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ONTOLOGY REPORT - ANNOTATIONS


Term:Cerebral calcification
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Accession:HP:0002514 term browser browse the term
Definition:The presence of calcium deposition within brain structures.
Comment:This finding can be demonstrated upon cerebral computer tomography, magnetic resonance imaging, or potentially by standard radiography of the skull.
Synonyms:exact_synonym: Abnormal deposits of calcium in the brain;   Brain calcification;   Intracerebral calcifications;   Intracranial calcification;   Intracranial calcifications
 alt_id: HP:0002502;   HP:0005806;   HP:0006848
 xref: SNOMEDCT_US:17944005;   UMLS:C0270685


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Cerebral calcification term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCC6 ATP binding cassette subfamily C member 6 JBrowse link 16 16,149,565 16,223,617 RGD:8699517
G ACD ACD shelterin complex subunit and telomerase recruitment factor JBrowse link 16 67,657,512 67,660,832 RGD:8699517
G ADAR adenosine deaminase RNA specific JBrowse link 1 154,582,057 154,631,560 RGD:8699517
G AIRE autoimmune regulator JBrowse link 21 44,285,876 44,298,648 RGD:8699517
G AMER1 APC membrane recruitment protein 1 JBrowse link X 64,185,117 64,205,708 RGD:8699517
G AP1S2 adaptor related protein complex 1 subunit sigma 2 JBrowse link X 15,825,806 15,854,966 RGD:8699517
G APP amyloid beta precursor protein JBrowse link 21 25,880,550 26,171,128 RGD:8699517
G ATP7A ATPase copper transporting alpha JBrowse link X 77,910,656 78,050,395 RGD:8699517
G BRAF B-Raf proto-oncogene, serine/threonine kinase JBrowse link 7 140,719,331 140,924,929 RGD:8699517
G CA2 carbonic anhydrase 2 JBrowse link 8 85,463,902 85,481,493 RGD:8699517
G CLCNKB chloride voltage-gated channel Kb JBrowse link 1 16,043,782 16,057,326 RGD:8699517
G COL11A1 collagen type XI alpha 1 chain JBrowse link 1 102,876,467 103,108,580 RGD:8699517
G COL2A1 collagen type II alpha 1 chain JBrowse link 12 47,972,967 48,006,212 RGD:8699517
G COLGALT1 collagen beta(1-O)galactosyltransferase 1 JBrowse link 19 17,555,649 17,583,159 RGD:8699517
G CTC1 CST telomere replication complex component 1 JBrowse link 17 8,224,815 8,248,079 RGD:8699517
G CTNNB1 catenin beta 1 JBrowse link 3 41,199,422 41,240,445 RGD:8699517
G CTNS cystinosin, lysosomal cystine transporter JBrowse link 17 3,636,468 3,663,103 RGD:8699517
G CTSC cathepsin C JBrowse link 11 88,293,592 88,337,736 RGD:8699517
G CYP27A1 cytochrome P450 family 27 subfamily A member 1 JBrowse link 2 218,781,733 218,815,293 RGD:8699517
G DAG1 dystroglycan 1 JBrowse link 3 49,468,703 49,535,618 RGD:8699517
G DENND5A DENN domain containing 5A JBrowse link 11 9,138,825 9,265,350 RGD:8699517
G DKC1 dyskerin pseudouridine synthase 1 JBrowse link X 154,762,742 154,777,689 RGD:8699517
G ECM1 extracellular matrix protein 1 JBrowse link 1 150,508,109 150,513,789 RGD:8699517
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 JBrowse link 6 131,808,020 131,895,155 RGD:8699517
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit JBrowse link 19 45,407,334 45,451,547 RGD:8699517
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit JBrowse link 19 45,349,837 45,370,647 RGD:8699517
