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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:Cerebral calcification
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Accession:HP:0002514 term browser browse the term
Definition:The presence of calcium deposition within the cerebrum.
Comment:This finding can be demonstrated upon cerebral computer tomography, magnetic resonance imaging, or potentially by standard radiography of the skull. The cerebrum is the largest of the five major components of the brain, which comprise the cerebrum, cerebellum, brain stem, pituitary gland, and hypothalamus.
Synonyms:exact_synonym: Abnormal deposits of calcium in the brain
 alt_id: HP:0002502;   HP:0005806;   HP:0006848
 xref: SNOMEDCT_US:17944005;   UMLS:C0270685


show annotations for term's descendants           Sort by:
Cerebral calcification term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO ORPHA:51608 ORPHA:758 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522 		JBrowse link
G ACD ACD shelterin complex subunit and telomerase recruitment factor IAGP HPO ORPHA:3322 NCBI chr16:67,657,512...67,660,260
Ensembl chr16:67,657,512...67,660,810 		JBrowse link
G ACP5 acid phosphatase 5, tartrate resistant IAGP HPO OMIM:607944 ORPHA:1855 NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993 		JBrowse link
G ADAR adenosine deaminase RNA specific IAGP HPO OMIM:615010 ORPHA:51 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G AIRE autoimmune regulator IAGP HPO ORPHA:3453 NCBI chr21:44,285,876...44,298,648
Ensembl chr21:44,285,838...44,298,648 		JBrowse link
G AMER1 APC membrane recruitment protein 1 IAGP HPO ORPHA:2780 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708 		JBrowse link
G AP1S2 adaptor related protein complex 1 subunit sigma 2 IAGP HPO OMIM:304340 ORPHA:85335 NCBI chr  X:15,825,806...15,854,813
Ensembl chr  X:15,825,806...15,854,931 		JBrowse link
G APP amyloid beta precursor protein IAGP HPO ORPHA:100006 NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128 		JBrowse link
G ATP7A ATPase copper transporting alpha IAGP HPO ORPHA:198 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:54595 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		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 CLCNKB chloride voltage-gated channel Kb IAGP HPO ORPHA:358 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP HPO ORPHA:560 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:85198 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP ClinVar Annotator: match by term: Cerebral calcification ClinVar PMID:7695699 PMID:8218237 PMID:9016532 PMID:16598045 PMID:17078022 More... NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,157 		JBrowse link
G COLGALT1 collagen beta(1-O)galactosyltransferase 1 IAGP HPO OMIM:618360 NCBI chr19:17,555,649...17,583,157
Ensembl chr19:17,555,649...17,583,162 		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 CSF1R colony stimulating factor 1 receptor IAGP HPO OMIM:618476 NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372 		JBrowse link
G CTC1 CST telomere replication complex component 1 IAGP HPO OMIM:612199 ORPHA:1775 NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058 		JBrowse link
G CTNNB1 catenin beta 1 IAGP HPO ORPHA:54595 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G CTNS cystinosin, lysosomal cystine transporter IAGP HPO OMIM:219800 NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103 		JBrowse link
G CTSC cathepsin C IAGP HPO ORPHA:678 NCBI chr11:88,293,592...88,337,736
Ensembl chr11:88,265,069...88,359,684 		JBrowse link
G DAG1 dystroglycan 1 IAGP HPO OMIM:616538 NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618 		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 DKC1 dyskerin pseudouridine synthase 1 IAGP HPO ORPHA:1775 ORPHA:3322 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689 		JBrowse link
G ECM1 extracellular matrix protein 1 IAGP HPO ORPHA:530 NCBI chr 1:150,508,109...150,513,789
Ensembl chr 1:150,508,062...150,513,789 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO ORPHA:51608 ORPHA:758 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP HPO ORPHA:1466 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP HPO ORPHA:1466 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918 		JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease IAGP HPO ORPHA:1466 NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO ORPHA:1466 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G FAM20C FAM20C golgi associated secretory pathway kinase IAGP HPO OMIM:259775 NCBI chr 7:192,571...260,772
Ensembl chr 7:192,571...260,772 		JBrowse link
G FARSB phenylalanyl-tRNA synthetase subunit beta IAGP ClinVar Annotator: match by term: Intracranial calcifications ClinVar
