
IL4
interleukin 4
ISO
RGD
PMID:20623539
RGD:5128562
NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
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IL4R
interleukin 4 receptor
ISO
mRNA:increased expression:spinal cord
RGD
PMID:20623539
RGD:5128562
NCBI chr 3:19,526,343...19,576,792
Ensembl chr 3:19,523,564...19,576,544
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IL6
interleukin 6
treatment
ISO
RGD
PMID:27085942 PMID:29691718
RGD:11062150 RGD:14975124
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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IRF1
interferon regulatory factor 1
ISO
RGD
PMID:11723173
RGD:2298928
NCBI chr 2:134,776,122...134,783,646
Ensembl chr 2:134,776,129...134,783,801
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IRF5
interferon regulatory factor 5
treatment
ISO
RGD
PMID:24968269
RGD:40924652
NCBI chr18:19,678,377...19,691,154
Ensembl chr18:19,678,687...19,691,243
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ITIH4
inter-alpha-trypsin inhibitor heavy chain 4
severity
ISO
protein:decreased expression:cerebrospinal fluid
RGD
PMID:21559420
RGD:40907059
NCBI chr13:34,928,455...34,948,250
Ensembl chr13:34,928,439...34,948,229
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JAK2
Janus kinase 2
treatment
ISO
RGD
PMID:23274522
RGD:10411896
NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,689...217,002,148
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JUN
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
protein:increased phosphorylation:neuron
RGD
PMID:21132399
RGD:4889994
NCBI chr 6:153,686,425...153,687,635
Ensembl chr 6:153,685,682...153,687,636
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KCNJ10
potassium inwardly rectifying channel subfamily J member 10
ISO
protein:decreased expression:spinal cord
RGD
PMID:20375134
RGD:8662905
NCBI chr 4:90,421,956...90,457,406
Ensembl chr 4:90,422,025...90,457,406
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KCNK2
potassium two pore domain channel subfamily K member 2
treatment
ISO
RGD
PMID:22425721
RGD:9831183
NCBI chr 9:128,429,232...128,659,662
Ensembl chr 9:128,429,092...128,661,639
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KCNN4
potassium calcium-activated channel subfamily N member 4
ISO
RGD
PMID:24606313
RGD:329955563
NCBI chr 6:50,580,016...50,593,518
Ensembl chr 6:50,580,022...50,593,544
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KDM6B
lysine demethylase 6B
ISO
mRNA:increased expression:spinal cord (rat)
RGD
PMID:22578249
RGD:9587821
NCBI chr12:53,087,072...53,108,949
Ensembl chr12:53,098,964...53,108,214
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KDR
kinase insert domain receptor
ISO
mRNA:increased expression:spinal cord, astrocyte, macrophage
RGD
PMID:17409380
RGD:5684414
NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336
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KIF3B
kinesin family member 3B
ISO
protein:increased expression:spinal cord
RGD
PMID:23093447
RGD:11049594
NCBI chr17:35,914,214...35,962,332
Ensembl chr17:35,914,246...35,961,522
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KLK6
kallikrein related peptidase 6
ISO
protein:increased expression:spinal cord
RGD
PMID:16987227
RGD:2314866
NCBI chr 6:55,629,983...55,639,215
Ensembl chr 6:55,629,991...55,638,080
G
KMO
kynurenine 3-monooxygenase
ISO
mRNA,protein:increased expression:spinal cord:
RGD
PMID:26524415
RGD:13703043
NCBI chr10:12,442,877...12,489,417
Ensembl chr10:12,434,769...12,490,409
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LEP
leptin
ISO
RGD
PMID:19777863
RGD:5128780
NCBI chr18:20,106,867...20,124,071
Ensembl chr18:20,106,868...20,123,323
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LOC110258578
interleukin-1 beta-like
treatment
ISO
mRNA, protein:increased expression:spinal cord
RGD
PMID:16038625 PMID:23209732 PMID:29691718
RGD:14975124 RGD:1626673 RGD:7175523
G
LRP1
LDL receptor related protein 1
treatment
ISO
RGD
PMID:23867460
RGD:13800520
NCBI chr 5:22,435,636...22,519,276
G
LRP5
LDL receptor related protein 5
treatment
ISO
RGD
PMID:24090150
RGD:12798566
NCBI chr 2:4,533,721...4,653,997
Ensembl chr 2:4,533,614...4,653,944
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LUM
lumican
ISO
protein:increased expression:spinal cord
RGD
PMID:18482974
RGD:2317692
NCBI chr 5:91,748,871...91,756,381
Ensembl chr 5:91,748,885...91,757,598
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MAP1B
microtubule associated protein 1B
ISO
protein:increased phosphorylation:spinal cord, neuron
RGD
PMID:17880387
RGD:2304007
NCBI chr16:48,403,338...48,501,453
Ensembl chr16:48,403,568...48,498,885
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MAP1LC3A
microtubule associated protein 1 light chain 3 alpha
treatment
ISO
protein:increased expression:spinal cord
RGD
PMID:23637053 PMID:23852559 PMID:24559459
RGD:11561918 RGD:11561922 RGD:11564330
NCBI chr17:37,957,830...37,959,505
Ensembl chr17:37,957,507...37,959,505
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MAP1LC3B
microtubule associated protein 1 light chain 3 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29793971
NCBI chr 6:1,919,879...1,941,069
Ensembl chr 6:1,915,387...1,941,069
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MAP2
microtubule associated protein 2
ISO
RGD
PMID:21704982
RGD:6483323
NCBI chr15:112,156,578...112,462,932
Ensembl chr15:112,236,119...112,462,929
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MAP3K5
mitogen-activated protein kinase kinase kinase 5
ISO
protein:increased expression:white matter and grey matter:
RGD
PMID:10331432
RGD:10412645
NCBI chr 1:27,380,143...27,600,500
Ensembl chr 1:27,380,142...27,600,493
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MAPT
microtubule associated protein tau
treatment
ISO
RGD
PMID:22052241
RGD:8158113
NCBI chr12:17,098,259...17,211,483
Ensembl chr12:17,095,587...17,211,373
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MDM2
MDM2 proto-oncogene
ISO
protein:increased expression:spinal cord
RGD
PMID:23595775
RGD:10412063
NCBI chr 5:33,105,717...33,137,602
Ensembl chr 5:33,105,759...33,137,739
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MET
MET proto-oncogene, receptor tyrosine kinase
ISO
mRNA, protein:increased expression:spinal cord (rat)
RGD
PMID:17549731
RGD:2317487
NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512
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MFN1
mitofusin 1
treatment
ISO
protein:altered expression:spinal cord, mitochondrion (rat)
RGD
PMID:26079325 PMID:26981103
RGD:12437066 RGD:12910837
NCBI chr13:117,404,637...117,441,750
Ensembl chr13:117,404,699...117,442,481
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MFN2
mitofusin 2
treatment
ISO
protein:increased expression:spinal cord (rat)
RGD
PMID:26079325 PMID:28404953
RGD:12437066 RGD:12910735
NCBI chr 6:72,026,512...72,056,439
Ensembl chr 6:72,028,499...72,056,438
G
MIF
macrophage migration inhibitory factor
ISO
mRNA:increased expression:spinal cord, microglial cell
RGD
PMID:15067555
RGD:1641997
NCBI chr14:49,840,303...49,841,063
Ensembl chr14:49,840,305...49,841,068
G
MIR21
microRNA mir-21
exacerbates
ISO
RGD
PMID:31102912
RGD:41410823
NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358
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MIR214
microRNA mir-214
treatment
ISO
RGD
PMID:30287503
RGD:38549580
NCBI chr 9:114,527,992...114,528,101
Ensembl chr 9:114,527,990...114,528,101
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MMP2
matrix metallopeptidase 2
treatment
ISO
RGD
PMID:24436993
RGD:8657106
NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982
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MMP9
matrix metallopeptidase 9
treatment
ISO
RGD
PMID:25763638
RGD:12791993
NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
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MPO
myeloperoxidase
ISO
protein:increased activity:spinal cord
RGD
PMID:22986158
RGD:6909148
NCBI chr12:34,557,031...34,570,091
Ensembl chr12:34,556,408...34,567,904
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MRC1
mannose receptor C-type 1
treatment
ISO
RGD
PMID:24968269
RGD:40924652
NCBI chr10:44,107,926...44,226,734
Ensembl chr10:44,107,072...44,226,733
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MT-ND3
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3
ISO
RGD
PMID:20438613
RGD:5687694
NCBI chr MT:10,653...10,998
Ensembl chr MT:10,653...10,998
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MTOR
mechanistic target of rapamycin kinase
treatment
ISO
RGD
PMID:20678995
RGD:10040962
NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888
G
MYRF
myelin regulatory factor
ameliorates
ISO
RGD
PMID:27370227
RGD:213230157
NCBI chr 2:9,761,230...9,795,873
G
NAPEPLD
N-acyl phosphatidylethanolamine phospholipase D
ISO
mRNA:increased expression:spinal cord
RGD
PMID:18930143
RGD:2316199
NCBI chr 9:103,210,655...103,309,018
Ensembl chr 9:103,210,748...103,262,910
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NCAM1
neural cell adhesion molecule 1
treatment
ISO
RGD
PMID:28529158
RGD:40924632
NCBI chr 9:40,628,602...40,960,605
Ensembl chr 9:40,628,631...40,960,591
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NCF2
neutrophil cytosolic factor 2
ISO
protein:increased expression:spinal cord
RGD
PMID:14644473
RGD:2314450
NCBI chr 9:124,776,516...124,813,358
Ensembl chr 9:124,776,534...124,812,923
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NEFH
neurofilament heavy chain
treatment
ISO
RGD
PMID:18772508 PMID:32168135
RGD:27226888 RGD:9698443
NCBI chr14:46,559,698...46,568,686
Ensembl chr14:46,559,860...46,568,088
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NEFL
neurofilament light chain
treatment
ISO
RGD
PMID:18772508
RGD:9698443
NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,991,331...8,997,112
G
NEFM
neurofilament medium chain
treatment
ISO
RGD
PMID:18772508
RGD:9698443
NCBI chr14:8,955,346...8,967,211
G
NFE2L2
NFE2 like bZIP transcription factor 2
treatment
ISO
RGD
PMID:24747453
RGD:10412730
NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,656...83,146,183
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NFKBIA
NFKB inhibitor alpha
treatment
ISO
RGD
PMID:21134362
RGD:10413867
NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277
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NGF
nerve growth factor
ISO
RGD
PMID:12499054 PMID:16915089
RGD:5144069 RGD:5144073
NCBI chr 4:105,256,691...105,307,843
Ensembl chr 4:105,256,749...105,307,837
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NGFR
nerve growth factor receptor
treatment
ISO
mRNA:increased expression:spinal cord
RGD
PMID:11223160 PMID:23748892
RGD:10414079 RGD:5144100
NCBI chr12:25,699,410...25,720,355
Ensembl chr12:25,699,427...25,720,356
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NKX6-1
NK6 homeobox 1
ISO
RGD
PMID:18687784
RGD:2311166
NCBI chr 8:134,137,064...134,143,524
Ensembl chr 8:134,138,097...134,144,254
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NLK
nemo like kinase
ISO
protein:increased expression:grey matter:
RGD
PMID:24395089
RGD:12791278
NCBI chr12:44,402,990...44,553,527
Ensembl chr12:44,403,021...44,553,518
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NOG
noggin
treatment
ISO
RGD
PMID:18221366
RGD:10429192
NCBI chr12:32,891,321...32,892,206
Ensembl chr12:32,891,321...32,892,206
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NOS1
nitric oxide synthase 1
ISO
protein:increased expression:spinal cord
RGD
PMID:19291395 PMID:20633123
RGD:5131936 RGD:5132595
NCBI chr14:35,112,898...35,299,297
Ensembl chr14:35,113,184...35,295,944
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NOS2
nitric oxide synthase 2
ISO
mRNA:altered expression:thoracic aorta
RGD
PMID:17287083
RGD:4891407
NCBI chr12:44,174,944...44,219,875
Ensembl chr12:44,174,948...44,218,146
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NOS3
nitric oxide synthase 3
ISO
RGD
PMID:17287083
RGD:4891407
NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943
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NOX4
NADPH oxidase 4
ISO
mRNA,protein:increased expression:gastrocnemius muscle
RGD
PMID:27998200
RGD:329853757
NCBI chr 9:22,622,105...22,776,691
Ensembl chr 9:22,624,212...22,776,534
G
NQO1
NAD(P)H quinone dehydrogenase 1
treatment
ISO
protein:increased expression:spinal cord (rat)
RGD
PMID:24747453 PMID:28881715
RGD:10412730 RGD:13434916
NCBI chr 6:17,292,962...17,302,593
Ensembl chr 6:17,292,770...17,302,590
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NRG1
neuregulin 1
exacerbates
ISO
RGD
PMID:26993800
RGD:11056189
NCBI chr15:52,625,550...53,688,003
Ensembl chr15:52,630,679...52,839,505
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NTF3
neurotrophin 3
ISO
RGD
PMID:16022868
RGD:4891112
NCBI chr 5:65,052,608...65,122,645
Ensembl chr 5:65,052,519...65,123,788
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NTRK1
neurotrophic receptor tyrosine kinase 1
ISO
mRNA:decreased expression:spinal cord
RGD
PMID:18585435
RGD:2308892