G ERCC5 ERCC excision repair 5, endonuclease JBrowse link 13 102,846,032 102,875,995 RGD:8699517
G ERCC6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 10 49,454,470 49,539,538 RGD:8699517
G FAM20C FAM20C golgi associated secretory pathway kinase JBrowse link 7 192,571 260,772 RGD:8699517
G FARSB phenylalanyl-tRNA synthetase subunit beta JBrowse link 2 222,566,899 222,656,092 RGD:8699517
G FGFR1 fibroblast growth factor receptor 1 JBrowse link 8 38,411,138 38,468,834 RGD:8699517
G GCM2 glial cells missing transcription factor 2 JBrowse link 6 10,873,223 10,882,041 RGD:8699517
G GJA1 gap junction protein alpha 1 JBrowse link 6 121,435,646 121,449,727 RGD:8699517
G GNAQ G protein subunit alpha q JBrowse link 9 77,716,097 78,031,811 RGD:8699517
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 JBrowse link 6 32,637,406 32,654,846 RGD:8699517
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 JBrowse link 6 32,659,467 32,666,657 RGD:8699517
G HRAS HRas proto-oncogene, GTPase JBrowse link 11 532,242 535,576 RGD:8699517
G IFIH1 interferon induced with helicase C domain 1 JBrowse link 2 162,267,074 162,318,684 RGD:8699517
G IFNG interferon gamma JBrowse link 12 68,154,768 68,159,740 RGD:8699517
G KRIT1 KRIT1 ankyrin repeat containing JBrowse link 7 92,198,969 92,246,100 RGD:8699517
G MGP matrix Gla protein JBrowse link 12 14,880,864 14,885,854 RGD:8699517
G MT-CO1 mitochondrially encoded cytochrome c oxidase I JBrowse link MT 5,904 7,445 RGD:8699517
G MT-CO2 mitochondrially encoded cytochrome c oxidase II JBrowse link MT 7,586 8,269 RGD:8699517
G MT-CO3 mitochondrially encoded cytochrome c oxidase III JBrowse link MT 9,207 9,990 RGD:8699517
G MT-ND1 mitochondrially encoded NADH dehydrogenase 1 JBrowse link MT 3,307 4,262 RGD:8699517
G MT-ND4 mitochondrially encoded NADH dehydrogenase 4 JBrowse link MT 10,760 12,137 RGD:8699517
G MT-ND5 mitochondrially encoded NADH dehydrogenase 5 JBrowse link MT 12,337 14,148 RGD:8699517
G MT-ND6 mitochondrially encoded NADH dehydrogenase 6 JBrowse link MT 14,149 14,673 RGD:8699517
G MT-TF mitochondrially encoded tRNA phenylalanine JBrowse link MT 577 647 RGD:8699517
G MT-TH mitochondrially encoded tRNA histidine JBrowse link MT 12,138 12,206 RGD:8699517
G MT-TL1 mitochondrially encoded tRNA leucine 1 (UUA/G) JBrowse link MT 3,230 3,304 RGD:8699517
G MT-TQ mitochondrially encoded tRNA glutamine JBrowse link MT 4,329 4,400 RGD:8699517
G MT-TS1 mitochondrially encoded tRNA serine 1 (UCN) JBrowse link MT 7,446 7,514 RGD:8699517
G MT-TS2 mitochondrially encoded tRNA serine 2 (AGU/C) JBrowse link MT 12,207 12,265 RGD:8699517
G MT-TW mitochondrially encoded tRNA tryptophan JBrowse link MT 5,512 5,579 RGD:8699517
G MYMK myomaker, myoblast fusion factor JBrowse link 9 133,514,586 133,524,959 RGD:8699517
G MYO5A myosin VA JBrowse link 15 52,307,283 52,529,050 RGD:8699517
G MYORG myogenesis regulating glycosidase (putative) JBrowse link 9 34,366,149 34,376,952 RGD:8699517
G NHP2 NHP2 ribonucleoprotein JBrowse link 5 178,149,463 178,153,960 RGD:8699517
G NOP10 NOP10 ribonucleoprotein JBrowse link 15 34,341,719 34,343,136 RGD:8699517
G NRAS NRAS proto-oncogene, GTPase JBrowse link 1 114,704,469 114,716,771 RGD:8699517
G OCLN occludin JBrowse link 5 69,492,547 69,558,104 RGD:8699517