HPO		 PMID:29979980 OMIM:613658 NCBI chr 2:222,566,899...222,656,092
Ensembl chr 2:222,566,899...222,656,092 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:2396 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO ORPHA:2710 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G GNAQ G protein subunit alpha q IAGP HPO ORPHA:3205 ORPHA:624 NCBI chr 9:77,716,097...78,031,811
Ensembl chr 9:77,716,097...78,031,811 		JBrowse link
G GNAS GNAS complex locus IAGP HPO ORPHA:79443 ORPHA:79444 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 IAGP HPO OMIM:212750 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP HPO OMIM:212750 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO ORPHA:2612 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		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 IFNG interferon gamma IAGP HPO OMIM:613254 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G IRF8 interferon regulatory factor 8 IAGP HPO OMIM:226990 NCBI chr16:85,899,162...85,922,609
Ensembl chr16:85,899,116...85,922,606 		JBrowse link
G JAM2 junctional adhesion molecule 2 IAGP HPO ORPHA:1980 NCBI chr21:25,639,258...25,717,562
Ensembl chr21:25,639,258...25,717,562 		JBrowse link
G KARS1 lysyl-tRNA synthetase 1 IAGP HPO OMIM:619147 NCBI chr16:75,627,724...75,647,665
Ensembl chr16:75,627,474...75,648,643 		JBrowse link
G KATNB1 katanin regulatory subunit B1 IAGP HPO ORPHA:89844 NCBI chr16:57,735,770...57,757,244
Ensembl chr16:57,735,739...57,757,244 		JBrowse link
G KL klotho IAGP HPO OMIM:617994 NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:2396 ORPHA:2612 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G KRIT1 KRIT1 ankyrin repeat containing IAGP HPO OMIM:116860 NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,197,498...92,246,166 		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 MGP matrix Gla protein IAGP HPO OMIM:245150 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857 		JBrowse link
G MYMK myomaker, myoblast fusion factor IAGP HPO ORPHA:1358 NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612 		JBrowse link
G MYMX myomixer, myoblast fusion factor IAGP HPO ORPHA:1358 NCBI chr 6:44,192,721...44,218,234
Ensembl chr 6:44,216,926...44,218,234 		JBrowse link
G MYO5A myosin VA IAGP HPO ORPHA:79476 NCBI chr15:52,307,283...52,529,050
Ensembl chr15:52,307,281...52,529,132 		JBrowse link
G MYORG myogenesis regulating glycosidase (putative) IAGP HPO ORPHA:1980 NCBI chr 9:34,366,666...34,376,898
Ensembl chr 9:34,366,666...34,376,898 		JBrowse link
G NDE1 nudE neurodevelopment protein 1 IAGP HPO ORPHA:89844 NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691 		JBrowse link
G NHP2 NHP2 ribonucleoprotein IAGP HPO OMIM:613987 ORPHA:1775 NCBI chr 5:178,149,463...178,153,885
Ensembl chr 5:178,149,463...178,153,894 		JBrowse link
G NOP10 NOP10 ribonucleoprotein IAGP HPO ORPHA:1775 NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180 		JBrowse link
G NPM1 nucleophosmin 1 IAGP HPO ORPHA:1775 NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO ORPHA:2612 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G NSMCE3 NSE3 homolog, SMC5-SMC6 complex component IAGP HPO OMIM:617241 NCBI chr15:29,264,989...29,269,822
Ensembl chr15:29,264,989...29,269,822 		JBrowse link
G OCLN occludin IAGP HPO OMIM:251290 ORPHA:1229 NCBI chr 5:69,492,547...69,558,104
Ensembl chr 5:69,492,292...69,558,104 		JBrowse link
G ODC1 ornithine decarboxylase 1 IAGP HPO OMIM:619075 NCBI chr 2:10,439,968...10,448,327
Ensembl chr 2:10,439,968...10,448,327 		JBrowse link
G PAH phenylalanine hydroxylase IAGP HPO OMIM:261600 ORPHA:79254 NCBI chr12:102,836,889...102,958,441
Ensembl chr12:102,836,889...102,958,410 		JBrowse link
G PARN poly(A)-specific ribonuclease IAGP HPO ORPHA:1775 ORPHA:3322 NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728 		JBrowse link
G PDGFB platelet derived growth factor subunit B IAGP HPO OMIM:615483 ORPHA:1980 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 ORPHA:1980 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP HPO ORPHA:3220 NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520 		JBrowse link
G PEX6 peroxisomal biogenesis factor 6 IAGP HPO ORPHA:3220 NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181 		JBrowse link
G POT1 protection of telomeres 1 IAGP HPO OMIM:620368 NCBI chr 7:124,822,386...124,929,825
Ensembl chr 7:124,822,386...124,929,983 		JBrowse link
G PPFIBP1 PPFIA binding protein 1 IAGP ClinVar Annotator: match by term: Cerebral calcification ClinVar
HPO		 PMID:25741868 PMID:35830857 OMIM:620024 NCBI chr12:27,524,206...27,695,564
Ensembl chr12:27,523,431...27,695,564 		JBrowse link
G PTCH1 patched 1 IAGP HPO ORPHA:377 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G PTCH2 patched 2 IAGP HPO ORPHA:377 NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,844...44,843,253 		JBrowse link
