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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:periventricular nodular heterotopia
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Accession:DOID:0050454 term browser browse the term
Definition:A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain. (DO)
Synonyms:exact_synonym: BPNH;   Familial Nodular Heterotopia;   Heterotopia, Periventricular, X-Linked Dominant;   NHBP;   PVNH1;   Periventricular Heterotopia;   Periventricular Heterotopias;   Periventricular Nodular Heterotopia 1;   Periventricular Nodular Heterotopias;   X-linked periventricular heterotopia;   X-linked periventricular heterotopias;   bilateral periventricular nodular heterotopia;   familial nodular heterotopias
 narrow_synonym: HETEROTOPIA, PERIVENTRICULAR NODULAR, WITH FRONTOMETAPHYSEAL DYSPLASIA;   HETEROTOPIA, PERIVENTRICULAR, WITH FRONTOMETAPHYSEAL DYSPLASIA
 primary_id: MESH:D054091
 alt_id: OMIM:300049
 xref: NCI:C202072;   OMIM:PS300049;   ORDO:98892


show annotations for term's descendants           Sort by:
periventricular nodular heterotopia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,275,165...143,295,283
Ensembl chr  X:153,162,412...153,182,424 		JBrowse link
G ARHGAP4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,462,157...143,481,496
Ensembl chr  X:153,349,050...153,367,709 		JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,068,171...143,133,479
Ensembl chr  X:152,955,109...153,019,445 		JBrowse link
G ATP6AP1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,870,421...143,878,288
Ensembl chr  X:153,740,751...153,748,621 		JBrowse link
G AVPR2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,458,693...143,461,945
Ensembl chr  X:153,346,466...153,348,840 		JBrowse link
G BAG6 BAG cochaperone 6 ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia ClinVar PMID:31474318 NCBI chr 6:31,300,126...31,313,829
Ensembl chr 6:32,190,037...32,204,321 		JBrowse link
G BCAP31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,265,920...143,274,956
Ensembl chr  X:153,137,992...153,161,628 		JBrowse link
G BGN biglycan ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,045,298...143,059,892
Ensembl chr  X:152,931,608...152,946,292 		JBrowse link
G BRCC3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,550,320...144,592,795
Ensembl chr  X:154,389,283...154,428,669 		JBrowse link
G CCNQ cyclin Q ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,138,574...143,149,824 JBrowse link
G CLIC2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,742,839...144,851,524
Ensembl chr  X:154,581,649...154,641,515 		JBrowse link
G CMC4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,540,603...144,550,152
Ensembl chr  X:154,379,485...154,388,932 		JBrowse link
G CPA6 carboxypeptidase A6 ISO ClinVar Annotator: match by term: Periventricular heterotopia ClinVar PMID:21922598 PMID:23105115 PMID:25741868 PMID:26467025 PMID:26648591 More... NCBI chr 8:63,962,991...64,285,840
Ensembl chr 8:65,624,306...65,946,848 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,243,493...144,257,419
Ensembl chr  X:154,084,412...154,098,475 		JBrowse link
G DNASE1L1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,842,920...143,851,795
Ensembl chr  X:153,712,054...153,725,868 		JBrowse link
G DUSP9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,192,599...143,201,647
Ensembl chr  X:153,084,555...153,088,208 		JBrowse link
G EMD emerin ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,792,178...143,794,530 JBrowse link
G ERMARD ER membrane associated RNA degradation ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:167,823,630...167,854,200
Ensembl chr 6:172,861,675...172,891,822 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,316,192...144,505,773
Ensembl chr  X:154,156,873...154,341,317 		JBrowse link
G F8A1 coagulation factor VIII associated 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,366,123...144,367,842 JBrowse link
G F8A3 coagulation factor VIII associated 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,925,422...144,927,166 JBrowse link
G FAM3A FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,947,867...143,957,966
Ensembl chr  X:153,817,983...153,828,152 		JBrowse link
G FAM50A family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,885,931...143,892,435 JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular | ClinVar Annotator: match by term: Periventricular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1
ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1		 OMIM
ClinVar		 PMID:3265608 PMID:3658675 PMID:6019437 PMID:8290091 PMID:9071288 More... NCBI chr  X:143,799,088...143,825,282 JBrowse link
G FUNDC2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,505,703...144,534,871
Ensembl chr  X:154,345,251...154,374,743 		JBrowse link
G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,972,798...143,988,960
Ensembl chr  X:153,843,092...153,860,674 		JBrowse link
G GAB3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,150,062...144,232,216
Ensembl chr  X:153,993,736...154,038,529 		JBrowse link
G GDI1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,878,690...143,885,251
Ensembl chr  X:153,749,661...153,755,877 		JBrowse link
G HAUS7 HAUS augmin like complex subunit 7 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:142,998,240...143,032,602
Ensembl chr  X:152,881,714...152,907,620 		JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:143,502,159...143,526,418
Ensembl chr  X:153,389,859...153,412,999 		JBrowse link
G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,336,460...143,345,274
Ensembl chr  X:153,222,309...153,231,135 		JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,988,720...144,010,078
