RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: calcium metabolism disease
Accession: DOID:10575
browse the term
Definition: Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization.
Synonyms: exact_synonym: calcium metabolism disorder; calcium metabolism disorders
primary_id: MESH:D002128
alt_id: RDO:0001607
xref: ICD9CM:275.4
For additional species annotation, visit the
Alliance of Genome Resources .
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Adar
adenosine deaminase, RNA-specific
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aicardi Goutieres syndrome DNA:mutations:exons:
CTD ClinVar
PMID:9889202 PMID:19060901 PMID:20301648 PMID:22129056 PMID:23001123 PMID:24033266 PMID:24262145 PMID:25456137 PMID:25604658 PMID:25741868 PMID:26629815 PMID:28395385 PMID:28492532 PMID:28561207 PMID:29221912 , PMID:23001123
RGD:11069491
NCBI chr 2:189,045,551...189,085,448
Ensembl chr 2:189,062,443...189,083,236
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Atrip
ATR interacting protein
ISO
ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME
ClinVar
PMID:23602593 PMID:24033266 PMID:24183309 PMID:25582466 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 8:117,797,954...117,811,989
Ensembl chr 8:117,797,842...117,811,975
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Ifih1
interferon induced with helicase C domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24686847
NCBI chr 3:48,557,696...48,604,097
Ensembl chr 3:48,557,696...48,604,097
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Kat5
lysine acetyltransferase 5
ISO
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
ClinVar
NCBI chr 1:220,967,795...220,974,596
Ensembl chr 1:220,967,796...220,974,597
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Rnaseh2a
ribonuclease H2, subunit A
ISO ISS
ClinVar Annotator: match by term: Aicardi Goutieres syndrome OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846
ClinVar MouseDO
PMID:17846997 PMID:20131292 PMID:21454563 PMID:23592335 PMID:24033266
NCBI chr19:26,074,980...26,084,780
Ensembl chr19:26,074,987...26,084,679
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Rnaseh2b
ribonuclease H2, subunit B
ISO
ClinVar Annotator: match by term: Aicardi Goutieres syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:16845400 PMID:17846997 PMID:18069026 PMID:18414213 PMID:18754903 PMID:19015152 PMID:19034401 PMID:19694776 PMID:20131292 PMID:21177854 PMID:22149989 PMID:24033266 PMID:25243380 PMID:25274781 PMID:25343331 PMID:25604658 PMID:25741868 PMID:26182405 PMID:26467025 PMID:26846091 PMID:26903602 PMID:27009121 PMID:28492532 PMID:28762473 PMID:30311386
NCBI chr15:45,422,010...45,472,792
Ensembl chr15:45,422,010...45,464,892
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Rnaseh2c
ribonuclease H2, subunit C
ISO ISS
ClinVar Annotator: match by term: Aicardi Goutieres syndrome OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846
ClinVar MouseDO
PMID:28492532
NCBI chr 1:220,966,626...220,967,717
Ensembl chr 1:220,966,655...220,967,825
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Samhd1
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aicardi Goutieres syndrome
CTD ClinVar
PMID:19525956 PMID:20653736 PMID:21204240 PMID:22461318 PMID:22691373 PMID:22973040 PMID:23364794 PMID:24033266 PMID:25604658 PMID:25741868 PMID:27604406 PMID:28229507 PMID:28492532 PMID:30275001
NCBI chr 3:153,210,829...153,250,705
Ensembl chr 3:153,210,829...153,250,641
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Trex1
three prime repair exonuclease 1
ISO
ClinVar Annotator: match by OMIM:225750 ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME ClinVar Annotator: match by term: Aicardi Goutieres syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:16845398 PMID:23602593 PMID:24033266 PMID:24183309 PMID:25582466 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 8:117,796,127...117,797,427
Ensembl chr 8:117,796,128...117,797,427
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Usp18
ubiquitin specific peptidase 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 4:153,812,312...153,834,374
Ensembl chr 4:153,805,993...153,834,430
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Atrip
ATR interacting protein
ISO
ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1, autosomal dominant
ClinVar
PMID:1821204 PMID:3174024 PMID:16845398 PMID:16960810 PMID:17293595 PMID:17357087 PMID:17440703 PMID:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18805785 PMID:20131292 PMID:20799324 PMID:20871604 PMID:21270825 PMID:21808053 PMID:21937424 PMID:22829693 PMID:23602593 PMID:23881107 PMID:23989343 PMID:24033266 PMID:24088041 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25848017 PMID:25906927 PMID:26150267 PMID:26182405 PMID:26467025 PMID:26633542 PMID:26633545 PMID:26691497 PMID:26938784 PMID:27391121 PMID:28089741 PMID:28492532 PMID:28750028 PMID:29239743 PMID:29387804 PMID:30219631
NCBI chr 8:117,797,954...117,811,989
Ensembl chr 8:117,797,842...117,811,975
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Trex1
three prime repair exonuclease 1
ISO
ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1, autosomal dominant
ClinVar OMIM
PMID:1821204 PMID:3174024 PMID:16845398 PMID:16960810 PMID:17293595 PMID:17357087 PMID:17440703 PMID:17660818 PMID:17660820 PMID:17846997 PMID:18583934 PMID:18805785 PMID:20131292 PMID:20799324 PMID:20871604 PMID:21270825 PMID:21808053 PMID:21937424 PMID:22829693 PMID:23602593 PMID:23881107 PMID:23989343 PMID:24033266 PMID:24088041 PMID:24183309 PMID:24224166 PMID:24300241 PMID:25138095 PMID:25582466 PMID:25604658 PMID:25741868 PMID:25848017 PMID:25906927 PMID:26150267 PMID:26182405 PMID:26467025 PMID:26633542 PMID:26633545 PMID:26691497 PMID:26938784 PMID:27391121 PMID:28089741 PMID:28492532 PMID:28750028 PMID:29239743 PMID:29387804 PMID:30219631
NCBI chr 8:117,796,127...117,797,427
Ensembl chr 8:117,796,128...117,797,427
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Rnaseh2b
ribonuclease H2, subunit B
ISO
ClinVar Annotator: match by term: Aicardi Goutieres syndrome 2
ClinVar OMIM
