Term: | Ectopic calcification |
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Accession: | HP:0010766
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browse the term
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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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ABCC6 |
ATP binding cassette subfamily C member 6 |
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IAGP |
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HPO |
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ORPHA:51608 |
NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
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ATOH7 |
atonal bHLH transcription factor 7 |
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IAGP |
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HPO |
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ORPHA:91495 |
NCBI chr10:68,230,595...68,232,113
Ensembl chr10:68,230,595...68,232,113
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CTNNB1 |
catenin beta 1 |
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IAGP |
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HPO |
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ORPHA:91414 |
NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
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ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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IAGP |
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HPO |
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MIM:615522 ORPHA:51608 |
NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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FZD4 |
frizzled class receptor 4 |
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IAGP |
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HPO |
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ORPHA:91495 |
NCBI chr11:86,945,679...86,955,395
Ensembl chr11:86,945,679...86,955,395
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GNAS |
GNAS complex locus |
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IAGP |
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HPO |
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ORPHA:2762 ORPHA:94089 |
NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
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LBR |
lamin B receptor |
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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
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LMNA |
lamin A/C |
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IAGP |
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HPO |
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ORPHA:740 |
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
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NDP |
norrin cystine knot growth factor NDP |
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IAGP |
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HPO |
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ORPHA:91495 |
NCBI chr X:43,948,776...43,973,390
Ensembl chr X:43,948,776...43,973,395
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PI4KA |
phosphatidylinositol 4-kinase alpha |
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IAGP |
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HPO |
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ORPHA:436252 |
NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417
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SLC34A2 |
solute carrier family 34 member 2 |
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IAGP |
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HPO |
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ORPHA:60025 |
NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748
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STX16 |
syntaxin 16 |
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IAGP |
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HPO |
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ORPHA:94089 |
NCBI chr20:58,651,283...58,679,526
Ensembl chr20:58,651,272...58,679,526
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TTC7A |
tetratricopeptide repeat domain 7A |
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IAGP |
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HPO |
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ORPHA:436252 |
NCBI chr 2:46,915,866...47,076,123
Ensembl chr 2:46,915,869...47,076,137
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ZMPSTE24 |
zinc metallopeptidase STE24 |
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IAGP |
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HPO |
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ORPHA:740 |
NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
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ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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IAGP |
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HPO |
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MIM:208000 |
NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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ABCC6 |
ATP binding cassette subfamily C member 6 |
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IAGP |
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HPO |
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ORPHA:51608 |
NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
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DDR2 |
discoidin domain receptor tyrosine kinase 2 |
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IAGP |
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HPO |
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MIM:271665 |
NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
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ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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IAGP |
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HPO |
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ORPHA:51608 |
NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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ABCC6 |
ATP binding cassette subfamily C member 6 |
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IAGP |
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HPO |
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ORPHA:51608 |
NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
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CCM2 |
CCM2 scaffold protein |
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IAGP |
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HPO |
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ORPHA:221061 |
NCBI chr 7:44,999,746...45,076,470
Ensembl chr 7:44,999,475...45,076,469
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CYP11A1 |
cytochrome P450 family 11 subfamily A member 1 |
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IAGP |
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HPO |
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ORPHA:289548 |
NCBI chr15:74,337,762...74,367,646
Ensembl chr15:74,337,759...74,367,646
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ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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IAGP |
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HPO |
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ORPHA:51608 |
NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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KRIT1 |
KRIT1 ankyrin repeat containing |
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IAGP |
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HPO |
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ORPHA:221061 |
NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,197,498...92,246,166
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LIPA |
lipase A, lysosomal acid type |
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IAGP |
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HPO |
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MIM:278000 MIM:620151 ORPHA:75233 ORPHA:75234 |
NCBI chr10:89,213,572...89,251,775
Ensembl chr10:89,213,569...89,414,557
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PDCD10 |
programmed cell death 10 |
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IAGP |
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HPO |
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ORPHA:221061 |
NCBI chr 3:167,683,298...167,734,892
Ensembl chr 3:167,683,298...167,734,939
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PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
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IAGP |
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HPO |
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ORPHA:221061 |
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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EBP |
EBP cholestenol delta-isomerase |
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IAGP |
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HPO |
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ORPHA:35173 |
NCBI chr X:48,521,808...48,528,716
Ensembl chr X:48,521,799...48,528,716
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LBR |
lamin B receptor |
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IAGP |
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HPO |
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MIM:215140 ORPHA:1426 |
NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
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IFIH1 |
interferon induced with helicase C domain 1 |
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IAGP |
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HPO |
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MIM:182250 |
NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
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GATA5 |
GATA binding protein 5 |
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IAGP |
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HPO |
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ORPHA:402075 |
NCBI chr20:62,463,497...62,475,995
Ensembl chr20:62,463,497...62,475,995
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GBA1 |
glucosylceramidase beta 1 |
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IAGP |
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HPO |
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MIM:231005 ORPHA:2072 ORPHA:77261 |
NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
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HGD |
homogentisate 1,2-dioxygenase |
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IAGP |
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HPO |
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MIM:203500 ORPHA:56 |
NCBI chr 3:120,628,172...120,682,239
Ensembl chr 3:120,628,172...120,682,269
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IFIH1 |
interferon induced with helicase C domain 1 |
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IAGP |
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HPO |
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MIM:182250 |
NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
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LMNA |
lamin A/C |
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IAGP |
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HPO |
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ORPHA:740 ORPHA:79474 |
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
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NKX2-5 |
NK2 homeobox 5 |
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IAGP |
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HPO |
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ORPHA:402075 |
NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311
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NOTCH1 |
notch receptor 1 |
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IAGP |
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HPO |
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MIM:109730 ORPHA:402075 |
NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
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RIGI |
RNA sensor RIG-I |
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IAGP |
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HPO |
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MIM:616298 |
NCBI chr 9:32,455,302...32,526,196
Ensembl chr 9:32,455,302...32,526,348
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SMAD6 |
SMAD family member 6 |
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IAGP |
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HPO |
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ORPHA:402075 |
NCBI chr15:66,702,236...66,782,849
Ensembl chr15:66,702,236...66,782,849
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ZMPSTE24 |
zinc metallopeptidase STE24 |
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IAGP |
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HPO |
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ORPHA:740 |
NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
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ABCC6 |
ATP binding cassette subfamily C member 6 |
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IAGP |
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HPO |
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MIM:614473 ORPHA:51608 |
NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
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ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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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
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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
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NT5E |
5'-nucleotidase ecto |
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IAGP |
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HPO |
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ORPHA:289601 |
NCBI chr 6:85,450,083...85,495,784
Ensembl chr 6:85,449,584...85,495,791
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ACVR1 |
activin A receptor type 1 |
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IAGP |
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HPO |
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MIM:135100 |
NCBI chr 2:157,736,446...157,876,330
Ensembl chr 2:157,736,251...157,876,330
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AP1S2 |
adaptor related protein complex 1 subunit sigma 2 |
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IAGP |
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HPO |
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MIM:304340 |
NCBI chr X:15,825,806...15,854,813
Ensembl chr X:15,825,806...15,854,931
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CA2 |
carbonic anhydrase 2 |
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IAGP |
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HPO |
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MIM:259730 ORPHA:2785 |
NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493
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CASR |
calcium sensing receptor |
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IAGP |
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HPO |
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MIM:601198 |
NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629
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CYP2U1 |
cytochrome P450 family 2 subfamily U member 1 |
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IAGP |
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HPO |
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MIM:615030 |
NCBI chr 4:107,931,549...107,953,461
Ensembl chr 4:107,931,549...107,953,461
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DENND5A |
DENN domain containing 5A |
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IAGP |
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HPO |
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MIM:617281 |
NCBI chr11:9,138,825...9,265,350
Ensembl chr11:9,138,825...9,265,959
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DNM1L |
dynamin 1 like |
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IAGP |
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HPO |
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ORPHA:98673 |
NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650
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ERCC3 |
ERCC excision repair 3, TFIIH core complex helicase subunit |
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IAGP |
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HPO |
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MIM:610651 |
NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166
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ERCC4 |
ERCC excision repair 4, endonuclease catalytic subunit |
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IAGP |
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HPO |
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ORPHA:90321 |
NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
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ERCC6 |
ERCC excision repair 6, chromatin remodeling factor |
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IAGP |
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HPO |
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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
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ERCC8 |
ERCC excision repair 8, CSA ubiquitin ligase complex subunit |
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IAGP |
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HPO |
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MIM:216400 ORPHA:90321 ORPHA:90324 |
NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073
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ESAM |
endothelial cell adhesion molecule |
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IAGP |
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HPO |
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MIM:620371 |
NCBI chr11:124,753,126...124,762,290
Ensembl chr11:124,752,583...124,762,290
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EXOSC2 |
exosome component 2 |
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IAGP |
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HPO |
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MIM:617763 |
NCBI chr 9:130,693,760...130,704,894
Ensembl chr 9:130,693,721...130,707,288
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FAM111A |
FAM111 trypsin like peptidase A |
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IAGP |
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HPO |
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MIM:127000 ORPHA:93325 |
NCBI chr11:59,142,856...59,155,039
Ensembl chr11:59,142,748...59,155,039
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GATA3 |
GATA binding protein 3 |
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IAGP |
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HPO |
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MIM:146255 |
NCBI chr10:8,045,333...8,075,198
Ensembl chr10:8,045,378...8,075,198
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GJA1 |
gap junction protein alpha 1 |
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IAGP |
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HPO |
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MIM:164200 |
NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
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GNA11 |
G protein subunit alpha 11 |
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IAGP |
