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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:Glycosylphosphatidylinositol Deficiency
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Accession:DOID:9006834 term browser browse the term
Synonyms:exact_synonym: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT;   GPID;   PORTAL HYPERTENSION WITH SEIZURES AND/OR MACROCEPHALY GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY
 alt_id: MESH:C537277


show annotations for term's descendants           Sort by:
developmental and epileptic encephalopathy 38 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arv1 ARV1 homolog, fatty acid homeostasis modulator ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ARV1-related condition | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 38		 OMIM
CTD
ClinVar		 PMID:25558065 PMID:25741868 PMID:27270415 PMID:28492532 PMID:32165008 NCBI chr19:52,692,337...52,704,156
Ensembl chr19:52,692,337...52,704,156 		JBrowse link
developmental and epileptic encephalopathy 55 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigp phosphatidylinositol glycan anchor biosynthesis, class P ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 55 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 55 OMIM
ClinVar		 PMID:25741868 PMID:28334793 PMID:28492532 PMID:31139695 PMID:32042915 NCBI chr11:33,682,943...33,689,111
Ensembl chr11:33,682,948...33,689,321 		JBrowse link
developmental and epileptic encephalopathy 80 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccpg1 cell cycle progression 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 80 ClinVar PMID:25741868 PMID:28492532 PMID:31256876 NCBI chr 8:73,719,960...73,752,437
Ensembl chr 8:73,719,955...73,752,430 		JBrowse link
G Pigb phosphatidylinositol glycan anchor biosynthesis, class B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 80 | ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 20 OMIM
ClinVar		 PMID:16199547 PMID:17343268 PMID:25326635 PMID:25741868 PMID:28492532 More... NCBI chr 8:73,751,756...73,775,679
Ensembl chr 8:73,751,798...73,775,679 		JBrowse link
developmental and epileptic encephalopathy 95 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigs phosphatidylinositol glycan anchor biosynthesis, class S ISO ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 18 OMIM
ClinVar		 PMID:25741868 PMID:30269814 PMID:33410539 NCBI chr10:63,222,611...63,237,190
Ensembl chr10:63,222,572...63,237,187 		JBrowse link
Glycosylphosphatidylinositol Biosynthesis Defect 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo19 myosin XIX ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 ClinVar PMID:25741868 NCBI chr10:69,753,082...69,782,450
Ensembl chr10:69,753,068...69,782,450 		JBrowse link
G Pigm phosphatidylinositol glycan anchor biosynthesis, class M ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1		 OMIM
CTD
ClinVar		 PMID:16767100 PMID:17442906 PMID:25293775 PMID:25741868 PMID:28492532 More... NCBI chr13:84,838,329...84,842,026
Ensembl chr13:84,838,175...84,843,381 		JBrowse link
G Pigw phosphatidylinositol glycan anchor biosynthesis, class W ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 ClinVar PMID:25741868 NCBI chr10:69,746,996...69,782,656
Ensembl chr10:69,748,789...69,790,475 		JBrowse link
Glycosylphosphatidylinositol Biosynthesis Defect 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpaa1 glycosylphosphatidylinositol anchor attachment 1 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 More... NCBI chr 7:108,051,896...108,055,479
Ensembl chr 7:108,051,861...108,055,484 		JBrowse link
glycosylphosphatidylinositol biosynthesis defect 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C13h1orf105 similar to human chromosome 1 open reading frame 105 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:25741913 PMID:26036949 PMID:27694521 More... NCBI chr13:74,313,320...74,356,322
Ensembl chr13:74,313,322...74,356,322 		JBrowse link
G Pigc phosphatidylinositol glycan anchor biosynthesis, class C 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:25741913 PMID:26036949 PMID:27694521 More... NCBI chr13:74,343,619...74,346,148
Ensembl chr13:74,296,854...74,346,211 		JBrowse link
Glycosylphosphatidylinositol Biosynthesis Defect 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gphn gephyrin 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 NCBI chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612 		JBrowse link
G Pigh phosphatidylinositol glycan anchor biosynthesis, class H 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 NCBI chr 6:97,874,903...97,897,188
Ensembl chr 6:97,882,903...97,897,142 		JBrowse link
Glycosylphosphatidylinositol Biosynthesis Defect 21 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigu phosphatidylinositol glycan anchor biosynthesis, class U ISO ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 21 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:31353022 NCBI chr 3:143,784,831...143,881,268
Ensembl chr 3:143,784,832...143,880,807 		JBrowse link
Glycosylphosphatidylinositol Biosynthesis Defect 25 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C18h18orf32 similar to human chromosome 18 open reading frame 32 ISO ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 25 OMIM
ClinVar		 PMID:28492532 PMID:35107634 NCBI chr18:68,586,278...68,594,851
Ensembl chr18:68,586,211...68,596,787 		JBrowse link
hyperphosphatasia with impaired intellectual development syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigb phosphatidylinositol glycan anchor biosynthesis, class B ISO ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 ClinVar PMID:25326635 PMID:25741868 PMID:31256876 NCBI chr 8:73,751,756...73,775,679
Ensembl chr 8:73,751,798...73,775,679 		JBrowse link