PMID:16845400 PMID:17846997 PMID:18069026 PMID:18414213 PMID:18754903 PMID:19015152 PMID:19034401 PMID:19694776 PMID:20131292 PMID:21177854 PMID:22149989 PMID:24033266 PMID:24183309 PMID:25243380 PMID:25274781 PMID:25343331 PMID:25500883 PMID:25604658 PMID:25741868 PMID:26182405 PMID:26467025 PMID:26846091 PMID:26903602 PMID:27009121 PMID:28492532 PMID:28762473 PMID:30311386 PMID:32488064
NCBI chr15:45,422,010...45,472,792
Ensembl chr15:45,422,010...45,464,892
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Kat5
lysine acetyltransferase 5
ISO
ClinVar Annotator: match by term: Aicardi Goutieres syndrome 3
ClinVar
NCBI chr 1:220,967,795...220,974,596
Ensembl chr 1:220,967,796...220,974,597
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Rnaseh2c
ribonuclease H2, subunit C
ISO
ClinVar Annotator: match by term: Aicardi Goutieres syndrome 3 ClinVar Annotator: match by OMIM:610329
OMIM ClinVar
PMID:16845400 PMID:17846997 PMID:20131292 PMID:23322642 PMID:25500883 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29150899 PMID:29389947
NCBI chr 1:220,966,626...220,967,717
Ensembl chr 1:220,966,655...220,967,825
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Rnaseh2a
ribonuclease H2, subunit A
ISO
ClinVar Annotator: match by term: Aicardi Goutieres syndrome 4 ClinVar Annotator: match by OMIM:610333
OMIM ClinVar
PMID:15870678 PMID:16845400 PMID:17846997 PMID:20131292 PMID:21454563 PMID:23592335 PMID:24033266 PMID:24183309 PMID:24300241 PMID:25500883 PMID:25604658 PMID:25741868 PMID:26467025 PMID:27943079 PMID:28492532
NCBI chr19:26,074,980...26,084,780
Ensembl chr19:26,074,987...26,084,679
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Samhd1
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
ISO
ClinVar Annotator: match by term: Aicardi Goutieres syndrome 5 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:612952
OMIM ClinVar CTD
PMID:19525956 PMID:20358604 PMID:20653736 PMID:20842748 PMID:21102625 PMID:21204240 PMID:21402907 PMID:22174685 PMID:22461318 PMID:22691373 PMID:22973040 PMID:24033266 PMID:24035396 PMID:24183309 PMID:24316776 PMID:25604658 PMID:25741868 PMID:26467025 PMID:27604406 PMID:28229507 PMID:28492532 PMID:30275001
NCBI chr 3:153,210,829...153,250,705
Ensembl chr 3:153,210,829...153,250,641
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Tldc2
TBC/LysM-associated domain containing 2
ISO
ClinVar Annotator: match by term: Aicardi Goutieres syndrome 5
ClinVar
PMID:28492532
NCBI chr 3:153,195,295...153,208,118
Ensembl chr 3:153,197,644...153,207,816
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Adar
adenosine deaminase, RNA-specific
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6 ClinVar Annotator: match by OMIM:615010
OMIM ClinVar
PMID:9889202 PMID:15955093 PMID:16817193 PMID:19017046 PMID:19060901 PMID:20301648 PMID:22129056 PMID:23001123 PMID:24033266 PMID:24262145 PMID:25243380 PMID:25326637 PMID:25456137 PMID:25604658 PMID:25741868 PMID:26372505 PMID:26629815 PMID:27937139 PMID:28395385 PMID:28492532 PMID:28561207 PMID:29221912 PMID:30311386 PMID:32996714
NCBI chr 2:189,045,551...189,085,448
Ensembl chr 2:189,062,443...189,083,236
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Ifih1
interferon induced with helicase C domain 1
ISO
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7 ClinVar Annotator: match by term: Aicardi-goutieres syndrome 7 ClinVar Annotator: match by OMIM:615846
OMIM ClinVar
PMID:21070929 PMID:24686847 PMID:24995871 PMID:25243380 PMID:25620204 PMID:25741868 PMID:26284909 PMID:28319323 PMID:28492532 PMID:28605144 PMID:29782060 PMID:30219631 PMID:30311386 PMID:30593198 PMID:30965144 PMID:31898846
NCBI chr 3:48,557,696...48,604,097
Ensembl chr 3:48,557,696...48,604,097
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Gnas
GNAS complex locus
ISO
DNA:deletions:exon:multiple DNA:splice-site mutation CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS
OMIM CTD ClinVar
PMID:2109828 PMID:2122458 PMID:8072545 PMID:17299070 PMID:21823526 , PMID:11095461 , PMID:11600516
RGD:11568049 , RGD:11568047
NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483 Ensembl chr 3:172,374,957...172,428,483
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Pthlh
parathyroid hormone-like hormone
ISS
OMIM:103580
MouseDO
NCBI chr 4:181,663,425...181,674,181
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Fam20a
FAM20A, golgi associated secretory pathway pseudokinase
ISO
ClinVar Annotator: match by term: Enamel-renal syndrome ClinVar Annotator: match by term: Amelogenesis imperfecta and gingival fibromatosis syndrome
OMIM ClinVar
PMID:18597613 PMID:21549343 PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868
NCBI chr10:97,962,467...98,017,171
Ensembl chr10:97,962,693...98,018,014
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Prkar1a
protein kinase cAMP-dependent type I regulatory subunit alpha
ISO
ClinVar Annotator: match by term: Enamel-renal syndrome ClinVar Annotator: match by term: Amelogenesis imperfecta and gingival fibromatosis syndrome
ClinVar
PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868
NCBI chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336
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Ager
advanced glycosylation end product-specific receptor
IEP
associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (rat)
RGD
PMID:23497312
RGD:7244260
NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
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Agt
angiotensinogen
IDA
RGD
PMID:23291307
RGD:8549476
NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
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Atp5f1d
ATP synthase F1 subunit delta
treatment
IEP
associated with Hypercholesterolemia
RGD
PMID:26047104
RGD:11057945
NCBI chr 7:12,426,807...12,432,120
Ensembl chr 7:12,426,809...12,432,130
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Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISO
RGD
PMID:15625282
RGD:13204716
NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
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Sod1
superoxide dismutase 1
IEP
associated with Renal Insufficiency, Chronic;mRNA:decreased expression:thoracic aorta
RGD
PMID:25430697
RGD:11038653
NCBI chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
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Sod2
superoxide dismutase 2
IEP
associated with Renal Insufficiency, Chronic;mRNA, protein:decreased expression:thoracic aorta