NCBI chr 4:93,219,509...93,237,944
Ensembl chr 4:93,219,516...93,255,981
G
NTRK2
neurotrophic receptor tyrosine kinase 2
ISO
RGD
PMID:20597685 PMID:22027236
RGD:5684547 RGD:5684898
NCBI chr10:30,030,050...30,429,938
Ensembl chr10:30,033,405...30,429,882
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NTRK3
neurotrophic receptor tyrosine kinase 3
ISO
mRNA:decreased expression:spinal cord
RGD
PMID:18585435
RGD:2308892
NCBI chr 1:191,535,262...191,941,675
Ensembl chr 1:191,535,301...191,925,327
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OLIG2
oligodendrocyte transcription factor 2
treatment
ISO
RGD
PMID:22173726 PMID:28452182
RGD:40902836 RGD:40902844
NCBI chr13:196,596,838...196,602,197
Ensembl chr13:196,599,822...196,600,793
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P2RX7
purinergic receptor P2X 7
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15258577
NCBI chr14:31,415,188...31,476,502
Ensembl chr14:31,415,193...31,476,472
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PARP1
poly(ADP-ribose) polymerase 1
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:15696051 PMID:21748659
RGD:10053608
NCBI chr10:14,203,157...14,241,164
Ensembl chr10:14,203,160...14,241,196
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PDCD1
programmed cell death 1
treatment
ISO
RGD
PMID:29665726
RGD:40886268
NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,258...140,347,478
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PDCD1LG2
programmed cell death 1 ligand 2
ISO
mRNA:increased expression:microglial cell
RGD
PMID:29665726
RGD:40886268
NCBI chr 1:216,564,428...216,600,333
Ensembl chr 1:216,553,105...216,657,170
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PDGFB
platelet derived growth factor subunit B
ISO
RGD
PMID:21568693
RGD:6482306
Ensembl chr 5:8,986,462...9,007,435
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PLA2G2A
phospholipase A2 group IIA
ISO
protein:increased expression:spinal cord
RGD
PMID:19306380 PMID:21868473
RGD:6482718 RGD:6482721
NCBI chr 6:78,327,728...78,339,546
Ensembl chr 6:78,327,319...78,330,699
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PLA2G6
phospholipase A2 group VI
ISO
protein:increased expression:spinal cord
RGD
PMID:21868473
RGD:6482718
NCBI chr 5:9,713,809...9,777,921
Ensembl chr 5:9,713,873...9,777,918
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PLAU
plasminogen activator, urokinase
ISO
RGD
PMID:21573723
RGD:6483797
NCBI chr14:76,629,313...76,635,173
Ensembl chr14:76,629,299...76,635,172
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PLAUR
plasminogen activator, urokinase receptor
ISO
RGD
PMID:21573723
RGD:6483797
NCBI chr 6:50,489,773...50,505,453
Ensembl chr 6:50,489,777...50,505,418
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PON1
paraoxonase 1
treatment
ISO
RGD
PMID:12897486
RGD:8547682
NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723
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PPARD
peroxisome proliferator activated receptor delta
ISO
RGD
PMID:20058304
RGD:2324875
NCBI chr 7:31,222,533...31,295,221
Ensembl chr 7:31,222,585...31,295,211
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PPARGC1A
PPARG coactivator 1 alpha
ISO
RGD
PMID:22208735
RGD:6484263
NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,946,992
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PPP1CC
protein phosphatase 1 catalytic subunit gamma
ISO
protein:increased expression:spinal cord, astrocyte, microglial cell
RGD
PMID:29033188
RGD:13514047
NCBI chr14:32,071,472...32,091,267
Ensembl chr14:32,070,545...32,091,499
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PPP1R15A
protein phosphatase 1 regulatory subunit 15A
ISO
mRNA:increased expression:spinal cord (rat) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:17578450 PMID:29793971
RGD:9999410
NCBI chr 6:54,172,038...54,175,461
Ensembl chr 6:54,172,050...54,175,463
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PRKCG
protein kinase C gamma
ISO
protein:decreased expression:spinal cord (mouse)
RGD
PMID:10501452
RGD:28867228
NCBI chr 6:56,213,479...56,235,683
Ensembl chr 6:56,213,480...56,234,210
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PTEN
phosphatase and tensin homolog
ISO
mRNA:increased expression:spinal cord:
RGD
PMID:28601045
RGD:156420142
NCBI chr14:99,929,590...100,021,619
G
PTGS1
prostaglandin-endoperoxide synthase 1
ISO
protein:increased expression:microglia, macrophage
RGD
PMID:11063829 PMID:17184185
RGD:5688221 RGD:5688246
NCBI chr 1:262,456,106...262,482,159
Ensembl chr 1:262,456,155...262,483,035
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
RGD
PMID:18606213
RGD:5135219
NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884
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PTPRZ1
protein tyrosine phosphatase receptor type Z1
treatment
ISO
RGD
PMID:12895450 PMID:15016081 PMID:18065151
RGD:9589823 RGD:9590113 RGD:9590124
NCBI chr18:25,046,027...25,228,276
Ensembl chr18:25,045,742...25,168,053
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RAD21
RAD21 cohesin complex component
treatment
ISO
RGD
PMID:33741460
RGD:243065262
NCBI chr 4:21,772,821...21,802,453
Ensembl chr 4:21,772,855...21,802,715
G
RARA
retinoic acid receptor alpha
ISO
RGD
PMID:16420438
RGD:2314291
NCBI chr12:22,047,449...22,085,759
Ensembl chr12:22,047,443...22,085,673
G
RBMX
RNA binding motif protein X-linked
ISO
RGD
PMID:23180094
RGD:10053723
NCBI chr X:111,965,859...111,974,544
Ensembl chr X:111,962,633...111,974,472
G
RELA
RELA proto-oncogene, NF-kB subunit
ISO
RGD
PMID:17918744
RGD:2298849
NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469
G
RGMA
repulsive guidance molecule BMP co-receptor a
treatment
ISO
RGD
PMID:16585268
RGD:9850138
NCBI chr 7:85,921,524...85,968,887
Ensembl chr 7:85,921,594...85,968,888
G
RHOA
ras homolog family member A
ISO
mRNA,protein:increased expression:spinal cord:
RGD
PMID:27893610
RGD:243048440
NCBI chr13:31,918,484...31,991,207
Ensembl chr13:31,918,834...31,986,607
G
ROBO1
roundabout guidance receptor 1
ISO
mRNA,protein:increased expression:spinal cord:
RGD
PMID:27893610
RGD:243048440
NCBI chr13:175,348,223...176,479,482
Ensembl chr13:175,348,410...176,479,481
G
RPSA
ribosomal protein SA
ISO
RGD
PMID:19196078
RGD:11041651
NCBI chr13:24,072,551...24,081,536
Ensembl chr13:24,072,527...24,081,541
G
RYR1
ryanodine receptor 1
ISO
protein:hyperoxidation,hypernitrosylation:gastrocnemius muscle
RGD
PMID:27998200
RGD:329853757
NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458
G
SCN3A
sodium voltage-gated channel alpha subunit 3
ISO
RGD
PMID:16109750 PMID:16718433
RGD:2317320 RGD:2317321
NCBI chr15:71,717,330...71,824,190
Ensembl chr15:71,717,334...71,824,160
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SERPINC1
serpin family C member 1
treatment
ISO
RGD
PMID:15792522
RGD:1599333
NCBI chr 9:116,181,988...116,193,100
Ensembl chr 9:116,181,670...116,193,201
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SHH
sonic hedgehog signaling molecule
treatment
ISO
RGD
PMID:24837681
RGD:12879409
NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,994...2,555,484
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SIAH1
siah E3 ubiquitin protein ligase 1
treatment
ISO
RGD
PMID:27256506
RGD:13792677
NCBI chr 6:36,337,770...36,365,784
Ensembl chr 6:36,342,872...36,371,383
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SLC25A27
solute carrier family 25 member 27
ISO
protein:increased expression:spinal cord
RGD
PMID:18534681
RGD:6482843
NCBI chr 7:41,426,161...41,457,887
Ensembl chr 7:41,426,170...41,457,883
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SLC7A5
solute carrier family 7 member 5
ISO
protein:increased expression:spinal cord
RGD
PMID:19388351
RGD:151361131
NCBI chr 6:1,545,940...1,574,298
Ensembl chr 6:1,545,944...1,574,285
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SLIT1
slit guidance ligand 1
ISO
RGD
PMID:16262652
RGD:2316136
NCBI chr14:108,446,003...108,624,508
Ensembl chr14:108,446,004...108,624,302
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SLIT2
slit guidance ligand 2
ISO
mRNA, protein:increased expression:spinal cord mRNA,protein:decreased expression:spinal cord:
RGD
PMID:19783284 PMID:27893610
RGD:2316127 RGD:243048440
NCBI chr 8:14,758,426...15,149,515
Ensembl chr 8:14,758,335...15,149,510
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SLIT3
slit guidance ligand 3
ISO
RGD
PMID:16262652
RGD:2316136
NCBI chr16:54,551,536...55,221,427
Ensembl chr16:54,553,426...55,220,296
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SMURF1
SMAD specific E3 ubiquitin protein ligase 1
ISO
protein:increased expression:spinal cord
RGD
PMID:23595775
RGD:10412063
NCBI chr 3:6,037,732...6,142,569
Ensembl chr 3:6,037,741...6,142,575
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SOCS2
suppressor of cytokine signaling 2
ISO
RGD
PMID:11723173
RGD:2298928
NCBI chr 5:89,581,081...89,587,424
Ensembl chr 5:89,581,090...89,584,581
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SOD1
superoxide dismutase 1
treatment
ISO
CTD Direct Evidence: therapeutic human gene in a rat model human protein in a rat model
CTD RGD
PMID:16689664 PMID:17457363 PMID:18722523
RGD:8655939 RGD:8655990
NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729
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SOX2
SRY-box transcription factor 2
ISO
mRNA, protein:increased expression:spinal cord
RGD
PMID:23169458
RGD:8661675
NCBI chr13:119,668,476...119,669,435
Ensembl chr13:119,668,476...119,669,435
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SPARC
secreted protein acidic and cysteine rich
ISO
RGD
PMID:17611274
RGD:2300052
NCBI chr16:71,368,164...71,380,972
Ensembl chr16:71,357,586...71,381,161
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SPP1
secreted phosphoprotein 1
ISO
RGD
PMID:15592854
RGD:6483848
NCBI chr 8:131,077,786...131,085,334
Ensembl chr 8:131,077,786...131,085,340
G
SQSTM1
sequestosome 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29793971
NCBI chr 2:78,752,768...78,763,998
Ensembl chr 2:78,752,771...78,763,938
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TACR1
tachykinin receptor 1
ISO
RGD
PMID:18945947
RGD:2304258
NCBI chr 3:67,839,367...68,021,733
Ensembl chr 3:67,839,411...68,021,724
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TBP
TATA-box binding protein
ISO
protein:increased expression:spinal cord, astrocyte, microglial cell
RGD
PMID:24710803
RGD:9681729
NCBI chr 1:5,669...23,675
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TERT
telomerase reverse transcriptase
ISO
mRNA, protein:increased expression:spinal cord
RGD
PMID:15798365 PMID:23793903
RGD:11038671 RGD:2291993
NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421
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TGFB1
transforming growth factor beta 1
ISO
RGD
PMID:15145083
RGD:2302103
NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046
G
TGFB2
transforming growth factor beta 2
ISO
RGD
PMID:15145083
RGD:2302103
NCBI chr10:8,306,136...8,435,307
Ensembl chr10:8,305,539...8,390,341
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THBD
thrombomodulin
ISO
RGD
PMID:15307903
RGD:1580060
NCBI chr17:30,219,870...30,223,499
Ensembl chr17:30,217,303...30,224,099
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THBS1
thrombospondin 1
ISO
protein:increased expression:spinal cord
RGD
PMID:19719963
RGD:2317939
NCBI chr 1:131,728,781...131,746,098
Ensembl chr 1:131,728,784...131,746,115
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TLR1
toll like receptor 1
treatment
ISO
mRNA:increased expression:spinal cord (mouse)
RGD
PMID:21970496
RGD:7246886
NCBI chr 8:30,147,600...30,155,454
Ensembl chr 8:30,147,624...30,155,466
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TLR4
toll like receptor 4
severity
ISO
RGD
PMID:25990044
RGD:14700556
NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
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TNC
tenascin C
ISO
mRNA:increased expression:spinal cord
RGD
PMID:11085900
RGD:4889619
NCBI chr 1:255,533,235...255,630,381
Ensembl chr 1:255,533,238...255,630,376
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TNF
tumor necrosis factor
ISO
RGD
PMID:20633123
RGD:5131936
NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416
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TNFRSF1A
TNF receptor superfamily member 1A
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:16083358
RGD:1624185
NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909
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TP53
tumor protein p53
ISO
protein:increased expression:spinal cord
RGD
PMID:23595775
RGD:10412063
NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818
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TRAF7
TNF receptor associated factor 7
ISO
mRNA, protein:increased expression:spinal cord
RGD
PMID:30100091
RGD:151356968
NCBI chr 3:39,811,803...39,828,450
Ensembl chr 3:39,810,606...39,828,395
G
TRPA1
transient receptor potential cation channel subfamily A member 1
ISO
mRNA,protein:increased expression:urinary bladder, dorsal root ganglion:
