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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Abnormal basal ganglia morphology
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Accession:HP:0002134 term browser browse the term
Definition:Abnormality of the basal ganglia.
Comment:The basal ganglia are a group of nuclei (striatum, pallidum substantia nigra, and the subthalamic nucleus) at the base of the forebrain that are connected to the cerebral cortex, the thalamus, and other areas. The basal ganglia subserve motor functions that are distinct from those of the pyramidal (corticospinal) tract, for which reason neurologic abnormalities caused by lesions to the basal ganglia are often referred to as extrapyramidal.
Synonyms:exact_synonym: Abnormality of the basal ganglia;   Anomaly of the basal ganglia;   Basal ganglia disease
 alt_id: HP:0006952;   HP:0007257
 xref: MESH:D001480;   SNOMEDCT_US:70835005;   UMLS:C0004782



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Abnormal basal ganglia morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM1 apoptosis inducing factor mitochondria associated 1 IAGP HPO OMIM:300816 NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879
JBrowse link
G AUH AU RNA binding methylglutaconyl-CoA hydratase IAGP HPO ORPHA:67046 NCBI chr 9:91,213,823...91,361,918
Ensembl chr 9:91,213,815...91,361,918
JBrowse link
G BMPR2 bone morphogenetic protein receptor type 2 IAGP ClinVar Annotator: match by term: Abnormal basal ganglia morphology ClinVar PMID:12358323 PMID:25741868 PMID:28492532 NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP ClinVar Annotator: match by term: Basal ganglia disease ClinVar PMID:25741868 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025
JBrowse link
G CLPB ClpB family mitochondrial disaggregase IAGP HPO ORPHA:445038 NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP HPO ORPHA:228308 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO ORPHA:397715 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778
JBrowse link
G FDXR ferredoxin reductase IAGP HPO ORPHA:543470 NCBI chr17:74,862,497...74,872,994
Ensembl chr17:74,862,497...74,873,031
JBrowse link
G FOXP2 forkhead box P2 IAGP HPO OMIM:602081 NCBI chr 7:114,086,327...114,693,765
Ensembl chr 7:114,086,327...114,693,772
JBrowse link
G FTL ferritin light chain IAGP HPO ORPHA:157846 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,966,879
JBrowse link
G GCDH glutaryl-CoA dehydrogenase IAGP HPO ORPHA:25 NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,160...12,914,207
JBrowse link
G GSX2 GS homeobox 2 IAGP HPO OMIM:618646 NCBI chr 4:54,100,163...54,102,498
Ensembl chr 4:54,099,523...54,102,498
JBrowse link
G HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 IAGP HPO ORPHA:391428 NCBI chr  X:53,431,258...53,434,376
Ensembl chr  X:53,431,258...53,434,370
JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP ClinVar Annotator: match by term: Abnormality of the basal ganglia ClinVar PMID:24686847 PMID:24995871 PMID:25741868 PMID:26833990 PMID:28492532 More... NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
JBrowse link
G KIAA0586 KIAA0586 IAGP HPO ORPHA:397715 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297
JBrowse link
G PDHX pyruvate dehydrogenase complex component X IAGP HPO ORPHA:255182 NCBI chr11:34,915,920...34,996,128
Ensembl chr11:34,915,829...35,020,591
JBrowse link
G PNPT1 polyribonucleotide nucleotidyltransferase 1 IAGP HPO ORPHA:319514 NCBI chr 2:55,634,061...55,693,844
Ensembl chr 2:55,634,061...55,693,863
JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO ORPHA:447896 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522
JBrowse link
G PRNP prion protein (Kanno blood group) IAGP HPO ORPHA:157941 NCBI chr20:4,686,456...4,701,588
Ensembl chr20:4,686,350...4,701,590
JBrowse link
G SLC19A3 solute carrier family 19 member 3 IAGP HPO OMIM:607483 ORPHA:263410 NCBI chr 2:227,683,763...227,718,028
Ensembl chr 2:227,683,763...227,718,028
JBrowse link
G SUCLA2 succinate-CoA ligase ADP-forming subunit beta IAGP HPO OMIM:612073 NCBI chr13:47,942,656...48,001,273
Ensembl chr13:47,745,736...48,037,968
JBrowse link
G TK2 thymidine kinase 2 IAGP HPO OMIM:609560 NCBI chr16:66,508,003...66,550,291
Ensembl chr16:66,508,003...66,552,544
JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B IAGP ClinVar Annotator: match by term: Abnormal basal ganglia morphology ClinVar PMID:17464555 PMID:20652909 PMID:25741868 PMID:28492532 PMID:33859323 More... NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118
JBrowse link
G TUBB3 tubulin beta 3 class III IAGP HPO ORPHA:300570 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761
JBrowse link
Abnormal basal ganglia MRI signal intensity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase IAGP HPO ORPHA:79326 NCBI chr 9:99,216,425...99,221,942
Ensembl chr 9:99,216,425...99,221,942
JBrowse link
G ASPA aspartoacylase IAGP HPO ORPHA:314918 NCBI chr17:3,474,110...3,503,405
Ensembl chr17:3,472,374...3,503,405
JBrowse link
G BMPR2 bone morphogenetic protein receptor type 2 IAGP ClinVar Annotator: match by term: Abnormal basal ganglia MRI signal intensity ClinVar PMID:12358323 PMID:25741868 PMID:28492532 NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751
JBrowse link
G ETHE1 ETHE1 persulfide dioxygenase IAGP HPO ORPHA:51188 NCBI chr19:43,506,719...43,527,201
Ensembl chr19:43,506,719...43,527,230
JBrowse link
G FASTKD2 FAST kinase domains 2 IAGP HPO OMIM:618855 NCBI chr 2:206,765,606...206,796,189
Ensembl chr 2:206,765,357...206,796,189
JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO ORPHA:672 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G GTPBP3 GTP binding protein 3, mitochondrial IAGP HPO ORPHA:444013 NCBI chr19:17,334,982...17,342,731
Ensembl chr19:17,334,920...17,342,731
JBrowse link
G MFF mitochondrial fission factor IAGP HPO ORPHA:485421 NCBI chr 2:227,325,251...227,357,836
Ensembl chr 2:227,325,151...227,357,833
JBrowse link
