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G |
Arv1 |
ARV1 homolog, fatty acid homeostasis modulator |
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ISO |
ClinVar Annotator: match by term: ARV1-related condition | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 38 |
OMIM ClinVar |
PMID:25558065 PMID:25741868 PMID:27270415 PMID:28492532 PMID:32165008 |
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NCBI chr19:52,692,337...52,704,156
Ensembl chr19:52,692,337...52,704,156
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G |
Pigp |
phosphatidylinositol glycan anchor biosynthesis, class P |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 55 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 55 | ClinVar Annotator: match by term: PIGP-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28334793 PMID:28492532 PMID:31139695 PMID:32042915 |
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NCBI chr11:47,152,601...47,158,766
Ensembl chr11:33,682,948...33,689,321
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G |
Ccpg1 |
cell cycle progression 1 |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 80 | ClinVar Annotator: match by term: PIGB-related condition |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31256876 |
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NCBI chr 8:82,600,677...82,633,082
Ensembl chr 8:73,719,955...73,752,430
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G |
Pigb |
phosphatidylinositol glycan anchor biosynthesis, class B |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 80 | ClinVar Annotator: match by term: PIGB-related condition |
OMIM ClinVar |
PMID:16199547 PMID:17343268 PMID:25326635 PMID:25741868 PMID:28492532 PMID:31256876 PMID:32123317 PMID:34400385 More...
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NCBI chr 8:82,622,484...82,656,323
Ensembl chr 8:73,751,798...73,775,679
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G |
Pigs |
phosphatidylinositol glycan anchor biosynthesis, class S |
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ISO |
ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 18 | ClinVar Annotator: match by term: PIGS-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30269814 PMID:33410539 |
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NCBI chr10:63,720,568...63,735,255
Ensembl chr10:63,222,572...63,237,187
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G |
Myo19 |
myosin XIX |
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ISO |
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 |
ClinVar |
PMID:25741868 |
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NCBI chr10:69,753,082...69,782,450
Ensembl chr10:69,753,068...69,782,450
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G |
Pigm |
phosphatidylinositol glycan anchor biosynthesis, class M |
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ISO |
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 |
OMIM ClinVar |
PMID:16767100 PMID:17442906 PMID:25293775 PMID:25741868 PMID:28492532 PMID:31445883 More...
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NCBI chr13:84,838,329...84,842,026
Ensembl chr13:84,838,175...84,843,381
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G |
Pigw |
phosphatidylinositol glycan anchor biosynthesis, class W |
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ISO |
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 |
ClinVar |
PMID:25741868 |
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NCBI chr10:70,246,904...70,248,412
Ensembl chr10:69,748,789...69,790,475
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G |
Gpaa1 |
glycosylphosphatidylinositol anchor attachment 1 |
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ISO |
ClinVar Annotator: match by term: GPAA1-related condition | ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 15 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29100095 PMID:32637629 PMID:34703884 More...