RGD
PMID:21367919
RGD:10043365
NCBI chr 4:63,493,374...63,558,486
Ensembl chr 4:63,508,104...63,558,484
G
TRPM4
transient receptor potential cation channel subfamily M member 4
treatment
ISO
RGD
PMID:19169264 PMID:25763638
RGD:10003030 RGD:12791993
NCBI chr 6:54,342,774...54,377,557
Ensembl chr 6:54,342,784...54,377,155
G
ULK1
unc-51 like autophagy activating kinase 1
ISO
protein:increased expression:neuron, axon
RGD
PMID:25040536
RGD:11553820
NCBI chr14:23,423,693...23,448,130
Ensembl chr14:23,423,698...23,448,136
G
VEGFA
vascular endothelial growth factor A
ISO
protein:increased expression:spinal cord CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:21092735
RGD:5148013
NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
G
VHL
von Hippel-Lindau tumor suppressor
ISO
RGD
PMID:20125055
RGD:2325181
NCBI chr13:66,334,535...66,342,401
Ensembl chr13:66,334,591...66,342,654
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VIM
vimentin
ISO
protein:increased expression:spinal cord
RGD
PMID:10225952 PMID:21250919
RGD:6480471 RGD:6480511
NCBI chr10:43,516,441...43,526,172
Ensembl chr10:43,517,307...43,526,170
G
VWF
von Willebrand factor
ISO
RGD
PMID:25771801
RGD:13673888
NCBI chr 5:64,516,627...64,655,938
Ensembl chr 5:64,519,186...65,002,452
G
XBP1
X-box binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29793971
NCBI chr14:46,011,239...46,016,526
Ensembl chr14:46,008,377...46,016,526
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XDH
xanthine dehydrogenase
ISO
protein:increased expression:spinal cord
RGD
PMID:1649310
RGD:13209021
NCBI chr 3:107,987,060...108,052,043
Ensembl chr 3:107,987,126...108,053,169
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XYLT1
xylosyltransferase 1
ISO
RGD
PMID:18765417
RGD:2313145
NCBI chr 3:27,158,438...27,492,629
Ensembl chr 3:27,158,878...27,492,762
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BTG2
BTG anti-proliferation factor 2
ISO
RGD
PMID:14697320
RGD:2289074
NCBI chr 9:64,033,853...64,037,795
Ensembl chr 9:64,031,832...64,035,837
G
PARP1
poly(ADP-ribose) polymerase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15696051
NCBI chr10:14,203,157...14,241,164
Ensembl chr10:14,203,160...14,241,196
G
BAD
BCL2 associated agonist of cell death
treatment
ISO
RGD
PMID:23643992
RGD:10053660
NCBI chr 2:7,831,192...7,842,864
Ensembl chr 2:7,830,920...7,842,863
G
BDNF
brain derived neurotrophic factor
treatment
ISO
RGD
PMID:24361987
RGD:10059358
NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,624,048...32,679,765
G
BECN1
beclin 1
treatment
ISO
RGD
PMID:25374587
RGD:11561952
NCBI chr12:20,041,914...20,054,249
Ensembl chr12:20,041,956...20,054,373
G
CDK5
cyclin dependent kinase 5
treatment
ISO
RGD
PMID:25301568
RGD:13782374
NCBI chr18:6,166,914...6,171,157
G
CDK5R1
cyclin dependent kinase 5 regulatory subunit 1
treatment
ISO
RGD
PMID:25301568
RGD:13782374
NCBI chr12:42,456,063...42,494,494
Ensembl chr12:42,493,392...42,494,413
G
CREB1
cAMP responsive element binding protein 1
treatment
ISO
RGD
PMID:17368520 PMID:29310813
RGD:155226865 RGD:155226868
NCBI chr15:110,705,548...110,773,037
Ensembl chr15:110,705,496...110,771,728
G
CXCL12
C-X-C motif chemokine ligand 12
ISO
RGD
PMID:27760212
RGD:12910551
NCBI chr14:91,516,383...91,543,857
Ensembl chr14:91,516,431...91,552,752
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CXCR4
C-X-C motif chemokine receptor 4
ISO
RGD
PMID:27760212
RGD:12910551
NCBI chr15:15,663,652...15,666,706
Ensembl chr15:15,663,494...15,667,232
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GAPDH
glyceraldehyde-3-phosphate dehydrogenase
treatment
ISO
RGD
PMID:30195603
RGD:13792615
NCBI chr 5:64,129,678...64,135,194
Ensembl chr 5:64,129,679...64,133,991
G
HSPA5
heat shock protein family A (Hsp70) member 5
treatment
ISO
protein:increased expression:spinal cord:
RGD
PMID:24463125
RGD:11354961
NCBI chr 1:265,930,044...265,934,959
Ensembl chr 1:265,930,045...265,934,894
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PROC
protein C, inactivator of coagulation factors Va and VIIIa
treatment
ISO
RGD
PMID:10903607
RGD:11100044
NCBI chr15:25,043,543...25,054,310
Ensembl chr15:25,043,545...25,056,595
G
SIAH1
siah E3 ubiquitin protein ligase 1
treatment
ISO
RGD
PMID:30195603
RGD:13792615
NCBI chr 6:36,337,770...36,365,784
Ensembl chr 6:36,342,872...36,371,383
G
TLR4
toll like receptor 4
ISO
RGD
PMID:27760212
RGD:12910551
NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,058,970
G
AARS1
alanyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar
PMID:28492532
NCBI chr 6:13,298,336...13,321,423
Ensembl chr 6:13,298,330...13,321,383
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ANKRD1
ankyrin repeat domain 1
ISO
RGD
PMID:14516314
RGD:1578366
NCBI chr14:102,603,777...102,612,857
Ensembl chr14:102,603,777...102,612,839
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AR
androgen receptor
ISO
RGD
PMID:10400640
RGD:1578680
NCBI chr X:53,609,113...53,806,778
Ensembl chr X:53,609,176...53,800,677
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BICD2
BICD cargo adaptor 2
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy
ClinVar
PMID:8114789 PMID:22628388 PMID:23664116 PMID:23664119 PMID:23664120 PMID:25497877 PMID:25741868 PMID:27784775 PMID:28251916 PMID:28492532 More...
NCBI chr 3:42,393,270...42,456,821
Ensembl chr 3:42,393,277...42,456,782
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DPP6
dipeptidyl peptidase like 6
susceptibility
ISO
DNA:SNP:intron: (rs10260404) (human)
RGD
PMID:19332697
RGD:5687182
NCBI chr18:3,148,479...3,905,845
Ensembl chr18:3,148,483...4,054,118
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DST
dystonin
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar
PMID:16199547 PMID:25059916 PMID:28492532
NCBI chr 7:28,812,423...29,300,149
Ensembl chr 7:28,812,252...29,300,152
G
DYNC1H1
dynein cytoplasmic 1 heavy chain 1
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy | ClinVar Annotator: match by term: Spinal muscular atrophy
ClinVar
PMID:25512093 PMID:28492532
G
ETFDH
electron transfer flavoprotein dehydrogenase
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar
NCBI chr 8:47,608,499...47,655,889
Ensembl chr 8:47,608,772...47,657,436
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FBLN5
fibulin 5
ISO
ClinVar Annotator: match by term: Proximal spinal muscular atrophy
ClinVar
NCBI chr 7:113,423,629...113,526,412
Ensembl chr 7:113,423,632...113,512,198
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FBXO38
F-box protein 38
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar
PMID:28492532
NCBI chr 2:149,674,300...149,722,875
Ensembl chr 2:149,674,448...149,722,865
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FUS
FUS RNA binding protein
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar
NCBI chr 3:17,314,936...17,326,663
Ensembl chr 3:17,314,332...17,326,637
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GARS1
glycyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar
PMID:12690580 PMID:16014653 PMID:16534118 PMID:16769947 PMID:17035524 PMID:17101916 PMID:17545306 PMID:17595294 PMID:17663003 PMID:19329989 PMID:20301420 PMID:24604904 PMID:24627108 PMID:25168514 PMID:25476837 PMID:25614874 PMID:25741868 PMID:26392352 PMID:26467025 PMID:27008886 PMID:27582484 PMID:27790088 PMID:28160950 PMID:28166811 PMID:28251916 PMID:28492532 PMID:28594869 PMID:29520015 PMID:29648643 PMID:29858556 PMID:31827005 PMID:31832804 PMID:31985473 PMID:32376792 PMID:32909314 More...
NCBI chr18:42,311,711...42,352,201
Ensembl chr18:42,311,576...42,352,162
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HDAC4
histone deacetylase 4
ISO
mRNA:increased expression:muscle:
RGD
PMID:22798624
RGD:9681458
NCBI chr15:138,378,237...138,657,266
Ensembl chr15:138,381,635...138,614,301
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HEXB
hexosaminidase subunit beta
ISO
DNA,protein:point_mutations:CDS:compound heterozygosity for A619G/I207V and A1367C/Y456S
RGD
PMID:1720305
RGD:1599424
NCBI chr 2:83,745,263...83,784,762
Ensembl chr 2:83,744,627...83,784,759
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IGHMBP2
immunoglobulin mu DNA binding protein 2
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy | ClinVar Annotator: match by term: Spinal muscular atrophy
ClinVar
PMID:14506069 PMID:14681881 PMID:15108294 PMID:15290238 PMID:16199547 PMID:16765827 PMID:16964485 PMID:17431882 PMID:18802676 PMID:19158098 PMID:21353777 PMID:22157136 PMID:23566544 PMID:24033266 PMID:24388491 PMID:25326635 PMID:25439726 PMID:25473036 PMID:25568292 PMID:25741868 PMID:26392352 PMID:26467025 PMID:26922252 PMID:28065684 PMID:28397221 PMID:28492532 PMID:30409445 PMID:31178897 PMID:32376792 More...
NCBI chr 2:4,169,510...4,194,699
Ensembl chr 2:4,171,344...4,194,525
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KCNB1
potassium voltage-gated channel subfamily B member 1
ISO
protein:decreased expression:second lumbar spinal cord segment, motor neuron, neuronal cell body (mouse)
RGD
PMID:28504671
RGD:126908005
NCBI chr17:51,032,163...51,152,566
Ensembl chr17:51,039,987...51,142,644
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LITAF
lipopolysaccharide induced TNF factor
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar
NCBI chr 3:31,482,605...31,576,211
Ensembl chr 3:31,482,353...31,579,082
G
MARS1
methionyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar
PMID:28492532
NCBI chr 5:22,752,405...22,785,509
Ensembl chr 5:22,752,374...22,785,501
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MORC2
MORC family CW-type zinc finger 2
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar
PMID:7964809 PMID:12601114 PMID:25741868 PMID:26497905 PMID:26659848 PMID:26912637 PMID:27105897 PMID:27105987 PMID:28492532 PMID:28581500 PMID:28771897 PMID:29440755 PMID:30624633 More...
NCBI chr14:47,755,264...47,800,432
Ensembl chr14:47,755,267...47,799,628
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NEFL
neurofilament light chain
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar
NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,991,331...8,997,112
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PECAM1
platelet and endothelial cell adhesion molecule 1
ISO
protein:decreased expression:levator auris longus, transversus abdominis (mouse)
RGD
PMID:22153987
RGD:6767297
NCBI chr12:14,667,643...14,723,296
Ensembl chr12:14,649,044...14,723,293
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PLEKHG5
pleckstrin homology and RhoGEF domain containing G5
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532
NCBI chr 6:67,316,818...67,373,787
Ensembl chr 6:67,321,534...67,362,838
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PMP22
peripheral myelin protein 22
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr12:58,679,773...58,734,195
Ensembl chr12:58,679,775...58,707,925
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PRX
periaxin
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar
PMID:28492532
NCBI chr 6:48,675,230...48,691,760
Ensembl chr 6:48,675,418...48,685,851
G
SCO2
synthesis of cytochrome C oxidase 2
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy
ClinVar
PMID:2005900 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 5:220,801...222,678
Ensembl chr 5:220,814...225,307
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SETX
senataxin
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy | ClinVar Annotator: match by term: Proximal spinal muscular atrophy
ClinVar
PMID:9467005 PMID:9497266 PMID:15106121 PMID:21438761 PMID:21494555 PMID:21576111 PMID:22088787 PMID:24105744 PMID:24244371 PMID:25741868 PMID:28492532 More...
NCBI chr 1:272,093,449...272,170,857
Ensembl chr 1:272,095,358...272,170,747
G
SH3TC2
SH3 domain and tetratricopeptide repeats 2
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar
PMID:16199547 PMID:20220177 PMID:25614874 PMID:27068304 PMID:28492532 PMID:31827005 More...
NCBI chr 2:150,183,480...150,247,747
Ensembl chr 2:150,183,485...150,247,637
G
SLC5A7
solute carrier family 5 member 7
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar
PMID:28492532
NCBI chr 3:47,994,116...48,020,744
Ensembl chr 3:47,996,335...48,022,379
G
SMN1
survival of motor neuron 1, telomeric
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy
ClinVar
PMID:7813012 PMID:9536098 PMID:9590291 PMID:10205265 PMID:10500148 PMID:10556301 PMID:10679938 PMID:10732817 PMID:11078511 PMID:11572858 PMID:11839954 PMID:12374765 PMID:12833158 PMID:14715275 PMID:14749338 PMID:15459957 PMID:15580564 PMID:15975577 PMID:17049859 PMID:17576681 PMID:17635841 PMID:18155522 PMID:18572081 PMID:19050931 PMID:19663601 PMID:20442745 PMID:21362338 PMID:21542063 PMID:21584334 PMID:21673580 PMID:22994313 PMID:23022347 PMID:23615451 PMID:24844453 PMID:25144193 PMID:25572663 PMID:25741868 PMID:25844556 PMID:26419278 PMID:26467025 PMID:26509018 PMID:26606804 PMID:27425821 PMID:27481219 PMID:28492532 PMID:30006696 PMID:31213135 PMID:31301241 PMID:32552676 PMID:32659294 PMID:32812185 PMID:33481221 PMID:33892995 PMID:34602496 More...