RGD
PMID:25430697
RGD:11038653
NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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Vkorc1
vitamin K epoxide reductase complex, subunit 1
susceptibility
IAGP
DNA:missense mutation: :p.Y139C (416A>G) (rat)
RGD
PMID:19884975
RGD:2315841
NCBI chr 1:199,338,785...199,341,306
Ensembl chr 1:199,337,138...199,341,302
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Akt1
AKT serine/threonine kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23308213
NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
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Cd40lg
CD40 ligand
treatment
IDA
RGD
PMID:24374105
RGD:11352276
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
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Col5a1
collagen type V alpha 1 chain
ISO
ClinVar Annotator: match by term: AORTIC VALVE, CALCIFICATION OF
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
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Hspd1
heat shock protein family D (Hsp60) member 1
severity
ISO
RGD
PMID:15120829
RGD:12910476
NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956
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Notch1
notch receptor 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: AORTIC VALVE, CALCIFICATION OF
CTD ClinVar
PMID:16025100 PMID:16729972 PMID:24113472 PMID:24728327 PMID:25587027 PMID:25741868 PMID:26188975 PMID:26708639 PMID:26820064 PMID:28492532
NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
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Ptgs2
prostaglandin-endoperoxide synthase 2
disease_progression
ISO
protein: increased expression: aortic valve: endothelial cells, valvular interstitial cells
RGD
PMID:25722432 , PMID:25722432
RGD:13207434 , RGD:13207434
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
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Pth
parathyroid hormone
disease_progression
IEP
protein:increased expression:serum (rat)
RGD
PMID:22634235
RGD:7242900
NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
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Slc20a1
solute carrier family 20 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23308213
NCBI chr 3:121,725,204...121,739,160
Ensembl chr 3:121,725,859...121,739,173
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29358327
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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Abcc6
ATP binding cassette subfamily C member 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25758222
NCBI chr 1:101,954,786...102,013,252
Ensembl chr 1:101,959,540...102,013,243
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Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISO
DNA:missense mutations:cds:p.G342V, p.Y371F (human) CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.V246D (mouse) DNA:mutations:multiple (human) DNA:missense mutations, nonsense mutations, frameshift mutation:cds:multiple (human)
CTD
PMID:15940697 , PMID:23798568 , PMID:20016754 , PMID:12881724
RGD:1601044 , RGD:13204734 , RGD:6906932 , RGD:731203
NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
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Amelx
amelogenin, X-linked
IEP
RGD
PMID:15721149
RGD:1599092
NCBI chr X:26,439,197...26,450,495
Ensembl chr X:26,439,197...26,450,495
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Bglap
bone gamma-carboxyglutamate protein
IEP
RGD
PMID:2106357
RGD:6483581
NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
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Casr
calcium-sensing receptor
ISO
DNA:missense mutation:cds:p.E128A (human) DNA:missense mutation:cds:p.T151M (human) DNA:missense mutation:cds:p.L723Q (mouse) DNA:missense mutations:cds:multiple (human)
RGD
PMID:7874174 , PMID:20501971 , PMID:15347804 , PMID:8813042
RGD:1598940 , RGD:7205656 , RGD:7205497 , RGD:7204717
NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
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Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
ISO
RGD
PMID:11416220
RGD:734871
NCBI chr 7:70,333,150...70,340,006
Ensembl chr 7:70,335,061...70,340,005
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Pth
parathyroid hormone
IEP
protein:increased expression:serum (rat)
RGD
PMID:22581996
RGD:7242904
NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
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Casr
calcium-sensing receptor
ISO
ClinVar Annotator: match by OMIM:601198 ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1 ClinVar Annotator: match by term: HYPOPARATHYROIDISM, AUTOSOMAL DOMINANT
ClinVar OMIM
PMID:1706284 PMID:7874174 PMID:8636323 PMID:8698326 PMID:8702647 PMID:8733126 PMID:8813042 PMID:9253358 PMID:9661634 PMID:9920108 PMID:10023897 PMID:10217111 PMID:10487661 PMID:10770217 PMID:10912749 PMID:11134112 PMID:11136551 PMID:11152759 PMID:11161843 PMID:11248745 PMID:11580999 PMID:11701698 PMID:11733622 PMID:11807402 PMID:12018449 PMID:12040821 PMID:12050233 PMID:12052452 PMID:12067826 PMID:12107202 PMID:12191970 PMID:12239240 PMID:12241879 PMID:12574188 PMID:12574201 PMID:12733714 PMID:12915654 PMID:14508624 PMID:14519094 PMID:14997007 PMID:15531522 PMID:15598778 PMID:15864123 PMID:15879434 PMID:16497624 PMID:16608894 PMID:17018660 PMID:17039419 PMID:17117288 PMID:17309124 PMID:17320849 PMID:17332735 PMID:17555508 PMID:17698911 PMID:18328986 PMID:18680227 PMID:18756473 PMID:19694204 PMID:20119591 PMID:20164288 PMID:20602573 PMID:20668040 PMID:21414629 PMID:21521328 PMID:21645025 PMID:22024717 PMID:22192860 PMID:22422767 PMID:22789683 PMID:24033266 PMID:24133354 PMID:24297799 PMID:24823460 PMID:25137426 PMID:25292184 PMID:25326635 PMID:25705702 PMID:25741868 PMID:26107257 PMID:26166472 PMID:26467025 PMID:26646938 PMID:27157104 PMID:27957351 PMID:28492532 PMID:29846619
NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
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Gna11
G protein subunit alpha 11
ISO
ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 2 ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM ClinVar
PMID:6278146 PMID:23802536 PMID:24823460
NCBI chr 7:11,033,400...11,047,284
Ensembl chr 7:11,033,317...11,047,437