G MICU1 mitochondrial calcium uptake 1 IAGP HPO ORPHA:401768 NCBI chr10:72,367,340...72,626,079
Ensembl chr10:72,367,340...72,626,131
JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP ClinVar Annotator: match by term: Abnormal basal ganglia MRI signal intensity ClinVar
HPO
PMID:25741868 ORPHA:644 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207
JBrowse link
G MT-TE mitochondrially encoded tRNA-Glu (GAA/G) IAGP ClinVar Annotator: match by term: Abnormal basal ganglia MRI signal intensity ClinVar PMID:25741868 NCBI chr MT:14,674...14,742
Ensembl chr MT:14,674...14,742
JBrowse link
G NADK2 NAD kinase 2, mitochondrial IAGP HPO ORPHA:431361 NCBI chr 5:36,192,589...36,242,279
Ensembl chr 5:36,192,589...36,242,279
JBrowse link
G SLC30A10 solute carrier family 30 member 10 IAGP HPO ORPHA:309854 NCBI chr 1:219,910,445...219,959,098
Ensembl chr 1:219,685,427...219,959,018
JBrowse link
G SUCLG1 succinate-CoA ligase GDP/ADP-forming subunit alpha IAGP HPO ORPHA:17 NCBI chr 2:84,423,528...84,459,280
Ensembl chr 2:84,423,528...84,460,045
JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B IAGP ClinVar Annotator: match by term: Abnormal basal ganglia MRI signal intensity ClinVar PMID:17464555 PMID:20652909 PMID:25741868 PMID:28492532 PMID:33859323 More... NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118
JBrowse link
G TUBB4A tubulin beta 4A class IVa IAGP ClinVar Annotator: match by term: Abnormal basal ganglia MRI signal intensity ClinVar PMID:24785942 PMID:25741868 PMID:32581362 NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848
JBrowse link
Abnormal caudate nucleus morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP13A2 ATPase cation transporting 13A2 IAGP HPO ORPHA:314632 NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928
JBrowse link
G COASY Coenzyme A synthase IAGP HPO ORPHA:397725 NCBI chr17:42,562,148...42,566,277
Ensembl chr17:42,561,467...42,566,277
JBrowse link
G DCX doublecortin IAGP HPO ORPHA:2148 NCBI chr  X:111,293,779...111,412,192
Ensembl chr  X:111,293,779...111,412,429
JBrowse link
G FOXP2 forkhead box P2 IAGP HPO ORPHA:209908 NCBI chr 7:114,086,327...114,693,765
Ensembl chr 7:114,086,327...114,693,772
JBrowse link
G FTL ferritin light chain IAGP HPO ORPHA:157846 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,966,879
JBrowse link
G GCDH glutaryl-CoA dehydrogenase IAGP HPO ORPHA:25 NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,160...12,914,207
JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP DNA:transversion: :m.8993T>G RGD PMID:14598233 RGD:5490291 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207
JBrowse link
G TUBB2B tubulin beta 2B class IIb IAGP HPO ORPHA:300573 NCBI chr 6:3,224,277...3,227,653
Ensembl chr 6:3,223,324...3,231,730
JBrowse link
Abnormal corpus striatum morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM1 apoptosis inducing factor mitochondria associated 1 IAGP HPO ORPHA:238329 NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879
JBrowse link
G COASY Coenzyme A synthase IAGP HPO ORPHA:397725 NCBI chr17:42,562,148...42,566,277
Ensembl chr17:42,561,467...42,566,277
JBrowse link
G CP ceruloplasmin IAGP HPO ORPHA:48818 NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829
JBrowse link
G JPH3 junctophilin 3 IAGP HPO ORPHA:98934 NCBI chr16:87,601,835...87,698,156
Ensembl chr16:87,601,835...87,698,156
JBrowse link
G NDE1 nudE neurodevelopment protein 1 IAGP HPO ORPHA:2177 NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691
JBrowse link
G PDE10A phosphodiesterase 10A IAGP HPO OMIM:616922 ORPHA:494541 NCBI chr 6:165,327,289...165,988,052
Ensembl chr 6:165,327,287...165,988,117
JBrowse link
G PNPT1 polyribonucleotide nucleotidyltransferase 1 IAGP HPO ORPHA:319514 NCBI chr 2:55,634,061...55,693,844
Ensembl chr 2:55,634,061...55,693,863
JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO ORPHA:3455 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522
JBrowse link
Abnormal globus pallidus morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP ClinVar Annotator: match by term: Abnormal globus pallidus morphology ClinVar PMID:25741868 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025
JBrowse link
G COASY Coenzyme A synthase IAGP HPO ORPHA:397725 NCBI chr17:42,562,148...42,566,277
Ensembl chr17:42,561,467...42,566,277
JBrowse link
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 IAGP HPO ORPHA:909 NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293
JBrowse link
G CYP2U1 cytochrome P450 family 2 subfamily U member 1 IAGP HPO ORPHA:320411 NCBI chr 4:107,931,549...107,953,461
Ensembl chr 4:107,931,549...107,953,461
JBrowse link
G HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 IAGP ClinVar Annotator: match by term: Abnormal globus pallidus morphology ClinVar PMID:25741868 PMID:30755392 NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP HPO ORPHA:99646 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 IAGP HPO ORPHA:439218 NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677
JBrowse link
G MMUT methylmalonyl-CoA mutase IAGP HPO OMIM:251000 NCBI chr 6:49,430,360...49,463,253
Ensembl chr 6:49,430,360...49,463,253
JBrowse link
G POLR2A RNA polymerase II subunit A IAGP HPO OMIM:618603 NCBI chr17:7,484,366...7,514,616
Ensembl chr17:7,484,366...7,514,616
JBrowse link
G SLC30A10 solute carrier family 30 member 10 IAGP HPO ORPHA:309854 NCBI chr 1:219,910,445...219,959,098
Ensembl chr 1:219,685,427...219,959,018
JBrowse link
Abnormal putamen morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FTL ferritin light chain IAGP HPO ORPHA:157846 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,966,879
JBrowse link
G GCDH glutaryl-CoA dehydrogenase IAGP HPO ORPHA:25 NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,160...12,914,207
JBrowse link
G RANBP2 RAN binding protein 2 IAGP HPO ORPHA:88619 NCBI chr 2:108,719,482...109,842,301
Ensembl chr 2:108,719,482...108,785,810
JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A IAGP HPO ORPHA:2388 NCBI chr 9:77,177,534...77,421,537