G Pigg phosphatidylinositol glycan anchor biosynthesis, class G ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2 ClinVar PMID:25741868 PMID:26996948 PMID:28492532 NCBI chr14:1,404,911...1,433,199
Ensembl chr14:1,406,798...1,433,187 		JBrowse link
G Pigl phosphatidylinositol glycan anchor biosynthesis, class L ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2 ClinVar NCBI chr10:47,142,160...47,199,892
Ensembl chr10:47,141,780...47,200,145 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 ClinVar PMID:25741868 NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146 		JBrowse link
G Pigv phosphatidylinositol glycan anchor biosynthesis, class V ISO DNA:missense mutations:CDS:multiple (human)
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2 | ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1 | ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 | ClinVar Annotator: match by term: MABRY SYNDROME		 OMIM
ClinVar
RGD		 PMID:1724113 PMID:17351347 PMID:20578257 PMID:20802478 PMID:21739589 More... RGD:243048420 NCBI chr 5:145,889,642...145,901,533
Ensembl chr 5:145,889,646...145,901,533 		JBrowse link
hyperphosphatasia with impaired intellectual development syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgap3 post-GPI attachment to proteins phospholipase 3 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 10 | ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4 OMIM
ClinVar		 PMID:2443911 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22315194 More... NCBI chr10:83,387,113...83,399,357
Ensembl chr10:83,387,113...83,398,628 		JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4 ClinVar NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894 		JBrowse link
hyperphosphatasia with impaired intellectual development syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aatf apoptosis antagonizing transcription factor ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:69,299,029...69,392,207
Ensembl chr10:69,299,037...69,392,201 		JBrowse link
G Acaca acetyl-CoA carboxylase alpha ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457 		JBrowse link
G C10h17orf78 similar to human chromosome 17 open reading frame 78 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:69,034,887...69,054,100
Ensembl chr10:69,037,708...69,054,113 		JBrowse link
G Ddx52 DExD-box helicase 52 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:68,824,594...68,847,400
Ensembl chr10:68,824,645...68,848,266 		JBrowse link
G Dhrs11 dehydrogenase/reductase 11 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:69,698,214...69,708,294
Ensembl chr10:69,698,214...69,708,295 		JBrowse link
G Dusp14 dual specificity phosphatase 14 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:68,936,483...68,966,347
Ensembl chr10:68,935,330...68,965,329 		JBrowse link
G Ggnbp2 gametogenetin binding protein 2 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:69,711,527...69,743,134
Ensembl chr10:69,711,532...69,743,365 		JBrowse link
G Hnf1b HNF1 homeobox B ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888 		JBrowse link
G Lhx1 LIM homeobox 1 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:69,396,829...69,403,617
Ensembl chr10:69,396,829...69,403,617 		JBrowse link
G Mrm1 mitochondrial rRNA methyltransferase 1 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:69,690,406...69,697,326
Ensembl chr10:69,690,421...69,696,709 		JBrowse link
G Myo19 myosin XIX ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:24367057 PMID:25741868 PMID:27626616 PMID:28492532 PMID:30679815 More... NCBI chr10:69,753,082...69,782,450
Ensembl chr10:69,753,068...69,782,450 		JBrowse link
G Pigw phosphatidylinositol glycan anchor biosynthesis, class W ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 OMIM
ClinVar		 PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:69,746,996...69,782,656
Ensembl chr10:69,748,789...69,790,475 		JBrowse link
G Synrg synergin, gamma ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:68,848,828...68,931,252
Ensembl chr10:68,849,642...68,931,250 		JBrowse link
G Tada2a transcriptional adaptor 2A ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:68,966,502...69,014,149
Ensembl chr10:68,966,502...69,014,105 		JBrowse link
Mental Retardation, Autosomal Recessive 42 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgap1 post-GPI attachment to proteins inositol deacylase 1 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 9 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FEATURES, SPASTICITY, AND BRAIN ABNORMALITIES
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17711852 PMID:24482476 More... NCBI chr 9:55,975,574...56,044,325
Ensembl chr 9:55,975,667...56,044,464 		JBrowse link
Mental Retardation, Autosomal Recessive 53 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5me ATP synthase membrane subunit e 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 NCBI chr14:1,319,868...1,320,996
Ensembl chr14:1,319,868...1,321,013 		JBrowse link
G Cplx1 complexin 1 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 NCBI chr14:1,184,677...1,216,392 JBrowse link
G Dgkq diacylglycerol kinase, theta 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 NCBI chr14:1,059,125...1,073,131
Ensembl chr14:1,059,170...1,073,131 		JBrowse link
G Fgfrl1 fibroblast growth factor receptor-like 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY ClinVar PMID:28492532 PMID:34113002 NCBI chr14:1,009,863...1,022,620
Ensembl chr14:1,009,786...1,021,928 		JBrowse link
G Gak cyclin G associated kinase 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 NCBI chr14:1,089,853...1,164,098
Ensembl chr14:1,089,866...1,216,398 		JBrowse link
G Gtpbp3 GTP binding protein 3 ISO ClinVar Annotator: match by term: PIGG-related neurodevelopmental disorder ClinVar PMID:25741868 PMID:28492532 NCBI chr16:18,175,766...18,180,857