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Casr
calcium-sensing receptor
ISO
ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1, with bartter syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:11152759 PMID:12107202 PMID:12191970 PMID:12241879 PMID:15005845 PMID:17048213 PMID:25741868
NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
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Fgf23
fibroblast growth factor 23
ISO
DNA:missense mutations:exon:p.R176Q (527G>A), p.R179W (535C>T), p.R179Q (536G>A) (human) ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant DNA:missense mutation:cds:526C>T,p.R176W (human) ClinVar Annotator: match by OMIM:193100
ClinVar OMIM
PMID:1353055 PMID:5173181 PMID:9024275 PMID:11062477 PMID:11409890 PMID:11737582 PMID:11805436 PMID:12050201 PMID:12130585 PMID:12711740 PMID:12851820 PMID:12874285 PMID:15182416 PMID:15590700 PMID:15628294 PMID:15836777 PMID:15885032 PMID:16436388 PMID:17227222 PMID:17452648 PMID:17623664 PMID:17992255 PMID:18682534 PMID:18982401 PMID:21880793 PMID:22419710 PMID:24033266 PMID:25445451 PMID:26186302 PMID:26467025 PMID:28492532 , PMID:11062477 , PMID:19655082
RGD:1598933 , RGD:10044239
NCBI chr 4:159,622,404...159,630,082
Ensembl chr 4:159,622,404...159,630,082
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Dmp1
dentin matrix acidic phosphoprotein 1
ISO ISS
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive OMIM:241520 | OMIM:613312
ClinVar MouseDO
NCBI chr14:6,889,851...6,923,961
Ensembl chr14:6,889,856...6,900,733
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Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISO ISS
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive OMIM:241520 | OMIM:613312
ClinVar MouseDO
PMID:24033266 PMID:28492532
NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
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Pdgfb
platelet derived growth factor subunit B
ISS
OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483
MouseDO
NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
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Pdgfrb
platelet derived growth factor receptor beta
ISS
OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483
MouseDO
NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
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Slc20a2
solute carrier family 20 member 2
ISS
OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483
MouseDO
NCBI chr16:74,318,287...74,408,030
Ensembl chr16:74,317,899...74,408,030
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Spg11
SPG11 vesicle trafficking associated, spatacsin
ISO
ClinVar Annotator: match by term: Basal ganglia calcification
ClinVar
PMID:28492532 PMID:30311386
NCBI chr 3:113,999,600...114,064,438
Ensembl chr 3:113,999,719...114,065,170
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Twist1
twist family bHLH transcription factor 1
ISO
ClinVar Annotator: match by term: Basal ganglia calcification
ClinVar
PMID:30311386
NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214
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Ahsg
alpha-2-HS-glycoprotein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16177000
NCBI chr11:81,711,269...81,717,594
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Alpl
alkaline phosphatase, biomineralization associated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21193197
NCBI chr 5:156,086,496...156,141,513
Ensembl chr 5:156,086,497...156,141,537
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Bglap
bone gamma-carboxyglutamate protein
ISO
associated with hypertension;protein:undercarboxylated:serum CTD Direct Evidence: marker/mechanism protein:increased expression:dermis:
CTD
PMID:21335463 , PMID:20197689 , PMID:18422975
RGD:6483566 , RGD:9068449
NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
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Bmp2
bone morphogenetic protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30963258 PMID:31843813
NCBI chr 3:126,335,963...126,346,771
Ensembl chr 3:126,335,863...126,346,318
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Bmp4
bone morphogenetic protein 4
ISO
protein:increased expression:dermis:
RGD
PMID:18422975
RGD:9068449
NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
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C6
complement C6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21335463
NCBI chr 2:54,460,333...54,533,801
Ensembl chr 2:54,466,280...54,533,797
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Casp3
caspase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21335463
NCBI chr16:48,845,011...48,863,249
Ensembl chr16:48,845,012...48,863,204
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Ccl2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21193197 PMID:21335463
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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Ccl6
C-C motif chemokine ligand 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21335463
NCBI chr10:70,798,118...70,802,750
Ensembl chr10:70,797,124...70,802,782
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Col18a1
collagen type XVIII alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21335463
NCBI chr20:12,225,202...12,332,858
Ensembl chr20:12,225,202...12,332,858
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Col1a1
collagen type I alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21335463
NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
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Ctc1
CST telomere replication complex component 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22267198
NCBI chr10:55,596,172...55,616,873
Ensembl chr10:55,596,148...55,616,889
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Ctnnb1
catenin beta 1
ISO
protein:increased expression:dermis:
RGD
PMID:18422975
RGD:9068449
NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
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Dmd
dystrophin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18340010
NCBI chr X:51,149,358...53,519,271
Ensembl chr X:51,286,737...53,519,259
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Epo
