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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:Ectopic calcification
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Accession:HP:0010766 term browser browse the term
Definition:Deposition of calcium salts in a tissue or location in which calcification does not normally occur.
Synonyms:xref: UMLS:C3806226



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Ectopic calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO ORPHA:51608 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
JBrowse link
G ATOH7 atonal bHLH transcription factor 7 IAGP HPO ORPHA:91495 NCBI chr10:68,230,595...68,232,113
Ensembl chr10:68,230,595...68,232,113
JBrowse link
G CTNNB1 catenin beta 1 IAGP HPO ORPHA:91414 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO MIM:615522 ORPHA:51608 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
JBrowse link
G FZD4 frizzled class receptor 4 IAGP HPO ORPHA:91495 NCBI chr11:86,945,679...86,955,395
Ensembl chr11:86,945,679...86,955,395
JBrowse link
G GNAS GNAS complex locus IAGP HPO ORPHA:2762 ORPHA:94089 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G LBR lamin B receptor IAGP DNA:mutations:cds:multiple HPO
RGD
PMID:21327084 MIM:215140, RGD:9588626 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:740 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
JBrowse link
G NDP norrin cystine knot growth factor NDP IAGP HPO ORPHA:91495 NCBI chr  X:43,948,776...43,973,390
Ensembl chr  X:43,948,776...43,973,395
JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP HPO ORPHA:436252 NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417
JBrowse link
G SLC34A2 solute carrier family 34 member 2 IAGP HPO ORPHA:60025 NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748
JBrowse link
G STX16 syntaxin 16 IAGP HPO ORPHA:94089 NCBI chr20:58,651,283...58,679,526
Ensembl chr20:58,651,272...58,679,526
JBrowse link
G TTC7A tetratricopeptide repeat domain 7A IAGP HPO ORPHA:436252 NCBI chr 2:46,915,866...47,076,123
Ensembl chr 2:46,915,869...47,076,137
JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO ORPHA:740 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
JBrowse link
Abdominal aortic calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO MIM:208000 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
JBrowse link
Abnormal calcification of the carpal bones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO ORPHA:51608 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP HPO MIM:271665 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO ORPHA:51608 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
JBrowse link
Adrenal calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO ORPHA:51608 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
JBrowse link
G CCM2 CCM2 scaffold protein IAGP HPO ORPHA:221061 NCBI chr 7:44,999,746...45,076,470
Ensembl chr 7:44,999,475...45,076,469
JBrowse link
G CYP11A1 cytochrome P450 family 11 subfamily A member 1 IAGP HPO ORPHA:289548 NCBI chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO ORPHA:51608 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
JBrowse link
G KRIT1 KRIT1 ankyrin repeat containing IAGP HPO ORPHA:221061 NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,197,498...92,246,166
JBrowse link
G LIPA lipase A, lysosomal acid type IAGP HPO MIM:278000 MIM:620151 ORPHA:75233 ORPHA:75234 NCBI chr10:89,213,572...89,251,775
Ensembl chr10:89,213,569...89,414,557
JBrowse link
G PDCD10 programmed cell death 10 IAGP HPO ORPHA:221061 NCBI chr 3:167,683,298...167,734,892
Ensembl chr 3:167,683,298...167,734,939
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO ORPHA:221061 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
Anterior rib punctate calcifications term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EBP EBP cholestenol delta-isomerase IAGP HPO ORPHA:35173 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716
JBrowse link
G LBR lamin B receptor IAGP HPO MIM:215140 ORPHA:1426 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
JBrowse link
Aortic arch calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO MIM:182250 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
JBrowse link
Aortic valve calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATA5 GATA binding protein 5 IAGP HPO ORPHA:402075 NCBI chr20:62,463,497...62,475,995
Ensembl chr20:62,463,497...62,475,995
JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO MIM:231005 ORPHA:2072 ORPHA:77261 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G HGD homogentisate 1,2-dioxygenase IAGP HPO MIM:203500 ORPHA:56 NCBI chr 3:120,628,172...120,682,239
Ensembl chr 3:120,628,172...120,682,269
JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO MIM:182250 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:740 ORPHA:79474 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
JBrowse link
G NKX2-5 NK2 homeobox 5 IAGP HPO ORPHA:402075 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311
JBrowse link
G NOTCH1 notch receptor 1 IAGP HPO MIM:109730 ORPHA:402075 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
JBrowse link
G RIGI RNA sensor RIG-I IAGP HPO MIM:616298 NCBI chr 9:32,455,302...32,526,196
Ensembl chr 9:32,455,302...32,526,348
JBrowse link
G SMAD6 SMAD family member 6 IAGP HPO ORPHA:402075 NCBI chr15:66,702,236...66,782,849
Ensembl chr15:66,702,236...66,782,849
JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO ORPHA:740 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
JBrowse link
Arterial calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO MIM:614473 ORPHA:51608 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP DNA:mutations:multiple HPO
RGD
PMID:20016754 ORPHA:51608, RGD:6906932 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
JBrowse link
G EPHX2 epoxide hydrolase 2 susceptibility IAGP DNA:SNPs, haplotypes:exon, intron:p.R287Q, IVS11-883C>G (rs751141, rs721619) RGD PMID:16545818 RGD:5688389 NCBI chr 8:27,491,143...27,548,626
Ensembl chr 8:27,490,781...27,545,564
JBrowse link
G NT5E 5'-nucleotidase ecto IAGP HPO ORPHA:289601 NCBI chr 6:85,450,083...85,495,784
Ensembl chr 6:85,449,584...85,495,791
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 MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 MIM:133540 MIM:214150 MIM: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 MIM: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 ESAM endothelial cell adhesion molecule IAGP HPO MIM:620371 NCBI chr11:124,753,126...124,762,290
Ensembl chr11:124,752,583...124,762,290
JBrowse link
G EXOSC2 exosome component 2 IAGP HPO MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 MIM:103580 MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 IAGP HPO MIM:618317 NCBI chr 9:34,366,666...34,376,898
Ensembl chr 9:34,366,666...34,376,898
JBrowse link
G NAA60 N-alpha-acetyltransferase 60, NatF catalytic subunit IAGP HPO MIM:620786 NCBI chr16:3,443,611...3,486,963
Ensembl chr16:3,443,649...3,486,953
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 MIM:213600 MIM: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 MIM:213600 MIM: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 MIM:256040 NCBI chr 6:32,840,717...32,844,679
Ensembl chr 6:32,840,717...32,844,679
JBrowse link
G PSMB9 proteasome 20S subunit beta 9 IAGP HPO MIM:620796 NCBI chr 6:32,854,192...32,859,851
Ensembl chr 6:32,844,136...32,860,734
JBrowse link
G PSMG2 proteasome assembly chaperone 2 IAGP HPO MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ECM1 extracellular matrix protein 1 IAGP HPO MIM:247100 NCBI chr 1:150,508,109...150,513,789
Ensembl chr 1:150,508,062...150,513,789
JBrowse link
Calcaneal epiphyseal stippling term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARSL arylsulfatase L IAGP HPO ORPHA:79345 NCBI chr  X:2,934,521...2,968,245
Ensembl chr  X:2,934,045...2,968,475
JBrowse link
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 IAGP HPO MIM:117650 NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853
JBrowse link
Calcific stippling term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EBP EBP cholestenol delta-isomerase IAGP HPO MIM:302960 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716
JBrowse link
G GNPAT glyceronephosphate O-acyltransferase IAGP HPO MIM:222765 NCBI chr 1:231,241,212...231,277,973
Ensembl chr 1:231,241,207...231,277,973
JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 IAGP HPO MIM:261515 NCBI chr 5:119,452,497...119,542,332
Ensembl chr 5:119,452,465...119,637,199
JBrowse link
Calcification of cartilage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKH ANKH inorganic pyrophosphate transport regulator IAGP HPO ORPHA:1416 NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778
JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP HPO MIM:271665 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
JBrowse link
G HGD homogentisate 1,2-dioxygenase IAGP HPO ORPHA:56 NCBI chr 3:120,628,172...120,682,239
Ensembl chr 3:120,628,172...120,682,269
JBrowse link
G MGP matrix Gla protein IAGP HPO ORPHA:85202 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857
JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b IAGP HPO ORPHA:1416 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885
JBrowse link
Calcification of falx cerebri term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO MIM: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 MIM: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 MIM: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 MIM: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 1:44,819,154...44,843,253
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP HPO MIM: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 MIM:603671 NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172
JBrowse link
Calcification of the aorta term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO ORPHA:51608 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
JBrowse link
G ABCG5 ATP binding cassette subfamily G member 5 IAGP HPO ORPHA:391665 NCBI chr 2:43,806,211...43,839,231
Ensembl chr 2:43,812,472...43,838,865
JBrowse link
G ABCG8 ATP binding cassette subfamily G member 8 IAGP HPO ORPHA:391665 NCBI chr 2:43,838,971...43,882,988
Ensembl chr 2:43,831,942...43,882,988
JBrowse link
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 APOB apolipoprotein B IAGP HPO ORPHA:391665 NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO ORPHA:51608 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO MIM:231005 ORPHA:2072 ORPHA:77261 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
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 LDLR low density lipoprotein receptor IAGP HPO ORPHA:391665 NCBI chr19:11,089,463...11,133,820
Ensembl chr19:11,089,418...11,133,820
JBrowse link
G LDLRAP1 low density lipoprotein receptor adaptor protein 1 IAGP HPO ORPHA:391665 NCBI chr 1:25,543,606...25,590,400