Ensembl chr16:18,175,766...18,180,857 		JBrowse link
G Idua alpha-L-iduronidase 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 NCBI chr14:1,031,588...1,059,494
Ensembl chr14:1,032,171...1,046,522 		JBrowse link
G Pcgf3 polycomb group ring finger 3 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 NCBI chr14:1,237,594...1,291,717
Ensembl chr14:1,233,947...1,291,793 		JBrowse link
G Pde6b phosphodiesterase 6B 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 NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450 		JBrowse link
G Pigg phosphatidylinositol glycan anchor biosynthesis, class G ISO CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar		 PMID:3603660 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 More... NCBI chr14:1,404,911...1,433,199
Ensembl chr14:1,406,798...1,433,187 		JBrowse link
G Slc26a1 solute carrier family 26 member 1 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 NCBI chr14:1,040,565...1,045,851
Ensembl chr14:1,040,243...1,045,849 		JBrowse link
G Slc49a3 solute carrier family 49 member 3 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 NCBI chr14:1,305,091...1,319,723
Ensembl chr14:1,305,680...1,314,132 		JBrowse link
G Sptbn1 spectrin, beta, non-erythrocytic 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY ClinVar PMID:25741868 NCBI chr14:103,841,713...104,016,900
Ensembl chr14:103,842,684...104,008,507 		JBrowse link
G Tmem175 transmembrane protein 175 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 NCBI chr14:1,073,410...1,089,764
Ensembl chr14:1,073,523...1,089,819 		JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:9934988 PMID:16199547 PMID:17576681 PMID:23636107 More... NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887 		JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigq phosphatidylinositol glycan anchor biosynthesis, class Q ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 77 | ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 OMIM
ClinVar		 PMID:16199547 PMID:24463883 PMID:25558065 PMID:25741868 PMID:28492532 More... NCBI chr10:14,942,571...14,958,584
Ensembl chr10:14,942,577...14,958,584 		JBrowse link
Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigk phosphatidylinositol glycan anchor biosynthesis, class K 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 NCBI chr 2:241,630,021...241,715,493
Ensembl chr 2:241,630,053...241,716,134 		JBrowse link
ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigf phosphatidylinositol glycan anchor biosynthesis, class F ISO ClinVar Annotator: match by term: Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome ClinVar
OMIM		 PMID:33386993 NCBI chr 6:7,589,584...7,617,719
Ensembl chr 6:7,589,570...7,639,675 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8237
      disease of metabolism 8237
        lipid metabolism disorder 1735
          Glycosylphosphatidylinositol Deficiency 51
            Glycosylphosphatidylinositol Biosynthesis Defect 1 3
            Glycosylphosphatidylinositol Biosynthesis Defect 15 1
            Glycosylphosphatidylinositol Biosynthesis Defect 17 2
            Glycosylphosphatidylinositol Biosynthesis Defect 21 1
            Glycosylphosphatidylinositol Biosynthesis Defect 25 1
            Mental Retardation, Autosomal Recessive 42 1
            Mental Retardation, Autosomal Recessive 53 14
            Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures 1
            ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME 1
            developmental and epileptic encephalopathy 38 1
            developmental and epileptic encephalopathy 55 1
            developmental and epileptic encephalopathy 80 2
            developmental and epileptic encephalopathy 95 1
            glycosylphosphatidylinositol biosynthesis defect 16 2
            hyperphosphatasia with impaired intellectual development syndrome 1 5
            hyperphosphatasia with impaired intellectual development syndrome 4 2
            hyperphosphatasia with impaired intellectual development syndrome 5 14
            multiple congenital anomalies-hypotonia-seizures syndrome 3 1
            multiple congenital anomalies-hypotonia-seizures syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            epilepsy 2802
              Glycosylphosphatidylinositol Deficiency 51
                Glycosylphosphatidylinositol Biosynthesis Defect 1 3
                Glycosylphosphatidylinositol Biosynthesis Defect 15 1
                Glycosylphosphatidylinositol Biosynthesis Defect 17 2
                Glycosylphosphatidylinositol Biosynthesis Defect 21 1
                Glycosylphosphatidylinositol Biosynthesis Defect 25 1
                Mental Retardation, Autosomal Recessive 42 1
                Mental Retardation, Autosomal Recessive 53 14
                Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures 1
                ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME 1
                developmental and epileptic encephalopathy 38 1
                developmental and epileptic encephalopathy 55 1
                developmental and epileptic encephalopathy 80 2
                developmental and epileptic encephalopathy 95 1
                glycosylphosphatidylinositol biosynthesis defect 16 2
                hyperphosphatasia with impaired intellectual development syndrome 1 5
                hyperphosphatasia with impaired intellectual development syndrome 4 2
                hyperphosphatasia with impaired intellectual development syndrome 5 14
                multiple congenital anomalies-hypotonia-seizures syndrome 3 1
                multiple congenital anomalies-hypotonia-seizures syndrome 4 1
paths to the root