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HPO |
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MIM:615361 |
NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999
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GNAS |
GNAS complex locus |
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IAGP |
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HPO |
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MIM:103580 MIM:612462 ORPHA:79443 ORPHA:79444 |
NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
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IFIH1 |
interferon induced with helicase C domain 1 |
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IAGP |
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HPO |
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MIM:615846 |
NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
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ISG15 |
ISG15 ubiquitin like modifier |
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IAGP |
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HPO |
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MIM:616126 |
NCBI chr 1:1,013,497...1,014,540
Ensembl chr 1:1,001,138...1,014,540
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JAM2 |
junctional adhesion molecule 2 |
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IAGP |
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HPO |
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MIM:618824 |
NCBI chr21:25,639,258...25,717,562
Ensembl chr21:25,639,258...25,717,562
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LOC126863256 |
BRD4-independent group 4 enhancer GRCh37_chrX:48934848-48936047 |
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IAGP |
ClinVar Annotator: match by term: Basal ganglia calcification |
ClinVar |
PMID:32581362 |
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NCBI chr X:49,077,189...49,078,388
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LSM11 |
LSM11, U7 small nuclear RNA associated |
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IAGP |
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HPO |
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MIM:619486 |
NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709
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MT-CO1 |
mitochondrially encoded cytochrome c oxidase I |
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IAGP |
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HPO |
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ORPHA:550 |
NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445
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MT-CO2 |
mitochondrially encoded cytochrome c oxidase II |
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IAGP |
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HPO |
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ORPHA:550 |
NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269
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MT-CO3 |
mitochondrially encoded cytochrome c oxidase III |
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IAGP |
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HPO |
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ORPHA:550 |
NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990
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MT-ND1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
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IAGP |
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HPO |
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ORPHA:550 |
NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262
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MT-ND4 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 |
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IAGP |
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HPO |
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ORPHA:550 |
NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137
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MT-ND5 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 |
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IAGP |
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HPO |
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ORPHA:550 |
NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148
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MT-ND6 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 |
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IAGP |
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HPO |
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ORPHA:550 |
NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673
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MT-TF |
mitochondrially encoded tRNA-Phe (UUU/C) |
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IAGP |
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HPO |
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ORPHA:550 |
NCBI chr MT:577...647
Ensembl chr MT:577...647
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MT-TH |
mitochondrially encoded tRNA-His (CAU/C) |
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IAGP |
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HPO |
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ORPHA:550 |
NCBI chr MT:12,138...12,206
Ensembl chr MT:12,138...12,206
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MT-TL1 |
mitochondrially encoded tRNA-Leu (UUA/G) 1 |
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IAGP |
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HPO |
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ORPHA:550 |
NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304
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MT-TQ |
mitochondrially encoded tRNA-Gln (CAA/G) |
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IAGP |
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HPO |
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ORPHA:550 |
NCBI chr MT:4,329...4,400
Ensembl chr MT:4,329...4,400
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MT-TS1 |
mitochondrially encoded tRNA-Ser (UCN) 1 |
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IAGP |
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HPO |
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ORPHA:550 |
NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514
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MT-TS2 |
mitochondrially encoded tRNA-Ser (AGU/C) 2 |
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IAGP |
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HPO |
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ORPHA:550 |
NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265
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MT-TW |
mitochondrially encoded tRNA-Trp (UGA/G) |
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IAGP |
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HPO |
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ORPHA:550 |
NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579
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MYORG |
myogenesis regulating glycosidase |
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IAGP |
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HPO |
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MIM:618317 |
NCBI chr 9:34,366,666...34,376,898
Ensembl chr 9:34,366,666...34,376,898
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NAA60 |
N-alpha-acetyltransferase 60, NatF catalytic subunit |
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IAGP |
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HPO |
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MIM:620786 |
NCBI chr16:3,443,611...3,486,963
Ensembl chr16:3,443,649...3,486,953
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OPA1 |
OPA1 mitochondrial dynamin like GTPase |
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IAGP |
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HPO |
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ORPHA:98673 |
NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811
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PDGFB |
platelet derived growth factor subunit B |
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IAGP |
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HPO |
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MIM:213600 MIM:615483 |
NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
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PDGFRB |
platelet derived growth factor receptor beta |
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IAGP |
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HPO |
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MIM:213600 MIM:615007 |
NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
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PSMB8 |
proteasome 20S subunit beta 8 |
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IAGP |
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HPO |
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MIM:256040 |
NCBI chr 6:32,840,717...32,844,679
Ensembl chr 6:32,840,717...32,844,679
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G |
PSMB9 |
proteasome 20S subunit beta 9 |
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IAGP |
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HPO |
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MIM:620796 |
NCBI chr 6:32,854,192...32,859,851
Ensembl chr 6:32,844,136...32,860,734
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PSMG2 |
proteasome assembly chaperone 2 |
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IAGP |
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HPO |
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MIM:619183 |
NCBI chr18:12,658,738...12,725,740
Ensembl chr18:12,658,043...12,728,945
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RBBP8 |
RB binding protein 8, endonuclease |
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IAGP |
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HPO |
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MIM:606744 |
NCBI chr18:22,914,139...23,026,486
Ensembl chr18:22,798,261...23,026,488
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G |
RNASEH2B |
ribonuclease H2 subunit B |
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IAGP |
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HPO |
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MIM:610181 |
NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120
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G |
RNU7-1 |
RNA, U7 small nuclear 1 |
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IAGP |
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HPO |
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MIM:619487 |
NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878
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G |
SAMHD1 |
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 |
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IAGP |
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HPO |
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MIM:612952 |
NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893
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G |
SLC20A2 |
solute carrier family 20 member 2 |
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IAGP |
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HPO |
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MIM:213600 |
NCBI chr 8:42,416,475...42,541,954
Ensembl chr 8:42,416,475...42,541,926
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SLC25A46 |
solute carrier family 25 member 46 |
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IAGP |
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HPO |
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MIM:616505 |
NCBI chr 5:110,738,145...110,765,157
Ensembl chr 5:110,738,136...110,765,161
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SLC46A1 |
solute carrier family 46 member 1 |
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IAGP |
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HPO |
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MIM:229050 |
NCBI chr17:28,394,642...28,406,592
Ensembl chr17:28,394,642...28,407,197
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SNORD118 |
small nucleolar RNA, C/D box 118 |
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IAGP |
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HPO |
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ORPHA:542310 |
NCBI chr17:8,173,452...8,173,588
Ensembl chr17:8,173,454...8,173,587
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TREM2 |
triggering receptor expressed on myeloid cells 2 |
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IAGP |
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HPO |
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MIM:618193 |
NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186
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TREX1 |
three prime repair exonuclease 1 |
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IAGP |
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HPO |
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MIM:225750 |
NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
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TYROBP |
transmembrane immune signaling adaptor TYROBP |
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IAGP |
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HPO |
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MIM:221770 |
NCBI chr19:35,904,403...35,908,295
Ensembl chr19:35,904,401...35,908,295
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G |
WDR45 |
WD repeat domain 45 |
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IAGP |
ClinVar Annotator: match by term: Basal ganglia calcification |
ClinVar |
PMID:32581362 |
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NCBI chr X:49,074,442...49,101,178
Ensembl chr X:49,074,433...49,101,170
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XPR1 |
xenotropic and polytropic retrovirus receptor 1 |
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IAGP |
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HPO |
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MIM:616413 |
NCBI chr 1:180,632,022...180,890,279
Ensembl chr 1:180,632,022...180,890,279
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ECM1 |
extracellular matrix protein 1 |
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IAGP |
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HPO |
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MIM:247100 |
NCBI chr 1:150,508,109...150,513,789
Ensembl chr 1:150,508,062...150,513,789
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ARSL |
arylsulfatase L |
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IAGP |
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HPO |
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ORPHA:79345 |
NCBI chr X:2,934,521...2,968,245
Ensembl chr X:2,934,045...2,968,475
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SNRPB |
small nuclear ribonucleoprotein polypeptides B and B1 |
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IAGP |
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HPO |
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MIM:117650 |
NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853
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EBP |
EBP cholestenol delta-isomerase |
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IAGP |
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HPO |
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MIM:302960 |
NCBI chr X:48,521,808...48,528,716
Ensembl chr X:48,521,799...48,528,716
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G |
GNPAT |
glyceronephosphate O-acyltransferase |
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IAGP |
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HPO |
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MIM:222765 |
NCBI chr 1:231,241,212...231,277,973
Ensembl chr 1:231,241,207...231,277,973
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G |
HSD17B4 |
hydroxysteroid 17-beta dehydrogenase 4 |
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IAGP |
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HPO |
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MIM:261515 |
NCBI chr 5:119,452,497...119,542,332
Ensembl chr 5:119,452,465...119,637,199
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ANKH |
ANKH inorganic pyrophosphate transport regulator |
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IAGP |
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HPO |
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ORPHA:1416 |
NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778
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G |
DDR2 |
discoidin domain receptor tyrosine kinase 2 |
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IAGP |
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HPO |
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MIM:271665 |
NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
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HGD |
homogentisate 1,2-dioxygenase |
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IAGP |
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HPO |
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ORPHA:56 |
NCBI chr 3:120,628,172...120,682,239
Ensembl chr 3:120,628,172...120,682,269
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G |
MGP |
matrix Gla protein |
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IAGP |
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HPO |
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ORPHA:85202 |
NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857
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G |
TNFRSF11B |
TNF receptor superfamily member 11b |
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IAGP |
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HPO |
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ORPHA:1416 |
NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885
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ABCC6 |
ATP binding cassette subfamily C member 6 |
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IAGP |
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HPO |
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MIM:177850 |
NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
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G |
COL11A1 |
collagen type XI alpha 1 chain |
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IAGP |
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HPO |
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MIM:154780 |
NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872
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G |
DDR2 |
discoidin domain receptor tyrosine kinase 2 |
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IAGP |
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HPO |
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MIM:271665 |
NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
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G |
PTCH1 |
patched 1 |
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IAGP |
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HPO |
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MIM:109400 ORPHA:377 ORPHA:77301 |
NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
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G |
PTCH2 |
patched 2 |
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IAGP |
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HPO |
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ORPHA:377 |
NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,154...44,843,253
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G |
SUFU |
SUFU negative regulator of hedgehog signaling |