Ensembl chr 1:25,543,604...25,591,200
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 PCSK9 proprotein convertase subtilisin/kexin type 9 IAGP HPO ORPHA:391665 NCBI chr 1:55,039,548...55,064,852
Ensembl chr 1:55,039,445...55,064,852
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 SLC34A2 solute carrier family 34 member 2 IAGP HPO ORPHA:60025 NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748
JBrowse link
G SMAD6 SMAD family member 6 IAGP HPO MIM:614823 NCBI chr15:66,702,236...66,782,849
Ensembl chr15:66,702,236...66,782,849
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
Calcification of the auricular cartilage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO ORPHA:51608 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO ORPHA:51608 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
JBrowse link
G MGP matrix Gla protein IAGP HPO MIM:245150 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857
JBrowse link
G ZBTB20 zinc finger and BTB domain containing 20 IAGP HPO MIM:259050 ORPHA:3042 NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,292
JBrowse link
Calcification of the small brain vessels term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDGFB platelet derived growth factor subunit B IAGP HPO MIM:213600 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 MIM:213600 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
JBrowse link
G SLC20A2 solute carrier family 20 member 2 IAGP HPO MIM:213600 NCBI chr 8:42,416,475...42,541,954
Ensembl chr 8:42,416,475...42,541,926
JBrowse link
Calcinosis cutis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP DNA:nonsense mutation:exon:p.Q378X (1132C>T) RGD PMID:11692167 RGD:11038785 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
JBrowse link
G AGXT alanine--glyoxylate aminotransferase IAGP HPO MIM:259900 NCBI chr 2:240,868,824...240,880,500
Ensembl chr 2:240,868,824...240,880,502
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO MIM:615522 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
JBrowse link
G LBR lamin B receptor IAGP HPO MIM:613471 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
JBrowse link
G SAMD9 sterile alpha motif domain containing 9 IAGP HPO MIM:610455 NCBI chr 7:93,099,518...93,117,979
Ensembl chr 7:93,099,513...93,118,023
JBrowse link
Cardiovascular calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B2M beta-2-microglobulin IAGP HPO ORPHA:314652 NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851
JBrowse link
Carotid artery calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO MIM:208000 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
JBrowse link
Cerebellar calcifications term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CMPK2 cytidine/uridine monophosphate kinase 2 IAGP HPO MIM:621018 NCBI chr 2:6,840,553...6,866,635
Ensembl chr 2:6,840,570...6,866,635
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO MIM:133540 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
JBrowse link
G JAM2 junctional adhesion molecule 2 IAGP HPO MIM:618824 NCBI chr21:25,639,258...25,717,562
Ensembl chr21:25,639,258...25,717,562
JBrowse link
G NAA60 N-alpha-acetyltransferase 60, NatF catalytic subunit IAGP HPO MIM:620786 NCBI chr16:3,443,611...3,486,963
Ensembl chr16:3,443,649...3,486,953
JBrowse link
G PDGFB platelet derived growth factor subunit B IAGP HPO MIM:615483 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
JBrowse link
G RBBP8 RB binding protein 8, endonuclease IAGP HPO MIM:606744 NCBI chr18:22,914,139...23,026,486
Ensembl chr18:22,798,261...23,026,488
JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO MIM:225750 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
JBrowse link
Cerebellar dentate nucleus calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO 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:90324 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073
JBrowse link
G MYORG myogenesis regulating glycosidase IAGP HPO MIM:618317 NCBI chr 9:34,366,666...34,376,898
Ensembl chr 9:34,366,666...34,376,898
JBrowse link
G PDGFB platelet derived growth factor subunit B IAGP HPO MIM:213600 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 MIM:213600 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
JBrowse link
G SLC20A2 solute carrier family 20 member 2 IAGP HPO MIM:213600 NCBI chr 8:42,416,475...42,541,954
Ensembl chr 8:42,416,475...42,541,926
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
Cerebral calcification term browser
Symbol Object Name Qualifiers 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 MIM: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 MIM: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 MIM: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 MIM: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...110,307,202
JBrowse link
G COLGALT1 collagen beta(1-O)galactosyltransferase 1 IAGP HPO MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 ESAM endothelial cell adhesion molecule IAGP HPO MIM:620371 NCBI chr11:124,753,126...124,762,290
Ensembl chr11:124,752,583...124,762,290
JBrowse link
G FAM20C FAM20C golgi associated secretory pathway kinase IAGP HPO MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 MIM: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...44,218,236
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 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 MIM: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 MIM:617241 NCBI chr15:29,264,989...29,269,822