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NCBI chr 7:109,932,556...109,936,139
Ensembl chr 7:108,051,861...108,055,484
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G |
C13h1orf105 |
similar to human chromosome 1 open reading frame 105 |
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ISO |
ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 16 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 62 |
ClinVar |
PMID:25741868 PMID:25741900 PMID:26036949 PMID:27694521 PMID:28492532 |
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NCBI chr13:74,313,320...74,356,322
Ensembl chr13:74,313,322...74,356,322
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G |
Pigc |
phosphatidylinositol glycan anchor biosynthesis, class C |
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ISO |
ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 16 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 62 |
OMIM ClinVar |
PMID:25741868 PMID:25741900 PMID:26036949 PMID:27694521 PMID:28492532 |
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NCBI chr13:76,876,894...76,879,420
Ensembl chr13:74,296,854...74,346,211
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G |
Gphn |
gephyrin |
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ISO |
ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 17 | ClinVar Annotator: match by term: PIGH-related condition |
ClinVar |
PMID:25741868 PMID:29573052 PMID:29603516 PMID:33156547 PMID:35445667 |
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NCBI chr 6:102,687,405...103,216,679
Ensembl chr 6:96,892,148...97,483,612
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G |
Pigh |
phosphatidylinositol glycan anchor biosynthesis, class H |
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ISO |
ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 17 | ClinVar Annotator: match by term: PIGH-related condition |
OMIM ClinVar |
PMID:25741868 PMID:29573052 PMID:29603516 PMID:33156547 PMID:35445667 |
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NCBI chr 6:97,874,903...97,897,188
Ensembl chr 6:97,882,903...97,897,142
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G |
Pigu |
phosphatidylinositol glycan anchor biosynthesis, class U |
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ISO |
ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 21 | ClinVar Annotator: match by term: PIGU-related condition |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:31353022 |
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NCBI chr 3:164,245,011...164,341,444
Ensembl chr 3:143,784,832...143,880,807
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G |
C18h18orf32 |
similar to human chromosome 18 open reading frame 32 |
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ISO |
ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 25 |
OMIM ClinVar |
PMID:28492532 PMID:35107634 |
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NCBI chr18:70,861,434...70,869,983
Ensembl chr18:68,586,211...68,596,787
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G |
Pigb |
phosphatidylinositol glycan anchor biosynthesis, class B |
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ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 |
ClinVar |
PMID:25326635 PMID:25741868 PMID:31256876 |
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NCBI chr 8:82,622,484...82,656,323
Ensembl chr 8:73,751,798...73,775,679
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G |
Pigg |
phosphatidylinositol glycan anchor biosynthesis, class G |
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ISO |
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2 |
ClinVar |
PMID:25741868 PMID:26996948 PMID:28492532 |
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NCBI chr14:1,549,891...1,578,174
Ensembl chr14:1,406,798...1,433,187
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G |
Pigl |
phosphatidylinositol glycan anchor biosynthesis, class L |
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ISO |
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2 |
ClinVar |
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NCBI chr10:47,641,478...47,699,200
Ensembl chr10:47,141,780...47,200,145
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G |
Pigo |
phosphatidylinositol glycan anchor biosynthesis, class O |
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ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 5:62,040,979...62,052,067
Ensembl chr 5:57,245,166...57,254,146
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G |
Pigv |
phosphatidylinositol glycan anchor biosynthesis, class V |
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ISO |
DNA:missense mutations:CDS:multiple (human) ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2 | ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 | ClinVar Annotator: match by term: PIGV-related condition |
OMIM ClinVar RGD |
PMID:1724113 PMID:17351347 PMID:20578257 PMID:20802478 PMID:21739589 PMID:22228761 PMID:22315194 PMID:24033266 PMID:24129430 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28688840 PMID:20802478 More...
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RGD:243048420 |
NCBI chr 5:151,173,486...151,185,748
Ensembl chr 5:145,889,646...145,901,533
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G |
Pgap3 |
post-GPI attachment to proteins phospholipase 3 |
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ISO |
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 10 | ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4 | ClinVar Annotator: match by term: Hyperphosphatasia with impaired intellectual development syndrome 4 | ClinVar Annotator: match by term: PGAP3-related condition |
OMIM ClinVar |
PMID:2443911 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22315194 PMID:24439110 PMID:25741868 PMID:27120253 PMID:28327575 PMID:28390064 PMID:28492532 PMID:29310717 PMID:29531774 PMID:29620724 PMID:30217754 PMID:30345601 PMID:32726939 PMID:32845056 PMID:32860008 PMID:34582790 PMID:35887114 More...
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NCBI chr10:83,883,406...83,895,408
Ensembl chr10:83,387,113...83,398,628
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G |
Setd5 |
SET domain containing 5 |
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ISO |
ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4 |
ClinVar |
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NCBI chr 4:147,772,955...147,850,669
Ensembl chr 4:146,217,180...146,294,894
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G |
Aatf |
apoptosis antagonizing transcription factor |
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ISO |
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 |
ClinVar |
PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 PMID:21540130 PMID:22912587 PMID:24905847 PMID:26123568 PMID:28492532 PMID:31604004 More...
