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.
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Armc6
armadillo repeat containing 6
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:19,191,106...19,201,528
Ensembl chr16:19,191,093...19,206,047
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Arrdc2
arrestin domain containing 2
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,601,897...18,606,029
Ensembl chr16:18,601,897...18,606,029
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Borcs8
BLOC-1 related complex subunit 8
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:19,274,305...19,280,969
Ensembl chr16:19,274,023...19,280,339
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Ccdc124
coiled-coil domain containing 124
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,566,745...18,572,564
Ensembl chr16:18,566,745...18,572,564
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Ccnd2
cyclin D2
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:25741868
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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Cers1
ceramide synthase 1
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,104,466...19,112,519
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Comp
cartilage oligomeric matrix protein
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:19,047,206...19,055,584
Ensembl chr16:19,047,207...19,055,845
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Cope
COPI coat complex subunit epsilon
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:19,114,871...19,125,076
Ensembl chr16:19,114,871...19,128,907
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Crlf1
cytokine receptor-like factor 1
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,924,722...18,936,049
Ensembl chr16:18,924,722...18,935,997
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Crtc1
CREB regulated transcription coactivator 1
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,988,197...19,046,914
Ensembl chr16:18,988,250...19,043,381
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Ddx49
DEAD-box helicase 49
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:19,125,388...19,133,042
Ensembl chr16:19,125,384...19,133,616
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Ell
elongation factor for RNA polymerase II
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,843,775...18,891,484
Ensembl chr16:18,843,780...18,891,118
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Fkbp8
FKBP prolyl isomerase 8
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,895,608...18,902,648
Ensembl chr16:18,893,576...18,902,612
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Gdf1
growth differentiation factor 1
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,097,314...19,112,519
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Gdf15
growth differentiation factor 15
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,804,457...18,808,043
Ensembl chr16:18,805,239...18,808,055
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Homer3
homer scaffold protein 3
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:19,132,177...19,142,739
Ensembl chr16:19,132,162...19,142,680
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Ifi30
IFI30, lysosomal thiol reductase
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,675,590...18,679,655
Ensembl chr16:18,675,613...18,681,175
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Il12rb1
interleukin 12 receptor subunit beta 1
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,620,228...18,633,207
Ensembl chr16:18,620,770...18,632,769
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Insl3
insulin-like 3
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,398,682...18,400,566
Ensembl chr16:18,384,829...18,400,560
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Iqcn
IQ motif containing N
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,716,519...18,733,971
Ensembl chr16:18,716,519...18,726,261
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Isyna1
inositol-3-phosphate synthase 1
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,839,143...18,841,979
Ensembl chr16:18,839,145...18,841,979
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Jak3
Janus kinase 3
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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Jund
JunD proto-oncogene, AP-1 transcription factor subunit
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,734,121...18,735,799
Ensembl chr16:18,734,122...18,735,799
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Kcnn1
potassium calcium-activated channel subfamily N member 1
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,574,858...18,598,585
Ensembl chr16:18,585,992...18,597,482
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Klhl26
kelch-like family member 26
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,952,123...18,977,328
Ensembl chr16:18,952,234...18,977,328
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Kxd1
KxDL motif containing 1
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,895,343...18,916,266
Ensembl chr16:18,900,616...18,920,807
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Lrrc25
leucine rich repeat containing 25
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,806,888...18,813,723
Ensembl chr16:18,806,890...18,813,671
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Lsm4
LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,755,481...18,761,106
Ensembl chr16:18,755,484...18,760,926
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Mast3
microtubule associated serine/threonine kinase 3
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,636,764...18,663,852
Ensembl chr16:18,636,787...18,663,852
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Mef2b
myocyte enhancer factor 2B
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:19,253,008...19,269,514
Ensembl chr16:19,253,010...19,268,967
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Mpv17l2
MPV17 mitochondrial inner membrane protein like 2
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,680,106...18,684,212
Ensembl chr16:18,681,826...18,684,212
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Nr2c2ap
nuclear receptor 2C2-associated protein
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:19,288,454...19,290,940
Ensembl chr16:19,288,454...19,290,719
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Pde4c
phosphodiesterase 4C
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,690,727...18,711,555
Ensembl chr16:18,691,700...18,710,640
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Pgpep1
pyroglutamyl-peptidase I
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,770,563...18,782,968
Ensembl chr16:18,771,021...18,783,478
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Pik3r2
phosphoinositide-3-kinase regulatory subunit 2
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
OMIM ClinVar
PMID:9536098 PMID:16357568 PMID:17576681 PMID:17675034 PMID:21984976 PMID:22729224 PMID:23745724 PMID:24497998 PMID:25741868 PMID:26520804 PMID:26860062 PMID:27854409 PMID:28086757 PMID:28492532 PMID:28502725 PMID:33818783 PMID:34170046 More...
NCBI chr16:18,665,517...18,674,067
Ensembl chr16:18,665,457...18,674,065
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Rab3a
RAB3A, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,684,185...18,688,297
Ensembl chr16:18,684,188...18,688,336
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Rex1bd
required for excision 1-B domain containing
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,922,050...18,924,521
Ensembl chr16:18,922,037...18,924,526
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Rfxank
regulatory factor X-associated ankyrin-containing protein
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:19,280,857...19,288,886
Ensembl chr16:19,281,475...19,460,255
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Rpl18a
ribosomal protein L18A
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,542,555...18,544,578
Ensembl chr16:18,542,566...18,545,546
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Slc25a42
solute carrier family 25, member 42
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:19,213,914...19,251,990
Ensembl chr16:19,213,950...19,237,025
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Slc5a5
solute carrier family 5 member 5
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,546,709...18,556,698
Ensembl chr16:18,546,709...18,556,697
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Ssbp4
single stranded DNA binding protein 4
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,828,014...18,838,941
Ensembl chr16:18,828,054...18,838,947
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Sugp2
SURP and G patch domain containing 2
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:19,159,951...19,191,412
Ensembl chr16:19,164,767...19,191,340
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Tmem161a
transmembrane protein 161A
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:19,237,638...19,248,151
Ensembl chr16:19,238,487...19,248,087
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Tmem59l
transmembrane protein 59-like
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,941,370...18,945,381
Ensembl chr16:18,941,567...18,945,381
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Uba52
ubiquitin A-52 residue ribosomal protein fusion product 1
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:18,918,614...18,920,807
Ensembl chr16:18,900,616...18,920,807
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Upf1
UPF1, RNA helicase and ATPase
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:28492532
NCBI chr16:19,076,594...19,097,365
Ensembl chr16:19,076,322...19,096,568
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Zeb2
zinc finger E-box binding homeobox 2
ISO
ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
ClinVar
PMID:25741868
NCBI chr 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157
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