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IAGP |
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HPO |
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MIM:620343 ORPHA:377 |
NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
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G |
ZSWIM6 |
zinc finger SWIM-type containing 6 |
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IAGP |
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HPO |
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MIM:603671 |
NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172
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G |
ABCC6 |
ATP binding cassette subfamily C member 6 |
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IAGP |
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HPO |
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ORPHA:51608 |
NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
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G |
ABCG5 |
ATP binding cassette subfamily G member 5 |
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IAGP |
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HPO |
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ORPHA:391665 |
NCBI chr 2:43,806,211...43,839,231
Ensembl chr 2:43,812,472...43,838,865
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G |
ABCG8 |
ATP binding cassette subfamily G member 8 |
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IAGP |
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HPO |
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ORPHA:391665 |
NCBI chr 2:43,838,971...43,882,988
Ensembl chr 2:43,831,942...43,882,988
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G |
ADAR |
adenosine deaminase RNA specific |
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IAGP |
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HPO |
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ORPHA:51 |
NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013
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G |
APOB |
apolipoprotein B |
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IAGP |
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HPO |
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ORPHA:391665 |
NCBI chr 2:21,001,429...21,044,073
Ensembl chr 2:21,001,429...21,044,073
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G |
ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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IAGP |
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HPO |
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ORPHA:51608 |
NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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G |
GBA1 |
glucosylceramidase beta 1 |
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IAGP |
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HPO |
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MIM:231005 ORPHA:2072 ORPHA:77261 |
NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
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G |
IFIH1 |
interferon induced with helicase C domain 1 |
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IAGP |
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HPO |
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ORPHA:51 |
NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
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G |
LDLR |
low density lipoprotein receptor |
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IAGP |
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HPO |
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ORPHA:391665 |
NCBI chr19:11,089,463...11,133,820
Ensembl chr19:11,089,418...11,133,820
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G |
LDLRAP1 |
low density lipoprotein receptor adaptor protein 1 |
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IAGP |
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HPO |
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ORPHA:391665 |
NCBI chr 1:25,543,606...25,590,400
Ensembl chr 1:25,543,604...25,591,200
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G |
LSM11 |
LSM11, U7 small nuclear RNA associated |
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IAGP |
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HPO |
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ORPHA:51 |
NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709
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G |
PCSK9 |
proprotein convertase subtilisin/kexin type 9 |
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IAGP |
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HPO |
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ORPHA:391665 |
NCBI chr 1:55,039,548...55,064,852
Ensembl chr 1:55,039,445...55,064,852
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G |
RNASEH2A |
ribonuclease H2 subunit A |
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IAGP |
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HPO |
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ORPHA:51 |
NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640
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G |
RNASEH2B |
ribonuclease H2 subunit B |
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IAGP |
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HPO |
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ORPHA:51 |
NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120
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G |
RNASEH2C |
ribonuclease H2 subunit C |
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IAGP |
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HPO |
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ORPHA:51 |
NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818
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G |
RNU7-1 |
RNA, U7 small nuclear 1 |
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IAGP |
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HPO |
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ORPHA:51 |
NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878
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G |
SAMHD1 |
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 |
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IAGP |
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HPO |
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ORPHA:51 |
NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893
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G |
SLC34A2 |
solute carrier family 34 member 2 |
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IAGP |
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HPO |
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ORPHA:60025 |
NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748
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G |
SMAD6 |
SMAD family member 6 |
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IAGP |
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HPO |
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MIM:614823 |
NCBI chr15:66,702,236...66,782,849
Ensembl chr15:66,702,236...66,782,849
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G |
TREX1 |
three prime repair exonuclease 1 |
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IAGP |
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HPO |
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ORPHA:51 |
NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
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G |
ABCC6 |
ATP binding cassette subfamily C member 6 |
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IAGP |
|
HPO |
|
ORPHA:51608 |
NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
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G |
ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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IAGP |
|
HPO |
|
ORPHA:51608 |
NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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G |
MGP |
matrix Gla protein |
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IAGP |
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HPO |
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MIM:245150 |
NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857
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G |
ZBTB20 |
zinc finger and BTB domain containing 20 |
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IAGP |
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HPO |
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MIM:259050 ORPHA:3042 |
NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,292
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G |
PDGFB |
platelet derived growth factor subunit B |
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IAGP |
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HPO |
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MIM:213600 |
NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
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G |
PDGFRB |
platelet derived growth factor receptor beta |
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IAGP |
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HPO |
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MIM:213600 |
NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
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G |
SLC20A2 |
solute carrier family 20 member 2 |
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IAGP |
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HPO |
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MIM:213600 |
NCBI chr 8:42,416,475...42,541,954
Ensembl chr 8:42,416,475...42,541,926
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G |
ABCC6 |
ATP binding cassette subfamily C member 6 |
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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
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G |
AGXT |
alanine--glyoxylate aminotransferase |
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IAGP |
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HPO |
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MIM:259900 |
NCBI chr 2:240,868,824...240,880,500
Ensembl chr 2:240,868,824...240,880,502
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G |
ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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IAGP |
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HPO |
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MIM:615522 |
NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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G |
LBR |
lamin B receptor |
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IAGP |
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HPO |
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MIM:613471 |
NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
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G |
SAMD9 |
sterile alpha motif domain containing 9 |
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IAGP |
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HPO |
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MIM:610455 |
NCBI chr 7:93,099,518...93,117,979
Ensembl chr 7:93,099,513...93,118,023
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G |
B2M |
beta-2-microglobulin |
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IAGP |
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HPO |
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ORPHA:314652 |
NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851
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G |
ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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IAGP |
|
HPO |
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MIM:208000 |
NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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G |
CMPK2 |
cytidine/uridine monophosphate kinase 2 |
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IAGP |
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HPO |
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MIM:621018 |
NCBI chr 2:6,840,553...6,866,635
Ensembl chr 2:6,840,570...6,866,635
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G |
ERCC6 |
ERCC excision repair 6, chromatin remodeling factor |
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IAGP |
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HPO |
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MIM:133540 |
NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
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G |
JAM2 |
junctional adhesion molecule 2 |
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IAGP |
|
HPO |
|
MIM:618824 |
NCBI chr21:25,639,258...25,717,562
Ensembl chr21:25,639,258...25,717,562
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G |
NAA60 |
N-alpha-acetyltransferase 60, NatF catalytic subunit |
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IAGP |
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HPO |
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MIM:620786 |
NCBI chr16:3,443,611...3,486,963
Ensembl chr16:3,443,649...3,486,953
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G |
PDGFB |
platelet derived growth factor subunit B |
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IAGP |
|
HPO |
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MIM:615483 |
NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
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G |
RBBP8 |
RB binding protein 8, endonuclease |
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IAGP |
|
HPO |
|
MIM:606744 |
NCBI chr18:22,914,139...23,026,486
Ensembl chr18:22,798,261...23,026,488
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G |
TREX1 |
three prime repair exonuclease 1 |
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IAGP |
|
HPO |
|
MIM:225750 |
NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
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G |
ERCC6 |
ERCC excision repair 6, chromatin remodeling factor |
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IAGP |
|
HPO |
|
ORPHA:90324 |
NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
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G |
ERCC8 |
ERCC excision repair 8, CSA ubiquitin ligase complex subunit |
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IAGP |
|
HPO |
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ORPHA:90324 |
NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073
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G |
MYORG |
myogenesis regulating glycosidase |
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IAGP |
|
HPO |
|
MIM:618317 |
NCBI chr 9:34,366,666...34,376,898
Ensembl chr 9:34,366,666...34,376,898
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G |
PDGFB |
platelet derived growth factor subunit B |
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IAGP |
|
HPO |
|
MIM:213600 |
NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
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G |
PDGFRB |
platelet derived growth factor receptor beta |
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IAGP |
|
HPO |
|
MIM:213600 |
NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
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G |
SLC20A2 |
solute carrier family 20 member 2 |
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IAGP |
|
HPO |
|
MIM:213600 |
NCBI chr 8:42,416,475...42,541,954
Ensembl chr 8:42,416,475...42,541,926
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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
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G |
ABCC6 |
ATP binding cassette subfamily C member 6 |
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IAGP |
|
HPO |
|
ORPHA:51608 ORPHA:758 |
NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
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G |
ACD |
ACD shelterin complex subunit and telomerase recruitment factor |
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IAGP |
|
HPO |
|
ORPHA:3322 |
NCBI chr16:67,657,512...67,660,260
Ensembl chr16:67,657,512...67,660,810
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G |
ACP5 |
acid phosphatase 5, tartrate resistant |
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IAGP |
|
HPO |
|
MIM:607944 ORPHA:1855 |
NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993
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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
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G |
AIRE |
autoimmune regulator |
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IAGP |
|
HPO |
|
ORPHA:3453 |
NCBI chr21:44,285,876...44,298,648
Ensembl chr21:44,285,838...44,298,648
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G |
AMER1 |
APC membrane recruitment protein 1 |
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IAGP |
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HPO |
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ORPHA:2780 |
NCBI chr X:64,185,117...64,205,708
Ensembl chr X:64,185,117...64,205,708
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AP1S2 |
adaptor related protein complex 1 subunit sigma 2 |
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IAGP |
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HPO |
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MIM:304340 ORPHA:85335 |
NCBI chr X:15,825,806...15,854,813
Ensembl chr X:15,825,806...15,854,931
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APP |
amyloid beta precursor protein |
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IAGP |
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HPO |
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ORPHA:100006 |
NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128
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ATP7A |
ATPase copper transporting alpha |
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IAGP |
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HPO |
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ORPHA:198 |
NCBI chr X:77,910,693...78,050,395
Ensembl chr X:77,910,690...78,050,395
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BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
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IAGP |
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HPO |
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ORPHA:54595 |
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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CA2 |
carbonic anhydrase 2 |
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IAGP |
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HPO |
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MIM:259730 ORPHA:2785 |
NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493
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G |
CLCNKB |
chloride voltage-gated channel Kb |
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IAGP |
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HPO |
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ORPHA:358 |
NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311
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COL11A1 |
collagen type XI alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:560 |
NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872
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COL2A1 |
collagen type II alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:85198 |
NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
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G |
COL4A1 |
collagen type IV alpha 1 chain |
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IAGP |
ClinVar Annotator: match by term: Cerebral calcification |
ClinVar |
PMID:7695699 PMID:8218237 PMID:9016532 PMID:16598045 PMID:17078022 PMID:17938367 PMID:19344236 PMID:22102590 PMID:25741868 PMID:26362372 PMID:28492532 PMID:31857254 PMID:32033901 More...