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NCBI chr10:69,299,029...69,392,207
Ensembl chr10:69,299,037...69,392,201
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G |
Acaca |
acetyl-CoA carboxylase alpha |
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ISO |
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 |
ClinVar |
PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 PMID:21540130 PMID:22912587 PMID:24905847 PMID:26123568 PMID:28492532 PMID:31604004 More...
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NCBI chr10:69,511,627...69,773,888
Ensembl chr10:69,014,170...69,276,457
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G |
C10h17orf78 |
similar to human chromosome 17 open reading frame 78 |
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ISO |
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 |
ClinVar |
PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 PMID:21540130 PMID:22912587 PMID:24905847 PMID:26123568 PMID:28492532 PMID:31604004 More...
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NCBI chr10:69,034,887...69,054,100
Ensembl chr10:69,037,708...69,054,113
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G |
Ddx52 |
DExD-box helicase 52 |
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ISO |
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 |
ClinVar |
PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 PMID:21540130 PMID:22912587 PMID:24905847 PMID:26123568 PMID:28492532 PMID:31604004 More...
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NCBI chr10:69,322,062...69,344,856
Ensembl chr10:68,824,645...68,848,266
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G |
Dhrs11 |
dehydrogenase/reductase 11 |
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ISO |
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 |
ClinVar |
PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 PMID:21540130 PMID:22912587 PMID:24905847 PMID:26123568 PMID:28492532 PMID:31604004 More...
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NCBI chr10:69,698,214...69,708,294
Ensembl chr10:69,698,214...69,708,295
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G |
Dusp14 |
dual specificity phosphatase 14 |
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ISO |
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 |
ClinVar |
PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 PMID:21540130 PMID:22912587 PMID:24905847 PMID:26123568 PMID:28492532 PMID:31604004 More...
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NCBI chr10:69,433,949...69,463,863
Ensembl chr10:68,935,330...68,965,329
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G |
Ggnbp2 |
gametogenetin binding protein 2 |
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ISO |
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 |
ClinVar |
PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 PMID:21540130 PMID:22912587 PMID:24905847 PMID:26123568 PMID:28492532 PMID:31604004 More...
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NCBI chr10:69,711,527...69,743,134
Ensembl chr10:69,711,532...69,743,365
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G |
Hnf1b |
HNF1 homeobox B |
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ISO |
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 |
ClinVar |
PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 PMID:21540130 PMID:22912587 PMID:24905847 PMID:26123568 PMID:28492532 PMID:31604004 More...
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NCBI chr10:69,233,377...69,287,360
Ensembl chr10:68,735,894...68,789,888
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G |
Lhx1 |
LIM homeobox 1 |
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ISO |
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 |
ClinVar |
PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 PMID:21540130 PMID:22912587 PMID:24905847 PMID:26123568 PMID:28492532 PMID:31604004 More...
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NCBI chr10:69,396,829...69,403,617
Ensembl chr10:69,396,829...69,403,617
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G |
Mrm1 |
mitochondrial rRNA methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 |
ClinVar |
PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 PMID:21540130 PMID:22912587 PMID:24905847 PMID:26123568 PMID:28492532 PMID:31604004 More...
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NCBI chr10:70,187,842...70,194,785
Ensembl chr10:69,690,421...69,696,709
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G |
Myo19 |
myosin XIX |
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ISO |
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 |
ClinVar |
PMID:24367057 PMID:25741868 PMID:27626616 PMID:28492532 PMID:30679815 PMID:30813920 PMID:32198969 PMID:32466763 More...