Ensembl chr  X:153,854,493...153,876,092 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:143,560,802...143,570,185
Ensembl chr  X:153,446,827...153,460,602 		JBrowse link
G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,412,303...143,437,090
Ensembl chr  X:153,298,690...153,324,228 		JBrowse link
G LAGE3 L antigen family member 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,919,519...143,921,001
Ensembl chr  X:153,790,672...153,792,549 		JBrowse link
G LOC100985575 40-kDa huntingtin-associated protein ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,851,466...144,853,185 JBrowse link
G LOC100992822 histone H2A-Bbd type 2/3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,364,612...144,365,333 JBrowse link
G LOC112438438 paraneoplastic antigen Ma6E ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:142,947,214...142,949,820 JBrowse link
G LOC117977735 histone H2A-Bbd type 2/3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,849,954...144,850,606 JBrowse link
G MAGEA1 MAGE family member A1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:142,727,982...142,732,563 JBrowse link
G MAP1B microtubule associated protein 1B ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia ClinVar PMID:25741868 PMID:29738522 PMID:30150678 NCBI chr 5:43,102,739...43,204,978
Ensembl chr 5:43,701,530...43,803,393 		JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:143,571,864...143,647,192
Ensembl chr  X:153,465,204...153,527,854 		JBrowse link
G MPP1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,258,416...144,285,658
Ensembl chr  X:154,099,463...154,126,575 		JBrowse link
G MTCP1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,542,898...144,550,059
Ensembl chr  X:154,382,737...154,385,472 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:143,484,008...143,489,904 JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr18:51,428,077...51,792,995
Ensembl chr18:54,867,149...55,123,423 		JBrowse link
G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:142,405,340...142,443,723
Ensembl chr  X:152,324,553...152,362,931 		JBrowse link
G PDZD4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,352,944...143,381,428
Ensembl chr  X:153,240,182...153,267,874 		JBrowse link
G PLXNA3 plexin A3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,900,029...143,915,391
Ensembl chr  X:153,772,700...153,786,167 		JBrowse link
G PLXNB3 plexin B3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,314,794...143,330,066
Ensembl chr  X:153,200,971...153,215,909 		JBrowse link
G PNCK pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,220,029...143,224,659
Ensembl chr  X:153,106,491...153,123,897 		JBrowse link
G PNMA3 PNMA family member 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:142,631,788...142,635,768
Ensembl chr  X:152,551,452...152,552,940 		JBrowse link
G PNMA5 PNMA family member 5 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:142,564,200...142,566,785
Ensembl chr  X:152,483,930...152,485,276 		JBrowse link
G PNMA6A PNMA family member 6A ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:142,645,639...142,649,841 JBrowse link
G RAB39B RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,728,535...144,734,893
Ensembl chr  X:154,567,361...154,573,715 		JBrowse link
G RENBP renin binding protein ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:143,490,103...143,499,487
Ensembl chr  X:153,376,847...153,386,214 		JBrowse link
G RPL10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,839,739...143,844,026 JBrowse link
G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,929,086...143,932,406
Ensembl chr  X:153,800,354...153,803,653 		JBrowse link
G SLC6A8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...
G SMIM9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,303,611...144,311,226
Ensembl chr  X:154,144,752...154,151,903 		JBrowse link
G SRPK3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,331,213...143,336,426
Ensembl chr  X:153,216,794...153,222,273 		JBrowse link
G SSR4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,344,286...143,349,272
Ensembl chr  X:153,230,137...153,235,124 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,853,054...143,863,491
Ensembl chr  X:153,725,294...153,734,046 		JBrowse link
G TEX28 testis expressed 28 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular		 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:143,711,495...143,736,128 JBrowse link
G TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:143,736,589...143,772,277 JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:143,527,152...143,533,708
Ensembl chr  X:153,419,802...153,420,587 		JBrowse link
G TMLHE trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,956,906...145,081,204 JBrowse link
G TREX2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:142,995,051...142,998,178 JBrowse link
G UBL4A ubiquitin like 4A ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,925,494...143,928,444 JBrowse link
G VBP1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,685,548...144,709,136
Ensembl chr  X:154,504,795...154,547,773 		JBrowse link
G ZFP92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:142,961,821...142,976,962
Ensembl chr  X:152,848,217...152,863,236 		JBrowse link
G ZNF185 zinc finger protein 185 with LIM domain ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:142,472,497...142,547,835
Ensembl chr  X:152,391,505...152,464,221 		JBrowse link
Periventricular Laminar Heterotopia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Periventricular laminar heterotopia ClinVar PMID:28492532 NCBI chr20:45,262,330...45,376,237
Ensembl chr20:46,327,753...46,442,518 		JBrowse link