Ensembl chr15:29,264,989...29,269,822
JBrowse link
G OCLN occludin IAGP ClinVar Annotator: match by term: Cerebral calcification ClinVar
HPO
PMID:25558065 PMID:25741868 MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 1:44,819,154...44,843,253
JBrowse link
G PTH parathyroid hormone IAGP HPO MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 MIM: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 SLC19A1 solute carrier family 19 member 1 IAGP HPO MIM:620603 NCBI chr21:45,502,517...45,563,025
Ensembl chr21:45,493,572...45,573,365
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 MIM: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 BAF chromatin remodeling complex subunit B1 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 MIM: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 MIM: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 MIM:268130 MIM: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 MIM: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 MIM: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 MIM:617397 NCBI chr22:18,150,170...18,177,397
Ensembl chr22:18,149,843...18,177,397
JBrowse link
G VPS33A VPS33A core subunit of CORVET and HOPS complexes IAGP HPO MIM:617303 ORPHA:505248 NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,502
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 MIM: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 MIM: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 MIM:619644 NCBI chr20:49,245,900...49,278,057
Ensembl chr20:49,237,946...49,278,426
JBrowse link
Chondrocalcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALPL alkaline phosphatase, biomineralization associated IAGP HPO MIM:146300 NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410
JBrowse link
G ANKH ANKH inorganic pyrophosphate transport regulator IAGP ClinVar Annotator: match by term: Chondrocalcinosis ClinVar
HPO
PMID:25741868 ORPHA:1416 NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778
JBrowse link
G AP2S1 adaptor related protein complex 2 subunit sigma 1 IAGP HPO MIM:600740 NCBI chr19:46,838,167...46,850,846
Ensembl chr19:46,838,136...46,850,846
JBrowse link
G ATP7A ATPase copper transporting alpha IAGP HPO ORPHA:565 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395
JBrowse link
G ATP7B ATPase copper transporting beta IAGP HPO MIM:277900 NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125
JBrowse link
G CDC73 cell division cycle 73 IAGP HPO ORPHA:143 ORPHA:99879 ORPHA:99880 NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,983...193,254,815
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 FXYD2 FXYD domain containing ion transport regulator 2 IAGP HPO MIM:154020 NCBI chr11:117,820,057...117,828,089
Ensembl chr11:117,800,844...117,828,698
JBrowse link
G GCM2 glial cells missing transcription factor 2 IAGP HPO ORPHA:99879 NCBI chr 6:10,873,223...10,882,041
Ensembl chr 6:10,873,223...10,882,041
JBrowse link
G GNA11 G protein subunit alpha 11 IAGP HPO MIM:145981 NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999
JBrowse link
G HYAL1 hyaluronidase 1 IAGP HPO MIM:601492 NCBI chr 3:50,299,893...50,312,381
Ensembl chr 3:50,299,890...50,312,381
JBrowse link
G KCNJ1 potassium inwardly rectifying channel subfamily J member 1 IAGP HPO MIM:241200 NCBI chr11:128,838,020...128,867,296
Ensembl chr11:128,836,315...128,867,373
JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:79474 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
JBrowse link
G LOC129993725 ATAC-STARR-seq lymphoblastoid silent region 15944 IAGP ClinVar Annotator: match by term: Chondrocalcinosis ClinVar NCBI chr 5:14,871,518...14,871,607 JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP HPO ORPHA:329967 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
JBrowse link
G MEN1 menin 1 IAGP HPO ORPHA:99879 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
G NOTCH3 notch receptor 3 IAGP HPO ORPHA:2591 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
JBrowse link
G OTULIN OTU deubiquitinase with linear linkage specificity IAGP ClinVar Annotator: match by term: Chondrocalcinosis ClinVar PMID:25741868 NCBI chr 5:14,664,718...14,716,525
Ensembl chr 5:14,664,664...14,716,529
JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP HPO ORPHA:2591 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
JBrowse link
G SLC12A1 solute carrier family 12 member 1 IAGP HPO MIM:601678 NCBI chr15:48,206,302...48,304,078
Ensembl chr15:48,178,438...48,304,078
JBrowse link
G SLC12A3 solute carrier family 12 member 3 IAGP HPO MIM:263800 ORPHA:358 NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850
JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b IAGP HPO ORPHA:1416 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IAGP HPO ORPHA:329967 NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
JBrowse link
G WRN WRN RecQ like helicase IAGP HPO ORPHA:902 NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138
JBrowse link
Choroid plexus calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTSC cathepsin C IAGP HPO MIM:245000 NCBI chr11:88,293,592...88,337,736
Ensembl chr11:88,265,069...88,359,684
JBrowse link
G GNAS GNAS complex locus IAGP HPO MIM:103580 MIM:612462 ORPHA:79443 ORPHA:79444 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
Coronary artery calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO MIM:614473 ORPHA:51608 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