NCBI chr16:47,738,776...47,777,381
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SPG7
SPG7 matrix AAA peptidase subunit, paraplegin
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy | ClinVar Annotator: match by term: Proximal spinal muscular atrophy
ClinVar
PMID:11222789 PMID:18200586 PMID:18799786 PMID:21623769 PMID:22554690 PMID:22571692 PMID:22964162 PMID:23065789 PMID:23269439 PMID:23812641 PMID:24033266 PMID:24466038 PMID:24727571 PMID:24731568 PMID:25681447 PMID:25741868 PMID:25976027 PMID:26094131 PMID:26260707 PMID:26374131 PMID:26467025 PMID:26626314 PMID:26671083 PMID:26756429 PMID:27084228 PMID:27165006 PMID:27217339 PMID:27260292 PMID:28362824 PMID:28492532 PMID:28608987 PMID:28832565 PMID:29026558 PMID:29915382 PMID:30533525 PMID:31068484 PMID:31345272 PMID:31433872 PMID:31692161 PMID:32161564 More...
NCBI chr 6:414,930...439,206
Ensembl chr 6:414,932...439,212
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SPTAN1
spectrin alpha, non-erythrocytic 1
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar
PMID:25741868 PMID:28492532 PMID:30548380 PMID:31332438 PMID:32811770 PMID:33578420 PMID:34590414 More...
NCBI chr 1:268,936,120...269,002,261
Ensembl chr 1:268,936,025...269,002,256
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SV2A
synaptic vesicle glycoprotein 2A
ISO
protein:decreased expression:transversus abdominis muscle, axon terminus (mouse)
RGD
PMID:28173138
RGD:11535337
NCBI chr 4:99,138,319...99,153,153
Ensembl chr 4:99,138,342...99,153,149
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SV2B
synaptic vesicle glycoprotein 2B
ISO
protein:decreased expression:multiple (mouse)
RGD
PMID:28173138
RGD:11535337
NCBI chr 7:87,564,380...87,767,247
Ensembl chr 7:87,568,026...87,766,335
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SV2C
synaptic vesicle glycoprotein 2C
ISO
protein:decreased expression:transversus abdominis muscle, axon terminus (mouse)
RGD
PMID:28173138
RGD:11535337
NCBI chr 2:84,996,697...85,235,827
Ensembl chr 2:84,996,716...85,236,130
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SYT2
synaptotagmin 2
ISO
protein:decreased expression:multiple (mouse)
RGD
PMID:28173138
RGD:11535337
NCBI chr10:24,638,645...24,727,198
Ensembl chr10:24,638,704...24,669,846
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TDRKH
tudor and KH domain containing
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar
PMID:30503856
NCBI chr 4:97,415,891...97,438,262
Ensembl chr 4:97,415,914...97,438,691
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TLL2
tolloid like 2
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy
ClinVar
PMID:25741868
NCBI chr14:107,812,938...107,961,192
Ensembl chr14:107,812,945...107,961,155
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TNFRSF25
TNF receptor superfamily member 25
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar
NCBI chr 6:67,316,818...67,321,442
Ensembl chr 6:67,316,825...67,321,442
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TRPV4
transient receptor potential cation channel subfamily V member 4
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar
PMID:20037586 PMID:20037587 PMID:20037588 PMID:20460441 PMID:21336783 PMID:22702953 PMID:24575025 PMID:24789864 PMID:24963089 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27751652 PMID:28251916 PMID:28492532 More...
NCBI chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,578
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VAPB
VAMP associated protein B and C
onset
ISO
DNA:missense mutation:cds:p.P56S (human) ClinVar Annotator: match by term: Spinal Muscular Atrophy, Dominant
RGD ClinVar
PMID:15372378
RGD:5688230
NCBI chr17:58,594,749...58,644,925
Ensembl chr17:58,594,749...58,644,914
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VRK1
VRK serine/threonine kinase 1
ISO
ClinVar Annotator: match by term: Distal spinal muscular atrophy
ClinVar
PMID:18414213 PMID:25741868 PMID:27281532 PMID:28492532 PMID:31090908 PMID:31527692 PMID:35641352 More...
NCBI chr 7:117,942,929...118,025,991
Ensembl chr 7:117,942,973...118,028,923
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TRIP4
thyroid hormone receptor interactor 4
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy with congenital bone fractures 1 | ClinVar Annotator: match by term: TRIP4-related condition
OMIM ClinVar
PMID:25741868 PMID:26924529 PMID:28492532
NCBI chr 1:107,588,778...107,654,679
Ensembl chr 1:107,588,492...107,654,639
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ASCC1
activating signal cointegrator 1 complex subunit 1
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy with congenital bone fractures 2
OMIM ClinVar
PMID:8677029 PMID:16199547 PMID:21791690 PMID:25741868 PMID:26924529 PMID:28218388 PMID:28492532 PMID:28749478 PMID:30327447 PMID:31680123 PMID:31880396 PMID:33931933 PMID:34302381 More...
NCBI chr14:74,975,163...75,109,283
Ensembl chr14:74,975,165...75,083,634
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DYNC1H1
dynein cytoplasmic 1 heavy chain 1
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy with lower extremity predominance
ClinVar
PMID:23664120 PMID:25512093 PMID:25609763 PMID:25741868 PMID:26100331 PMID:27066557 PMID:28492532 PMID:29671837 PMID:32788638 PMID:36175372 More...
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BICD2
BICD cargo adaptor 2
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 3:42,393,270...42,456,821
Ensembl chr 3:42,393,277...42,456,782
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DYNC1H1
dynein cytoplasmic 1 heavy chain 1
ISO
ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, CHILDHOOD, PROXIMAL, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant
OMIM ClinVar
PMID:9536098 PMID:10862709 PMID:12730604 PMID:17576681 PMID:18414213 PMID:20697106 PMID:21102439 PMID:21820100 PMID:22459677 PMID:22847149 PMID:23603762 PMID:23664119 PMID:24033266 PMID:25326635 PMID:25484024 PMID:25497877 PMID:25512093 PMID:25609763 PMID:25700176 PMID:25741868 PMID:26100331 PMID:26344056 PMID:26392352 PMID:26467025 PMID:26633542 PMID:26846447 PMID:27331017 PMID:27549087 PMID:28196890 PMID:28492532 PMID:28554554 PMID:28602352 PMID:29314763 PMID:29379136 PMID:30122514 PMID:30168217 PMID:30687093 PMID:31364990 PMID:31618753 PMID:32656949 More...
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ASPN
asporin
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 3:42,165,553...42,192,902
Ensembl chr 3:42,165,561...42,192,813
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BICD2
BICD cargo adaptor 2
ISO
ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant
OMIM ClinVar
PMID:7887410 PMID:8114789 PMID:8981948 PMID:9536098 PMID:9713859 PMID:11241493 PMID:17576681 PMID:21208200 PMID:21494555 PMID:22628388 PMID:23664116 PMID:23664119 PMID:23664120 PMID:24002164 PMID:24336790 PMID:25326635 PMID:25497877 PMID:25741868 PMID:25741909 PMID:25802885 PMID:26467025 PMID:26752647 PMID:26998597 PMID:27549087 PMID:27751653 PMID:27784775 PMID:28251916 PMID:28335620 PMID:28492532 PMID:28635954 PMID:28832565 PMID:28883039 PMID:29273277 PMID:29528393 PMID:30373780 PMID:31561939 PMID:31692161 PMID:32056343 PMID:32057122 PMID:32581362 PMID:33060286 More...
NCBI chr 3:42,393,270...42,456,821
Ensembl chr 3:42,393,277...42,456,782
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CENPP
centromere protein P
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 3:42,053,074...42,309,745
Ensembl chr 3:42,053,058...42,308,429
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ECM2
extracellular matrix protein 2
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 3:42,205,246...42,243,746
Ensembl chr 3:42,203,171...42,243,547
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IARS1
isoleucyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 3:41,945,846...42,022,610
Ensembl chr 3:41,945,770...42,022,760
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IPPK
inositol-pentakisphosphate 2-kinase
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 3:42,308,001...42,368,162
Ensembl chr 3:42,308,005...42,368,118
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LOC110259104
putative serine protease 47
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant
ClinVar
PMID:28492532
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NOL8
nucleolar protein 8
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 3:42,026,233...42,053,049
Ensembl chr 3:42,026,278...42,052,773
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OGN
osteoglycin
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 3:42,116,521...42,135,940
Ensembl chr 3:42,116,526...42,135,939
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OMD
osteomodulin
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant
ClinVar
PMID:28492532
NCBI chr 3:42,142,603...42,155,032
Ensembl chr 3:42,142,658...42,154,583
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SPTLC1
serine palmitoyltransferase long chain base subunit 1
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant
ClinVar
PMID:28492532
NCBI chr14:3,081,964...3,138,113
Ensembl chr14:3,081,972...3,138,103
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TIA1
TIA1 cytotoxic granule associated RNA binding protein
ISO
ClinVar Annotator: match by term: Gower's muscular dystrophy
ClinVar
PMID:25741868 PMID:26467025 PMID:26627873 PMID:28492532 PMID:28817800 PMID:31996268 PMID:36112647 More...
NCBI chr 3:72,240,535...72,281,811
Ensembl chr 3:72,240,600...72,277,296
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BICD2
BICD cargo adaptor 2
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant | ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant
OMIM ClinVar
PMID:21208200 PMID:25741868 PMID:27751653 PMID:28492532 PMID:28635954 PMID:30054298 More...
NCBI chr 3:42,393,270...42,456,821
Ensembl chr 3:42,393,277...42,456,782
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MT-ND6
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
ISO
DNA:missense mutation: :m.14459G>A (p.A72V) (human)
RGD
PMID:8016139
RGD:8657128
NCBI chr MT:14,739...15,266
Ensembl chr MT:14,739...15,266
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ASAH1
N-acylsphingosine amidohydrolase 1
ISO
ClinVar Annotator: match by term: Hereditary myoclonus and progressive distal muscular atrophy | ClinVar Annotator: match by term: MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY
OMIM ClinVar
PMID:16199547 PMID:22703880 PMID:24033266 PMID:24164096 PMID:24355074 PMID:25326635 PMID:25578555 PMID:25741868 PMID:25847462 PMID:26467025 PMID:26526000 PMID:27026573 PMID:27723502 PMID:28251733 PMID:28492532 PMID:28733637 PMID:29169047 PMID:29358611 PMID:30291339 PMID:32449975 PMID:34240417 More...
NCBI chr17:5,712,048...5,749,811
Ensembl chr17:5,712,058...5,758,821
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PLEKHG5
pleckstrin homology and RhoGEF domain containing G5
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy, facioscapulohumeral type
ClinVar
NCBI chr 6:67,316,818...67,373,787
Ensembl chr 6:67,321,534...67,362,838
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GARS1
glycyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy, infantile, James type
OMIM ClinVar
PMID:17101916 PMID:20301420 PMID:22462675 PMID:24604904 PMID:25168514 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31985473 PMID:32181591 More...
NCBI chr18:42,311,711...42,352,201
Ensembl chr18:42,311,576...42,352,162
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C14H22orf15
chromosome 14 C22orf15 homolog
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy, jokela type
ClinVar
PMID:28492532
NCBI chr14:49,924,196...49,926,033
Ensembl chr14:49,923,613...49,926,264
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CHCHD10
coiled-coil-helix-coiled-coil-helix domain containing 10
ISO
ClinVar Annotator: match by term: Spinal muscular atrophy, Jokela type | ClinVar Annotator: match by term: Spinal muscular atrophy, jokela type
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:21715705 PMID:22535186 PMID:25113787 PMID:25155093 PMID:25193783 PMID:25261972 PMID:25348631 PMID:25428574 PMID:25576308 PMID:25681414 PMID:25700176 PMID:25726362 PMID:25741868 PMID:25833818 PMID:26152333 PMID:26224640 PMID:26719383 PMID:27066538 PMID:27810918 PMID:28069311 PMID:28492532 PMID:28585542 PMID:29112723 PMID:29121267 PMID:29315381 PMID:29540477 PMID:29789341 PMID:30014597 PMID:31690696 PMID:33749723 More...
NCBI chr14:49,921,600...49,923,529
Ensembl chr14:49,921,595...49,923,526
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FGF14
fibroblast growth factor 14
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia 27A
OMIM ClinVar
PMID:12489043 PMID:15470364 PMID:17978045 PMID:25566820 PMID:25741868 PMID:30017992 PMID:32162847 More...
NCBI chr11:70,251,374...70,861,941
Ensembl chr11:70,251,446...70,422,192
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FGF14
fibroblast growth factor 14
ISO
OMIM
NCBI chr11:70,251,374...70,861,941
Ensembl chr11:70,251,446...70,422,192
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CACNA1G
calcium voltage-gated channel subunit alpha1 G
ISO
ClinVar Annotator: match by term: CACNA1G-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:29878067 PMID:30792901 PMID:31217264 PMID:31836334 PMID:34248568 More...