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NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202
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COLGALT1 |
collagen beta(1-O)galactosyltransferase 1 |
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IAGP |
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HPO |
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MIM:618360 |
NCBI chr19:17,555,649...17,583,157
Ensembl chr19:17,555,649...17,583,162
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G |
CPT2 |
carnitine palmitoyltransferase 2 |
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IAGP |
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HPO |
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ORPHA:228308 |
NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
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G |
CSF1R |
colony stimulating factor 1 receptor |
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IAGP |
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HPO |
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MIM:618476 |
NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372
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G |
CTC1 |
CST telomere replication complex component 1 |
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IAGP |
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HPO |
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MIM:612199 ORPHA:1775 |
NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058
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G |
CTNNB1 |
catenin beta 1 |
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IAGP |
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HPO |
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ORPHA:54595 |
NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
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G |
CTNS |
cystinosin, lysosomal cystine transporter |
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IAGP |
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HPO |
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MIM:219800 |
NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103
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G |
CTSC |
cathepsin C |
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IAGP |
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HPO |
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ORPHA:678 |
NCBI chr11:88,293,592...88,337,736
Ensembl chr11:88,265,069...88,359,684
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G |
DAG1 |
dystroglycan 1 |
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IAGP |
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HPO |
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MIM:616538 |
NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618
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G |
DENND5A |
DENN domain containing 5A |
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IAGP |
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HPO |
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MIM:617281 |
NCBI chr11:9,138,825...9,265,350
Ensembl chr11:9,138,825...9,265,959
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G |
DKC1 |
dyskerin pseudouridine synthase 1 |
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IAGP |
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HPO |
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ORPHA:1775 ORPHA:3322 |
NCBI chr X:154,762,864...154,777,689
Ensembl chr X:154,762,742...154,777,689
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G |
ECM1 |
extracellular matrix protein 1 |
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IAGP |
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HPO |
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ORPHA:530 |
NCBI chr 1:150,508,109...150,513,789
Ensembl chr 1:150,508,062...150,513,789
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G |
ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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IAGP |
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HPO |
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ORPHA:51608 ORPHA:758 |
NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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G |
ERCC1 |
ERCC excision repair 1, endonuclease non-catalytic subunit |
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IAGP |
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HPO |
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ORPHA:1466 |
NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828
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G |
ERCC2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
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IAGP |
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HPO |
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ORPHA:1466 |
NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
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G |
ERCC5 |
ERCC excision repair 5, endonuclease |
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IAGP |
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HPO |
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ORPHA:1466 |
NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995
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G |
ERCC6 |
ERCC excision repair 6, chromatin remodeling factor |
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IAGP |
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HPO |
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ORPHA:1466 |
NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
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G |
ESAM |
endothelial cell adhesion molecule |
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IAGP |
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HPO |
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MIM:620371 |
NCBI chr11:124,753,126...124,762,290
Ensembl chr11:124,752,583...124,762,290
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G |
FAM20C |
FAM20C golgi associated secretory pathway kinase |
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IAGP |
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HPO |
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MIM:259775 |
NCBI chr 7:192,571...260,772
Ensembl chr 7:192,571...260,772
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G |
FARSB |
phenylalanyl-tRNA synthetase subunit beta |
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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
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G |
FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP |
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HPO |
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ORPHA:2396 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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G |
GJA1 |
gap junction protein alpha 1 |
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IAGP |
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HPO |
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ORPHA:2710 |
NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
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G |
GNAQ |
G protein subunit alpha q |
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IAGP |
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HPO |
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ORPHA:3205 ORPHA:624 |
NCBI chr 9:77,716,097...78,031,811
Ensembl chr 9:77,716,097...78,031,811
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G |
GNAS |
GNAS complex locus |
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IAGP |
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HPO |
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ORPHA:79443 ORPHA:79444 |
NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
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G |
HLA-DQA1 |
major histocompatibility complex, class II, DQ alpha 1 |
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IAGP |
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HPO |
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MIM:212750 |
NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
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G |
HLA-DQB1 |
major histocompatibility complex, class II, DQ beta 1 |
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IAGP |
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HPO |
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MIM:212750 |
NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
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G |
HRAS |
HRas proto-oncogene, GTPase |
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IAGP |
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HPO |
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ORPHA:2612 |
NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
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G |
IFIH1 |
interferon induced with helicase C domain 1 |
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IAGP |
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HPO |
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ORPHA:51 |
NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
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G |
IFNG |
interferon gamma |
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IAGP |
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HPO |
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MIM:613254 |
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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G |
IRF8 |
interferon regulatory factor 8 |
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IAGP |
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HPO |
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MIM:226990 |
NCBI chr16:85,899,162...85,922,609
Ensembl chr16:85,899,116...85,922,606
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G |
JAM2 |
junctional adhesion molecule 2 |
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IAGP |
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HPO |
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ORPHA:1980 |
NCBI chr21:25,639,258...25,717,562
Ensembl chr21:25,639,258...25,717,562
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G |
KARS1 |
lysyl-tRNA synthetase 1 |
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IAGP |
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HPO |
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MIM:619147 |
NCBI chr16:75,627,724...75,647,665
Ensembl chr16:75,627,474...75,648,643
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G |
KATNB1 |
katanin regulatory subunit B1 |
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IAGP |
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HPO |
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ORPHA:89844 |
NCBI chr16:57,735,770...57,757,244
Ensembl chr16:57,735,739...57,757,244
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G |
KL |
klotho |
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IAGP |
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HPO |
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MIM:617994 |
NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143
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G |
KRAS |
KRAS proto-oncogene, GTPase |
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IAGP |
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HPO |
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ORPHA:2396 ORPHA:2612 |
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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G |
KRIT1 |
KRIT1 ankyrin repeat containing |
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IAGP |
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HPO |
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MIM:116860 |
NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,197,498...92,246,166
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G |
LSM11 |
LSM11, U7 small nuclear RNA associated |
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IAGP |
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HPO |
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ORPHA:51 |
NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709
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G |
MGP |
matrix Gla protein |
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IAGP |
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HPO |
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MIM:245150 |
NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857
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G |
MYMK |
myomaker, myoblast fusion factor |
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IAGP |
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HPO |
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ORPHA:1358 |
NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612
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G |
MYMX |
myomixer, myoblast fusion factor |
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IAGP |
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HPO |
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ORPHA:1358 |
NCBI chr 6:44,192,721...44,218,234
Ensembl chr 6:44,216,926...44,218,236
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G |
MYO5A |
myosin VA |
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IAGP |
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HPO |
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ORPHA:79476 |
NCBI chr15:52,307,283...52,529,050
Ensembl chr15:52,307,281...52,529,132
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G |
MYORG |
myogenesis regulating glycosidase |
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IAGP |
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HPO |
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ORPHA:1980 |
NCBI chr 9:34,366,666...34,376,898
Ensembl chr 9:34,366,666...34,376,898
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G |
NDE1 |
nudE neurodevelopment protein 1 |
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IAGP |
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HPO |
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ORPHA:89844 |
NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691
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G |
NHP2 |
NHP2 ribonucleoprotein |
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IAGP |
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HPO |
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MIM:613987 ORPHA:1775 |
NCBI chr 5:178,149,463...178,153,885
Ensembl chr 5:178,149,463...178,153,894
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G |
NOP10 |
NOP10 ribonucleoprotein |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180
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G |
NPM1 |
nucleophosmin 1 |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810
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G |
NRAS |
NRAS proto-oncogene, GTPase |
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IAGP |
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HPO |
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ORPHA:2612 |
NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
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G |
NSMCE3 |
NSE3 homolog, SMC5-SMC6 complex component |
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IAGP |
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HPO |
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MIM:617241 |
NCBI chr15:29,264,989...29,269,822
Ensembl chr15:29,264,989...29,269,822
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G |
OCLN |
occludin |
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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
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G |
ODC1 |
ornithine decarboxylase 1 |
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IAGP |
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HPO |
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MIM:619075 |
NCBI chr 2:10,439,968...10,448,327
Ensembl chr 2:10,439,968...10,448,327
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G |
PAH |
phenylalanine hydroxylase |
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IAGP |
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HPO |
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MIM:261600 ORPHA:79254 |
NCBI chr12:102,836,889...102,958,441
Ensembl chr12:102,836,889...102,958,410
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G |
PARN |
poly(A)-specific ribonuclease |
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IAGP |
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HPO |
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ORPHA:1775 ORPHA:3322 |
NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728
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G |
PDGFB |
platelet derived growth factor subunit B |
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IAGP |
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HPO |
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MIM:615483 ORPHA:1980 |
NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
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G |
PDGFRB |
platelet derived growth factor receptor beta |
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IAGP |
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HPO |
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ORPHA:1980 |
NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
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G |
PEX1 |
peroxisomal biogenesis factor 1 |
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IAGP |
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HPO |
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ORPHA:3220 |
NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520
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G |
PEX6 |
peroxisomal biogenesis factor 6 |
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IAGP |