G PAH phenylalanine hydroxylase JBrowse link 12 102,836,889 102,958,441 RGD:8699517
G PARN poly(A)-specific ribonuclease JBrowse link 16 14,435,701 14,630,286 RGD:8699517
G PDGFB platelet derived growth factor subunit B JBrowse link 22 39,223,359 39,244,982 RGD:8699517
G PDGFRB platelet derived growth factor receptor beta JBrowse link 5 150,113,839 150,155,845 RGD:8699517
G PEX1 peroxisomal biogenesis factor 1 JBrowse link 7 92,487,023 92,528,520 RGD:8699517
G PEX6 peroxisomal biogenesis factor 6 JBrowse link 6 42,963,865 42,980,224 RGD:8699517
G PHGDH phosphoglycerate dehydrogenase JBrowse link 1 119,711,934 119,744,218 RGD:8699517
G PSAT1 phosphoserine aminotransferase 1 JBrowse link 9 78,297,125 78,330,093 RGD:8699517
G PTCH1 patched 1 JBrowse link 9 95,442,980 95,517,057 RGD:8699517
G PTH parathyroid hormone JBrowse link 11 13,492,045 13,496,175 RGD:8699517
G QDPR quinoid dihydropteridine reductase JBrowse link 4 17,486,393 17,512,234 RGD:8699517
G RNASEH2A ribonuclease H2 subunit A JBrowse link 19 12,802,054 12,813,645 RGD:8699517
G RNASEH2B ribonuclease H2 subunit B JBrowse link 13 50,909,678 50,970,462 RGD:8699517
G RNASEH2C ribonuclease H2 subunit C JBrowse link 11 65,717,673 65,720,798 RGD:8699517
G RNASET2 ribonuclease T2 JBrowse link 6 166,922,113 166,956,580 RGD:8699517
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 JBrowse link 20 36,889,773 36,951,708 RGD:8699517
G SC5D sterol-C5-desaturase JBrowse link 11 121,292,771 121,313,410 RGD:8699517
G SLC12A3 solute carrier family 12 member 3 JBrowse link 16 56,865,207 56,915,850 RGD:8699517
G SLC16A2 solute carrier family 16 member 2 JBrowse link X 74,421,493 74,533,916 RGD:8699517
G SLC20A2 solute carrier family 20 member 2 JBrowse link 8 42,416,462 42,542,143 RGD:8699517
G SLC26A2 solute carrier family 26 member 2 JBrowse link 5 149,960,758 149,987,400 RGD:8699517
G SLC29A3 solute carrier family 29 member 3 JBrowse link 10 71,319,253 71,363,390 RGD:8699517
G SLC46A1 solute carrier family 46 member 1 JBrowse link 17 28,394,642 28,406,630 RGD:8699517
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 JBrowse link 22 23,786,966 23,838,009 RGD:8699517
G SNORD118 small nucleolar RNA, C/D box 118 JBrowse link 17 8,173,453 8,173,588 RGD:8699517
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 JBrowse link 20 2,461,642 2,470,789 RGD:8699517
G SUCLA2 succinate-CoA ligase ADP-forming subunit beta JBrowse link 13 47,942,656 48,001,326 RGD:8699517
G SUFU SUFU negative regulator of hedgehog signaling JBrowse link 10 102,502,801 102,633,535 RGD:8699517
G TERC telomerase RNA component JBrowse link 3 169,764,610 169,765,060 RGD:8699517
G TERT telomerase reverse transcriptase JBrowse link 5 1,253,148 1,295,068 RGD:8699517
G TINF2 TERF1 interacting nuclear factor 2 JBrowse link 14 24,239,640 24,242,674 RGD:8699517
G TREM2 triggering receptor expressed on myeloid cells 2 JBrowse link 6 41,158,508 41,163,116 RGD:8699517
G TREX1 three prime repair exonuclease 1 JBrowse link 3 48,465,830 48,467,645 RGD:8699517
G TSC1 TSC complex subunit 1 JBrowse link 9 132,891,349 132,945,269 RGD:8699517
G TSC2 TSC complex subunit 2 JBrowse link 16 2,047,804 2,089,491 RGD:8699517
G TYROBP transmembrane immune signaling adaptor TYROBP JBrowse link 19 35,904,403 35,908,295 RGD:8699517