NCBI chr12:26,838,633...26,912,344
Ensembl chr12:26,844,079...26,912,110
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GRM1
glutamate metabotropic receptor 1
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia 44
OMIM ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:28886343
NCBI chr 1:19,183,221...19,572,853
Ensembl chr 1:19,183,218...19,572,853
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CDH1
cadherin 1
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia 45
ClinVar
PMID:25741868
NCBI chr 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986
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FAT2
FAT atypical cadherin 2
ISO
ClinVar Annotator: match by term: FAT2-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 45
OMIM ClinVar
PMID:20301317 PMID:25741868 PMID:28492532 PMID:29053796 PMID:29847346
NCBI chr16:71,448,491...71,531,664
Ensembl chr16:71,469,847...71,530,501
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SLC36A1
solute carrier family 36 member 1
ISO
ClinVar Annotator: match by term: FAT2-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 45
ClinVar
PMID:20301317 PMID:25741868 PMID:28492532 PMID:29053796 PMID:29847346
NCBI chr16:71,540,646...71,589,532
Ensembl chr16:71,538,296...71,589,456
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PLD3
phospholipase D family member 3
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia 46
OMIM ClinVar
PMID:8595484 PMID:15197604 PMID:15469949 PMID:16770524 PMID:22847150 PMID:24011642 PMID:25741868 PMID:26059842 PMID:28492532 PMID:29053796 PMID:32376792 More...
NCBI chr 6:48,645,347...48,667,394
Ensembl chr 6:48,645,417...48,669,430
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PRX
periaxin
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia 46
ClinVar
PMID:15197604 PMID:15469949 PMID:16770524 PMID:22847150 PMID:24011642 PMID:25741868 PMID:26059842 PMID:28492532 PMID:32376792 More...
NCBI chr 6:48,675,230...48,691,760
Ensembl chr 6:48,675,418...48,685,851
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NPTX1
neuronal pentraxin 1
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia 50
OMIM ClinVar
PMID:25741868 PMID:34788392 PMID:35285082 PMID:35560436
NCBI chr12:2,036,727...2,046,202
Ensembl chr12:2,036,810...2,046,193
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PRNP
prion protein
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia and plaque-like deposits
ClinVar
PMID:1353341 PMID:1363810 PMID:1672296 PMID:1674033 PMID:1677164 PMID:1682813 PMID:1684089 PMID:1971924 PMID:2180366 PMID:2190844 PMID:2378641 PMID:2564168 PMID:2572450 PMID:2783132 PMID:7902693 PMID:7902971 PMID:7908444 PMID:8137139 PMID:8461023 PMID:8698234 PMID:9643750 PMID:9653185 PMID:9748018 PMID:9751723 PMID:9789072 PMID:10079068 PMID:10437852 PMID:10526198 PMID:10581230 PMID:10953203 PMID:10970892 PMID:11488277 PMID:11506406 PMID:11506411 PMID:11749972 PMID:11756597 PMID:11840201 PMID:11967261 PMID:12172394 PMID:12451207 PMID:12601712 PMID:12867116 PMID:12891686 PMID:14520676 PMID:14562104 PMID:14761942 PMID:14872044 PMID:14970845 PMID:15277640 PMID:15539564 PMID:15967879 PMID:15987701 PMID:16025285 PMID:16217673 PMID:16315279 PMID:16369046 PMID:16380907 PMID:16391566 PMID:16565881 PMID:16969862 PMID:17029785 PMID:17494694 PMID:17666888 PMID:18955686 PMID:19422533 PMID:19422537 PMID:19680558 PMID:19696976 PMID:19703264 PMID:19923577 PMID:20301407 PMID:20583301 PMID:20592908 PMID:21269331 PMID:21839748 PMID:21909425 PMID:21983261 PMID:22097954 PMID:22108575 PMID:22561193 PMID:22947063 PMID:22999564 PMID:23132868 PMID:23176099 PMID:23320809 PMID:23527023 PMID:23555862 PMID:23668481 PMID:24583440 PMID:24838726 PMID:25482600 PMID:25741868 PMID:25818675 PMID:25959220 PMID:26268049 PMID:26323476 PMID:26578040 PMID:26791950 PMID:27341347 PMID:28492532 PMID:29382530 PMID:29887139 More...
NCBI chr17:13,694,195...13,705,126
Ensembl chr17:13,694,190...13,705,124
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ATXN1
ataxin 1
ISO
ClinVar Annotator: match by term: SPINOCEREBELLAR ATROPHY I | ClinVar Annotator: match by term: Spinocerebellar ataxia type 1
OMIM ClinVar
PMID:25741868
NCBI chr 7:12,299,938...12,730,850
Ensembl chr 7:12,301,013...12,457,450
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ATXN10
ataxin 10
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia type 10
OMIM ClinVar
PMID:25741868
NCBI chr 5:3,637,794...3,798,204
Ensembl chr 5:3,637,111...3,798,201
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TTBK2
tau tubulin kinase 2
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia type 11 | ClinVar Annotator: match by term: TTBK2-related condition
OMIM ClinVar
PMID:18037885 PMID:19533200 PMID:20301723 PMID:22073189 PMID:24808823 PMID:25741868 PMID:26063658 PMID:26467025 PMID:27744525 PMID:28492532 More...
NCBI chr 1:128,489,676...128,640,094
Ensembl chr 1:128,489,744...128,635,511
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PPP2R2B
protein phosphatase 2 regulatory subunit Bbeta
ISO
ClinVar Annotator: match by term: PPP2R2B-Related Disorder | ClinVar Annotator: match by term: Spinocerebellar ataxia type 12
OMIM ClinVar
PMID:25741868
NCBI chr 2:147,938,074...148,422,825
Ensembl chr 2:147,937,442...148,411,731
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KCNC3
potassium voltage-gated channel subfamily C member 3
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia type 13
OMIM ClinVar
PMID:10820125 PMID:16135769 PMID:16501573 PMID:18592334 PMID:19953606 PMID:20712895 PMID:21479265 PMID:21543613 PMID:22289912 PMID:22736459 PMID:22933745 PMID:23215817 PMID:23734863 PMID:23912307 PMID:24116147 PMID:25152487 PMID:25497598 PMID:25741868 PMID:25756792 PMID:25981959 PMID:26442672 PMID:26467025 PMID:28216058 PMID:28467418 PMID:28492532 PMID:30862666 PMID:32644043 More...
NCBI chr 6:55,204,045...55,216,875
Ensembl chr 6:55,204,101...55,217,074
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PRKCG
protein kinase C gamma
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia type 14
OMIM ClinVar
PMID:9545390 PMID:12164726 PMID:12644968 PMID:14676051 PMID:14694043 PMID:15313841 PMID:15618281 PMID:15824357 PMID:15841389 PMID:15964845 PMID:16189624 PMID:16193476 PMID:16547918 PMID:16649092 PMID:16763984 PMID:17024314 PMID:17344846 PMID:17562946 PMID:17659643 PMID:18005063 PMID:18499672 PMID:18577575 PMID:19561170 PMID:20301573 PMID:21434874 PMID:21666345 PMID:21937992 PMID:24134140 PMID:24744737 PMID:24937631 PMID:25217572 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28738819 PMID:30093405 PMID:30363848 More...
NCBI chr 6:56,213,479...56,235,683
Ensembl chr 6:56,213,480...56,234,210
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ITPR1
inositol 1,4,5-trisphosphate receptor type 1
ISO
ClinVar Annotator: match by term: Spinocerebellar Ataxia Type 15 | ClinVar Annotator: match by term: Spinocerebellar ataxia type 15/16
OMIM ClinVar
PMID:10664581 PMID:12824425 PMID:14981189 PMID:17932120 PMID:18579805 PMID:20669319 PMID:21681106 PMID:23315928 PMID:24091540 PMID:25326635 PMID:25741868 PMID:25794864 PMID:26467025 PMID:27062503 PMID:28492532 PMID:28659154 PMID:28826917 PMID:29925855 PMID:30301590 PMID:30371827 PMID:30842224 PMID:31632679 PMID:31785789 PMID:32695065 PMID:33163565 PMID:34008892 PMID:35743164 PMID:36233161 PMID:36585006 More...
NCBI chr13:61,068,131...61,398,918
Ensembl chr13:61,068,126...61,398,912
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LOC100514009
histone-lysine N-methyltransferase SETMAR
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia type 15/16
ClinVar
PMID:17932120 PMID:20669319 PMID:21681106
NCBI chr13:60,914,412...60,933,064
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ATP5F1B
ATP synthase F1 subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413982
NCBI chr 5:21,984,750...21,992,393
Ensembl chr 5:21,984,580...21,992,407
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HMOX1
heme oxygenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413982
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HSPA5
heat shock protein family A (Hsp70) member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413982
NCBI chr 1:265,930,044...265,934,959
Ensembl chr 1:265,930,045...265,934,894
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HSPA8
heat shock protein family A (Hsp70) member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413982
NCBI chr 9:49,982,278...49,986,760
Ensembl chr 9:49,982,284...49,990,508
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HYOU1
hypoxia up-regulated 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413982
NCBI chr 9:46,264,929...46,277,056
Ensembl chr 9:46,264,933...46,276,995
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NQO1
NAD(P)H quinone dehydrogenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413982
NCBI chr 6:17,292,962...17,302,593
Ensembl chr 6:17,292,770...17,302,590
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P4HB
prolyl 4-hydroxylase subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413982
NCBI chr12:1,121,816...1,131,291
Ensembl chr12:1,121,824...1,131,289
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PDIA3
protein disulfide isomerase family A member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413982
NCBI chr 1:127,786,174...127,814,096
Ensembl chr 1:127,785,772...127,814,196
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TBP
TATA-box binding protein
susceptibility
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia type 17
ClinVar OMIM
PMID:25741868
NCBI chr 1:5,669...23,675
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EEF2
eukaryotic translation elongation factor 2
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia type 19/22
ClinVar
PMID:25741868
NCBI chr 2:74,746,541...74,756,687
Ensembl chr 2:74,747,080...74,756,680
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KCND3
potassium voltage-gated channel subfamily D member 3
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia type 19/22
OMIM ClinVar
PMID:9536098 PMID:11284128 PMID:17576681 PMID:17581856 PMID:21349352 PMID:21640846 PMID:21703448 PMID:22284586 PMID:22336521 PMID:22402074 PMID:22457051 PMID:22584458 PMID:22840528 PMID:23280837 PMID:23280838 PMID:23400760 PMID:23414114 PMID:23834499 PMID:23838598 PMID:24762397 PMID:25175087 PMID:25214526 PMID:25401298 PMID:25410959 PMID:25741868 PMID:25741869 PMID:26016905 PMID:26189493 PMID:26220970 PMID:26467025 PMID:26633542 PMID:28074886 PMID:28166811 PMID:28341588 PMID:28362824 PMID:28444220 PMID:28492532 PMID:28895081 PMID:29053796 PMID:29062094 PMID:29482223 PMID:29527639 PMID:29953624 PMID:30662450 PMID:30776697 PMID:30847666 PMID:31017293 PMID:31130284 PMID:31195250 PMID:31293010 PMID:31695177 PMID:31737537 PMID:32709127 PMID:32818936 PMID:32921676 PMID:34085946 PMID:34087979 PMID:34361012 More...
NCBI chr 4:108,394,687...108,621,514
Ensembl chr 4:108,246,237...108,621,510
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LAMA4
laminin subunit alpha 4
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia type 19/22
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:78,071,990...78,224,564
Ensembl chr 1:78,071,458...78,224,365
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ATXN2
ataxin 2
susceptibility
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia type 2
ClinVar OMIM
PMID:25741868
NCBI chr14:32,656,537...32,772,082
Ensembl chr14:32,665,122...32,771,813
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SCYL1
SCY1 like pseudokinase 1
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia type 21
ClinVar
PMID:26581903 PMID:30531813
NCBI chr 2:6,720,047...6,733,477
Ensembl chr 2:6,716,115...6,733,438
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TMEM240
transmembrane protein 240
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia type 21
OMIM ClinVar
PMID:11160961 PMID:25070513 PMID:25741868 PMID:28492532 PMID:30522958 PMID:33851480 More...
NCBI chr 6:63,721,655...63,727,457
Ensembl chr 6:63,721,656...63,727,526
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PDYN
prodynorphin
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia type 23
OMIM ClinVar
PMID:21035104 PMID:22243190 PMID:22287014 PMID:23108490 PMID:23355175 PMID:23471613 PMID:25741868 PMID:26467025 PMID:27528516 PMID:28492532 PMID:35401678 More...
NCBI chr17:33,505,075...33,521,534
Ensembl chr17:33,505,079...33,521,532
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PNPT1
polyribonucleotide nucleotidyltransferase 1
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia type 25
OMIM ClinVar
PMID:11080643 PMID:14705117 PMID:24088041 PMID:25326635 PMID:25457163 PMID:25741868 PMID:26633545 PMID:28492532 PMID:30046113 PMID:30831263 PMID:31752325 PMID:32020600 PMID:32313153 PMID:33199448 PMID:35411967 More...