Ensembl chr 9:77,177,445...77,421,537
JBrowse link
Abnormal substantia nigra morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATXN2 ataxin 2 IAGP HPO ORPHA:98756 NCBI chr12:111,452,214...111,599,673
Ensembl chr12:111,443,485...111,599,676
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP ClinVar Annotator: match by term: Abnormality of the substantia nigra ClinVar PMID:25741868 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025
JBrowse link
G GCH1 GTP cyclohydrolase 1 IAGP HPO ORPHA:98808 NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826
JBrowse link
G IMPDH2 inosine monophosphate dehydrogenase 2 IAGP HPO ORPHA:98808 NCBI chr 3:49,024,325...49,029,398
Ensembl chr 3:49,024,325...49,029,447
JBrowse link
G NR4A2 nuclear receptor subfamily 4 group A member 2 IAGP HPO ORPHA:98808 NCBI chr 2:156,324,437...156,332,721
Ensembl chr 2:156,324,437...156,342,348
JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP HPO ORPHA:2822 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688
JBrowse link
Atrophy/Degeneration involving the caudate nucleus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific IAGP HPO ORPHA:225154 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013
JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP HPO ORPHA:225154 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207
JBrowse link
G NUP54 nucleoporin 54 IAGP HPO ORPHA:225154 NCBI chr 4:76,114,664...76,148,397
Ensembl chr 4:76,107,562...76,148,485
JBrowse link
G NUP62 nucleoporin 62 IAGP HPO ORPHA:225154 NCBI chr19:49,906,825...49,929,504
Ensembl chr19:49,906,825...49,929,764
JBrowse link
Basal ganglia calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVR1 activin A receptor type 1 IAGP HPO OMIM:135100 NCBI chr 2:157,736,446...157,876,330
Ensembl chr 2:157,736,251...157,876,330
JBrowse link
G AP1S2 adaptor related protein complex 1 subunit sigma 2 IAGP HPO OMIM:304340 NCBI chr  X:15,825,806...15,854,813
Ensembl chr  X:15,825,806...15,854,931
JBrowse link
G CA2 carbonic anhydrase 2 IAGP HPO OMIM:259730 ORPHA:2785 NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493
JBrowse link
G CASR calcium sensing receptor IAGP HPO OMIM:601198 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629
JBrowse link
G CYP2U1 cytochrome P450 family 2 subfamily U member 1 IAGP HPO OMIM:615030 NCBI chr 4:107,931,549...107,953,461
Ensembl chr 4:107,931,549...107,953,461
JBrowse link
G DENND5A DENN domain containing 5A IAGP HPO OMIM:617281 NCBI chr11:9,138,825...9,265,350
Ensembl chr11:9,138,825...9,265,959
JBrowse link
G DNM1L dynamin 1 like IAGP HPO ORPHA:98673 NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650
JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit IAGP HPO OMIM:610651 NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166
JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO ORPHA:90321 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO OMIM:133540 OMIM:214150 OMIM:278800 ORPHA:90321 ORPHA:90324 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP HPO OMIM:216400 ORPHA:90321 ORPHA:90324 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073
JBrowse link
G EXOSC2 exosome component 2 IAGP HPO OMIM:617763 NCBI chr 9:130,693,760...130,704,894
Ensembl chr 9:130,693,721...130,707,288
JBrowse link
G FAM111A FAM111 trypsin like peptidase A IAGP HPO OMIM:127000 ORPHA:93325 NCBI chr11:59,142,856...59,155,039
Ensembl chr11:59,142,748...59,155,039
JBrowse link
G GATA3 GATA binding protein 3 IAGP HPO OMIM:146255 NCBI chr10:8,045,333...8,075,198
Ensembl chr10:8,045,378...8,075,198
JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO OMIM:164200 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
G GNA11 G protein subunit alpha 11 IAGP HPO OMIM:615361 NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999
JBrowse link
G GNAS GNAS complex locus IAGP HPO OMIM:103580 OMIM:612462 ORPHA:79443 ORPHA:79444 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO OMIM:615846 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
JBrowse link
G ISG15 ISG15 ubiquitin like modifier IAGP HPO OMIM:616126 NCBI chr 1:1,013,497...1,014,540
Ensembl chr 1:1,001,138...1,014,540
JBrowse link
G JAM2 junctional adhesion molecule 2 IAGP HPO OMIM:618824 NCBI chr21:25,639,258...25,717,562
Ensembl chr21:25,639,258...25,717,562
JBrowse link
G LOC126863256 BRD4-independent group 4 enhancer GRCh37_chrX:48934848-48936047 IAGP ClinVar Annotator: match by term: Basal ganglia calcification ClinVar PMID:32581362 NCBI chr  X:49,077,189...49,078,388 JBrowse link
G LSM11 LSM11, U7 small nuclear RNA associated IAGP HPO OMIM:619486 NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709
JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP HPO ORPHA:550 NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445
JBrowse link
G MT-CO2 mitochondrially encoded cytochrome c oxidase II IAGP HPO ORPHA:550 NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269
JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP HPO ORPHA:550 NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990
JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP HPO ORPHA:550 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262
JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP HPO ORPHA:550 NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137
JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 IAGP HPO ORPHA:550 NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148
JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 IAGP HPO ORPHA:550 NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673
JBrowse link
G MT-TF mitochondrially encoded tRNA-Phe (UUU/C) IAGP HPO ORPHA:550 NCBI chr MT:577...647
Ensembl chr MT:577...647
JBrowse link
G MT-TH mitochondrially encoded tRNA-His (CAU/C) IAGP HPO ORPHA:550 NCBI chr MT:12,138...12,206
Ensembl chr MT:12,138...12,206
JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP HPO ORPHA:550 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304