erythropoietin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12148126
NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
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Erbb2
erb-b2 receptor tyrosine kinase 2
ISO
associated with Breast Neoplasms;protein:increased expression:breast
RGD
PMID:18256879
RGD:2289923
NCBI chr10:86,367,596...86,391,728
Ensembl chr10:86,367,596...86,391,728
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Fcgr1a
Fc fragment of IgG receptor Ia
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21335463
NCBI chr 2:198,430,536...198,439,453
Ensembl chr 2:198,430,530...198,458,041
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Fgf23
fibroblast growth factor 23
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17710231
NCBI chr 4:159,622,404...159,630,082
Ensembl chr 4:159,622,404...159,630,082
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Galnt3
polypeptide N-acetylgalactosaminyltransferase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17710231
NCBI chr 3:52,174,469...52,212,395
Ensembl chr 3:52,175,547...52,212,412
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Gpx1
glutathione peroxidase 1
susceptibility
ISO
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.P197L (human)
RGD
PMID:17825092
RGD:2306608
NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
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Il18
interleukin 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21335463
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21335463
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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Itgb1
integrin subunit beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18340010
NCBI chr19:61,677,512...61,725,537
Ensembl chr19:61,677,542...61,725,535
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Itgb2
integrin subunit beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21335463
NCBI chr20:11,777,773...11,815,647
Ensembl chr20:11,777,783...11,815,647
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Jak2
Janus kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21335463
NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
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Kl
Klotho
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17710231
NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
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Lcn2
lipocalin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21335463
NCBI chr 3:11,414,189...11,417,534
Ensembl chr 3:11,414,186...11,417,546
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Lsp1
lymphocyte-specific protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21335463
NCBI chr 1:215,628,750...215,662,505
Ensembl chr 1:215,628,785...215,662,504
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Ly86
lymphocyte antigen 86
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21335463
NCBI chr17:28,104,535...28,191,447
Ensembl chr17:28,104,589...28,191,436
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Mgp
matrix Gla protein
ISO
RGD
PMID:15045141
RGD:1582501
NCBI chr 4:170,856,783...170,860,105
Ensembl chr 4:170,856,751...170,860,225
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Mmp2
matrix metallopeptidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15545515 PMID:21193197
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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Mmp9
matrix metallopeptidase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15545515 PMID:21193197
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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Notch1
notch receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22110751
NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
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Nr1i2
nuclear receptor subfamily 1, group I, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30963258
NCBI chr11:65,022,100...65,058,546
Ensembl chr11:65,022,100...65,058,545
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Pdgfb
platelet derived growth factor subunit B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25938945
NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
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Pdgfrb
platelet derived growth factor receptor beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25938945
NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6143199
NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
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Ptpn6
protein tyrosine phosphatase, non-receptor type 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21335463
NCBI chr 4:157,239,141...157,263,890
Ensembl chr 4:157,239,142...157,263,890
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Pycard
PYD and CARD domain containing
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21335463
NCBI chr 1:199,438,029...199,439,062
Ensembl chr 1:199,437,832...199,439,210
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Ripk3
receptor-interacting serine-threonine kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21335463
NCBI chr15:34,470,796...34,479,741
Ensembl chr15:34,470,796...34,479,741
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Slc20a2
solute carrier family 20 member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25938945
NCBI chr16:74,318,287...74,408,030
Ensembl chr16:74,317,899...74,408,030
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Slc22a6
solute carrier family 22 member 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12803500
NCBI chr 1:224,824,809...224,833,284
Ensembl chr 1:224,824,799...224,833,259
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Snai2
snail family transcriptional repressor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29358327
NCBI chr11:90,404,421...90,406,730
Ensembl chr11:90,403,333...90,406,797
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Sparc
secreted protein acidic and cysteine rich
ISO
protein:increased expression:dermis:
RGD
PMID:18422975
RGD:9068449
NCBI chr10:40,742,390...40,764,232
Ensembl chr10:40,742,400...40,764,185
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Spn
sialophorin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21335463