G PTH parathyroid hormone IAGP HPO OMIM:146200 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181 		JBrowse link
G QDPR quinoid dihydropteridine reductase IAGP HPO OMIM:261630 NCBI chr 4:17,486,395...17,512,090
Ensembl chr 4:17,460,261...17,512,206 		JBrowse link
G RELN reelin IAGP HPO ORPHA:89844 NCBI chr 7:103,471,789...103,989,658
Ensembl chr 7:103,471,381...103,989,658 		JBrowse link
G RNASEH2A ribonuclease H2 subunit A IAGP HPO OMIM:610333 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 OMIM:610329 ORPHA:51 NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818 		JBrowse link
G RNASET2 ribonuclease T2 IAGP HPO OMIM:612951 NCBI chr 6:166,922,113...166,956,550
Ensembl chr 6:166,922,113...166,957,191 		JBrowse link
G RNU7-1 RNA, U7 small nuclear 1 IAGP HPO OMIM:619487 ORPHA:51 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878 		JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP HPO ORPHA:1775 ORPHA:3322 NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253 		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 SC5D sterol-C5-desaturase IAGP HPO ORPHA:46059 NCBI chr11:121,292,771...121,313,410
Ensembl chr11:121,292,681...121,313,410 		JBrowse link
G SLC12A3 solute carrier family 12 member 3 IAGP HPO ORPHA:358 NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850 		JBrowse link
G SLC20A2 solute carrier family 20 member 2 IAGP HPO ORPHA:1980 NCBI chr 8:42,416,475...42,541,954
Ensembl chr 8:42,416,475...42,541,926 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO ORPHA:628 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G SLC29A3 solute carrier family 29 member 3 IAGP HPO ORPHA:1782 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
G SLC46A1 solute carrier family 46 member 1 IAGP HPO ORPHA:90045 NCBI chr17:28,394,642...28,406,592
Ensembl chr17:28,394,642...28,407,197 		JBrowse link
G SLC4A4 solute carrier family 4 member 4 IAGP HPO OMIM:604278 NCBI chr 4:71,062,660...71,572,083
Ensembl chr 4:71,062,667...71,572,087 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP HPO ORPHA:99966 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G SNORD118 small nucleolar RNA, C/D box 118 IAGP HPO OMIM:614561 ORPHA:542310 NCBI chr17:8,173,452...8,173,588
Ensembl chr17:8,173,454...8,173,587 		JBrowse link
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 IAGP HPO ORPHA:1393 NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853 		JBrowse link
G STAT2 signal transducer and activator of transcription 2 IAGP HPO OMIM:618886 NCBI chr12:56,341,597...56,360,107
Ensembl chr12:56,341,597...56,360,203 		JBrowse link
G SUCLA2 succinate-CoA ligase ADP-forming subunit beta IAGP HPO ORPHA:1933 NCBI chr13:47,942,656...48,001,273
Ensembl chr13:47,745,736...48,037,968 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP HPO ORPHA:377 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO ORPHA:1782 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895 		JBrowse link
G TERC telomerase RNA component IAGP HPO ORPHA:1775 NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047 		JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO ORPHA:1775 ORPHA:3322 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 IAGP HPO OMIM:268130 OMIM:613990 ORPHA:1775 ORPHA:3322 NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663 		JBrowse link
G TNFRSF11A TNF receptor superfamily member 11a IAGP HPO ORPHA:1782 NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,287...62,391,288 		JBrowse link
G TREM2 triggering receptor expressed on myeloid cells 2 IAGP HPO ORPHA:2770 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 ORPHA:247691 ORPHA:51 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
G TSC1 TSC complex subunit 1 IAGP HPO OMIM:191100 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874 		JBrowse link
G TSC2 TSC complex subunit 2 IAGP HPO OMIM:613254 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
G TYMS thymidylate synthetase IAGP HPO ORPHA:1775 NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578 		JBrowse link
G TYROBP transmembrane immune signaling adaptor TYROBP IAGP HPO ORPHA:2770 NCBI chr19:35,904,403...35,908,295
Ensembl chr19:35,904,401...35,908,295 		JBrowse link
G USB1 U6 snRNA biogenesis phosphodiesterase 1 IAGP HPO ORPHA:1775 NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618 		JBrowse link
G USP18 ubiquitin specific peptidase 18 IAGP HPO OMIM:617397 NCBI chr22:18,150,170...18,177,397
Ensembl chr22:18,150,118...18,177,397 		JBrowse link
G VPS33A VPS33A core subunit of CORVET and HOPS complexes IAGP HPO OMIM:617303 ORPHA:505248 NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,494 		JBrowse link