JBrowse link
G MT-TQ mitochondrially encoded tRNA-Gln (CAA/G) IAGP HPO ORPHA:550 NCBI chr MT:4,329...4,400
Ensembl chr MT:4,329...4,400
JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP HPO ORPHA:550 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514
JBrowse link
G MT-TS2 mitochondrially encoded tRNA-Ser (AGU/C) 2 IAGP HPO ORPHA:550 NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265
JBrowse link
G MT-TW mitochondrially encoded tRNA-Trp (UGA/G) IAGP HPO ORPHA:550 NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579
JBrowse link
G MYORG myogenesis regulating glycosidase (putative) IAGP HPO OMIM:618317 NCBI chr 9:34,366,666...34,376,898
Ensembl chr 9:34,366,666...34,376,898
JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP HPO ORPHA:98673 NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811
JBrowse link
G PDGFB platelet derived growth factor subunit B IAGP HPO OMIM:213600 OMIM:615483 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP HPO OMIM:213600 OMIM:615007 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
JBrowse link
G PSMB8 proteasome 20S subunit beta 8 IAGP HPO OMIM:256040 NCBI chr 6:32,840,717...32,844,679
Ensembl chr 6:32,840,717...32,844,679
JBrowse link
G PSMG2 proteasome assembly chaperone 2 IAGP HPO OMIM:619183 NCBI chr18:12,658,738...12,725,740
Ensembl chr18:12,658,043...12,728,945
JBrowse link
G RBBP8 RB binding protein 8, endonuclease IAGP HPO OMIM:606744 NCBI chr18:22,914,139...23,026,486
Ensembl chr18:22,798,261...23,026,488
JBrowse link
G RNASEH2B ribonuclease H2 subunit B IAGP HPO OMIM:610181 NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120
JBrowse link
G RNU7-1 RNA, U7 small nuclear 1 IAGP HPO OMIM:619487 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878
JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 IAGP HPO OMIM:612952 NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893
JBrowse link
G SLC20A2 solute carrier family 20 member 2 IAGP HPO OMIM:213600 NCBI chr 8:42,416,475...42,541,954
Ensembl chr 8:42,416,475...42,541,926
JBrowse link
G SLC25A46 solute carrier family 25 member 46 IAGP HPO OMIM:616505 NCBI chr 5:110,738,145...110,765,157
Ensembl chr 5:110,738,136...110,765,161
JBrowse link
G SLC46A1 solute carrier family 46 member 1 IAGP HPO OMIM:229050 NCBI chr17:28,394,642...28,406,592
Ensembl chr17:28,394,642...28,407,197
JBrowse link
G SNORD118 small nucleolar RNA, C/D box 118 IAGP HPO ORPHA:542310 NCBI chr17:8,173,452...8,173,588
Ensembl chr17:8,173,454...8,173,587
JBrowse link
G TREM2 triggering receptor expressed on myeloid cells 2 IAGP HPO OMIM:618193 NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186
JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO OMIM:225750 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
JBrowse link
G TYROBP transmembrane immune signaling adaptor TYROBP IAGP HPO OMIM:221770 NCBI chr19:35,904,403...35,908,295
Ensembl chr19:35,904,401...35,908,295
JBrowse link
G WDR45 WD repeat domain 45 IAGP ClinVar Annotator: match by term: Basal ganglia calcification ClinVar PMID:32581362 NCBI chr  X:49,074,442...49,101,178
Ensembl chr  X:49,074,433...49,101,170
JBrowse link
G XPR1 xenotropic and polytropic retrovirus receptor 1 IAGP HPO OMIM:616413 NCBI chr 1:180,632,022...180,890,279
Ensembl chr 1:180,632,022...180,890,279
JBrowse link
Basal ganglia cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific IAGP HPO ORPHA:225154 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP HPO OMIM:608836 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
JBrowse link
G GFM1 G elongation factor mitochondrial 1 IAGP HPO OMIM:609060 NCBI chr 3:158,644,527...158,695,581
Ensembl chr 3:158,644,527...158,695,581
JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP HPO ORPHA:79243 NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572
JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP HPO ORPHA:225154 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207
JBrowse link
G NUP54 nucleoporin 54 IAGP HPO ORPHA:225154 NCBI chr 4:76,114,664...76,148,397
Ensembl chr 4:76,107,562...76,148,485
JBrowse link
G NUP62 nucleoporin 62 IAGP HPO ORPHA:225154 NCBI chr19:49,906,825...49,929,504
Ensembl chr19:49,906,825...49,929,764
JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 IAGP HPO OMIM:312170 ORPHA:79243 NCBI chr  X:19,343,927...19,361,718
Ensembl chr  X:19,343,893...19,361,718
JBrowse link
Basal ganglia gliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific IAGP HPO ORPHA:225154 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013
JBrowse link
G FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial IAGP HPO OMIM:614946 NCBI chr 6:5,249,934...5,771,583
Ensembl chr 6:5,261,044...5,829,192
JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP HPO ORPHA:79243 NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572
JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP HPO ORPHA:225154 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207
JBrowse link
G NUP54 nucleoporin 54 IAGP HPO ORPHA:225154 NCBI chr 4:76,114,664...76,148,397
Ensembl chr 4:76,107,562...76,148,485
JBrowse link
G NUP62 nucleoporin 62 IAGP HPO ORPHA:225154 NCBI chr19:49,906,825...49,929,504
Ensembl chr19:49,906,825...49,929,764
JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 IAGP HPO ORPHA:79243 NCBI chr  X:19,343,927...19,361,718
Ensembl chr  X:19,343,893...19,361,718
JBrowse link
G PRNP prion protein (Kanno blood group) IAGP HPO OMIM:603218 NCBI chr20:4,686,456...4,701,588
Ensembl chr20:4,686,350...4,701,590
JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 IAGP HPO OMIM:604377 NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461
JBrowse link
G VRK1 VRK serine/threonine kinase 1 IAGP HPO OMIM:607596 NCBI chr14:96,797,382...96,881,609
Ensembl chr14:96,797,304...96,954,846
JBrowse link
Basal ganglia necrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LONP1 lon peptidase 1, mitochondrial IAGP HPO ORPHA:79243 NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572