JBrowse link
G CCR2 C-C motif chemokine receptor 2 susceptibility IAGP DNA:SNP:cds:p.V64I(human) RGD PMID:12426226 RGD:1581178 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO MIM:208000 ORPHA:51608 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
JBrowse link
G HGD homogentisate 1,2-dioxygenase IAGP HPO MIM:203500 ORPHA:56 NCBI chr 3:120,628,172...120,682,239
Ensembl chr 3:120,628,172...120,682,269
JBrowse link
G NT5E 5'-nucleotidase ecto IAGP HPO MIM:211800 ORPHA:289601 NCBI chr 6:85,450,083...85,495,784
Ensembl chr 6:85,449,584...85,495,791
JBrowse link
G PHACTR1 phosphatase and actin regulator 1 IAGP DNA:SNP:intron:g.13011943A>G (rs9349379)
associated with type 2 diabetes mellitus;DNA:SNPs:intron: (rs9369640, rs9349379)
DNA:SNP:intron: (rs12526453)
RGD PMID:23394302 PMID:34241534 PMID:26789557 PMID:23561647 RGD:11058683, RGD:401901247, RGD:11054804, RGD:11057923 NCBI chr 6:12,716,767...13,287,837
Ensembl chr 6:12,716,312...13,290,446
JBrowse link
Costal cartilage calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LBR lamin B receptor IAGP HPO MIM:215140 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
JBrowse link
G MGP matrix Gla protein IAGP HPO MIM:245150 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857
JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO MIM:222600 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
JBrowse link
Epiphyseal stippling term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGPS alkylglycerone phosphate synthase IAGP HPO MIM:600121 NCBI chr 2:177,392,773...177,543,834
Ensembl chr 2:177,392,746...177,567,024
JBrowse link
G ARSL arylsulfatase L IAGP HPO MIM:302950 ORPHA:79345 NCBI chr  X:2,934,521...2,968,245
Ensembl chr  X:2,934,045...2,968,475
JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP HPO MIM:271665 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP HPO MIM:270400 NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868
JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP HPO ORPHA:96334 NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224
JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP HPO MIM:302960 ORPHA:35173 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716
JBrowse link
G GGCX gamma-glutamyl carboxylase IAGP HPO MIM:277450 NCBI chr 2:85,544,720...85,561,493
Ensembl chr 2:85,544,720...85,561,532
JBrowse link
G GNPAT glyceronephosphate O-acyltransferase IAGP HPO MIM:222765 NCBI chr 1:231,241,212...231,277,973
Ensembl chr 1:231,241,207...231,277,973
JBrowse link
G GUSB glucuronidase beta IAGP HPO ORPHA:584 NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,684...65,982,215
JBrowse link
G LBR lamin B receptor IAGP HPO MIM:215140 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
JBrowse link
G MEG3 maternally expressed 3 IAGP HPO ORPHA:96334 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,206...100,861,031
JBrowse link
G MGP matrix Gla protein IAGP HPO MIM:245150 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857
JBrowse link
G NEU1 neuraminidase 1 IAGP HPO MIM:256550 NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,063...31,862,905
JBrowse link
G NSDHL NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL IAGP HPO MIM:308050 NCBI chr  X:152,831,063...152,869,729
Ensembl chr  X:152,830,967...152,869,729
JBrowse link
G PDE4D phosphodiesterase 4D IAGP HPO ORPHA:950 NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120
JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP HPO MIM:214100 MIM:601539 ORPHA:912 NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520
JBrowse link
G PEX10 peroxisomal biogenesis factor 10 IAGP HPO MIM:614870 ORPHA:912 NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797
JBrowse link
G PEX11B peroxisomal biogenesis factor 11 beta IAGP HPO ORPHA:912 NCBI chr 1:145,911,348...145,918,717
Ensembl chr 1:145,911,350...145,918,717
JBrowse link
G PEX12 peroxisomal biogenesis factor 12 IAGP HPO MIM:614859 ORPHA:912 NCBI chr17:35,574,795...35,578,571
Ensembl chr17:35,574,795...35,578,863
JBrowse link
G PEX13 peroxisomal biogenesis factor 13 IAGP HPO ORPHA:912 NCBI chr 2:61,017,720...61,051,990
Ensembl chr 2:61,017,225...61,051,990
JBrowse link
G PEX14 peroxisomal biogenesis factor 14 IAGP HPO ORPHA:912 NCBI chr 1:10,474,950...10,630,758
Ensembl chr 1:10,472,288...10,630,758
JBrowse link
G PEX16 peroxisomal biogenesis factor 16 IAGP HPO MIM:614876 ORPHA:912 NCBI chr11:45,909,663...45,918,822
Ensembl chr11:45,909,663...45,918,812
JBrowse link
G PEX19 peroxisomal biogenesis factor 19 IAGP HPO ORPHA:912 NCBI chr 1:160,276,807...160,285,151
Ensembl chr 1:160,276,807...160,286,348
JBrowse link
G PEX2 peroxisomal biogenesis factor 2 IAGP HPO MIM:614866 ORPHA:912 NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044
JBrowse link
G PEX26 peroxisomal biogenesis factor 26 IAGP HPO MIM:614872 ORPHA:912 NCBI chr22:18,077,990...18,105,396
Ensembl chr22:18,077,923...18,105,396
JBrowse link
G PEX3 peroxisomal biogenesis factor 3 IAGP HPO MIM:614882 ORPHA:912 NCBI chr 6:143,450,805...143,490,616
Ensembl chr 6:143,450,805...143,490,616
JBrowse link
G PEX5 peroxisomal biogenesis factor 5 IAGP HPO ORPHA:912 NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574
JBrowse link
G PEX6 peroxisomal biogenesis factor 6 IAGP HPO MIM:614862 ORPHA:912 NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181
JBrowse link
G PEX7 peroxisomal biogenesis factor 7 IAGP HPO MIM:215100 NCBI chr 6:136,822,592...136,913,934
Ensembl chr 6:136,822,564...136,913,934