G USB1 U6 snRNA biogenesis phosphodiesterase 1 JBrowse link 16 57,999,603 58,021,618 RGD:8699517
G USP18 ubiquitin specific peptidase 18 JBrowse link 22 18,149,855 18,177,397 RGD:8699517
G VPS33A VPS33A core subunit of CORVET and HOPS complexes JBrowse link 12 122,229,564 122,266,494 RGD:8699517
G WRAP53 WD repeat containing antisense to TP53 JBrowse link 17 7,686,071 7,703,502 RGD:8699517
G XPR1 xenotropic and polytropic retrovirus receptor 1 JBrowse link 1 180,632,022 180,890,279 RGD:8699517
G ZBTB20 zinc finger and BTB domain containing 20 JBrowse link 3 114,314,500 115,147,288 RGD:8699517
Basal ganglia calcification term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACVR1 activin A receptor type 1 JBrowse link 2 157,736,446 157,876,330 RGD:8699517
G CA2 carbonic anhydrase 2 JBrowse link 8 85,463,902 85,481,493 RGD:8699517
G CASR calcium sensing receptor JBrowse link 3 122,183,668 122,291,629 RGD:8699517
G CYP2U1 cytochrome P450 family 2 subfamily U member 1 JBrowse link 4 107,931,549 107,953,461 RGD:8699517
G DNM1L dynamin 1 like JBrowse link 12 32,679,200 32,745,650 RGD:8699517
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit JBrowse link 2 127,257,290 127,294,166 RGD:8699517
G ERCC6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 10 49,454,470 49,539,538 RGD:8699517
G FAM111A family with sequence similarity 111 member A JBrowse link 11 59,142,856 59,155,039 RGD:8699517
G GJA1 gap junction protein alpha 1 JBrowse link 6 121,435,646 121,449,727 RGD:8699517
G GNA11 G protein subunit alpha 11 JBrowse link 19 3,094,362 3,123,999 RGD:8699517
G GNAS GNAS complex locus JBrowse link 20 58,839,681 58,911,196 RGD:8699517
G IFIH1 interferon induced with helicase C domain 1 JBrowse link 2 162,267,074 162,318,684 RGD:8699517
G ISG15 ISG15 ubiquitin like modifier JBrowse link 1 1,013,497 1,014,540 RGD:8699517
G OPA1 OPA1 mitochondrial dynamin like GTPase JBrowse link 3 193,593,144 193,697,811 RGD:8699517
G PDGFB platelet derived growth factor subunit B JBrowse link 22 39,223,359 39,244,982 RGD:8699517
G PDGFRB platelet derived growth factor receptor beta JBrowse link 5 150,113,839 150,155,845 RGD:8699517
G PSMB8 proteasome 20S subunit beta 8 JBrowse link 6 32,840,717 32,844,679 RGD:8699517
G RNASEH2B ribonuclease H2 subunit B JBrowse link 13 50,909,678 50,970,462 RGD:8699517
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 JBrowse link 20 36,889,773 36,951,708 RGD:8699517
G SLC20A2 solute carrier family 20 member 2 JBrowse link 8 42,416,462 42,542,143 RGD:8699517
G SLC46A1 solute carrier family 46 member 1 JBrowse link 17 28,394,642 28,406,630 RGD:8699517
G TREX1 three prime repair exonuclease 1 JBrowse link 3 48,465,830 48,467,645 RGD:8699517
G TYROBP transmembrane immune signaling adaptor TYROBP JBrowse link 19 35,904,403 35,908,295 RGD:8699517
G XPR1 xenotropic and polytropic retrovirus receptor 1 JBrowse link 1 180,632,022 180,890,279 RGD:8699517
Bilateral intracranial calcifications term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ECM1 extracellular matrix protein 1 JBrowse link 1 150,508,109 150,513,789 RGD:8699517
Calcification of falx cerebri term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCC6 ATP binding cassette subfamily C member 6 JBrowse link 16 16,149,565 16,223,617 RGD:8699517