JBrowse link
G NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 IAGP HPO OMIM:618239 NCBI chr 8:94,895,799...95,118,496
Ensembl chr 8:94,895,533...95,116,455
JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 IAGP HPO ORPHA:79243 NCBI chr  X:19,343,927...19,361,718
Ensembl chr  X:19,343,893...19,361,718
JBrowse link
Bilateral basal ganglia lesions term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP ClinVar Annotator: match by term: Bilateral basal ganglia lesions ClinVar PMID:25741868 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025
JBrowse link
G COX15 cytochrome c oxidase assembly homolog COX15 IAGP HPO OMIM:615119 NCBI chr10:99,694,293...99,732,127
Ensembl chr10:99,710,868...99,732,127
JBrowse link
G DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 IAGP HPO ORPHA:66634 NCBI chr 3:180,983,709...180,989,838
Ensembl chr 3:180,983,697...180,989,774
JBrowse link
G RFT1 RFT1 homolog IAGP HPO ORPHA:244310 NCBI chr 3:53,066,853...53,130,435
Ensembl chr 3:53,088,483...53,130,453
JBrowse link
Caudate atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASNS asparagine synthetase (glutamine-hydrolyzing) IAGP HPO OMIM:615574 NCBI chr 7:97,851,677...97,928,441
Ensembl chr 7:97,851,677...97,872,542
JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP HPO ORPHA:363400 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845
JBrowse link
G FOXP2 forkhead box P2 IAGP HPO ORPHA:209908 NCBI chr 7:114,086,327...114,693,765
Ensembl chr 7:114,086,327...114,693,772
JBrowse link
G FTL ferritin light chain IAGP HPO ORPHA:157846 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,966,879
JBrowse link
G HTT huntingtin IAGP HPO OMIM:617435 ORPHA:399 NCBI chr 4:3,074,681...3,243,960
Ensembl chr 4:3,041,363...3,243,957
JBrowse link
G JPH3 junctophilin 3 IAGP HPO ORPHA:98934 NCBI chr16:87,601,835...87,698,156
Ensembl chr16:87,601,835...87,698,156
JBrowse link
G NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 IAGP HPO OMIM:618238 NCBI chr20:13,785,028...13,821,580
Ensembl chr20:13,785,007...13,821,580
JBrowse link
G NEK1 NIMA related kinase 1 IAGP HPO OMIM:617892 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632
JBrowse link
G OPHN1 oligophrenin 1 IAGP HPO ORPHA:137831 NCBI chr  X:68,042,344...68,433,841
Ensembl chr  X:67,949,349...68,433,913
JBrowse link
G SLC2A3 solute carrier family 2 member 3 IAGP HPO ORPHA:399 NCBI chr12:7,919,230...7,936,187
Ensembl chr12:7,919,230...8,019,007
JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A IAGP HPO ORPHA:52368 NCBI chr  X:101,345,661...101,348,742
Ensembl chr  X:101,345,661...101,348,742
JBrowse link
G TREM2 triggering receptor expressed on myeloid cells 2 IAGP HPO OMIM:618193 NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186
JBrowse link
G TYROBP transmembrane immune signaling adaptor TYROBP IAGP HPO OMIM:221770 NCBI chr19:35,904,403...35,908,295
Ensembl chr19:35,904,401...35,908,295
JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A IAGP HPO OMIM:200150 ORPHA:2388 NCBI chr 9:77,177,534...77,421,537
Ensembl chr 9:77,177,445...77,421,537
JBrowse link
Cavitation of the basal ganglia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FTL ferritin light chain IAGP HPO OMIM:606159 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,966,879
JBrowse link
Degeneration of the striatum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific IAGP HPO ORPHA:51 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013
JBrowse link
G ATXN3 ataxin 3 IAGP HPO ORPHA:276238 ORPHA:276241 ORPHA:276244 NCBI chr14:92,044,775...92,106,582
Ensembl chr14:92,044,496...92,106,621
JBrowse link
G HTT huntingtin IAGP HPO ORPHA:399 NCBI chr 4:3,074,681...3,243,960
Ensembl chr 4:3,041,363...3,243,957
JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO ORPHA:51 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
JBrowse link
G LSM11 LSM11, U7 small nuclear RNA associated IAGP HPO ORPHA:51 NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709
JBrowse link
G PDE8B phosphodiesterase 8B IAGP HPO OMIM:609161 NCBI chr 5:77,086,715...77,428,256
Ensembl chr 5:77,210,449...77,428,256
Ensembl chr 5:77,210,449...77,428,256
JBrowse link
G RNASEH2A ribonuclease H2 subunit A IAGP HPO ORPHA:51 NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640
JBrowse link
G RNASEH2B ribonuclease H2 subunit B IAGP HPO ORPHA:51 NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120
JBrowse link
G RNASEH2C ribonuclease H2 subunit C IAGP HPO ORPHA:51 NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818
JBrowse link
G RNU7-1 RNA, U7 small nuclear 1 IAGP HPO ORPHA:51 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878
JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 IAGP HPO ORPHA:51 NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893
JBrowse link
G SLC2A3 solute carrier family 2 member 3 IAGP HPO ORPHA:399 NCBI chr12:7,919,230...7,936,187
Ensembl chr12:7,919,230...8,019,007
JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO ORPHA:51 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
JBrowse link
Dysgenesis of the basal ganglia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAMSAP1 calmodulin regulated spectrin associated protein 1 IAGP HPO OMIM:620316 NCBI chr 9:135,808,487...135,907,546
Ensembl chr 9:135,808,487...135,907,546
JBrowse link
G TUBA1A tubulin alpha 1a IAGP HPO ORPHA:171680 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,080
JBrowse link
G TUBB tubulin beta class I IAGP HPO OMIM:615771 NCBI chr 6:30,720,352...30,725,422
Ensembl chr 6:30,717,435...30,725,538
JBrowse link
G TUBB2B tubulin beta 2B class IIb IAGP HPO ORPHA:300573 NCBI chr 6:3,224,277...3,227,653
Ensembl chr 6:3,223,324...3,231,730
JBrowse link
G TUBB3 tubulin beta 3 class III IAGP HPO OMIM:600638 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761
JBrowse link
Eye of the tiger anomaly of globus pallidus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C19orf12 chromosome 19 open reading frame 12 IAGP HPO OMIM:614298 NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789