NCBI chr 3:85,595,356...85,639,665
Ensembl chr 3:85,595,392...85,639,690
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EEF2
eukaryotic translation elongation factor 2
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia type 26
OMIM ClinVar
PMID:15732118 PMID:23001565 PMID:25741868 PMID:26467025 PMID:28492532 PMID:33355653 More...
NCBI chr 2:74,746,541...74,756,687
Ensembl chr 2:74,747,080...74,756,680
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FGF14
fibroblast growth factor 14
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia type 27
ClinVar
PMID:5470364 PMID:12489043 PMID:15470364 PMID:21681106 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30017992 PMID:194719761 More...
NCBI chr11:70,251,374...70,861,941
Ensembl chr11:70,251,446...70,422,192
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ITGBL1
integrin subunit beta like 1
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia type 27
ClinVar
PMID:25741868
NCBI chr11:70,042,051...70,246,974
Ensembl chr11:70,042,232...70,246,968
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AFG3L2
AFG3 like matrix AAA peptidase subunit 2
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia type 28
OMIM ClinVar
PMID:16251216 PMID:20208537 PMID:20354562 PMID:20725928 PMID:23777634 PMID:25401298 PMID:25741868 PMID:25741869 PMID:26454370 PMID:26467025 PMID:26633542 PMID:27165006 PMID:28444220 PMID:28492532 PMID:29053796 PMID:30773800 PMID:31111429 PMID:31327635 PMID:33956305 PMID:34333379 More...
NCBI chr 6:97,200,890...97,234,577
Ensembl chr 6:97,200,922...97,235,366
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TUBB6
tubulin beta 6 class V
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia type 28
ClinVar
PMID:25741868 PMID:26467025 PMID:27165006 PMID:28492532
NCBI chr 6:97,233,639...97,240,692
Ensembl chr 6:97,229,868...97,240,662
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ITPR1
inositol 1,4,5-trisphosphate receptor type 1
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia type 29
OMIM ClinVar
PMID:10664581 PMID:12824425 PMID:15623688 PMID:21465660 PMID:23315928 PMID:23806086 PMID:24088041 PMID:24091540 PMID:25326635 PMID:25326637 PMID:25741868 PMID:25794864 PMID:25981959 PMID:26257172 PMID:26467025 PMID:27062503 PMID:27108798 PMID:27572814 PMID:28488678 PMID:28492532 PMID:28620721 PMID:28659154 PMID:28826917 PMID:29389947 PMID:29925855 PMID:30301590 PMID:30371827 PMID:30778698 PMID:30842224 PMID:31632679 PMID:32499604 PMID:32695065 PMID:33163565 PMID:33948933 PMID:35351177 PMID:35743164 PMID:36233161 PMID:36585006 PMID:37164302 More...
NCBI chr13:61,068,131...61,398,918
Ensembl chr13:61,068,126...61,398,912
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BEAN1
brain expressed associated with NEDD4 1
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia type 31
OMIM ClinVar
PMID:19878914
NCBI chr 6:27,176,023...27,217,749
Ensembl chr 6:27,176,024...27,215,367
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PLEKHG4
pleckstrin homology and RhoGEF domain containing G4
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia type 31
ClinVar
PMID:16001362 PMID:16614795 PMID:16780885
NCBI chr 6:27,921,598...27,932,680
Ensembl chr 6:27,923,617...27,933,153
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ELOVL4
ELOVL fatty acid elongase 4
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia type 34
OMIM ClinVar
PMID:5048218 PMID:24566826 PMID:25741868 PMID:26010696 PMID:28492532 PMID:28559085 PMID:30065956 PMID:31105016 PMID:31692161 PMID:31750392 PMID:32211516 PMID:34234304 PMID:34623043 More...
NCBI chr 1:86,163,845...86,196,036
Ensembl chr 1:86,163,868...86,195,987
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TGM6
transglutaminase 6
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia type 35
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:21106500 PMID:21907015 PMID:22287014 PMID:22554020 PMID:23206699 PMID:24755948 PMID:25133958 PMID:25253745 PMID:25741868 PMID:26467025 PMID:28135719 PMID:28492532 PMID:28934387 PMID:29482223 PMID:30229425 PMID:30670339 PMID:31785789 PMID:31920494 PMID:32259886 PMID:32426513 PMID:33378849 PMID:34008892 PMID:35401678 More...
NCBI chr17:33,106,974...33,142,548
Ensembl chr17:33,107,568...33,156,324
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NOP56
NOP56 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia type 36
OMIM ClinVar
PMID:25741868
NCBI chr17:32,960,099...32,965,396
Ensembl chr17:32,960,102...32,965,370
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DAB1
DAB adaptor protein 1
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia type 37
OMIM ClinVar
PMID:23700170 PMID:25741868 PMID:28686858 PMID:29939198
NCBI chr 6:154,156,595...155,374,403
Ensembl chr 6:154,936,460...155,374,399
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ELOVL5
ELOVL fatty acid elongase 5
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia type 38
OMIM ClinVar
PMID:25065913 PMID:25741868 PMID:28492532 PMID:31294938
NCBI chr 7:46,860,768...46,932,945
Ensembl chr 7:46,860,770...46,932,926
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ZFHX3
zinc finger homeobox 3
ISO
OMIM
NCBI chr 6:15,693,987...15,941,301
Ensembl chr 6:15,698,199...15,863,270
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CCDC88C
coiled-coil domain containing 88C
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia type 40
OMIM ClinVar
PMID:18414213 PMID:25062847 PMID:25741868 PMID:25741909 PMID:28492532
NCBI chr 7:112,917,436...113,030,442
Ensembl chr 7:112,917,534...113,045,682
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SPTBN2
spectrin beta, non-erythrocytic 2
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia type 5
OMIM ClinVar
PMID:16429157 PMID:20368622 PMID:20603325 PMID:22843192 PMID:22914369 PMID:25057192 PMID:25741868 PMID:25741869 PMID:25981959 PMID:26467025 PMID:26633542 PMID:28492532 PMID:29389947 PMID:29590070 PMID:31066025 PMID:31721007 PMID:33318253 PMID:33801522 PMID:38177409 More...
NCBI chr 2:5,683,414...5,739,418
Ensembl chr 2:5,695,836...5,739,415
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CACNA1A
calcium voltage-gated channel subunit alpha1 A
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia type 6
OMIM ClinVar
PMID:8898206 PMID:9329229 PMID:9345107 PMID:10371528 PMID:10408534 PMID:10734061 PMID:10987655 PMID:11176968 PMID:11439943 PMID:11742003 PMID:12056940 PMID:12707077 PMID:14718690 PMID:15173248 PMID:15240985 PMID:15452324 PMID:15985579 PMID:16306128 PMID:16325861 PMID:16787562 PMID:17142831 PMID:17292920 PMID:17588611 PMID:18056581 PMID:18354422 PMID:18434528 PMID:18437043 PMID:18597946 PMID:19344873 PMID:19486177 PMID:19624685 PMID:19811514 PMID:20080591 PMID:20097664 PMID:20301562 PMID:20301674 PMID:20837964 PMID:21183743 PMID:21734179 PMID:22249839 PMID:22527033 PMID:22784462 PMID:23183922 PMID:23407676 PMID:23831250 PMID:24033266 PMID:24486772 PMID:24498617 PMID:24996492 PMID:25326635 PMID:25481746 PMID:25596066 PMID:25735478 PMID:25741868 PMID:25741909 PMID:25758715 PMID:25851414 PMID:25969684 PMID:26467025 PMID:26716990 PMID:26814174 PMID:26912519 PMID:27066515 PMID:27250579 PMID:27400454 PMID:27959697 PMID:28007337 PMID:28252636 PMID:28444220 PMID:28492532 PMID:28742085 PMID:28900389 PMID:28978442 PMID:29053796 PMID:29056246 PMID:29062094 PMID:29100083 PMID:29165669 PMID:29444203 PMID:29482223 PMID:29997391 PMID:30011838 PMID:30063100 PMID:30142438 PMID:30283815 PMID:31115040 PMID:31139143 PMID:31468518 PMID:31487502 PMID:31719132 PMID:32170034 PMID:33084218 PMID:33163565 PMID:33425808 PMID:33737904 PMID:33790770 PMID:34102571 PMID:34356170 PMID:35401678 PMID:36530930 PMID:97053792 More...
NCBI chr 2:65,491,784...65,871,068
Ensembl chr 2:65,514,509...65,871,182
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ATXN7
ataxin 7
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia 7
OMIM ClinVar
PMID:25741868
NCBI chr13:45,356,350...45,514,816
Ensembl chr13:45,401,127...45,498,180
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TDP1
tyrosyl-DNA phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
OMIM ClinVar
PMID:12244316 PMID:12470949 PMID:15111055 PMID:15920477 PMID:17948061 PMID:24355542 PMID:25741868 PMID:26392352 PMID:26467025 PMID:28492532 PMID:29641532 PMID:31130284 PMID:31182267 PMID:32371905 More...
NCBI chr 7:111,767,094...111,853,262
Ensembl chr 7:111,767,089...111,853,249
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APTX
aprataxin
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
ClinVar
PMID:24033266 PMID:25741868 PMID:26285866 PMID:26467025 PMID:28492532
NCBI chr10:33,470,089...33,495,584
Ensembl chr10:33,445,148...33,543,710
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SETX
senataxin
ISO
ClinVar Annotator: match by term: SETX-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
OMIM ClinVar
PMID:9467005 PMID:9497266 PMID:9536098 PMID:14770181 PMID:15106121 PMID:15732101 PMID:16644229 PMID:17096168 PMID:17159128 PMID:17576681 PMID:17720498 PMID:18058631 PMID:18414213 PMID:18625865 PMID:19377860 PMID:19569000 PMID:19696032 PMID:19744353 PMID:20540686 PMID:20981092 PMID:21190393 PMID:21438761 PMID:21576111 PMID:22088787 PMID:22995991 PMID:23129421 PMID:23566282 PMID:23757202 PMID:23806086 PMID:23881933 PMID:23941260 PMID:24033266 PMID:24088041 PMID:24105744 PMID:24244371 PMID:24760770 PMID:24814856 PMID:25025039 PMID:25116135 PMID:25174650 PMID:25182519 PMID:25299611 PMID:25326635 PMID:25353622 PMID:25382069 PMID:25525159 PMID:25741868 PMID:25802885 PMID:26257172 PMID:26467025 PMID:26601740 PMID:26633545 PMID:27013921 PMID:27165006 PMID:27790088 PMID:28130640 PMID:28245518 PMID:28492532 PMID:28642336 PMID:28708278 PMID:28832565 PMID:29170628 PMID:29411640 PMID:29482223 PMID:29650794 PMID:30198223 PMID:30220148 PMID:30564185 PMID:31325016 PMID:31429931 PMID:31589614 PMID:31692161 PMID:31957062 PMID:32028661 PMID:32166880 PMID:32253937 PMID:32397312 PMID:32409511 PMID:32729724 PMID:33098801 PMID:33770234 PMID:33956305 More...
NCBI chr 1:272,093,449...272,170,857
Ensembl chr 1:272,095,358...272,170,747
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COA7
cytochrome c oxidase assembly factor 7
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
OMIM ClinVar
PMID:25741868 PMID:27683825 PMID:28492532 PMID:29718187 PMID:30885959
NCBI chr 6:159,511,862...159,528,982
Ensembl chr 6:159,511,860...159,528,049
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POLG
DNA polymerase gamma, catalytic subunit
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia with epilepsy
ClinVar
PMID:632821 PMID:1582434 PMID:11431686 PMID:11571332 PMID:12565911 PMID:14635118 PMID:14694057 PMID:15122711 PMID:15477547 PMID:15689359 PMID:15824347 PMID:15917273 PMID:15929042 PMID:16024923 PMID:16080118 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16545482 PMID:16621917 PMID:16638794 PMID:16639411 PMID:16896309 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17452231 PMID:17894835 PMID:18294203 PMID:18321754 PMID:18487244 PMID:18500570 PMID:18546343 PMID:18546365 PMID:18783964 PMID:18828154 PMID:18991199 PMID:19010300 PMID:19103152 PMID:19125351 PMID:19251978 PMID:19501198 PMID:19538466 PMID:19566497 PMID:19578034 PMID:19752458 PMID:19766516 PMID:19813183 PMID:20138553 PMID:20142534 PMID:20153822 PMID:20301791 PMID:20438629 PMID:20576279 PMID:20691285 PMID:20818383 PMID:20837861 PMID:21235791 PMID:21236670 PMID:21276947 PMID:21357833 PMID:21455106 PMID:21515089 PMID:21647632 PMID:21686371 PMID:21880868 PMID:21956653 PMID:21993618 PMID:22006280 PMID:22166854 PMID:22189570 PMID:22342071 PMID:22616202 PMID:22711370 PMID:22931735 PMID:22995991 PMID:23212759 PMID:23248042 PMID:23250882 PMID:23430834 PMID:23448099 PMID:23783014 PMID:23808377 PMID:24033266 PMID:24122062 PMID:24272679 PMID:24725338 PMID:25025039 PMID:25065347 PMID:25286830 PMID:25497598 PMID:25585994 PMID:25713120 PMID:25741868 PMID:26077851 PMID:26104464 PMID:26169155 PMID:26467025 PMID:26607151 PMID:26735972 PMID:26755490 PMID:26942291 PMID:26942292 PMID:27290639 PMID:27422324 PMID:27822509 PMID:27838477 PMID:27987238 PMID:28130605 PMID:28206745 PMID:28471437 PMID:28480171 PMID:28492532 PMID:28634151 PMID:28771251 PMID:28812649 PMID:28837072 PMID:28865037 PMID:29272804 PMID:29358615 PMID:29423831 PMID:29474836 PMID:29482223 PMID:29574624 PMID:29588995 PMID:29655203 PMID:29712893 PMID:29920680 PMID:30021052 PMID:30167885 PMID:30306720 PMID:30369941 PMID:30423451 PMID:30843307 PMID:30860128 PMID:31164858 PMID:31475037 PMID:31589614 PMID:31980526 PMID:32391929 PMID:33469851 PMID:33473333 PMID:33726816 PMID:34782754 More...
NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844
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AFG3L2
AFG3 like matrix AAA peptidase subunit 2
ISO
ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 6:97,200,890...97,234,577
Ensembl chr 6:97,200,922...97,235,366
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ANO10
anoctamin 10
ISO
ClinVar Annotator: match by term: Spinocerebellar Ataxia, Recessive
ClinVar
PMID:24033266 PMID:25089919 PMID:25133958 PMID:25182700 PMID:25664549 PMID:25664551 PMID:25741868 PMID:26467025 PMID:27045840 PMID:27142713 PMID:28492532 PMID:29482223 PMID:29915382 PMID:30078120 PMID:30838263 More...
NCBI chr13:26,734,098...27,006,163
Ensembl chr13:26,734,107...27,006,539
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ATXN1
ataxin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11719269 PMID:16122429 PMID:17322884 PMID:18337722
NCBI chr 7:12,299,938...12,730,850
Ensembl chr 7:12,301,013...12,457,450
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ATXN10
ataxin 10
susceptibility
ISO
DNA:repeat:intron 9
RGD
PMID:11017075
RGD:1599410
NCBI chr 5:3,637,794...3,798,204
Ensembl chr 5:3,637,111...3,798,201
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ATXN1L
ataxin 1 like
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17322884
NCBI chr 6:14,836,732...14,848,474
Ensembl chr 6:14,836,752...14,848,422
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ATXN2
ataxin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19224595 PMID:20065139
NCBI chr14:32,656,537...32,772,082
Ensembl chr14:32,665,122...32,771,813
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ATXN7
ataxin 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25664129
NCBI chr13:45,356,350...45,514,816
Ensembl chr13:45,401,127...45,498,180
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CACNA1A
calcium voltage-gated channel subunit alpha1 A
onset
ISO
CTD Direct Evidence: marker/mechanism protein:altered expression:Purkinje cell: DNA:repeats:cds:
CTD RGD
PMID:8988170 PMID:10369863 PMID:10945665 PMID:11985388 PMID:16899342
RGD:10054421 RGD:10054466 RGD:1358570
NCBI chr 2:65,491,784...65,871,068
Ensembl chr 2:65,514,509...65,871,182
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CACNA1G
calcium voltage-gated channel subunit alpha1 G
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr12:26,838,633...26,912,344
Ensembl chr12:26,844,079...26,912,110
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CAPN1
calpain 1
ISO
Ataxia, spinocerebellar, CAPN1-related
OMIA
PMID:2061870 PMID:4747697 PMID:15320590 PMID:22634896 PMID:22872628 PMID:23741357 PMID:24736825 PMID:24736826 PMID:27153400 PMID:27259058 PMID:27320912 PMID:30650096 PMID:37341581 PMID:37905444 More...
NCBI chr 2:6,997,513...7,024,410
Ensembl chr 2:6,997,985...7,022,684
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CASP7
caspase 7
ISO
RGD
PMID:17646170
RGD:5684537
NCBI chr14:124,017,776...124,050,369
Ensembl chr14:124,019,164...124,050,365
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CCDC88C
coiled-coil domain containing 88C
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 7:112,917,436...113,030,442
Ensembl chr 7:112,917,534...113,045,682
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CIC
capicua transcriptional repressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18337722
NCBI chr 6:49,638,986...49,664,146
Ensembl chr 6:49,638,990...49,662,947
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COQ8A
coenzyme Q8A
ISO
ClinVar Annotator: match by term: Spinocerebellar Ataxia, Recessive
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:29482223
NCBI chr10:14,597,237...14,643,394
Ensembl chr10:14,596,599...14,643,772
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CWF19L1
CWF19 like cell cycle control factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr14:111,354,597...111,388,911
Ensembl chr14:111,354,603...111,387,737
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DYNC1H1
dynein cytoplasmic 1 heavy chain 1
ISO
ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant
ClinVar
PMID:18414213 PMID:24033266 PMID:25741868 PMID:26344056 PMID:26467025 PMID:28492532 More...
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ELOVL5
ELOVL fatty acid elongase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 7:46,860,768...46,932,945
Ensembl chr 7:46,860,770...46,932,926
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EP300
E1A binding protein p300
ISO
ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant
ClinVar
PMID:25741868 PMID:28492532 PMID:35401678
NCBI chr 5:7,311,165...7,394,515
Ensembl chr 5:7,311,171...7,393,760
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FAT1
FAT atypical cadherin 1
ISO
ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant
ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:8,466,099...8,580,715
Ensembl chr17:8,457,187...8,580,715
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FOXC1
forkhead box C1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19668217
NCBI chr 7:837,088...840,593
Ensembl chr 7:837,171...838,805
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GFI1
growth factor independent 1 transcriptional repressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16122429
NCBI chr 4:124,619,887...124,629,638
Ensembl chr 4:124,621,261...124,629,638
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GRID2
glutamate ionotropic receptor delta type subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 8:125,821,195...127,130,617
Ensembl chr 8:125,819,951...127,129,763
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GRM1
glutamate metabotropic receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:19,183,221...19,572,853
Ensembl chr 1:19,183,218...19,572,853
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ITPR1
inositol 1,4,5-trisphosphate receptor type 1
ISO
ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant
ClinVar
PMID:21367767 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr13:61,068,131...61,398,918
Ensembl chr13:61,068,126...61,398,912
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KAT2A
lysine acetyltransferase 2A
ISO
protein:increased expression:retina (mouse)
RGD
PMID:15932940
RGD:9590239
NCBI chr12:20,638,493...20,647,464
Ensembl chr12:20,638,497...20,647,461
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LRRK2
leucine rich repeat kinase 2
ISO
ClinVar Annotator: match by term: Spinocerebellar atrophy
ClinVar
PMID:18412265 PMID:18688798 PMID:18716801 PMID:18781329 PMID:19699188 PMID:20301387 PMID:20642453 PMID:21885347 PMID:25243190 PMID:26930193 PMID:28492532 More...
NCBI chr 5:71,800,337...71,945,828
Ensembl chr 5:71,800,225...71,945,828
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MME
membrane metalloendopeptidase
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr13:95,018,395...95,122,977
Ensembl chr13:95,019,081...95,126,045
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NOP56
NOP56 ribonucleoprotein
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr17:32,960,099...32,965,396
Ensembl chr17:32,960,102...32,965,370
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OPTN
optineurin
ISO
protein:increased expression:neuron, nucleus
RGD
PMID:22318854
RGD:6480499
NCBI chr10:48,532,029...48,582,952
Ensembl chr10:48,530,843...48,582,860
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POLG
DNA polymerase gamma, catalytic subunit
ISO
ClinVar Annotator: match by term: Spinocerebellar atrophy
ClinVar
PMID:17436221 PMID:18546365 PMID:19010300 PMID:19364868 PMID:19762913 PMID:19887119 PMID:20176107 PMID:21880868 PMID:23250882 PMID:23419467 PMID:24091540 PMID:25462018 PMID:25741868 PMID:25852747 PMID:26467025 PMID:27917773 PMID:28492532 PMID:28756246 PMID:28958595 PMID:29214156 PMID:29992832 PMID:30941926 PMID:30951992 PMID:31655921 PMID:31665838 PMID:32165824 PMID:32348839 PMID:32502631 PMID:34690748 PMID:35598585 More...
NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844
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PPP2R2B
protein phosphatase 2 regulatory subunit Bbeta
ISO
DNA:repeat, SNPs, haplotype:multiple CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:18940801 PMID:20629122
RGD:5686297
NCBI chr 2:147,938,074...148,422,825
Ensembl chr 2:147,937,442...148,411,731
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PRKCG
protein kinase C gamma
ISO
CTD Direct Evidence: marker/mechanism DNA:missense mutations:cds: (human)
CTD RGD
PMID:12644968 PMID:20398063
RGD:737790
NCBI chr 6:56,213,479...56,235,683
Ensembl chr 6:56,213,480...56,234,210
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RBM17
RNA binding motif protein 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18337722
NCBI chr10:64,886,433...64,909,006
Ensembl chr10:64,885,870...64,908,963
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RUBCN
rubicon autophagy regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr13:134,299,971...134,363,620
Ensembl chr13:134,299,152...134,353,374
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SCYL1
SCY1 like pseudokinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 2:6,720,047...6,733,477
Ensembl chr 2:6,716,115...6,733,438
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SNX14
sorting nexin 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:54,460,645...54,547,204
Ensembl chr 1:54,460,640...54,547,216
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SPTBN2
spectrin beta, non-erythrocytic 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 2:5,683,414...5,739,418
Ensembl chr 2:5,695,836...5,739,415
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STUB1
STIP1 homology and U-box containing protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 3:41,092,514...41,095,181
Ensembl chr 3:41,092,449...41,095,136
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SYT14
synaptotagmin 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 9:132,810,526...133,040,855
Ensembl chr 9:132,817,948...133,040,792
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TBP
TATA-box binding protein
onset
ISO
DNA:repeat:cds:g.172(CAG/CAA)47-55 (human)
RGD
PMID:11448935 PMID:21705419
RGD:5684014 RGD:5684015
NCBI chr 1:5,669...23,675
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TDP2
tyrosyl-DNA phosphodiesterase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 7:19,489,381...19,502,437
Ensembl chr 7:19,489,384...19,502,520
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TGM6
transglutaminase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr17:33,106,974...33,142,548
Ensembl chr17:33,107,568...33,156,324
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TRPC3
transient receptor potential cation channel subfamily C member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 8:102,129,539...102,206,512
Ensembl chr 8:102,129,611...102,206,946
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TTBK2
tau tubulin kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18037885
NCBI chr 1:128,489,676...128,640,094
Ensembl chr 1:128,489,744...128,635,511
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TWNK
twinkle mtDNA helicase
ISO
ClinVar Annotator: match by term: Spinocerebellar Ataxia, Recessive
ClinVar
PMID:21689831 PMID:25741868 PMID:28492532
NCBI chr14:112,068,463...112,076,169
Ensembl chr14:112,069,925...112,075,792
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UBA5
ubiquitin like modifier activating enzyme 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr13:73,831,485...73,859,781
Ensembl chr13:73,822,920...73,868,423
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VPS13D
vacuolar protein sorting 13 homolog D
ISO
ClinVar Annotator: match by term: Spinocerebellar atrophy
ClinVar
PMID:25741868
NCBI chr 6:72,256,865...72,514,256
Ensembl chr 6:72,256,828...72,510,058
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VWA3B
von Willebrand factor A domain containing 3B
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 3:55,949,534...56,173,597
Ensembl chr 3:55,950,591...56,171,718
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WWOX
WW domain containing oxidoreductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 6:8,910,209...9,871,048
Ensembl chr 6:8,910,138...9,871,053
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ZFHX3
zinc finger homeobox 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 6:15,693,987...15,941,301
Ensembl chr 6:15,698,199...15,863,270
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CTNNB1
catenin beta 1
ISO
ClinVar Annotator: match by term: Stiff-person syndrome, congenital
ClinVar
PMID:10192393 PMID:10391090 PMID:25157968 PMID:26619011
NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311
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GLRA1
glycine receptor alpha 1
ISO
ClinVar Annotator: match by term: Hereditary hyperekplexia
ClinVar
PMID:1334371 PMID:7518444 PMID:7611730 PMID:7881416 PMID:7981700 PMID:8298642 PMID:8733061 PMID:9009272 PMID:9536098 PMID:10514101 PMID:10817489 PMID:11389164 PMID:11702206 PMID:12169101 PMID:12746425 PMID:15365143 PMID:15771552 PMID:16078201 PMID:16199547 PMID:16236274 PMID:16941485 PMID:17536053 PMID:17576681 PMID:19073849 PMID:19732286 PMID:20631190 PMID:22532536 PMID:24033266 PMID:24108130 PMID:25036534 PMID:25333069 PMID:25568133 PMID:25741868 PMID:26733802 PMID:28122427 PMID:28138086 PMID:28174298 PMID:28492532 PMID:28617419 PMID:28985719 PMID:30078784 PMID:30182260 PMID:30866851 PMID:32695065 More...