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NCBI chr10:69,753,082...69,782,450
Ensembl chr10:69,753,068...69,782,450
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G |
Pigw |
phosphatidylinositol glycan anchor biosynthesis, class W |
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ISO |
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 |
OMIM ClinVar |
PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 PMID:21540130 PMID:22912587 PMID:24367057 PMID:24905847 PMID:25741868 PMID:26123568 PMID:27626616 PMID:28492532 PMID:30679815 PMID:30813920 PMID:31604004 PMID:32198969 PMID:32466763 More...
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NCBI chr10:70,246,904...70,248,412
Ensembl chr10:69,748,789...69,790,475
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G |
Synrg |
synergin, gamma |
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ISO |
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 |
ClinVar |
PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 PMID:21540130 PMID:22912587 PMID:24905847 PMID:26123568 PMID:28492532 PMID:31604004 More...
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NCBI chr10:69,346,154...69,428,714
Ensembl chr10:68,849,642...68,931,250
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G |
Tada2a |
transcriptional adaptor 2A |
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ISO |
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 |
ClinVar |
PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 PMID:21540130 PMID:22912587 PMID:24905847 PMID:26123568 PMID:28492532 PMID:31604004 More...
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NCBI chr10:69,463,966...69,511,612
Ensembl chr10:68,966,502...69,014,105
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G |
Gpi |
glucose-6-phosphate isomerase |
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ISO |
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FEATURES, SPASTICITY, AND BRAIN ABNORMALITIES |
ClinVar |
PMID:25741868 |
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NCBI chr 1:95,965,389...95,996,932
Ensembl chr 1:86,828,216...86,856,086
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G |
Pgap1 |
post-GPI attachment to proteins inositol deacylase 1 |
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ISO |
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 9 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FEATURES, SPASTICITY, AND BRAIN ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:17711852 PMID:24482476 PMID:25741868 PMID:25804403 PMID:25823418 PMID:26050939 PMID:26350515 PMID:27848944 PMID:28492532 PMID:34906502 More...
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NCBI chr 9:63,470,023...63,538,772
Ensembl chr 9:55,975,667...56,044,464
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G |
Atp5me |
ATP synthase membrane subunit e |
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ISO |
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY |
ClinVar |
PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 PMID:34113002 |
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NCBI chr14:1,319,868...1,320,996
Ensembl chr14:1,319,868...1,321,013
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G |
Cplx1 |
complexin 1 |
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ISO |
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY |
ClinVar |
PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 PMID:34113002 |
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NCBI chr14:1,329,073...1,360,781
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G |
Dgkq |
diacylglycerol kinase, theta |
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ISO |
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY |
ClinVar |
PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 PMID:34113002 |
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NCBI chr14:1,203,380...1,217,536
Ensembl chr14:1,059,170...1,073,131
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G |
Fgfrl1 |
fibroblast growth factor receptor-like 1 |
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ISO |
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY |
ClinVar |
PMID:28492532 PMID:34113002 |
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NCBI chr14:1,154,275...1,166,334
Ensembl chr14:1,009,786...1,021,928
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G |
Gak |
cyclin G associated kinase |
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ISO |
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY |
ClinVar |
PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 PMID:34113002 |
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NCBI chr14:1,234,272...1,308,492
Ensembl chr14:1,089,866...1,216,398
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G |
Gtpbp3 |
GTP binding protein 3 |
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ISO |
ClinVar Annotator: match by term: PIGG-related neurodevelopmental disorder |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:18,175,766...18,180,857
Ensembl chr16:18,175,766...18,180,857
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G |
Idua |
alpha-L-iduronidase |
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ISO |
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY |
ClinVar |
PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 PMID:34113002 |
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NCBI chr14:1,031,588...1,059,494
Ensembl chr14:1,032,171...1,046,522
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G |
Pcgf3 |
polycomb group ring finger 3 |
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ISO |
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY |
ClinVar |
PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 PMID:34113002 |
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NCBI chr14:1,237,594...1,291,717
Ensembl chr14:1,233,947...1,291,793
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G |
Pde6b |
phosphodiesterase 6B |
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ISO |
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY |
ClinVar |
PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 PMID:34113002 |
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NCBI chr14:1,468,302...1,511,435
Ensembl chr14:1,323,310...1,366,450
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G |
Pigg |
phosphatidylinositol glycan anchor biosynthesis, class G |
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ISO |
ClinVar Annotator: match by term: Emm-null phenotype | ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 13 | ClinVar Annotator: match by term: Mental retardation, autosomal recessive 53 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY |
OMIM ClinVar |
PMID:3603660 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 PMID:31980526 PMID:33763700 PMID:33921431 PMID:34113002 PMID:34535746 PMID:34908758 PMID:38456468 PMID:39444079 More...
