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G |
Pigm |
phosphatidylinositol glycan anchor biosynthesis, class M |
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ISO |
ClinVar Annotator: match by term: Glycosylphosphatidylinositol deficiency |
OMIM ClinVar |
PMID:16767100 PMID:17442906 PMID:25293775 PMID:28492532 PMID:31445883 |
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NCBI chr13:90,759,260...90,762,957
Ensembl chr13:90,759,260...90,762,957
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G |
Pigw |
phosphatidylinositol glycan anchor biosynthesis, class W |
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ISO |
ClinVar Annotator: match by term: Glycosylphosphatidylinositol deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr10:72,194,774...72,198,415
Ensembl chr10:72,194,929...72,196,437
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G |
Arv1 |
ARV1 homolog, fatty acid homeostasis modulator |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38 ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 38 |
ClinVar OMIM |
PMID:25558065 PMID:25741868 PMID:27270415 PMID:32165008 |
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NCBI chr19:57,484,720...57,496,539
Ensembl chr19:57,484,634...57,496,695
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G |
Pigp |
phosphatidylinositol glycan anchor biosynthesis, class P |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55 ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 55 |
ClinVar OMIM |
PMID:28334793 PMID:31139695 PMID:32042915 |
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NCBI chr11:34,592,128...34,598,253
Ensembl chr11:34,592,121...34,598,275
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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: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 77 |
OMIM ClinVar |
PMID:16199547 PMID:24463883 PMID:25558065 PMID:25741868 PMID:27513193 PMID:28492532 PMID:31148362 PMID:32588908 |
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NCBI chr10:15,289,530...15,305,593
Ensembl chr10:15,289,536...15,305,549
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G |
Ccpg1 |
cell cycle progression 1 |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80 |
ClinVar |
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NCBI chr 8:79,660,634...79,692,044
Ensembl chr 8:79,660,657...79,692,039
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G |
Pigb |
phosphatidylinositol glycan anchor biosynthesis, class B |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80 |
OMIM ClinVar |
PMID:17343268 PMID:25326635 PMID:25741868 PMID:31256876 |
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NCBI chr 8:79,691,407...79,715,284
Ensembl chr 8:79,691,407...79,715,284
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G |
Pigbos1 |
PIGB opposite strand 1 |
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ISO |
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80 |
ClinVar |
PMID:17343268 PMID:31256876 |
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NCBI chr 8:79,715,337...79,719,706
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G |
Gpaa1 |
glycosylphosphatidylinositol anchor attachment 1 |
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ISO |
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 |
ClinVar OMIM |
PMID:25741868 PMID:29100095 |
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NCBI chr 7:117,394,367...117,397,950
Ensembl chr 7:117,394,372...117,397,956
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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 OMIM |
PMID:25741868 PMID:25741900 PMID:27694521 |
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NCBI chr13:79,886,832...79,889,305
Ensembl chr13:79,886,832...79,889,304
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G |
RGD1309106 |
similar to hypothetical protein |
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ISO |
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16 |
ClinVar |
PMID:25741868 PMID:25741900 PMID:27694521 |
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NCBI chr13:79,856,479...79,901,830
Ensembl chr13:79,856,479...79,899,479
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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 OMIM |
PMID:29573052 PMID:29603516 |
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NCBI chr 6:102,258,621...102,272,826
Ensembl chr 6:102,263,337...102,272,777
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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 OMIM |
PMID:25741868 PMID:30269814 |
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NCBI chr10:65,591,638...65,606,175
Ensembl chr10:65,591,622...65,606,202
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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 |
OMIM ClinVar |
PMID:31353022 |
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NCBI chr 3:150,803,096...150,885,597
Ensembl chr 3:150,803,097...150,885,616
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G |
Aatf |
apoptosis antagonizing transcription factor |
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ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,744,648...71,837,851
Ensembl chr10:71,744,659...71,837,851
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G |
Acaca |
acetyl-CoA carboxylase alpha |
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ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,519,392...71,719,910
Ensembl chr10:71,536,533...71,719,910
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G |
Dhrs11 |
dehydrogenase/reductase 11 |
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ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,144,042...72,153,496
Ensembl chr10:72,144,042...72,153,375
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G |
Ggnbp2 |
gametogenetin binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,156,729...72,188,834
Ensembl chr10:72,156,728...72,188,308
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G |
Lhx1 |
LIM homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,843,991...71,849,293
Ensembl chr10:71,843,991...71,849,293
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G |
Mrm1 |
mitochondrial rRNA methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,136,241...72,143,075
Ensembl chr10:72,136,246...72,142,533
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G |
Myo19 |
myosin XIX |
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ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,198,475...72,227,892
Ensembl chr10:72,197,977...72,227,462
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G |
Pigw |
phosphatidylinositol glycan anchor biosynthesis, class W |
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ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 |
ClinVar OMIM |
PMID:24367057 PMID:25741868 PMID:27626616 PMID:28492532 PMID:32466763 |
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NCBI chr10:72,194,774...72,198,415
Ensembl chr10:72,194,929...72,196,437
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G |
Pigg |
phosphatidylinositol glycan anchor biosynthesis, class G |
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ISO |
ClinVar Annotator: match by term: Mental retardation, autosomal recessive 53 |
ClinVar OMIM |
PMID:25741868 PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 |
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NCBI chr14:2,410,339...2,438,630
Ensembl chr14:2,410,342...2,438,592
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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 |
ClinVar OMIM |
PMID:32220290 |
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NCBI chr 2:257,911,099...257,997,735
Ensembl chr 2:257,911,126...257,997,733
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