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HPO |
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ORPHA:3220 |
NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181
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G |
POT1 |
protection of telomeres 1 |
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IAGP |
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HPO |
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MIM:620368 |
NCBI chr 7:124,822,386...124,929,825
Ensembl chr 7:124,822,386...124,929,983
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G |
PPFIBP1 |
PPFIA binding protein 1 |
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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
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G |
PTCH1 |
patched 1 |
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IAGP |
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HPO |
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ORPHA:377 |
NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
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G |
PTCH2 |
patched 2 |
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IAGP |
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HPO |
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ORPHA:377 |
NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,154...44,843,253
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G |
PTH |
parathyroid hormone |
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IAGP |
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HPO |
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MIM:146200 |
NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181
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G |
QDPR |
quinoid dihydropteridine reductase |
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IAGP |
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HPO |
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MIM:261630 |
NCBI chr 4:17,486,395...17,512,090
Ensembl chr 4:17,460,261...17,512,206
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G |
RELN |
reelin |
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IAGP |
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HPO |
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ORPHA:89844 |
NCBI chr 7:103,471,789...103,989,658
Ensembl chr 7:103,471,381...103,989,658
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G |
RNASEH2A |
ribonuclease H2 subunit A |
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IAGP |
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HPO |
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MIM:610333 ORPHA:51 |
NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640
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G |
RNASEH2B |
ribonuclease H2 subunit B |
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IAGP |
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HPO |
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ORPHA:51 |
NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120
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G |
RNASEH2C |
ribonuclease H2 subunit C |
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IAGP |
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HPO |
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MIM:610329 ORPHA:51 |
NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818
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G |
RNASET2 |
ribonuclease T2 |
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IAGP |
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HPO |
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MIM:612951 |
NCBI chr 6:166,922,113...166,956,550
Ensembl chr 6:166,922,113...166,957,191
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G |
RNU7-1 |
RNA, U7 small nuclear 1 |
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IAGP |
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HPO |
|
MIM:619487 ORPHA:51 |
NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878
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G |
RTEL1 |
regulator of telomere elongation helicase 1 |
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IAGP |
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HPO |
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ORPHA:1775 ORPHA:3322 |
NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
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G |
SAMHD1 |
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 |
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IAGP |
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HPO |
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ORPHA:51 |
NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893
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G |
SC5D |
sterol-C5-desaturase |
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IAGP |
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HPO |
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ORPHA:46059 |
NCBI chr11:121,292,771...121,313,410
Ensembl chr11:121,292,681...121,313,410
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G |
SLC12A3 |
solute carrier family 12 member 3 |
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IAGP |
|
HPO |
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ORPHA:358 |
NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850
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G |
SLC19A1 |
solute carrier family 19 member 1 |
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IAGP |
|
HPO |
|
MIM:620603 |
NCBI chr21:45,502,517...45,563,025
Ensembl chr21:45,493,572...45,573,365
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G |
SLC20A2 |
solute carrier family 20 member 2 |
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IAGP |
|
HPO |
|
ORPHA:1980 |
NCBI chr 8:42,416,475...42,541,954
Ensembl chr 8:42,416,475...42,541,926
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G |
SLC26A2 |
solute carrier family 26 member 2 |
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IAGP |
|
HPO |
|
ORPHA:628 |
NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
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G |
SLC29A3 |
solute carrier family 29 member 3 |
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IAGP |
|
HPO |
|
ORPHA:1782 |
NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423
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G |
SLC46A1 |
solute carrier family 46 member 1 |
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IAGP |
|
HPO |
|
ORPHA:90045 |
NCBI chr17:28,394,642...28,406,592
Ensembl chr17:28,394,642...28,407,197
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G |
SLC4A4 |
solute carrier family 4 member 4 |
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IAGP |
|
HPO |
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MIM:604278 |
NCBI chr 4:71,062,660...71,572,083
Ensembl chr 4:71,062,667...71,572,087
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SMARCB1 |
SWI/SNF related BAF chromatin remodeling complex subunit B1 |
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IAGP |
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HPO |
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ORPHA:99966 |
NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
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SNORD118 |
small nucleolar RNA, C/D box 118 |
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IAGP |
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HPO |
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MIM:614561 ORPHA:542310 |
NCBI chr17:8,173,452...8,173,588
Ensembl chr17:8,173,454...8,173,587
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SNRPB |
small nuclear ribonucleoprotein polypeptides B and B1 |
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IAGP |
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HPO |
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ORPHA:1393 |
NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853
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STAT2 |
signal transducer and activator of transcription 2 |
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IAGP |
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HPO |
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MIM:618886 |
NCBI chr12:56,341,597...56,360,107
Ensembl chr12:56,341,597...56,360,203
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SUCLA2 |
succinate-CoA ligase ADP-forming subunit beta |
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IAGP |
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HPO |
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ORPHA:1933 |
NCBI chr13:47,942,656...48,001,273
Ensembl chr13:47,745,736...48,037,968
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SUFU |
SUFU negative regulator of hedgehog signaling |
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IAGP |
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HPO |
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ORPHA:377 |
NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
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TCIRG1 |
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 |
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IAGP |
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HPO |
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ORPHA:1782 |
NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
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TERC |
telomerase RNA component |
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IAGP |
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HPO |
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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
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TERT |
telomerase reverse transcriptase |
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IAGP |
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HPO |
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ORPHA:1775 ORPHA:3322 |
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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TINF2 |
TERF1 interacting nuclear factor 2 |
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IAGP |
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HPO |
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MIM:268130 MIM:613990 ORPHA:1775 ORPHA:3322 |
NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663
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TNFRSF11A |
TNF receptor superfamily member 11a |
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IAGP |
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HPO |
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ORPHA:1782 |
NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,287...62,391,288
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TREM2 |
triggering receptor expressed on myeloid cells 2 |
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IAGP |
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HPO |
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ORPHA:2770 |
NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186
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TREX1 |
three prime repair exonuclease 1 |
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IAGP |
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HPO |
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ORPHA:247691 ORPHA:51 |
NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
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TSC1 |
TSC complex subunit 1 |
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IAGP |
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HPO |
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MIM:191100 |
NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
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TSC2 |
TSC complex subunit 2 |
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IAGP |
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HPO |
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MIM:613254 |
NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
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TYMS |
thymidylate synthetase |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578
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TYROBP |
transmembrane immune signaling adaptor TYROBP |
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IAGP |
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HPO |
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ORPHA:2770 |
NCBI chr19:35,904,403...35,908,295
Ensembl chr19:35,904,401...35,908,295
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USB1 |
U6 snRNA biogenesis phosphodiesterase 1 |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618
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USP18 |
ubiquitin specific peptidase 18 |
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IAGP |
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HPO |
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MIM:617397 |
NCBI chr22:18,150,170...18,177,397
Ensembl chr22:18,149,843...18,177,397
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VPS33A |
VPS33A core subunit of CORVET and HOPS complexes |
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IAGP |
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HPO |
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MIM:617303 ORPHA:505248 |
NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,502
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WRAP53 |
WD repeat containing antisense to TP53 |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502
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WWOX |
WW domain containing oxidoreductase |
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IAGP |
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HPO |
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MIM:616211 |
NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667
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XPR1 |
xenotropic and polytropic retrovirus receptor 1 |
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IAGP |
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HPO |
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ORPHA:1980 |
NCBI chr 1:180,632,022...180,890,279
Ensembl chr 1:180,632,022...180,890,279
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ZBTB20 |
zinc finger and BTB domain containing 20 |
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IAGP |
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HPO |
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MIM:259050 |
NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,292
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ZNFX1 |
zinc finger NFX1-type containing 1 |
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IAGP |
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HPO |
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MIM:619644 |
NCBI chr20:49,245,900...49,278,057
Ensembl chr20:49,237,946...49,278,426
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ALPL |
alkaline phosphatase, biomineralization associated |
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IAGP |
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HPO |
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MIM:146300 |
NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410
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ANKH |
ANKH inorganic pyrophosphate transport regulator |
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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
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AP2S1 |
adaptor related protein complex 2 subunit sigma 1 |
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IAGP |
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HPO |
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MIM:600740 |
NCBI chr19:46,838,167...46,850,846
Ensembl chr19:46,838,136...46,850,846
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ATP7A |
ATPase copper transporting alpha |
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IAGP |
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HPO |
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ORPHA:565 |
NCBI chr X:77,910,693...78,050,395
Ensembl chr X:77,910,690...78,050,395
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ATP7B |
ATPase copper transporting beta |
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IAGP |
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HPO |
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MIM:277900 |
NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125
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CDC73 |
cell division cycle 73 |
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IAGP |
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HPO |
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ORPHA:143 ORPHA:99879 ORPHA:99880 |
NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,983...193,254,815
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CLCNKB |
chloride voltage-gated channel Kb |
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IAGP |
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HPO |
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ORPHA:358 |
NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311
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FXYD2 |
FXYD domain containing ion transport regulator 2 |
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IAGP |
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HPO |
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MIM:154020 |
NCBI chr11:117,820,057...117,828,089
Ensembl chr11:117,800,844...117,828,698
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GCM2 |
glial cells missing transcription factor 2 |
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IAGP |
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HPO |
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ORPHA:99879 |
NCBI chr 6:10,873,223...10,882,041
Ensembl chr 6:10,873,223...10,882,041
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GNA11 |