G COL11A1 collagen type XI alpha 1 chain JBrowse link 1 102,876,467 103,108,580 RGD:8699517
G DDR2 discoidin domain receptor tyrosine kinase 2 JBrowse link 1 162,630,863 162,787,405 RGD:8699517
G PTCH1 patched 1 JBrowse link 9 95,442,980 95,517,057 RGD:8699517
G SUFU SUFU negative regulator of hedgehog signaling JBrowse link 10 102,502,801 102,633,535 RGD:8699517
Choroid plexus calcification term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CTSC cathepsin C JBrowse link 11 88,293,592 88,337,736 RGD:8699517
G GNAS GNAS complex locus JBrowse link 20 58,839,681 58,911,196 RGD:8699517
Intracerebral periventricular calcifications term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CPT2 carnitine palmitoyltransferase 2 JBrowse link 1 53,196,824 53,214,197 RGD:8699517
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 JBrowse link 2 88,556,740 88,627,464 RGD:8699517
G SLC2A1 solute carrier family 2 member 1 JBrowse link 1 42,925,375 42,958,868 RGD:8699517
Meningeal calcification term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL11A1 collagen type XI alpha 1 chain JBrowse link 1 102,876,467 103,108,580 RGD:8699517
Subcortical white matter calcifications term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ERCC6 ERCC excision repair 6, chromatin remodeling factor JBrowse link 10 49,454,470 49,539,538 RGD:8699517

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 5964
    Phenotypic abnormality 5960
      Abnormality of the skeletal system 2680
        Ectopic calcification 193
          Cerebral calcification 119
            Basal ganglia calcification 24
            Bilateral intracranial calcifications 1
            Calcification of falx cerebri 5
            Choroid plexus calcification 2
            Congenital intracerebral calcification 0
            Diffuse cerebral calcification 0
            Intracerebral periventricular calcifications 3
            Meningeal calcification 1
            Midline brain calcifications 0
            Nonarteriosclerotic cerebral calcification 0
            Pituitary calcification 0
            Subcortical white matter calcifications 1
Path 2
Term Annotations click to browse term
  Human phenotype 5964
    Phenotypic abnormality 5960
      Abnormality of the nervous system 3284
        Abnormality of nervous system morphology 2489
          Morphological abnormality of the central nervous system 2292
            Abnormality of brain morphology 2055
              Abnormality of forebrain morphology 1555
                Abnormality of the cerebrum 1531
                  Cerebral calcification 119
                    Basal ganglia calcification 24
                    Bilateral intracranial calcifications 1
                    Calcification of falx cerebri 5
                    Choroid plexus calcification 2
                    Congenital intracerebral calcification 0
                    Diffuse cerebral calcification 0
                    Intracerebral periventricular calcifications 3
                    Meningeal calcification 1
                    Midline brain calcifications 0
                    Nonarteriosclerotic cerebral calcification 0
                    Pituitary calcification 0
                    Subcortical white matter calcifications 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.