G WRAP53 WD repeat containing antisense to TP53 IAGP HPO ORPHA:1775 NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502 		JBrowse link
G WWOX WW domain containing oxidoreductase IAGP HPO OMIM:616211 NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667 		JBrowse link
G XPR1 xenotropic and polytropic retrovirus receptor 1 IAGP HPO ORPHA:1980 NCBI chr 1:180,632,022...180,890,279
Ensembl chr 1:180,632,022...180,890,279 		JBrowse link
G ZBTB20 zinc finger and BTB domain containing 20 IAGP HPO OMIM:259050 NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,292 		JBrowse link
G ZNFX1 zinc finger NFX1-type containing 1 IAGP HPO OMIM:619644 NCBI chr20:49,245,900...49,278,057
Ensembl chr20:49,237,946...49,278,426 		JBrowse link
Basal ganglia calcification term browser
Symbol Object Name 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
Bilateral intracerebral calcifications term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ECM1 extracellular matrix protein 1 IAGP HPO OMIM:247100 NCBI chr 1:150,508,109...150,513,789
Ensembl chr 1:150,508,062...150,513,789 		JBrowse link
Calcification of falx cerebri term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO OMIM:177850 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP HPO OMIM:154780 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP HPO OMIM:271665 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405 		JBrowse link
G PTCH1 patched 1 IAGP HPO OMIM:109400 ORPHA:377 ORPHA:77301 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G PTCH2 patched 2 IAGP HPO ORPHA:377 NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,844...44,843,253 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP HPO OMIM:620343 ORPHA:377 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
G ZSWIM6 zinc finger SWIM-type containing 6 IAGP HPO OMIM:603671 NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172 		JBrowse link
Intracerebral periventricular calcifications term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPT2 carnitine palmitoyltransferase 2 IAGP HPO OMIM:608836 ORPHA:228308 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197 		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 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 SLC2A1 solute carrier family 2 member 1 IAGP HPO OMIM:608885 ORPHA:168577 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893 		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 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
Subcortical white matter calcifications term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP HPO ORPHA:90322 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO OMIM:133540 ORPHA:90322 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 ORPHA:90322 ORPHA:90324 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073 		JBrowse link
G KARS1 lysyl-tRNA synthetase 1 IAGP HPO ORPHA:3240 NCBI chr16:75,627,724...75,647,665
Ensembl chr16:75,627,474...75,648,643 		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
Temporal lobe calcification term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ECM1 extracellular matrix protein 1 IAGP HPO OMIM:247100 NCBI chr 1:150,508,109...150,513,789
Ensembl chr 1:150,508,062...150,513,789 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of the musculoskeletal system 4416
        Abnormality of the skeletal system 3652
          Ectopic calcification 252
            Intracranial calcification 151
              Cerebral calcification 151
                Basal ganglia calcification 55
                Bilateral intracerebral calcifications 1
                Calcification of falx cerebri 7
                Congenital intracerebral calcification 0
                Diffuse cerebral calcification 0
                Intracerebral periventricular calcifications 6
                Midline brain calcifications 0
                Nonarteriosclerotic cerebral calcification 0
                Subcortical white matter calcifications 5
                Temporal lobe calcification 1
Path 2
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 cortex morphology 837
                    Abnormal temporal lobe morphology 152
                      Cerebral calcification 151
                        Basal ganglia calcification 55
                        Bilateral intracerebral calcifications 1
                        Calcification of falx cerebri 7
                        Congenital intracerebral calcification 0
                        Diffuse cerebral calcification 0
                        Intracerebral periventricular calcifications 6
                        Midline brain calcifications 0
                        Nonarteriosclerotic cerebral calcification 0
                        Subcortical white matter calcifications 5
                        Temporal lobe calcification 1
paths to the root