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO MIM:101800 ORPHA:950 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP HPO ORPHA:96334 NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722
JBrowse link
G THRB thyroid hormone receptor beta IAGP HPO MIM:274300 NCBI chr 3:24,117,153...24,495,708
Ensembl chr 3:24,117,153...24,495,756
JBrowse link
G VPS35L VPS35 endosomal protein sorting factor like IAGP HPO MIM:619135 NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793
JBrowse link
Epiphyseal stippling of the humerus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNB filamin B IAGP HPO ORPHA:56305 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
JBrowse link
Epiphyseal stippling of toe phalanges term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARSL arylsulfatase L IAGP HPO ORPHA:79345 NCBI chr  X:2,934,521...2,968,245
Ensembl chr  X:2,934,045...2,968,475
JBrowse link
Femoral arterial calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NT5E 5'-nucleotidase ecto IAGP HPO MIM:211800 NCBI chr 6:85,450,083...85,495,784
Ensembl chr 6:85,449,584...85,495,791
JBrowse link
Generalized arterial calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO MIM:208000 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
JBrowse link
Gonadal calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC34A2 solute carrier family 34 member 2 IAGP HPO ORPHA:60025 NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748
JBrowse link
Hepatic calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO ORPHA:51608 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP HPO MIM:608836 ORPHA:228308 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO ORPHA:51608 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
JBrowse link
G LBR lamin B receptor IAGP HPO MIM:215140 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
JBrowse link
G LYN LYN proto-oncogene, Src family tyrosine kinase IAGP HPO MIM:620376 NCBI chr 8:55,879,835...56,014,169
Ensembl chr 8:55,879,835...56,014,169
JBrowse link
Iliac arterial calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NT5E 5'-nucleotidase ecto IAGP HPO MIM:211800 NCBI chr 6:85,450,083...85,495,784
Ensembl chr 6:85,449,584...85,495,791
JBrowse link
Intervertebral disk calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKH ANKH inorganic pyrophosphate transport regulator IAGP HPO MIM:123000 NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778
JBrowse link
G COL9A1 collagen type IX alpha 1 chain IAGP HPO MIM:614135 NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084
JBrowse link
G HGD homogentisate 1,2-dioxygenase IAGP HPO ORPHA:56 NCBI chr 3:120,628,172...120,682,239
Ensembl chr 3:120,628,172...120,682,269
JBrowse link
G NT5E 5'-nucleotidase ecto IAGP HPO MIM:211800 NCBI chr 6:85,450,083...85,495,784
Ensembl chr 6:85,449,584...85,495,791
JBrowse link
Intraalveolar nodular calcifications term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC34A2 solute carrier family 34 member 2 IAGP HPO MIM:265100 NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748
JBrowse link
Intracerebral periventricular calcifications term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CMPK2 cytidine/uridine monophosphate kinase 2 IAGP HPO MIM:621018 NCBI chr 2:6,840,553...6,866,635
Ensembl chr 2:6,840,570...6,866,635
JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP HPO MIM:608836 ORPHA:228308 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
JBrowse link
G ESAM endothelial cell adhesion molecule IAGP HPO MIM:620371 NCBI chr11:124,753,126...124,762,290
Ensembl chr11:124,752,583...124,762,290
JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO MIM:615846 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
JBrowse link
G NAA60 N-alpha-acetyltransferase 60, NatF catalytic subunit IAGP HPO MIM:620786 NCBI chr16:3,443,611...3,486,963
Ensembl chr16:3,443,649...3,486,953
JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 IAGP HPO MIM: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 MIM: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 MIM:225750 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
JBrowse link
Laryngeal calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARSL arylsulfatase L IAGP HPO ORPHA:79345 NCBI chr  X:2,934,521...2,968,245
Ensembl chr  X:2,934,045...2,968,475
JBrowse link
G LBR lamin B receptor IAGP HPO MIM:215140 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO MIM:215045 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799
JBrowse link
Medial calcification of large arteries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO MIM:177850 ORPHA:51608 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO ORPHA:51608 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
JBrowse link
G STAT1 signal transducer and activator of transcription 1 IAGP HPO ORPHA:391487 NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960
JBrowse link
Medial calcification of medium-sized arteries term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO MIM:177850 ORPHA:51608 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO ORPHA:51608 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
JBrowse link
Meningeal calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A1 collagen type XI alpha 1 chain IAGP HPO MIM:154780 NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872
JBrowse link
Mitral annular calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBN1 fibrillin 1 IAGP HPO MIM:154700 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