NCBI chr16:71,140,751...71,236,867
Ensembl chr16:71,142,198...71,230,344
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GLRB
glycine receptor beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 8:45,912,869...46,034,455
Ensembl chr 8:45,912,938...46,034,448
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GPHN
gephyrin
ISO
ClinVar Annotator: match by term: Stiff-person syndrome, congenital
ClinVar
PMID:12684523 PMID:25741868 PMID:28492532 PMID:29948376
NCBI chr 7:90,345,726...90,913,625
Ensembl chr 7:90,346,714...90,916,455
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HSD17B4
hydroxysteroid 17-beta dehydrogenase 4
ISO
RGD
PMID:12225901
RGD:10411898
NCBI chr 2:123,313,445...123,401,386
Ensembl chr 2:123,313,448...123,402,709
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SLC6A5
solute carrier family 6 member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25480793
NCBI chr 2:38,767,447...38,826,891
Ensembl chr 2:38,767,501...38,826,783
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TRAK1
trafficking kinesin protein 1
ISO
OMIM:184850
MouseDO
NCBI chr13:25,773,345...25,934,770
Ensembl chr13:25,774,250...25,935,828
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CD40
CD40 molecule
treatment
ISO
RGD
PMID:16716410
RGD:2313422
NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
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CD40LG
CD40 ligand
treatment
ISO
protein:increased expression:cerebrospinal fluid
RGD
PMID:16716410
RGD:2313422
NCBI chr X:111,778,666...111,788,901
Ensembl chr X:111,778,493...111,789,709
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CACNA1A
calcium voltage-gated channel subunit alpha1 A
ISO
ClinVar Annotator: match by term: Subependymal giant-cell astrocytoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:65,491,784...65,871,068
Ensembl chr 2:65,514,509...65,871,182
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SCN9A
sodium voltage-gated channel alpha subunit 9
ISO
ClinVar Annotator: match by term: MORVAN DISEASE ClinVar Annotator: match by term: MORVAN DISEASE | ClinVar Annotator: match by term: Morvan disease
ClinVar
PMID:14985375 PMID:15385606 PMID:15955112 PMID:16865694 PMID:17167479 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18347287 PMID:18414213 PMID:18479393 PMID:18518989 PMID:18930999 PMID:19304393 PMID:19369487 PMID:19400878 PMID:19549232 PMID:19763161 PMID:20301342 PMID:20478850 PMID:20522430 PMID:20635406 PMID:21068128 PMID:21094958 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21698661 PMID:21719429 PMID:21939494 PMID:22035805 PMID:22136189 PMID:22495306 PMID:22539570 PMID:22604722 PMID:22826602 PMID:22995991 PMID:23016767 PMID:23020937 PMID:23129781 PMID:23184456 PMID:23280954 PMID:23292638 PMID:23450472 PMID:23559409 PMID:23662938 PMID:23874707 PMID:23895530 PMID:24033266 PMID:24088041 PMID:24650168 PMID:24776970 PMID:24817410 PMID:24820863 PMID:24848745 PMID:24876116 PMID:25250524 PMID:25253744 PMID:25309764 PMID:25316021 PMID:25326635 PMID:25333069 PMID:25439579 PMID:25492405 PMID:25524840 PMID:25741868 PMID:25852444 PMID:25993546 PMID:25995458 PMID:26068938 PMID:26264438 PMID:26284228 PMID:26392352 PMID:26467025 PMID:26633545 PMID:26675522 PMID:26920677 PMID:27301361 PMID:27491411 PMID:27504264 PMID:27608006 PMID:27843123 PMID:27884173 PMID:27956748 PMID:28073787 PMID:28202706 PMID:28235406 PMID:28440294 PMID:28492532 PMID:29068549 PMID:29176367 PMID:29264398 PMID:29358611 PMID:29500686 PMID:29911575 PMID:29961513 PMID:29978519 PMID:30316835 PMID:30478917 PMID:30569495 PMID:30642272 PMID:30795902 PMID:30834459 PMID:31193310 PMID:31780880 PMID:32581362 PMID:32613771 PMID:33216760 PMID:229911575 More...
NCBI chr15:72,745,706...72,912,352
Ensembl chr15:72,748,705...72,912,382
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WNK1
WNK lysine deficient protein kinase 1
ISO
ClinVar Annotator: match by term: Morvan disease
ClinVar
PMID:28492532
NCBI chr 5:68,000,792...68,142,533
Ensembl chr 5:68,000,905...68,140,755
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BRAF
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Occult spinal dysraphism sequence
ClinVar
PMID:4386970 PMID:5771505 PMID:16372351 PMID:16523510 PMID:16804887 PMID:16825433 PMID:17551924 PMID:18039235 PMID:18413255 PMID:19206169 PMID:23875798 PMID:24033266 PMID:24283439 PMID:25741868 PMID:31474318 More...
NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553
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AQP4
aquaporin 4
ISO
RGD
PMID:21771203 PMID:23999580
RGD:5148008 RGD:8696028
NCBI chr 6:111,407,632...111,422,169
Ensembl chr 6:111,407,639...111,422,109
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IL6
interleukin 6
ISO
protein:increased expression:serum, cerebral spinal fluid:
RGD
PMID:20128675
RGD:7829722
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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VPS37A
VPS37A subunit of ESCRT-I
ISO
ClinVar Annotator: match by term: Idiopathic transverse myelitis
ClinVar
PMID:25741868 PMID:28492532 PMID:29473047
NCBI chr17:4,949,632...5,014,842
Ensembl chr17:4,949,644...4,988,074
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C3
complement C3
ISO
protein:increased processing:plasma
RGD
PMID:7561187
RGD:11040775
NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
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CTLA4
cytotoxic T-lymphocyte associated protein 4
ISO
mRNA:decreased expression: T cell
RGD
PMID:20945034
RGD:38549361
NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
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CXCL8
C-X-C motif chemokine ligand 8
severity
ISO
protein:increased expression:plasma (human)
RGD
PMID:26800845
RGD:39939014
NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
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FOXP3
forkhead box P3
disease_progression
ISO
mRNA:decreased expression: T cell
RGD
PMID:20945034 PMID:28101786
RGD:38456004 RGD:38549361
NCBI chr X:43,303,777...43,328,164
Ensembl chr X:43,303,785...43,322,968
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HNRNPA1
heterogeneous nuclear ribonucleoprotein A1
ISO
RGD
PMID:11984596
RGD:10045967
NCBI chr 5:19,485,033...19,491,418
Ensembl chr 5:19,485,096...19,491,417
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IL21
interleukin 21
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:28378248
RGD:127285561
NCBI chr 8:101,532,742...101,540,712
Ensembl chr 8:101,532,531...101,541,713
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IL27
interleukin 27
ISO
associated with HTLV-I Infections;mRNA:decreased expression:blood (human)
RGD
PMID:24041428
RGD:126790519
NCBI chr 3:18,421,962...18,427,916
Ensembl chr 3:18,421,981...18,427,915
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IL29
interleukin 29 (interferon, lambda 1)
ISO
associated with HTLV-I Infections;mRNA:decreased expression:peripheral blood mononuclear cell (human)
RGD
PMID:29990995
RGD:126848769
NCBI chr17:51,484,658...51,485,233
Ensembl chr17:51,484,658...51,485,233
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KLRK1
killer cell lectin like receptor K1
susceptibility
ISO
DNA:SNPs:3'utr, 5'utr: (rs1049174,rs12821887,rs12819494) (human)
RGD
PMID:22170554
RGD:39018559
NCBI chr 5:61,646,691...61,655,386
Ensembl chr 5:61,647,043...61,656,192
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MMP2
matrix metallopeptidase 2
ISO
associated with Sjogren's Syndrome
RGD
PMID:10464559
RGD:8657078
NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982
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NFKB1
nuclear factor kappa B subunit 1
susceptibility
ISO
DNA:SNP:5'utr: (rs3138045) (human)
RGD
PMID:22170554
RGD:39018559
NCBI chr 8:118,391,010...118,478,927
Ensembl chr 8:118,390,638...118,506,691
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TNFRSF18
TNF receptor superfamily member 18
disease_progression
ISO
mRNA:decreased expression: T cell
RGD
PMID:20945034 PMID:28101786
RGD:38456004 RGD:38549361
NCBI chr 6:63,516,037...63,519,323
Ensembl chr 6:63,516,045...63,518,405
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ZEB1
zinc finger E-box binding homeobox 1
ISO
OMIM:159580
MouseDO
NCBI chr10:42,013,114...42,216,139
Ensembl chr10:42,013,084...42,214,205
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CRP
C-reactive protein, pentraxin-related
disease_progression
ISO
RGD
PMID:14636287
RGD:9491594
NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,793,350...90,805,218
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SMN1
survival of motor neuron 1, telomeric
ISO
ClinVar Annotator: match by term: Werdnig-Hoffmann disease
OMIM ClinVar
PMID:7813012 PMID:8922999 PMID:9147655 PMID:9158159 PMID:9590291 PMID:10205265 PMID:10500148 PMID:10556301 PMID:10679938 PMID:10732817 PMID:11078511 PMID:11313744 PMID:11572858 PMID:12374765 PMID:12833158 PMID:14715275 PMID:14749338 PMID:15249625 PMID:15580564 PMID:15975577 PMID:16301532 PMID:17049859 PMID:17635841 PMID:17998247 PMID:18155522 PMID:18172693 PMID:19050931 PMID:21209906 PMID:21329463 PMID:21584334 PMID:21673580 PMID:22101937 PMID:23136128 PMID:23615451 PMID:25144193 PMID:25525159 PMID:25741868 PMID:25844556 PMID:26467025 PMID:26509018 PMID:26606804 PMID:27425821 PMID:28570645 PMID:29982416 PMID:31156382 PMID:31301241 More...
NCBI chr16:47,738,776...47,777,381
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VPS54
VPS54 subunit of GARP complex
ISO
OMIM:253300
MouseDO
NCBI chr 3:77,856,093...77,978,194
Ensembl chr 3:77,856,138...77,975,429
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ATP7A
ATPase copper transporting alpha
ISO
ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, X-LINKED | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE
OMIM ClinVar
PMID:10570920 PMID:11241493 PMID:14985388 PMID:16083905 PMID:18414213 PMID:19153371 PMID:20045993 PMID:20170900 PMID:20652413 PMID:22210628 PMID:23281160 PMID:24033266 PMID:25428120 PMID:25741868 PMID:28119449 PMID:28492532 PMID:29653220 More...
NCBI chr X:61,972,544...62,110,058
Ensembl chr X:61,972,991...62,110,048
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ABCB7
ATP binding cassette subfamily B member 7
susceptibility
ISO
ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia | ClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxia DNA:missense mutation: :p.I400M (human)
OMIM ClinVar RGD
PMID:4045952 PMID:9536098 PMID:10196363 PMID:11050011 PMID:11843825 PMID:17576681 PMID:22398176 PMID:25741868 PMID:28492532 More...
RGD:1598600
NCBI chr X:60,186,559...60,313,098
Ensembl chr X:60,186,814...60,313,064
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ALAS2
5'-aminolevulinate synthase 2
ISO
ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia
ClinVar
NCBI chr X:47,871,519...47,896,041
Ensembl chr X:47,871,523...47,896,000
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PAGE2B
PAGE family member 2B
ISO
ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia
ClinVar
NCBI chr X:47,916,076...47,919,904
Ensembl chr X:47,916,069...47,919,898
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UBA1
ubiquitin like modifier activating enzyme 1
ISO
ClinVar Annotator: match by term: AMC, distal, X-linked | ClinVar Annotator: match by term: Infantile-onset X-linked spinal muscular atrophy | ClinVar Annotator: match by term: Spinal Muscular Atrophy, X-Linked Infantile | ClinVar Annotator: match by term: Spinal muscular atrophy, X-linked 2
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18179898 PMID:20301739 PMID:25075304 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29034082 PMID:32181232 PMID:33108101 PMID:33369814 PMID:33690815 PMID:33789873 PMID:34048852 PMID:34647982 PMID:34649277 PMID:35793467 PMID:36038944 PMID:36662445 More...
NCBI chr X:41,810,726...41,832,818
Ensembl chr X:41,814,101...41,832,812
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ZC4H2
zinc finger C4H2-type containing
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23623388
NCBI chr X:51,157,102...51,193,993
Ensembl chr X:51,157,105...51,193,980
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ABCB7
ATP binding cassette subfamily B member 7
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked
ClinVar
PMID:26242992
NCBI chr X:60,186,559...60,313,098
Ensembl chr X:60,186,814...60,313,064
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AMER1
APC membrane recruitment protein 1
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked
ClinVar
PMID:26242992 PMID:28492532
NCBI chr X:50,842,049...50,864,105
Ensembl chr X:50,844,683...50,864,032
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ATP2B3
ATPase plasma membrane Ca2+ transporting 3
ISO
ClinVar Annotator: match by term: X-linked progressive cerebellar ataxia
OMIM ClinVar
PMID:10797423 PMID:22912398 PMID:25326635 PMID:25741868 PMID:25741913 PMID:26633542 PMID:27435318 PMID:27632770 PMID:27653636 PMID:28492532 More...
NCBI chr X:124,318,874...124,357,653
Ensembl chr X:124,301,713...124,357,653
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ATP7A
ATPase copper transporting alpha
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked
ClinVar
PMID:26242992
NCBI chr X:61,972,544...62,110,058
Ensembl chr X:61,972,991...62,110,048
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NHSL2
NHS like 2
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked
ClinVar
PMID:26242992
NCBI chr X:57,741,172...58,028,266
Ensembl chr X:57,742,114...58,030,951
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PHKA1
phosphorylase kinase regulatory subunit alpha 1
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked
ClinVar
PMID:26242992 PMID:28492532
NCBI chr X:58,456,097...58,583,216
Ensembl chr X:58,455,939...58,583,216
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RTL9
retrotransposon Gag like 9
ISO
ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked
ClinVar
PMID:26242992
NCBI chr X:90,553,099...90,565,001
Ensembl chr X:90,559,021...90,565,035
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