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Ampd1 |
adenosine monophosphate deaminase 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938
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Ap4b1 |
adaptor related protein complex 4 subunit beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: AP4-related intellectual disability and spastic paraplegia | ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
OMIM CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21440262 PMID:21620353 PMID:22290197 PMID:24700674 PMID:24781758 PMID:25167861 PMID:25693842 PMID:25741868 PMID:26544806 PMID:26637979 PMID:26795593 PMID:27625858 PMID:28492532 PMID:29193663 PMID:31915823 PMID:32964447 PMID:32979048 PMID:33594065 More...
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NCBI chr 2:191,318,485...191,330,531
Ensembl chr 2:191,318,482...191,330,531
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Bcas2 |
BCAS2, pre-mRNA processing factor |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:190,692,503...190,700,386
Ensembl chr 2:190,692,461...190,700,389
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Bcl2l15 |
Bcl2-like 15 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:191,338,959...191,344,078
Ensembl chr 2:191,338,959...191,344,078
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Capza1 |
capping actin protein of muscle Z-line subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:192,319,696...192,364,755
Ensembl chr 2:192,319,702...192,364,480
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Csde1 |
cold shock domain containing E1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:190,546,015...190,582,787
Ensembl chr 2:190,554,980...190,582,784
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Cttnbp2nl |
CTTNBP2 N-terminal like |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:192,507,963...192,554,548
Ensembl chr 2:192,507,963...192,541,101
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Dclre1b |
DNA cross-link repair 1B |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:25741868 PMID:28492532 |
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NCBI chr 2:191,309,909...191,318,399
Ensembl chr 2:191,309,913...191,318,423
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Dennd2c |
DENN domain containing 2C |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:190,622,357...190,690,489
Ensembl chr 2:190,622,940...190,690,488
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Hipk1 |
homeodomain interacting protein kinase 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:191,248,817...191,299,787
Ensembl chr 2:191,248,817...191,298,902
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Kcnd3 |
potassium voltage-gated channel subfamily D member 3 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:192,937,950...193,155,345
Ensembl chr 2:192,937,950...193,155,345
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Lrig2 |
leucine-rich repeats and immunoglobulin-like domains 2 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:191,947,322...192,012,996
Ensembl chr 2:191,949,819...192,012,579
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Magi3 |
membrane associated guanylate kinase, WW and PDZ domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:191,514,726...191,717,048
Ensembl chr 2:191,518,506...191,716,735
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Mov10 |
Mov10 RNA helicase |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:192,292,041...192,315,142
Ensembl chr 2:192,293,470...192,315,083
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Nras |
NRAS proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Olfml3 |
olfactomedin-like 3 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:191,244,221...191,247,050
Ensembl chr 2:191,244,221...191,247,050
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Phtf1 |
putative homeodomain transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:191,470,849...191,537,399
Ensembl chr 2:191,473,130...191,512,078
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Ppm1j |
protein phosphatase, Mg2+/Mn2+ dependent, 1J |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:192,278,597...192,283,883
Ensembl chr 2:192,278,517...192,283,882
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Ptpn22 |
protein tyrosine phosphatase, non-receptor type 22 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
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Rhoc |
ras homolog family member C |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:192,287,065...192,293,292
Ensembl chr 2:192,287,130...192,295,306
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Rsbn1 |
round spermatid basic protein 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:191,416,631...191,470,711
Ensembl chr 2:191,416,631...191,470,711
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Sike1 |
suppressor of IKBKE 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:190,518,002...190,525,833
Ensembl chr 2:190,518,002...190,525,832
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Slc16a1 |
solute carrier family 16 member 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:192,123,755...192,144,617
Ensembl chr 2:192,124,289...192,144,611
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St7l |
suppression of tumorigenicity 7-like |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:192,364,594...192,434,414
Ensembl chr 2:192,364,594...192,487,190
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Sycp1 |
synaptonemal complex protein 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:190,296,688...190,456,687
Ensembl chr 2:190,296,954...190,456,737
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Syt6 |
synaptotagmin 6 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:191,093,009...191,152,283
Ensembl chr 2:191,093,007...191,149,956
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Tafa3 |
TAFA chemokine like family member 3 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:192,264,153...192,280,356
Ensembl chr 2:192,267,093...192,274,019
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Trim33 |
tripartite motif-containing 33 |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:190,812,329...190,892,663
Ensembl chr 2:190,807,243...190,888,814
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Tshb |
thyroid stimulating hormone subunit beta |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:190,224,676...190,229,559
Ensembl chr 2:190,224,676...190,229,559
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Wnt2b |
Wnt family member 2B |
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ISO |
ClinVar Annotator: match by term: Hereditary spastic paraplegia 47 |
ClinVar |
PMID:22290197 PMID:24700674 PMID:24781758 PMID:28492532 |
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NCBI chr 2:192,454,226...192,468,599
Ensembl chr 2:192,453,824...192,470,308
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