G protein subunit alpha 11 |
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IAGP |
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HPO |
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MIM:145981 |
NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999
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HYAL1 |
hyaluronidase 1 |
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IAGP |
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HPO |
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MIM:601492 |
NCBI chr 3:50,299,893...50,312,381
Ensembl chr 3:50,299,890...50,312,381
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G |
KCNJ1 |
potassium inwardly rectifying channel subfamily J member 1 |
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IAGP |
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HPO |
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MIM:241200 |
NCBI chr11:128,838,020...128,867,296
Ensembl chr11:128,836,315...128,867,373
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G |
LMNA |
lamin A/C |
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IAGP |
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HPO |
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ORPHA:79474 |
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
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G |
LOC129993725 |
ATAC-STARR-seq lymphoblastoid silent region 15944 |
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IAGP |
ClinVar Annotator: match by term: Chondrocalcinosis |
ClinVar |
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NCBI chr 5:14,871,518...14,871,607
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MEFV |
MEFV innate immunity regulator, pyrin |
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IAGP |
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HPO |
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ORPHA:329967 |
NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
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G |
MEN1 |
menin 1 |
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IAGP |
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HPO |
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ORPHA:99879 |
NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
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G |
NOTCH3 |
notch receptor 3 |
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IAGP |
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HPO |
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ORPHA:2591 |
NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
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G |
OTULIN |
OTU deubiquitinase with linear linkage specificity |
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IAGP |
ClinVar Annotator: match by term: Chondrocalcinosis |
ClinVar |
PMID:25741868 |
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NCBI chr 5:14,664,718...14,716,525
Ensembl chr 5:14,664,664...14,716,529
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PDGFRB |
platelet derived growth factor receptor beta |
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IAGP |
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HPO |
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ORPHA:2591 |
NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
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G |
SLC12A1 |
solute carrier family 12 member 1 |
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IAGP |
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HPO |
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MIM:601678 |
NCBI chr15:48,206,302...48,304,078
Ensembl chr15:48,178,438...48,304,078
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G |
SLC12A3 |
solute carrier family 12 member 3 |
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IAGP |
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HPO |
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MIM:263800 ORPHA:358 |
NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850
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G |
TNFRSF11B |
TNF receptor superfamily member 11b |
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IAGP |
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HPO |
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ORPHA:1416 |
NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885
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G |
TNFRSF1A |
TNF receptor superfamily member 1A |
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IAGP |
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HPO |
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ORPHA:329967 |
NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
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G |
WRN |
WRN RecQ like helicase |
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IAGP |
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HPO |
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ORPHA:902 |
NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138
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CTSC |
cathepsin C |
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IAGP |
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HPO |
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MIM:245000 |
NCBI chr11:88,293,592...88,337,736
Ensembl chr11:88,265,069...88,359,684
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G |
GNAS |
GNAS complex locus |
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IAGP |
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HPO |
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MIM:103580 MIM:612462 ORPHA:79443 ORPHA:79444 |
NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
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ABCC6 |
ATP binding cassette subfamily C member 6 |
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IAGP |
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HPO |
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MIM:614473 ORPHA:51608 |
NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
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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
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G |
ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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IAGP |
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HPO |
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MIM:208000 ORPHA:51608 |
NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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HGD |
homogentisate 1,2-dioxygenase |
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IAGP |
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HPO |
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MIM:203500 ORPHA:56 |
NCBI chr 3:120,628,172...120,682,239
Ensembl chr 3:120,628,172...120,682,269
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G |
NT5E |
5'-nucleotidase ecto |
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IAGP |
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HPO |
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MIM:211800 ORPHA:289601 |
NCBI chr 6:85,450,083...85,495,784
Ensembl chr 6:85,449,584...85,495,791
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G |
PHACTR1 |
phosphatase and actin regulator 1 |
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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
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LBR |
lamin B receptor |
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IAGP |
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HPO |
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MIM:215140 |
NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
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G |
MGP |
matrix Gla protein |
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IAGP |
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HPO |
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MIM:245150 |
NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857
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G |
SLC26A2 |
solute carrier family 26 member 2 |
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IAGP |
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HPO |
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MIM:222600 |
NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
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G |
AGPS |
alkylglycerone phosphate synthase |
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IAGP |
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HPO |
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MIM:600121 |
NCBI chr 2:177,392,773...177,543,834
Ensembl chr 2:177,392,746...177,567,024
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G |
ARSL |
arylsulfatase L |
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IAGP |
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HPO |
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MIM:302950 ORPHA:79345 |
NCBI chr X:2,934,521...2,968,245
Ensembl chr X:2,934,045...2,968,475
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DDR2 |
discoidin domain receptor tyrosine kinase 2 |
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IAGP |
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HPO |
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MIM:271665 |
NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
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DHCR7 |
7-dehydrocholesterol reductase |
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IAGP |
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HPO |
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MIM:270400 |
NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868
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G |
DLK1 |
delta like non-canonical Notch ligand 1 |
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IAGP |
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HPO |
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ORPHA:96334 |
NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224
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G |
EBP |
EBP cholestenol delta-isomerase |
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IAGP |
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HPO |
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MIM:302960 ORPHA:35173 |
NCBI chr X:48,521,808...48,528,716
Ensembl chr X:48,521,799...48,528,716
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G |
GGCX |
gamma-glutamyl carboxylase |
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IAGP |
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HPO |
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MIM:277450 |
NCBI chr 2:85,544,720...85,561,493
Ensembl chr 2:85,544,720...85,561,532
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G |
GNPAT |
glyceronephosphate O-acyltransferase |
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IAGP |
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HPO |
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MIM:222765 |
NCBI chr 1:231,241,212...231,277,973
Ensembl chr 1:231,241,207...231,277,973
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G |
GUSB |
glucuronidase beta |
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IAGP |
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HPO |
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ORPHA:584 |
NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,684...65,982,215
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G |
LBR |
lamin B receptor |
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IAGP |
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HPO |
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MIM:215140 |
NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
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G |
MEG3 |
maternally expressed 3 |
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IAGP |
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HPO |
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ORPHA:96334 |
NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,206...100,861,031
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G |
MGP |
matrix Gla protein |
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IAGP |
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HPO |
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MIM:245150 |
NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857
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G |
NEU1 |
neuraminidase 1 |
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IAGP |
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HPO |
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MIM:256550 |
NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,063...31,862,905
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G |
NSDHL |
NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL |
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IAGP |
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HPO |
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MIM:308050 |
NCBI chr X:152,831,063...152,869,729
Ensembl chr X:152,830,967...152,869,729
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G |
PDE4D |
phosphodiesterase 4D |
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IAGP |
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HPO |
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ORPHA:950 |
NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120
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G |
PEX1 |
peroxisomal biogenesis factor 1 |
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IAGP |
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HPO |
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MIM:214100 MIM:601539 ORPHA:912 |
NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520
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G |
PEX10 |
peroxisomal biogenesis factor 10 |
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IAGP |
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HPO |
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MIM:614870 ORPHA:912 |
NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797
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G |
PEX11B |
peroxisomal biogenesis factor 11 beta |
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IAGP |
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HPO |
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ORPHA:912 |
NCBI chr 1:145,911,348...145,918,717
Ensembl chr 1:145,911,350...145,918,717
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G |
PEX12 |
peroxisomal biogenesis factor 12 |
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IAGP |
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HPO |
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MIM:614859 ORPHA:912 |
NCBI chr17:35,574,795...35,578,571
Ensembl chr17:35,574,795...35,578,863
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G |
PEX13 |
peroxisomal biogenesis factor 13 |
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IAGP |
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HPO |
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ORPHA:912 |
NCBI chr 2:61,017,720...61,051,990
Ensembl chr 2:61,017,225...61,051,990
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G |
PEX14 |
peroxisomal biogenesis factor 14 |
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IAGP |
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HPO |
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ORPHA:912 |
NCBI chr 1:10,474,950...10,630,758
Ensembl chr 1:10,472,288...10,630,758
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G |
PEX16 |
peroxisomal biogenesis factor 16 |
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IAGP |
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HPO |
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MIM:614876 ORPHA:912 |
NCBI chr11:45,909,663...45,918,822
Ensembl chr11:45,909,663...45,918,812
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G |
PEX19 |
peroxisomal biogenesis factor 19 |
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IAGP |
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HPO |
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ORPHA:912 |
NCBI chr 1:160,276,807...160,285,151
Ensembl chr 1:160,276,807...160,286,348
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G |
PEX2 |
peroxisomal biogenesis factor 2 |
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IAGP |
|
HPO |
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MIM:614866 ORPHA:912 |
NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044
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G |
PEX26 |
peroxisomal biogenesis factor 26 |
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IAGP |
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HPO |
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MIM:614872 ORPHA:912 |
NCBI chr22:18,077,990...18,105,396
Ensembl chr22:18,077,923...18,105,396
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PEX3 |
peroxisomal biogenesis factor 3 |
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IAGP |
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HPO |
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MIM:614882 ORPHA:912 |
NCBI chr 6:143,450,805...143,490,616
Ensembl chr 6:143,450,805...143,490,616
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PEX5 |
peroxisomal biogenesis factor 5 |
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IAGP |
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HPO |
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ORPHA:912 |
NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574
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PEX6 |
peroxisomal biogenesis factor 6 |
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IAGP |
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HPO |
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MIM:614862 ORPHA:912 |
NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181