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NCBI chr14:1,549,891...1,578,174
Ensembl chr14:1,406,798...1,433,187
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G |
Slc26a1 |
solute carrier family 26 member 1 |
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ISO |
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY |
ClinVar |
PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 PMID:34113002 |
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NCBI chr14:1,040,565...1,045,851
Ensembl chr14:1,040,243...1,045,849
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G |
Slc49a3 |
solute carrier family 49 member 3 |
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ISO |
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY |
ClinVar |
PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 PMID:34113002 |
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NCBI chr14:1,305,091...1,319,723
Ensembl chr14:1,305,680...1,314,132
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G |
Sptbn1 |
spectrin, beta, non-erythrocytic 1 |
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ISO |
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY |
ClinVar |
PMID:25741868 |
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NCBI chr14:108,042,629...108,217,884
Ensembl chr14:103,842,684...104,008,507
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G |
Tmem175 |
transmembrane protein 175 |
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ISO |
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY |
ClinVar |
PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 PMID:34113002 |
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NCBI chr14:1,073,410...1,089,764
Ensembl chr14:1,073,523...1,089,819
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G |
Pigt |
phosphatidylinositol glycan anchor biosynthesis, class T |
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ISO |
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3 | ClinVar Annotator: match by term: PIGT-related disorder |
OMIM ClinVar |
PMID:9536098 PMID:9934988 PMID:16199547 PMID:17576681 PMID:23636107 PMID:24906948 PMID:25741868 PMID:25943031 PMID:27916860 PMID:28327575 PMID:28492532 PMID:28728837 PMID:29868109 PMID:30049826 PMID:30813157 PMID:30976099 PMID:31130284 PMID:32220244 PMID:32404165 PMID:32581362 PMID:32725661 PMID:34046058 PMID:36177944 More...
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NCBI chr 3:173,647,104...173,656,269
Ensembl chr 3:153,227,420...153,236,887
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G |
Pigq |
phosphatidylinositol glycan anchor biosynthesis, class Q |
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ISO |
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 77 | ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 | ClinVar Annotator: match by term: PIGQ-related condition |
OMIM ClinVar |
PMID:16199547 PMID:24463883 PMID:25558065 PMID:25741868 PMID:28492532 PMID:31148362 PMID:32588908 PMID:32746448 More...
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NCBI chr10:15,447,080...15,463,088
Ensembl chr10:14,942,577...14,958,584
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G |
Pigk |
phosphatidylinositol glycan anchor biosynthesis, class K |
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ISO |
ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures |
OMIM ClinVar |
PMID:25741868 PMID:32220290 PMID:33392778 |
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NCBI chr 2:244,289,928...244,375,394
Ensembl chr 2:241,630,053...241,716,134
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G |
Pigf |
phosphatidylinositol glycan anchor biosynthesis, class F |
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ISO |
ClinVar Annotator: match by term: Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome |
ClinVar OMIM |
PMID:33386993 |
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NCBI chr 6:13,343,134...13,371,237
Ensembl chr 6:7,589,570...7,639,675
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