JBrowse link
Mitral valve calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GBA1 glucosylceramidase beta 1 IAGP HPO MIM:231005 ORPHA:2072 ORPHA:77261 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G HGD homogentisate 1,2-dioxygenase IAGP HPO MIM:203500 ORPHA:56 NCBI chr 3:120,628,172...120,682,239
Ensembl chr 3:120,628,172...120,682,269
JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO MIM:182250 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:363618 ORPHA:740 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
JBrowse link
G MTX2 metaxin 2 IAGP HPO MIM:619127 NCBI chr 2:176,269,442...176,338,025
Ensembl chr 2:176,269,395...176,338,025
JBrowse link
G SLC34A2 solute carrier family 34 member 2 IAGP HPO ORPHA:60025 NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748
JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO ORPHA:740 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
JBrowse link
Myocardial calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO ORPHA:51608 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO ORPHA:51608 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
JBrowse link
Neonatal epiphyseal stippling term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EBP EBP cholestenol delta-isomerase IAGP HPO ORPHA:35173 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO MIM:101800 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
Pancreatic calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO ORPHA:51608 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
JBrowse link
G CASR calcium sensing receptor IAGP HPO ORPHA:676 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629
JBrowse link
G CFTR CF transmembrane conductance regulator IAGP HPO MIM:167800 ORPHA:676 NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
JBrowse link
G CPA1 carboxypeptidase A1 IAGP HPO ORPHA:676 NCBI chr 7:130,380,494...130,388,108
Ensembl chr 7:130,380,339...130,388,114
JBrowse link
G CTRC chymotrypsin C IAGP HPO MIM:167800 ORPHA:103918 ORPHA:676 NCBI chr 1:15,438,443...15,449,242
Ensembl chr 1:15,438,442...15,449,242
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO ORPHA:51608 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
JBrowse link
G PRSS1 serine protease 1 IAGP HPO MIM:167800 ORPHA:676 NCBI chr 7:142,749,472...142,753,072
Ensembl chr 7:142,749,468...142,753,072
JBrowse link
G PRSS2 serine protease 2 IAGP HPO MIM:167800 ORPHA:676 NCBI chr 7:142,770,970...142,774,560
Ensembl chr 7:142,760,398...142,774,564
JBrowse link
G SPINK1 serine peptidase inhibitor Kazal type 1 IAGP HPO MIM:167800 MIM:608189 ORPHA:103918 ORPHA:676 NCBI chr 5:147,824,582...147,839,196
Ensembl chr 5:147,824,572...147,831,671
JBrowse link
G TRPV6 transient receptor potential cation channel subfamily V member 6 IAGP HPO ORPHA:676 NCBI chr 7:142,871,208...142,885,745
Ensembl chr 7:142,871,208...142,885,745
JBrowse link
Periarticular calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC6 ATP binding cassette subfamily C member 6 IAGP HPO ORPHA:51608 NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
JBrowse link
G CCN6 cellular communication network factor 6 IAGP HPO ORPHA:1159 NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 IAGP HPO MIM:208000 ORPHA:51608 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
JBrowse link
G NT5E 5'-nucleotidase ecto IAGP HPO MIM:211800 NCBI chr 6:85,450,083...85,495,784
Ensembl chr 6:85,449,584...85,495,791
JBrowse link
Polyarticular chondrocalcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKH ANKH inorganic pyrophosphate transport regulator IAGP HPO MIM:118600 MIM:123000 NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778
JBrowse link
Popcorn calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A1 collagen type I alpha 1 chain IAGP HPO MIM:166220 MIM:259420 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP HPO MIM:166220 MIM:259420 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
JBrowse link
G P4HB prolyl 4-hydroxylase subunit beta IAGP HPO MIM:112240 NCBI chr17:81,843,166...81,860,535
Ensembl chr17:81,843,159...81,860,856
JBrowse link
Progressive calcification of costochondral cartilage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP HPO MIM:271665 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
JBrowse link
Retinal calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAM111A FAM111 trypsin like peptidase A IAGP HPO MIM:127000 ORPHA:93325 NCBI chr11:59,142,856...59,155,039
Ensembl chr11:59,142,748...59,155,039
JBrowse link
G LRP5 LDL receptor related protein 5 IAGP HPO MIM:259770 NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275
JBrowse link
G RB1 RB transcriptional corepressor 1 IAGP HPO MIM:180200 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
JBrowse link
Sclerotic foci within carpal bones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LEMD3 LEM domain containing 3 IAGP HPO ORPHA:166119 NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355
JBrowse link
Sternal punctate calcifications term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LBR lamin B receptor IAGP HPO MIM:215140 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
JBrowse link
Stippled calcification in carpal bones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EBP EBP cholestenol delta-isomerase IAGP HPO MIM:302960 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716
JBrowse link