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PEX7 |
peroxisomal biogenesis factor 7 |
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IAGP |
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HPO |
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MIM:215100 |
NCBI chr 6:136,822,592...136,913,934
Ensembl chr 6:136,822,564...136,913,934
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PRKAR1A |
protein kinase cAMP-dependent type I regulatory subunit alpha |
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IAGP |
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HPO |
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MIM:101800 ORPHA:950 |
NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
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RTL1 |
retrotransposon Gag like 1 |
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IAGP |
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HPO |
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ORPHA:96334 |
NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722
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THRB |
thyroid hormone receptor beta |
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IAGP |
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HPO |
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MIM:274300 |
NCBI chr 3:24,117,153...24,495,708
Ensembl chr 3:24,117,153...24,495,756
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VPS35L |
VPS35 endosomal protein sorting factor like |
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IAGP |
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HPO |
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MIM:619135 |
NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793
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FLNB |
filamin B |
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IAGP |
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HPO |
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ORPHA:56305 |
NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
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ARSL |
arylsulfatase L |
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IAGP |
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HPO |
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ORPHA:79345 |
NCBI chr X:2,934,521...2,968,245
Ensembl chr X:2,934,045...2,968,475
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NT5E |
5'-nucleotidase ecto |
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IAGP |
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HPO |
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MIM:211800 |
NCBI chr 6:85,450,083...85,495,784
Ensembl chr 6:85,449,584...85,495,791
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ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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IAGP |
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HPO |
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MIM:208000 |
NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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SLC34A2 |
solute carrier family 34 member 2 |
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IAGP |
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HPO |
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ORPHA:60025 |
NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748
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ABCC6 |
ATP binding cassette subfamily C member 6 |
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IAGP |
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HPO |
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ORPHA:51608 |
NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
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CPT2 |
carnitine palmitoyltransferase 2 |
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IAGP |
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HPO |
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MIM:608836 ORPHA:228308 |
NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
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ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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IAGP |
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HPO |
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ORPHA:51608 |
NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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LBR |
lamin B receptor |
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IAGP |
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HPO |
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MIM:215140 |
NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
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LYN |
LYN proto-oncogene, Src family tyrosine kinase |
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IAGP |
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HPO |
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MIM:620376 |
NCBI chr 8:55,879,835...56,014,169
Ensembl chr 8:55,879,835...56,014,169
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NT5E |
5'-nucleotidase ecto |
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IAGP |
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HPO |
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MIM:211800 |
NCBI chr 6:85,450,083...85,495,784
Ensembl chr 6:85,449,584...85,495,791
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ANKH |
ANKH inorganic pyrophosphate transport regulator |
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IAGP |
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HPO |
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MIM:123000 |
NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778
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COL9A1 |
collagen type IX alpha 1 chain |
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IAGP |
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HPO |
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MIM:614135 |
NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084
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HGD |
homogentisate 1,2-dioxygenase |
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IAGP |
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HPO |
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ORPHA:56 |
NCBI chr 3:120,628,172...120,682,239
Ensembl chr 3:120,628,172...120,682,269
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NT5E |
5'-nucleotidase ecto |
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IAGP |
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HPO |
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MIM:211800 |
NCBI chr 6:85,450,083...85,495,784
Ensembl chr 6:85,449,584...85,495,791
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SLC34A2 |
solute carrier family 34 member 2 |
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IAGP |
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HPO |
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MIM:265100 |
NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748
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CMPK2 |
cytidine/uridine monophosphate kinase 2 |
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IAGP |
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HPO |
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MIM:621018 |
NCBI chr 2:6,840,553...6,866,635
Ensembl chr 2:6,840,570...6,866,635
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CPT2 |
carnitine palmitoyltransferase 2 |
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IAGP |
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HPO |
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MIM:608836 ORPHA:228308 |
NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
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ESAM |
endothelial cell adhesion molecule |
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IAGP |
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HPO |
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MIM:620371 |
NCBI chr11:124,753,126...124,762,290
Ensembl chr11:124,752,583...124,762,290
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IFIH1 |
interferon induced with helicase C domain 1 |
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IAGP |
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HPO |
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MIM:615846 |
NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
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NAA60 |
N-alpha-acetyltransferase 60, NatF catalytic subunit |
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IAGP |
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HPO |
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MIM:620786 |
NCBI chr16:3,443,611...3,486,963
Ensembl chr16:3,443,649...3,486,953
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SAMHD1 |
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 |
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IAGP |
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HPO |
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MIM:612952 |
NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893
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SLC2A1 |
solute carrier family 2 member 1 |
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IAGP |
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HPO |
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MIM:608885 ORPHA:168577 |
NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893
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SNORD118 |
small nucleolar RNA, C/D box 118 |
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IAGP |
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HPO |
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ORPHA:542310 |
NCBI chr17:8,173,452...8,173,588
Ensembl chr17:8,173,454...8,173,587
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TREX1 |
three prime repair exonuclease 1 |
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IAGP |
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HPO |
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MIM:225750 |
NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
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ARSL |
arylsulfatase L |
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IAGP |
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HPO |
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ORPHA:79345 |
NCBI chr X:2,934,521...2,968,245
Ensembl chr X:2,934,045...2,968,475
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LBR |
lamin B receptor |
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IAGP |
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HPO |
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MIM:215140 |
NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
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PTH1R |
parathyroid hormone 1 receptor |
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IAGP |
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HPO |
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MIM:215045 |
NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799
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ABCC6 |
ATP binding cassette subfamily C member 6 |
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IAGP |
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HPO |
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MIM:177850 ORPHA:51608 |
NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
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ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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IAGP |
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HPO |
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ORPHA:51608 |
NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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STAT1 |
signal transducer and activator of transcription 1 |
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IAGP |
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HPO |
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ORPHA:391487 |
NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960
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ABCC6 |
ATP binding cassette subfamily C member 6 |
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IAGP |
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HPO |
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MIM:177850 ORPHA:51608 |
NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
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ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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IAGP |
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HPO |
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ORPHA:51608 |
NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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COL11A1 |
collagen type XI alpha 1 chain |
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IAGP |
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HPO |
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MIM:154780 |
NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872
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FBN1 |
fibrillin 1 |
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IAGP |
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HPO |
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MIM:154700 |
NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
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GBA1 |
glucosylceramidase beta 1 |
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IAGP |
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HPO |
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MIM:231005 ORPHA:2072 ORPHA:77261 |
NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
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HGD |
homogentisate 1,2-dioxygenase |
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IAGP |
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HPO |
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MIM:203500 ORPHA:56 |
NCBI chr 3:120,628,172...120,682,239
Ensembl chr 3:120,628,172...120,682,269
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G |
IFIH1 |
interferon induced with helicase C domain 1 |
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IAGP |
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HPO |
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MIM:182250 |
NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
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G |
LMNA |
lamin A/C |
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IAGP |
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HPO |
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ORPHA:363618 ORPHA:740 |
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
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MTX2 |
metaxin 2 |
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IAGP |
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HPO |
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MIM:619127 |
NCBI chr 2:176,269,442...176,338,025
Ensembl chr 2:176,269,395...176,338,025
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SLC34A2 |
solute carrier family 34 member 2 |
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IAGP |
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HPO |
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ORPHA:60025 |
NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748
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ZMPSTE24 |
zinc metallopeptidase STE24 |
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IAGP |
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HPO |
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ORPHA:740 |
NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
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ABCC6 |
ATP binding cassette subfamily C member 6 |
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IAGP |
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HPO |
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ORPHA:51608 |
NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
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G |
ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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IAGP |
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HPO |
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ORPHA:51608 |
NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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EBP |
EBP cholestenol delta-isomerase |
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IAGP |
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HPO |
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ORPHA:35173 |
NCBI chr X:48,521,808...48,528,716
Ensembl chr X:48,521,799...48,528,716
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PRKAR1A |
protein kinase cAMP-dependent type I regulatory subunit alpha |
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IAGP |
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HPO |
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MIM:101800 |
NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
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ABCC6 |
ATP binding cassette subfamily C member 6 |
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IAGP |
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HPO |
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ORPHA:51608 |
NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
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CASR |
calcium sensing receptor |
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IAGP |
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HPO |
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ORPHA:676 |
NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629
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CFTR |
CF transmembrane conductance regulator |