JBrowse link
G COASY Coenzyme A synthase IAGP HPO ORPHA:397725 NCBI chr17:42,562,148...42,566,277
Ensembl chr17:42,561,467...42,566,277
JBrowse link
G DLAT dihydrolipoamide S-acetyltransferase IAGP HPO ORPHA:79244 NCBI chr11:112,025,408...112,064,404
Ensembl chr11:112,025,033...112,064,404
JBrowse link
G FA2H fatty acid 2-hydroxylase IAGP HPO ORPHA:171629 NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831
JBrowse link
G FTL ferritin light chain IAGP HPO ORPHA:157846 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,966,879
JBrowse link
G NUDT2 nudix hydrolase 2 IAGP HPO OMIM:619844 NCBI chr 9:34,329,569...34,343,699
Ensembl chr 9:34,329,506...34,343,711
JBrowse link
G PANK2 pantothenate kinase 2 IAGP HPO OMIM:234200 ORPHA:216866 NCBI chr20:3,888,781...3,929,887
Ensembl chr20:3,888,839...3,929,887
JBrowse link
G PLA2G6 phospholipase A2 group VI IAGP HPO ORPHA:35069 NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778
JBrowse link
G VPS41 VPS41 subunit of HOPS complex IAGP HPO OMIM:619389 NCBI chr 7:38,722,974...38,909,191
Ensembl chr 7:38,722,974...38,932,394
JBrowse link
G WDR45 WD repeat domain 45 IAGP HPO OMIM:300894 NCBI chr  X:49,074,442...49,101,178
Ensembl chr  X:49,074,433...49,101,170
JBrowse link
Focal T2 hyperintense basal ganglia lesion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase IAGP HPO OMIM:607906 NCBI chr 9:99,216,425...99,221,942
Ensembl chr 9:99,216,425...99,221,942
JBrowse link
G CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin IAGP HPO ORPHA:79264 NCBI chr16:28,466,653...28,492,082
Ensembl chr16:28,474,111...28,495,575
JBrowse link
G CLN5 CLN5 intracellular trafficking protein IAGP HPO ORPHA:79264 NCBI chr13:76,992,081...77,005,117
Ensembl chr13:76,990,660...77,019,143
JBrowse link
G CLN6 CLN6 transmembrane ER protein IAGP HPO ORPHA:79264 NCBI chr15:68,206,992...68,257,211
Ensembl chr15:68,206,992...68,257,211
JBrowse link
G CLN8 CLN8 transmembrane ER and ERGIC protein IAGP HPO ORPHA:79264 NCBI chr 8:1,753,059...1,786,570
Ensembl chr 8:1,755,778...1,801,711
JBrowse link
G CTSD cathepsin D IAGP HPO ORPHA:79264 NCBI chr11:1,752,755...1,763,927
Ensembl chr11:1,752,752...1,764,573
JBrowse link
G DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 IAGP HPO ORPHA:79264 NCBI chr20:63,895,126...63,936,011
Ensembl chr20:63,895,126...63,936,031
JBrowse link
G ETHE1 ETHE1 persulfide dioxygenase IAGP HPO OMIM:602473 NCBI chr19:43,506,719...43,527,201
Ensembl chr19:43,506,719...43,527,230
JBrowse link
G GFAP glial fibrillary acidic protein IAGP HPO ORPHA:363717 NCBI chr17:44,903,159...44,915,500
Ensembl chr17:44,903,159...44,916,937
JBrowse link
G GRN granulin precursor IAGP HPO ORPHA:79264 NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106
JBrowse link
G LRPPRC leucine rich pentatricopeptide repeat containing IAGP HPO ORPHA:70472 NCBI chr 2:43,886,224...43,996,265
Ensembl chr 2:43,886,224...43,996,226
JBrowse link
G MFSD8 major facilitator superfamily domain containing 8 IAGP HPO ORPHA:79264 NCBI chr 4:127,917,732...127,965,963
Ensembl chr 4:127,917,799...127,966,034
JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP HPO ORPHA:255210 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207
JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP HPO ORPHA:255210 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262
JBrowse link
G MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 IAGP HPO ORPHA:255210 NCBI chr MT:4,470...5,511
Ensembl chr MT:4,470...5,511
JBrowse link
G MT-ND3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 IAGP HPO ORPHA:255210 NCBI chr MT:10,059...10,404
Ensembl chr MT:10,059...10,404
JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 IAGP HPO ORPHA:255210 NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137
JBrowse link
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 IAGP HPO ORPHA:255210 NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148
JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 IAGP HPO ORPHA:255210 NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673
JBrowse link
G MT-TK mitochondrially encoded tRNA-Lys (AAA/G) IAGP HPO ORPHA:255210 NCBI chr MT:8,295...8,364
Ensembl chr MT:8,295...8,364
JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP HPO ORPHA:255210 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304
JBrowse link
G MT-TV mitochondrially encoded tRNA-Val (GUN) IAGP HPO ORPHA:255210 NCBI chr MT:1,602...1,670
Ensembl chr MT:1,602...1,670
JBrowse link
G MT-TW mitochondrially encoded tRNA-Trp (UGA/G) IAGP HPO ORPHA:255210 NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579
JBrowse link
G NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 IAGP HPO OMIM:618226 NCBI chr 2:206,114,817...206,159,444
Ensembl chr 2:206,114,817...206,159,509
JBrowse link
G NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 IAGP HPO OMIM:252010 NCBI chr 5:53,560,639...53,683,338
Ensembl chr 5:53,560,633...53,683,338
JBrowse link
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Hyperintense lesions in the basal ganglia on MRI ClinVar PMID:10712197 PMID:10726756 PMID:10862084 PMID:15146469 PMID:15846561 More... NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G PDSS2 decaprenyl diphosphate synthase subunit 2 IAGP HPO OMIM:614652 NCBI chr 6:107,152,562...107,459,564
Ensembl chr 6:107,152,562...107,459,564
JBrowse link
G PPT1 palmitoyl-protein thioesterase 1 IAGP HPO ORPHA:79264 NCBI chr 1:40,071,461...40,097,252
Ensembl chr 1:40,072,710...40,097,260
JBrowse link
G PRNP prion protein (Kanno blood group) IAGP HPO ORPHA:282166 NCBI chr20:4,686,456...4,701,588
Ensembl chr20:4,686,350...4,701,590
JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP HPO ORPHA:2822 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688
JBrowse link
G SUCLG1 succinate-CoA ligase GDP/ADP-forming subunit alpha IAGP HPO OMIM:245400 NCBI chr 2:84,423,528...84,459,280
Ensembl chr 2:84,423,528...84,460,045
JBrowse link