NCBI chr 1:198,572,999...198,585,664
Ensembl chr 1:198,572,999...198,577,226
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Spp1
secreted phosphoprotein 1
IEP ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:dermis:
CTD
PMID:21193197 PMID:21335463 , PMID:18390899 , PMID:18422975
RGD:6903869 , RGD:9068449
NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24142982
NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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Timp1
TIMP metallopeptidase inhibitor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21335463
NCBI chr X:1,364,771...1,369,451
Ensembl chr X:1,364,786...1,369,384
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Timp2
TIMP metallopeptidase inhibitor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24142982
NCBI chr10:107,338,465...107,386,072
Ensembl chr10:107,338,465...107,386,072
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30963258
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29358327
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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Xpr1
xenotropic and polytropic retrovirus receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25938945
NCBI chr13:72,918,552...73,056,785
Ensembl chr13:72,918,490...73,056,875
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Ctc1
CST telomere replication complex component 1
ISO
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:22267198 PMID:22387016 PMID:23869908 PMID:24033266 PMID:25182133 PMID:25741868 PMID:28492532
NCBI chr10:55,596,172...55,616,873
Ensembl chr10:55,596,148...55,616,889
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Stn1
STN1 subunit of CST complex
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:267,281,786...267,315,714
Ensembl chr 1:267,281,764...267,315,729
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Ctc1
CST telomere replication complex component 1
ISO
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1
OMIM ClinVar
PMID:16943371 PMID:18076099 PMID:22267198 PMID:22387016 PMID:22532422 PMID:22899577 PMID:23869908 PMID:24033266 PMID:24115768 PMID:25182133 PMID:25741868 PMID:28492532 PMID:29228254 PMID:29481669
NCBI chr10:55,596,172...55,616,873
Ensembl chr10:55,596,148...55,616,889
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Pfas
phosphoribosylformylglycinamidine synthase
ISO
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:55,571,881...55,593,384
Ensembl chr10:55,571,118...55,589,978
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Stn1
STN1 subunit of CST complex
ISO
ClinVar Annotator: match by term: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2
ClinVar OMIM
PMID:27432940
NCBI chr 1:267,281,786...267,315,714
Ensembl chr 1:267,281,764...267,315,729
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Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Cole disease ClinVar Annotator: match by OMIM:615522
OMIM ClinVar
PMID:19380683 PMID:24075184 PMID:25741868
NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
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Tnfrsf11b
TNF receptor superfamily member 11B
severity
ISO
associated with Kidney Failure, Chronic
RGD
PMID:22943310
RGD:7205482
NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
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Cenpc
centromere protein C
ISO
associated with Anticentromere antibody positivity
RGD
PMID:25220385
RGD:27372886
NCBI chr14:23,611,909...23,670,314
Ensembl chr14:23,611,735...23,670,475
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Fbn1
fibrillin 1
ISO
RGD
PMID:10395706
RGD:12910471
NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
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Slc29a1
solute carrier family 29 member 1
ISS
OMIM:106400
MouseDO
NCBI chr 9:17,784,468...17,799,008
Ensembl chr 9:17,784,468...17,799,005
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Casr
calcium-sensing receptor
ISO
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar
PMID:791660 PMID:1302026 PMID:1889203 PMID:7054696 PMID:7717399 PMID:7726161 PMID:7791841 PMID:7874174 PMID:7916660 PMID:8132750 PMID:8636323 PMID:8675635 PMID:8702647 PMID:8733126 PMID:8878438 PMID:9011580 PMID:9039332 PMID:9109436 PMID:9217223 PMID:9253359 PMID:9395465 PMID:9422777 PMID:10077597 PMID:10468915 PMID:10488104 PMID:10843194 PMID:10885494 PMID:10912782 PMID:10971459 PMID:11102444 PMID:11762699 PMID:11763315 PMID:11807402 PMID:11889203 PMID:12095982 PMID:12114500 PMID:12580936 PMID:12890593 PMID:14714270 PMID:15551332 PMID:15572418 PMID:15591042 PMID:15751724 PMID:15879434 PMID:15963484 PMID:16491288 PMID:16497624 PMID:16598859 PMID:16649980 PMID:16740594 PMID:16918956 PMID:17284438 PMID:17320849 PMID:17478419 PMID:17555508 PMID:17698911 PMID:17803689 PMID:17974727 PMID:18219222 PMID:18410554 PMID:18680227 PMID:18751724 PMID:18756473 PMID:18796518 PMID:18830196 PMID:19073830 PMID:19179454 PMID:19389809 PMID:19759318 PMID:19763152 PMID:20034274 PMID:20164288 PMID:20307669 PMID:20374733 PMID:20798521 PMID:20972686 PMID:21175100 PMID:21239511 PMID:21289269 PMID:21414629 PMID:21521328 PMID:21645025 PMID:22142470 PMID:22187299 PMID:22192860 PMID:22232026 PMID:22331334 PMID:22406018 PMID:22422767 PMID:22798347 PMID:23077345 PMID:23169696 PMID:23265383 PMID:23372019 PMID:23764372 PMID:23966241 PMID:24133354 PMID:24203066 PMID:24394414 PMID:24735972 PMID:24763815 PMID:24854525 PMID:24947037 PMID:25091521 PMID:25104082 PMID:25292184 PMID:25741868 PMID:25765207 PMID:25828954 PMID:26161261 PMID:26166472 PMID:26290606 PMID:26467025 PMID:26646938 PMID:26855056 PMID:26963950 PMID:27086061 PMID:27157104 PMID:27434672 PMID:27666534 PMID:27957351 PMID:28176280 PMID:28492532 PMID:29026550 PMID:29846619 PMID:30019023 PMID:30052933 PMID:30311386 PMID:31672324
NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
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Casr
calcium-sensing receptor
ISO
ClinVar Annotator: match by term: Hypocalciuric hypercalcemia, familial, type 1 ClinVar Annotator: match by term: Hypercalcemia, familial benign type 1 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:145980 ClinVar Annotator: match by null DNA:missense mutation:cds:p.A213E (human) DNA:missense mutations:cds:multiple (human) DNA:missense mutations:cds:p.R186E, p.E298K, p.R796W (human)