Periventricular Nodular Heterotopia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Periventricular heterotopia with microcephaly, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:12682315 PMID:14647276 PMID:17576681 PMID:18414213 More... NCBI chr20:45,262,330...45,376,237
Ensembl chr20:46,327,753...46,442,518 		JBrowse link
G DCHS1 dachsous cadherin-related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr11:6,753,383...6,787,896
Ensembl chr11:6,436,536...6,456,352 		JBrowse link
G FAT4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr 4:117,494,842...117,674,382
Ensembl chr 4:128,637,516...128,814,407 		JBrowse link
Periventricular Nodular Heterotopia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A ISO ClinVar Annotator: match by term: HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT | ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant | ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4 ClinVar PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 More... NCBI chr  X:143,799,088...143,825,282 JBrowse link
G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:143,502,159...143,526,418
Ensembl chr  X:153,389,859...153,412,999 		JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:143,560,802...143,570,185
Ensembl chr  X:153,446,827...153,460,602 		JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:143,571,864...143,647,192
Ensembl chr  X:153,465,204...153,527,854 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:143,484,008...143,489,904 JBrowse link
G RENBP renin binding protein ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:143,490,103...143,499,487
Ensembl chr  X:153,376,847...153,386,214 		JBrowse link
G TEX28 testis expressed 28 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:143,711,495...143,736,128 JBrowse link
G TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:143,736,589...143,772,277 JBrowse link
G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:143,527,152...143,533,708
Ensembl chr  X:153,419,802...153,420,587 		JBrowse link
Periventricular Nodular Heterotopia 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEDD4L NEDD4 like E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Chromosome 5Q14.3 deletion syndrome, distal ClinVar PMID:25741868 PMID:27694961 PMID:28492532 PMID:28515470 NCBI chr18:51,428,077...51,792,995
Ensembl chr18:54,867,149...55,123,423 		JBrowse link
Periventricular Nodular Heterotopia 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERMARD ER membrane associated RNA degradation ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia 6 OMIM
ClinVar		 PMID:24056535 PMID:25741868 PMID:28492532 NCBI chr 6:167,823,630...167,854,200
Ensembl chr 6:172,861,675...172,891,822 		JBrowse link
Periventricular Nodular Heterotopia 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEDD4L NEDD4 like E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: NEDD4L-related condition | ClinVar Annotator: match by term: Periventricular nodular heterotopia 7 | ClinVar Annotator: match by term: Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay OMIM
ClinVar		 PMID:25741868 PMID:27694961 PMID:28492532 PMID:28515470 PMID:32117442 More... NCBI chr18:51,428,077...51,792,995
Ensembl chr18:54,867,149...55,123,423 		JBrowse link
Periventricular Nodular Heterotopia 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARF1 ADP ribosylation factor 1 ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia 8 OMIM
ClinVar		 PMID:25741868 PMID:28868155 NCBI chr 1:203,484,803...203,501,395
Ensembl chr 1:208,695,615...208,712,105 		JBrowse link
Periventricular Nodular Heterotopia 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP1B microtubule associated protein 1B ISO ClinVar Annotator: match by term: MAP1B-related condition | ClinVar Annotator: match by term: Periventricular nodular heterotopia 9 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29738522 PMID:30150678 PMID:30979967 More... NCBI chr 5:43,102,739...43,204,978
Ensembl chr 5:43,701,530...43,803,393 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    physical disorder 4917
      congenital nervous system abnormality 1487
        periventricular nodular heterotopia 76
          Periventricular Laminar Heterotopia 1
          Periventricular Nodular Heterotopia 2 3
          Periventricular Nodular Heterotopia 3 0
          Periventricular Nodular Heterotopia 4 9
          Periventricular Nodular Heterotopia 5 1
          Periventricular Nodular Heterotopia 6 1
          Periventricular Nodular Heterotopia 7 1
          Periventricular Nodular Heterotopia 8 1
          Periventricular Nodular Heterotopia 9 1
          Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 0
Path 2
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        genetic disease 17786
          monogenic disease 10253
            autosomal genetic disease 9439
              autosomal dominant disease 6185
                complex cortical dysplasia with other brain malformations 1582
                  Malformations of Cortical Development, Group II 188
                    periventricular nodular heterotopia 76
                      Periventricular Laminar Heterotopia 1
                      Periventricular Nodular Heterotopia 2 3
                      Periventricular Nodular Heterotopia 3 0
                      Periventricular Nodular Heterotopia 4 9
                      Periventricular Nodular Heterotopia 5 1
                      Periventricular Nodular Heterotopia 6 1
                      Periventricular Nodular Heterotopia 7 1
                      Periventricular Nodular Heterotopia 8 1
                      Periventricular Nodular Heterotopia 9 1
                      Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 0
paths to the root