G TACO1 translational activator of cytochrome c oxidase I IAGP HPO OMIM:619052 NCBI chr17:63,600,895...63,608,365
Ensembl chr17:63,600,882...63,608,365
JBrowse link
G TPP1 tripeptidyl peptidase 1 IAGP HPO ORPHA:79264 NCBI chr11:6,612,768...6,619,422
Ensembl chr11:6,612,768...6,619,448
JBrowse link
Focal T2 hypointense basal ganglia lesion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COQ8A coenzyme Q8A IAGP HPO ORPHA:139485 NCBI chr 1:226,940,294...226,987,544
Ensembl chr 1:226,940,286...226,987,544
JBrowse link
G NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 IAGP HPO OMIM:252010 NCBI chr 5:53,560,639...53,683,338
Ensembl chr 5:53,560,633...53,683,338
JBrowse link
Fusion of the caudate and putamen term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TUBB3 tubulin beta 3 class III IAGP HPO OMIM:614039 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761
JBrowse link
Globus pallidus calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGO1 argonaute RISC component 1 IAGP HPO OMIM:620292 NCBI chr 1:35,869,761...35,930,532
Ensembl chr 1:35,869,808...35,930,532
JBrowse link
Globus pallidus hypointensity on susceptibility-weighted imaging term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GTPBP2 GTP binding protein 2 IAGP HPO OMIM:617988 NCBI chr 6:43,620,494...43,631,333
Ensembl chr 6:43,605,316...43,629,264
JBrowse link
G KMT2B lysine methyltransferase 2B IAGP HPO ORPHA:589618 NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880
JBrowse link
G SLC44A1 solute carrier family 44 member 1 IAGP HPO OMIM:618868 NCBI chr 9:105,244,651...105,438,504
Ensembl chr 9:105,244,622...105,439,171
JBrowse link
G VPS16 VPS16 core subunit of CORVET and HOPS complexes IAGP HPO OMIM:619291 NCBI chr20:2,840,745...2,866,732
Ensembl chr20:2,840,703...2,866,732
JBrowse link
Hemiballismus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 IAGP HPO OMIM:618877 NCBI chr 2:37,099,210...37,156,980
Ensembl chr 2:37,099,210...37,157,522
JBrowse link
G MRM2 mitochondrial rRNA methyltransferase 2 IAGP HPO OMIM:618567 NCBI chr 7:2,234,195...2,242,205
Ensembl chr 7:2,234,195...2,242,205
JBrowse link
G PDE10A phosphodiesterase 10A IAGP HPO OMIM:616921 ORPHA:494526 NCBI chr 6:165,327,289...165,988,052
Ensembl chr 6:165,327,287...165,988,117
JBrowse link
G SYT1 synaptotagmin 1 IAGP HPO ORPHA:522077 NCBI chr12:78,863,982...79,452,008
Ensembl chr12:78,863,993...79,452,008
JBrowse link
Iron accumulation in substantia nigra term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FTL ferritin light chain IAGP HPO ORPHA:157846 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,966,879
JBrowse link
G TBCE tubulin folding cofactor E IAGP HPO ORPHA:496756 NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443
JBrowse link
G VPS41 VPS41 subunit of HOPS complex IAGP HPO OMIM:619389 NCBI chr 7:38,722,974...38,909,191
Ensembl chr 7:38,722,974...38,932,394
JBrowse link
G WDR45 WD repeat domain 45 IAGP HPO ORPHA:329284 NCBI chr  X:49,074,442...49,101,178
Ensembl chr  X:49,074,433...49,101,170
JBrowse link
Large basal ganglia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATR ATR serine/threonine kinase IAGP HPO OMIM:210600 NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733
JBrowse link
G TUBB3 tubulin beta 3 class III IAGP HPO ORPHA:300570 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761
JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO OMIM:235730 ORPHA:261537 ORPHA:261552 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
JBrowse link
Neuronal loss in basal ganglia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HTT huntingtin IAGP HPO ORPHA:248111 NCBI chr 4:3,074,681...3,243,960
Ensembl chr 4:3,041,363...3,243,957
JBrowse link
G MAPT microtubule associated protein tau IAGP HPO OMIM:601104 NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334
JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 IAGP HPO OMIM:604377 NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461
JBrowse link
G VRK1 VRK serine/threonine kinase 1 IAGP HPO OMIM:607596 NCBI chr14:96,797,382...96,881,609
Ensembl chr14:96,797,304...96,954,846
JBrowse link
Pallidal degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GCDH glutaryl-CoA dehydrogenase IAGP HPO ORPHA:25 NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,160...12,914,207
JBrowse link
Small basal ganglia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific IAGP HPO ORPHA:225154 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013
JBrowse link
G CNTNAP1 contactin associated protein 1 IAGP HPO OMIM:616286 NCBI chr17:42,682,531...42,699,993
Ensembl chr17:42,682,531...42,699,993
JBrowse link
G CYB5A cytochrome b5 type A IAGP HPO ORPHA:621 NCBI chr18:74,250,846...74,291,963
Ensembl chr18:74,250,846...74,291,973
JBrowse link
G CYB5R3 cytochrome b5 reductase 3 IAGP HPO ORPHA:621 NCBI chr22:42,617,840...42,649,392
Ensembl chr22:42,615,730...42,720,870
JBrowse link
G FDXR ferredoxin reductase IAGP HPO ORPHA:543470 NCBI chr17:74,862,497...74,872,994
Ensembl chr17:74,862,497...74,873,031
JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase IAGP HPO ORPHA:88639 NCBI chr 2:190,189,735...190,319,826
Ensembl chr 2:190,189,735...190,344,193
JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP HPO ORPHA:225154 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207
JBrowse link
G NANS N-acetylneuraminate synthase IAGP HPO OMIM:610442 NCBI chr 9:98,056,732...98,083,077
Ensembl chr 9:98,056,732...98,083,077
JBrowse link
G NUP54 nucleoporin 54 IAGP HPO ORPHA:225154 NCBI chr 4:76,114,664...76,148,397
Ensembl chr 4:76,107,562...76,148,485
JBrowse link
G NUP62 nucleoporin 62 IAGP HPO ORPHA:225154 NCBI chr19:49,906,825...49,929,504
Ensembl chr19:49,906,825...49,929,764
JBrowse link
G SLC19A3 solute carrier family 19 member 3 IAGP HPO ORPHA:263410 NCBI chr 2:227,683,763...227,718,028
Ensembl chr 2:227,683,763...227,718,028
JBrowse link
G TBCK TBC1 domain containing kinase IAGP HPO OMIM:616900 NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683