ClinVar CTD OMIM
PMID:791660 PMID:1302026 PMID:1706284 PMID:2211966 PMID:3966479 PMID:5013415 PMID:6543841 PMID:7054696 PMID:7673400 PMID:7717399 PMID:7726161 PMID:7791841 PMID:7874174 PMID:7916660 PMID:8636323 PMID:8675635 PMID:8702647 PMID:8878438 PMID:9011580 PMID:9109436 PMID:9422777 PMID:10023897 PMID:10077597 PMID:10217111 PMID:10468915 PMID:10843194 PMID:10912749 PMID:10912782 PMID:11102444 PMID:11134112 PMID:11161843 PMID:11231970 PMID:11248745 PMID:11580999 PMID:11668634 PMID:11733622 PMID:11762699 PMID:11807402 PMID:11889203 PMID:12018449 PMID:12040821 PMID:12052452 PMID:12095982 PMID:12114500 PMID:12239240 PMID:12469911 PMID:12574201 PMID:12890593 PMID:14089114 PMID:14508624 PMID:14997007 PMID:15241688 PMID:15292296 PMID:15531522 PMID:15572418 PMID:15579740 PMID:15598778 PMID:15751724 PMID:15864123 PMID:15879434 PMID:16491288 PMID:16497624 PMID:16598859 PMID:16642557 PMID:17018660 PMID:17117288 PMID:17284438 PMID:17309124 PMID:17320849 PMID:17332735 PMID:17473068 PMID:17555508 PMID:17698911 PMID:18328986 PMID:18680227 PMID:18751724 PMID:18756473 PMID:18887540 PMID:18938753 PMID:19179454 PMID:19389809 PMID:19423559 PMID:19694204 PMID:19759318 PMID:20164288 PMID:20290361 PMID:20602573 PMID:20798521 PMID:21239511 PMID:21289269 PMID:21414629 PMID:21521328 PMID:21645025 PMID:22024717 PMID:22192860 PMID:22422767 PMID:22798347 PMID:23077345 PMID:23966241 PMID:24033266 PMID:24133354 PMID:24203066 PMID:24297799 PMID:25091521 PMID:25292184 PMID:25705702 PMID:25741868 PMID:25766501 PMID:26107257 PMID:26161261 PMID:26166472 PMID:26467025 PMID:26646938 PMID:26963950 PMID:27157104 PMID:27390877 PMID:27434672 PMID:27666534 PMID:27957351 PMID:28176280 PMID:28492532 PMID:29846619 PMID:30311386 , PMID:7493018 , PMID:21034470 , PMID:7726161 , PMID:7916660
RGD:7205436 , RGD:7205499 , RGD:7205440 , RGD:1600616
NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
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Gna11
G protein subunit alpha 11
ISO
ClinVar Annotator: match by term: Hypocalciuric hypercalcemia, familial, type II
OMIM ClinVar
NCBI chr 7:11,033,400...11,047,284
Ensembl chr 7:11,033,317...11,047,437
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Ap2s1
adaptor related protein complex 2 subunit sigma 1
ISO
ClinVar Annotator: match by term: Hypocalciuric hypercalcemia, familial, type III CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1524075 PMID:20133464 PMID:23222959 PMID:24081735 PMID:24731014 PMID:25741868 PMID:26082470 PMID:27050234 PMID:27761240 PMID:27913609 PMID:28492532 PMID:29325022 PMID:29420171
NCBI chr 1:78,671,238...78,682,847
Ensembl chr 1:78,671,121...78,682,871
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Clcn5
chloride voltage-gated channel 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr X:16,170,585...16,196,691
Ensembl chr X:16,050,780...16,196,789
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Phex
phosphate regulating endopeptidase homolog, X-linked
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets
CTD ClinVar
PMID:3414685 PMID:9097956 PMID:9199930 PMID:9430241 PMID:11414762 PMID:11468271 PMID:12727977 PMID:18625346 PMID:18775977 PMID:24684036 PMID:25741868 PMID:28492532 PMID:29858904
NCBI chr X:40,460,047...40,717,982
Ensembl chr X:40,460,047...40,717,982
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Phyh
phytanoyl-CoA 2-hydroxylase
ISO
ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT
ClinVar
PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 PMID:28492532
NCBI chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530
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Vdr
vitamin D receptor
ISO
ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT
ClinVar
PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 PMID:2849209 PMID:3024987 PMID:8392085 PMID:8675579 PMID:8862631 PMID:8961271 PMID:9005998 PMID:9360557 PMID:9495519 PMID:10707958 PMID:11564167 PMID:17130574 PMID:17371163 PMID:17970811 PMID:18159135 PMID:18279374 PMID:18593774 PMID:19682379 PMID:20200114 PMID:21168462 PMID:21931507 PMID:22992668 PMID:23180655 PMID:24033266 PMID:24073221 PMID:25741868 PMID:26177022 PMID:26198224 PMID:26590811 PMID:26631034 PMID:26911666 PMID:27164139 PMID:27607899 PMID:27778467 PMID:28492532
NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1
OMIM ClinVar
PMID:8960499 PMID:10480624 PMID:11159191 PMID:11739459 PMID:12881724 PMID:14671192 PMID:14988267 PMID:15001634 PMID:15126519 PMID:15605415 PMID:15677494 PMID:15940697 PMID:16025115 PMID:16315058 PMID:16607460 PMID:16968801 PMID:19206175 PMID:19229237 PMID:20016754 PMID:20137773 PMID:22209248 PMID:24033266 PMID:25326635 PMID:25741868 PMID:27467858 PMID:28492532 PMID:29141319
NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
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Abcc6
ATP binding cassette subfamily C member 6
ISO
ClinVar Annotator: match by term: Generalized arterial calcification of infancy 2 ClinVar Annotator: match by OMIM:614473
OMIM ClinVar
PMID:10811882 PMID:11179012 PMID:11439001 PMID:11536079 PMID:12176944 PMID:12384774 PMID:12714611 PMID:16086317 PMID:16541094 PMID:16573612 PMID:18800149 PMID:20034067 PMID:22209248 PMID:24088041 PMID:25264593 PMID:25741868 PMID:26633545 PMID:28102862 PMID:30311386
NCBI chr 1:101,954,786...102,013,252
Ensembl chr 1:101,959,540...102,013,243
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Lbr
lamin B receptor
ISO
ClinVar Annotator: match by term: Greenberg dysplasia ClinVar Annotator: match by OMIM:215140 DNA:mutations:cds:multiple (human)
OMIM ClinVar
PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:24033266 PMID:25348816 PMID:25741868 PMID:26467025 PMID:27336722 PMID:27830109 PMID:27875746 PMID:28492532 PMID:30311386 , PMID:21327084
RGD:9588626
NCBI chr13:100,431,390...100,450,209
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Jam3
junctional adhesion molecule 3
ISO
ClinVar Annotator: match by term: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts ClinVar Annotator: match by OMIM:613730
OMIM ClinVar
PMID:21109224 PMID:23255084 PMID:25741868 PMID:25741869 PMID:32860008
NCBI chr 8:28,147,110...28,208,466
Ensembl chr 8:28,147,111...28,208,466