G SLC34A2 solute carrier family 34 member 2 IAGP HPO ORPHA:60025 NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748
JBrowse link
Stippled chondral calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PEX2 peroxisomal biogenesis factor 2 IAGP HPO MIM:614866 NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044
JBrowse link
G PEX5 peroxisomal biogenesis factor 5 IAGP HPO MIM:214110 NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574
JBrowse link
Stippling of the epiphyses of the distal phalanges of the hand term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARSL arylsulfatase L IAGP HPO ORPHA:79345 NCBI chr  X:2,934,521...2,968,245
Ensembl chr  X:2,934,045...2,968,475
JBrowse link
Stippling of the epiphysis of the distal phalanx of the thumb term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR1B bone morphogenetic protein receptor type 1B IAGP HPO ORPHA:93384 NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO ORPHA:93384 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
Subcortical white matter calcifications term browser
Symbol Object Name Qualifiers 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 MIM: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 NAA60 N-alpha-acetyltransferase 60, NatF catalytic subunit IAGP HPO MIM:620786 NCBI chr16:3,443,611...3,486,963
Ensembl chr16:3,443,649...3,486,953
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
Subcutaneous calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF23 fibroblast growth factor 23 IAGP HPO MIM:617993 NCBI chr12:4,368,227...4,379,712
Ensembl chr12:4,368,227...4,379,712
JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:79474 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
JBrowse link
G PSMC3 proteasome 26S subunit, ATPase 3 IAGP HPO MIM:619354 NCBI chr11:47,418,775...47,426,439
Ensembl chr11:47,418,769...47,426,473
JBrowse link
G WRN WRN RecQ like helicase IAGP HPO MIM:277700 ORPHA:902 NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138
JBrowse link
Tarsal stippling term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EBP EBP cholestenol delta-isomerase IAGP HPO MIM:302960 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716
JBrowse link
Temporal lobe calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ECM1 extracellular matrix protein 1 IAGP HPO MIM:247100 NCBI chr 1:150,508,109...150,513,789
Ensembl chr 1:150,508,062...150,513,789
JBrowse link
Thoracic aorta calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATA5 GATA binding protein 5 IAGP HPO ORPHA:402075 NCBI chr20:62,463,497...62,475,995
Ensembl chr20:62,463,497...62,475,995
JBrowse link
G NKX2-5 NK2 homeobox 5 IAGP HPO ORPHA:402075 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311
JBrowse link
G NOTCH1 notch receptor 1 IAGP HPO ORPHA:402075 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
JBrowse link
G SMAD6 SMAD family member 6 IAGP HPO ORPHA:402075 NCBI chr15:66,702,236...66,782,849
Ensembl chr15:66,702,236...66,782,849
JBrowse link
Tibial arterial calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NT5E 5'-nucleotidase ecto IAGP HPO MIM:211800 NCBI chr 6:85,450,083...85,495,784
Ensembl chr 6:85,449,584...85,495,791
JBrowse link
Tracheal calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARSL arylsulfatase L IAGP HPO ORPHA:79345 NCBI chr  X:2,934,521...2,968,245
Ensembl chr  X:2,934,045...2,968,475
JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 IAGP HPO MIM:271665 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP HPO MIM:302960 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716
JBrowse link
G LBR lamin B receptor IAGP HPO MIM:215140 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
JBrowse link
G MGP matrix Gla protein IAGP HPO MIM:245150 NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857
JBrowse link
Vascular calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO 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:90324 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073
JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 IAGP HPO MIM:211900 NCBI chr 2:165,747,588...165,794,692
Ensembl chr 2:165,747,588...165,846,201
JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO MIM:231000 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 87531
    Phenotypic abnormality 87110
      Abnormality of the musculoskeletal system 11664
        Abnormality of the skeletal system 10410
          Ectopic calcification 692
            Abnormal calcification of the carpal bones + 6
            Adrenal calcification 8
            Calcific stippling + 5
            Calcification of cartilage + 12
            Calcification of muscles 0
            Calcification of ribs + 2
            Calcinosis cutis 5
            Cardiovascular calcification + 469
            Cerebellar calcifications + 12
            Chondrocalcinosis + 24
            Epiphyseal stippling + 40
            Gingival calcification 0
            Gonadal calcification 1
            Hepatic calcification 5
            Intervertebral disk calcification 4
            Intraalveolar nodular calcifications 1
            Intracranial calcification + 156
            Laryngeal calcification 3
            Pancreatic calcification 10
            Periarticular calcification 4
            Retinal calcification 3
            Sternal punctate calcifications 1
            Subcutaneous calcification 4
            Tarsal stippling 1
            Tracheal calcification 5
paths to the root