JBrowse link
G TUBB3 tubulin beta 3 class III IAGP HPO ORPHA:300570 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761
JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A IAGP HPO ORPHA:2388 NCBI chr 9:77,177,534...77,421,537
Ensembl chr 9:77,177,445...77,421,537
JBrowse link
Status cribrosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HTRA1 HtrA serine peptidase 1 IAGP HPO OMIM:616779 NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907
JBrowse link
Striatal T2 hyperintensity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MECR mitochondrial trans-2-enoyl-CoA reductase IAGP HPO ORPHA:508093 NCBI chr 1:29,167,696...29,230,934
Ensembl chr 1:29,192,657...29,230,942
JBrowse link
G PDE10A phosphodiesterase 10A IAGP HPO ORPHA:494541 NCBI chr 6:165,327,289...165,988,052
Ensembl chr 6:165,327,287...165,988,117
JBrowse link
Substantia nigra gliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADH1C alcohol dehydrogenase 1C (class I), gamma polypeptide IAGP HPO OMIM:168600 NCBI chr 4:99,336,497...99,352,746
Ensembl chr 4:99,336,497...99,352,746
JBrowse link
G ATXN2 ataxin 2 IAGP HPO OMIM:168600 NCBI chr12:111,452,214...111,599,673
Ensembl chr12:111,443,485...111,599,676
JBrowse link
G ATXN3 ataxin 3 IAGP HPO OMIM:168600 ORPHA:276238 ORPHA:276241 ORPHA:276244 NCBI chr14:92,044,775...92,106,582
Ensembl chr14:92,044,496...92,106,621
JBrowse link
G ATXN8OS ATXN8 opposite strand lncRNA IAGP HPO OMIM:168600 NCBI chr13:70,107,421...70,171,738
Ensembl chr13:70,107,213...70,171,738
JBrowse link
G BDNF brain derived neurotrophic factor no_association IAGP DNA:polymorphisms: :196G>A (p.V66M), 270C>T RGD PMID:16565926 RGD:10059346 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
JBrowse link
G FBXO7 F-box protein 7 IAGP HPO ORPHA:171695 NCBI chr22:32,474,811...32,498,829
Ensembl chr22:32,474,676...32,498,829
JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO OMIM:168600 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G LRRK2 leucine rich repeat kinase 2 IAGP HPO OMIM:607060 NCBI chr12:40,224,997...40,369,285
Ensembl chr12:40,196,744...40,369,285
JBrowse link
G MAPT microtubule associated protein tau IAGP HPO OMIM:168600 NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334
JBrowse link
G MT-TT mitochondrially encoded tRNA-Thr (ACN) IAGP HPO OMIM:168600 NCBI chr MT:15,888...15,953
Ensembl chr MT:15,888...15,953
JBrowse link
G NR4A2 nuclear receptor subfamily 4 group A member 2 IAGP HPO OMIM:168600 NCBI chr 2:156,324,437...156,332,721
Ensembl chr 2:156,324,437...156,342,348
JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase IAGP HPO OMIM:600116 NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775
JBrowse link
G SNCA synuclein alpha IAGP HPO ORPHA:171695 NCBI chr 4:89,724,099...89,838,304
Ensembl chr 4:89,700,345...89,838,315
JBrowse link
G SNCAIP synuclein alpha interacting protein IAGP HPO OMIM:168600 NCBI chr 5:122,311,353...122,464,219
Ensembl chr 5:122,311,354...122,464,219
JBrowse link
G TBP TATA-box binding protein IAGP HPO OMIM:168600 NCBI chr 6:170,554,369...170,572,859
Ensembl chr 6:170,554,302...170,572,870
JBrowse link
Substantia nigra hypointensity on susceptibility-weighted imaging term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GTPBP2 GTP binding protein 2 IAGP HPO OMIM:617988 NCBI chr 6:43,620,494...43,631,333
Ensembl chr 6:43,605,316...43,629,264
JBrowse link
G SLC44A1 solute carrier family 44 member 1 IAGP HPO OMIM:618868 NCBI chr 9:105,244,651...105,438,504
Ensembl chr 9:105,244,622...105,439,171
JBrowse link
Symmetric lesions of the basal ganglia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDE8B phosphodiesterase 8B IAGP HPO OMIM:609161 NCBI chr 5:77,086,715...77,428,256
Ensembl chr 5:77,210,449...77,428,256
Ensembl chr 5:77,210,449...77,428,256
JBrowse link
T2 hypointense basal ganglia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GCDH glutaryl-CoA dehydrogenase IAGP HPO ORPHA:25 NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,160...12,914,207
JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO ORPHA:79255 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202
JBrowse link
G VPS11 VPS11 core subunit of CORVET and HOPS complexes IAGP HPO OMIM:619637 NCBI chr11:119,067,818...119,081,972
Ensembl chr11:119,067,818...119,081,972
JBrowse link
Thinning of the substantia nigra pars compacta term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NR4A2 nuclear receptor subfamily 4 group A member 2 IAGP HPO OMIM:619911 NCBI chr 2:156,324,437...156,332,721
Ensembl chr 2:156,324,437...156,342,348
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of the nervous system 15589
        Abnormal nervous system morphology 4218
          Morphological central nervous system abnormality 4108
            Abnormal brain morphology 3004
              Abnormal forebrain morphology 2324
                Abnormal cerebral morphology 2229
                  Abnormal cerebral subcortex morphology 1220
                    Abnormal basal ganglia morphology 203
                      Abnormal basal ganglia MRI signal intensity + 51
                      Abnormal corpus striatum morphology + 42
                      Abnormal globus pallidus morphology + 25
                      Abnormal substantia nigra morphology + 25
                      Basal ganglia calcification 55
                      Basal ganglia cysts 8
                      Basal ganglia edema 0
                      Basal ganglia gliosis 10
                      Basal ganglia necrosis 3
                      Bilateral basal ganglia lesions 4
                      Cavitation of the basal ganglia 1
                      Dysgenesis of the basal ganglia 5
                      Hemiballismus 4
                      Large basal ganglia 3
                      Neuronal loss in basal ganglia 4
                      Small basal ganglia 14
                      Status cribrosum 1
                      Symmetric lesions of the basal ganglia 1
paths to the root