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IAGP |
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HPO |
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MIM:167800 ORPHA:676 |
NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
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CPA1 |
carboxypeptidase A1 |
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IAGP |
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HPO |
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ORPHA:676 |
NCBI chr 7:130,380,494...130,388,108
Ensembl chr 7:130,380,339...130,388,114
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G |
CTRC |
chymotrypsin C |
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IAGP |
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HPO |
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MIM:167800 ORPHA:103918 ORPHA:676 |
NCBI chr 1:15,438,443...15,449,242
Ensembl chr 1:15,438,442...15,449,242
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G |
ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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IAGP |
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HPO |
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ORPHA:51608 |
NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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G |
PRSS1 |
serine protease 1 |
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IAGP |
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HPO |
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MIM:167800 ORPHA:676 |
NCBI chr 7:142,749,472...142,753,072
Ensembl chr 7:142,749,468...142,753,072
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G |
PRSS2 |
serine protease 2 |
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IAGP |
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HPO |
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MIM:167800 ORPHA:676 |
NCBI chr 7:142,770,970...142,774,560
Ensembl chr 7:142,760,398...142,774,564
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G |
SPINK1 |
serine peptidase inhibitor Kazal type 1 |
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IAGP |
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HPO |
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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
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TRPV6 |
transient receptor potential cation channel subfamily V member 6 |
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IAGP |
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HPO |
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ORPHA:676 |
NCBI chr 7:142,871,208...142,885,745
Ensembl chr 7:142,871,208...142,885,745
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ABCC6 |
ATP binding cassette subfamily C member 6 |
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IAGP |
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HPO |
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ORPHA:51608 |
NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
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G |
CCN6 |
cellular communication network factor 6 |
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IAGP |
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HPO |
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ORPHA:1159 |
NCBI chr 6:112,052,813...112,069,686
Ensembl chr 6:112,054,075...112,069,686
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G |
ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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IAGP |
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HPO |
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MIM:208000 ORPHA:51608 |
NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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G |
NT5E |
5'-nucleotidase ecto |
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IAGP |
|
HPO |
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MIM:211800 |
NCBI chr 6:85,450,083...85,495,784
Ensembl chr 6:85,449,584...85,495,791
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G |
ANKH |
ANKH inorganic pyrophosphate transport regulator |
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IAGP |
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HPO |
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MIM:118600 MIM:123000 |
NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778
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COL1A1 |
collagen type I alpha 1 chain |
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IAGP |
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HPO |
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MIM:166220 MIM:259420 |
NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
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G |
COL1A2 |
collagen type I alpha 2 chain |
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IAGP |
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HPO |
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MIM:166220 MIM:259420 |
NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
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G |
P4HB |
prolyl 4-hydroxylase subunit beta |
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IAGP |
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HPO |
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MIM:112240 |
NCBI chr17:81,843,166...81,860,535
Ensembl chr17:81,843,159...81,860,856
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DDR2 |
discoidin domain receptor tyrosine kinase 2 |
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IAGP |
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HPO |
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MIM:271665 |
NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
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G |
FAM111A |
FAM111 trypsin like peptidase A |
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IAGP |
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HPO |
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MIM:127000 ORPHA:93325 |
NCBI chr11:59,142,856...59,155,039
Ensembl chr11:59,142,748...59,155,039
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G |
LRP5 |
LDL receptor related protein 5 |
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IAGP |
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HPO |
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MIM:259770 |
NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275
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G |
RB1 |
RB transcriptional corepressor 1 |
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IAGP |
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HPO |
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MIM:180200 |
NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
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LEMD3 |
LEM domain containing 3 |
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IAGP |
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HPO |
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ORPHA:166119 |
NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355
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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
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G |
EBP |
EBP cholestenol delta-isomerase |
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IAGP |
|
HPO |
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MIM:302960 |
NCBI chr X:48,521,808...48,528,716
Ensembl chr X:48,521,799...48,528,716
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G |
SLC34A2 |
solute carrier family 34 member 2 |
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IAGP |
|
HPO |
|
ORPHA:60025 |
NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748
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G |
PEX2 |
peroxisomal biogenesis factor 2 |
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IAGP |
|
HPO |
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MIM:614866 |
NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044
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G |
PEX5 |
peroxisomal biogenesis factor 5 |
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IAGP |
|
HPO |
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MIM:214110 |
NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574
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G |
ARSL |
arylsulfatase L |
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IAGP |
|
HPO |
|
ORPHA:79345 |
NCBI chr X:2,934,521...2,968,245
Ensembl chr X:2,934,045...2,968,475
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G |
BMPR1B |
bone morphogenetic protein receptor type 1B |
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IAGP |
|
HPO |
|
ORPHA:93384 |
NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
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G |
GDF5 |
growth differentiation factor 5 |
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IAGP |
|
HPO |
|
ORPHA:93384 |
NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
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G |
ERCC1 |
ERCC excision repair 1, endonuclease non-catalytic subunit |
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IAGP |
|
HPO |
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ORPHA:90322 |
NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828
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G |
ERCC6 |
ERCC excision repair 6, chromatin remodeling factor |
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IAGP |
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HPO |
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MIM:133540 ORPHA:90322 ORPHA:90324 |
NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
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G |
ERCC8 |
ERCC excision repair 8, CSA ubiquitin ligase complex subunit |
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IAGP |
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HPO |
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ORPHA:90322 ORPHA:90324 |
NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073
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G |
KARS1 |
lysyl-tRNA synthetase 1 |
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IAGP |
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HPO |
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ORPHA:3240 |
NCBI chr16:75,627,724...75,647,665
Ensembl chr16:75,627,474...75,648,643
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G |
NAA60 |
N-alpha-acetyltransferase 60, NatF catalytic subunit |
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IAGP |
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HPO |
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MIM:620786 |
NCBI chr16:3,443,611...3,486,963
Ensembl chr16:3,443,649...3,486,953
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G |
SNORD118 |
small nucleolar RNA, C/D box 118 |
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IAGP |
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HPO |
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ORPHA:542310 |
NCBI chr17:8,173,452...8,173,588
Ensembl chr17:8,173,454...8,173,587
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G |
FGF23 |
fibroblast growth factor 23 |
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IAGP |
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HPO |
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MIM:617993 |
NCBI chr12:4,368,227...4,379,712
Ensembl chr12:4,368,227...4,379,712
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G |
LMNA |
lamin A/C |
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IAGP |
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HPO |
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ORPHA:79474 |
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
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G |
PSMC3 |
proteasome 26S subunit, ATPase 3 |
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IAGP |
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HPO |
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MIM:619354 |
NCBI chr11:47,418,775...47,426,439
Ensembl chr11:47,418,769...47,426,473
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G |
WRN |
WRN RecQ like helicase |
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IAGP |
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HPO |
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MIM:277700 ORPHA:902 |
NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138
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G |
EBP |
EBP cholestenol delta-isomerase |
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IAGP |
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HPO |
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MIM:302960 |
NCBI chr X:48,521,808...48,528,716
Ensembl chr X:48,521,799...48,528,716
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G |
ECM1 |
extracellular matrix protein 1 |
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IAGP |
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HPO |
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MIM:247100 |
NCBI chr 1:150,508,109...150,513,789
Ensembl chr 1:150,508,062...150,513,789
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GATA5 |
GATA binding protein 5 |
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IAGP |
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HPO |
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ORPHA:402075 |
NCBI chr20:62,463,497...62,475,995
Ensembl chr20:62,463,497...62,475,995
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G |
NKX2-5 |
NK2 homeobox 5 |
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IAGP |
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HPO |
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ORPHA:402075 |
NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311
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G |
NOTCH1 |
notch receptor 1 |
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IAGP |
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HPO |
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ORPHA:402075 |
NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
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G |
SMAD6 |
SMAD family member 6 |
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IAGP |
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HPO |
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ORPHA:402075 |
NCBI chr15:66,702,236...66,782,849
Ensembl chr15:66,702,236...66,782,849
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NT5E |
5'-nucleotidase ecto |
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IAGP |
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HPO |
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MIM:211800 |
NCBI chr 6:85,450,083...85,495,784
Ensembl chr 6:85,449,584...85,495,791
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ARSL |
arylsulfatase L |
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IAGP |
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HPO |
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ORPHA:79345 |
NCBI chr X:2,934,521...2,968,245
Ensembl chr X:2,934,045...2,968,475
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DDR2 |
discoidin domain receptor tyrosine kinase 2 |
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IAGP |
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HPO |
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MIM:271665 |
NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
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G |
EBP |
EBP cholestenol delta-isomerase |
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IAGP |
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HPO |
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MIM:302960 |
NCBI chr X:48,521,808...48,528,716
Ensembl chr X:48,521,799...48,528,716
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G |
LBR |
lamin B receptor |
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IAGP |
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HPO |
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MIM:215140 |
NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
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MGP |
matrix Gla protein |
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IAGP |
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HPO |
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MIM:245150 |
NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857
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G |
ERCC6 |
ERCC excision repair 6, chromatin remodeling factor |
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IAGP |
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HPO |
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ORPHA:90324 |
NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
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G |
ERCC8 |
ERCC excision repair 8, CSA ubiquitin ligase complex subunit |
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IAGP |
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HPO |
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ORPHA:90324 |
NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073
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G |
GALNT3 |
polypeptide N-acetylgalactosaminyltransferase 3 |
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IAGP |
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HPO |
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MIM:211900 |
NCBI chr 2:165,747,588...165,794,692
Ensembl chr 2:165,747,588...165,846,201
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G |
GBA1 |
glucosylceramidase beta 1 |
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IAGP |
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HPO |
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MIM:231000 |
NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
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Term paths to the root
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