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Nt5e
5' nucleotidase, ecto
ISO
ClinVar Annotator: match by OMIM:211800
OMIM ClinVar
PMID:21288095
NCBI chr 8:95,969,002...96,012,733
Ensembl chr 8:95,968,652...96,012,696
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Tnfrsf11b
TNF receptor superfamily member 11B
ISO
associated with Diabetes Mellitus, Type 2;protein:increased expression:serum
RGD
PMID:22386825
RGD:7205494
NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
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Pth
parathyroid hormone
ISO
protein:decreased expression:plasma (mouse)
RGD
PMID:19570882
RGD:7242924
NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
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Slc34a1
solute carrier family 34 member 1
ISO ISS
OMIM:241530 DNA:deletions, snps:multiple (human)
MouseDO
PMID:19570882 , PMID:16358215
RGD:7242924 , RGD:7242925
NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
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Slc34a3
solute carrier family 34 member 3
ISO
ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria ClinVar Annotator: match by term: HYPERCALCIURIC RICKETS ClinVar Annotator: match by OMIM:241530
OMIM ClinVar
PMID:2983203 PMID:16358214 PMID:16358215 PMID:16849419 PMID:18523928 PMID:18996815 PMID:19820004 PMID:20074341 PMID:21344632 PMID:22159077 PMID:24246249 PMID:25741868 PMID:26399350 PMID:26789268 PMID:28492532 PMID:29809158 PMID:33223529
NCBI chr 3:2,448,391...2,454,019
Ensembl chr 3:2,448,381...2,453,933
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Calca
calcitonin-related polypeptide alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1115441 PMID:12637657
NCBI chr 1:184,184,018...184,188,922
Ensembl chr 1:184,184,020...184,188,911
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Calcr
calcitonin receptor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18627265
NCBI chr 4:28,627,439...28,702,559
Ensembl chr 4:28,627,442...28,702,559
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Casr
calcium-sensing receptor
ISO
ClinVar Annotator: match by term: Hypercalcemia CTD Direct Evidence: marker/mechanism DNA:missense mutations:cds:p.R990G, p.E1011Q (human)
ClinVar CTD
PMID:7874174 PMID:7916660 PMID:9011580 PMID:9422777 PMID:10077597 PMID:10912782 PMID:11102444 PMID:11889203 PMID:12095982 PMID:12114500 PMID:17284438 PMID:19389809 PMID:21239511 PMID:23077345 PMID:26467025 PMID:28492532 PMID:30311386 , PMID:12671052 , PMID:20602573
RGD:734698 , RGD:7205445
NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
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Cyp24a1
cytochrome P450, family 24, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22337913
NCBI chr 3:168,097,484...168,111,920
Ensembl chr 3:168,097,485...168,111,920
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Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20427501
NCBI chr 7:70,333,150...70,340,006
Ensembl chr 7:70,335,061...70,340,005
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10638776
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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Kl
Klotho
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17710231
NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
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Pth
parathyroid hormone
IDA ISO
associated with Kidney Failure, Chronic CTD Direct Evidence: marker/mechanism
CTD
PMID:4004906 PMID:7891547 PMID:9382671 PMID:10638776 PMID:12399635 PMID:17164314 , PMID:23261531
RGD:7242689
NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
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Pth1r
parathyroid hormone 1 receptor
IDA
protein:increased expression:odontoblast; associated with neoplasms
RGD
PMID:16036863
RGD:1599980
NCBI chr 8:118,984,531...119,012,803
Ensembl chr 8:118,988,053...119,012,671
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Pthlh
parathyroid hormone-like hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3616618 PMID:10638776 PMID:11054717 PMID:12358896
NCBI chr 4:181,663,425...181,674,181
G
Slc34a1
solute carrier family 34 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9560283
NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10638776
NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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Tnfrsf11b
TNF receptor superfamily member 11B
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15845617
NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
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Tnfsf11
TNF superfamily member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15845617
NCBI chr15:60,482,527...60,512,704
Ensembl chr15:60,482,527...60,512,704
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Cyp24a1
cytochrome P450, family 24, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Idiopathic hypercalcemia of infancy ClinVar Annotator: match by term: Hypercalcemia, infantile, 1
ClinVar OMIM
PMID:3490596 PMID:19961857 PMID:21675912 PMID:22047571 PMID:22100522 PMID:22112808 PMID:23001465 PMID:23293122 PMID:23423976 PMID:23470222 PMID:23485543 PMID:24033266 PMID:24518185 PMID:25194629 PMID:25375986 PMID:25446019 PMID:25741868 PMID:26097993 PMID:26117226 PMID:26214117 PMID:26846157 PMID:27394135 PMID:27798933 PMID:28109821 PMID:28470390 PMID:28492532
NCBI chr 3:168,097,484...168,111,920
Ensembl chr 3:168,097,485...168,111,920
G
Kl
Klotho
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20394945
NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
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Slc34a1
solute carrier family 34 member 1
ISO
ClinVar Annotator: match by term: Idiopathic hypercalcemia of infancy
ClinVar
PMID:24033266
NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
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Slc34a1
solute carrier family 34 member 1
ISO
ClinVar Annotator: match by term: Hypercalcemia, infantile, 2
ClinVar OMIM
PMID:20466674 PMID:25741868 PMID:26047794 PMID:26787776 PMID:28492532 PMID:28893421
NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
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Casr
calcium-sensing receptor
no_association susceptibility
ISO IEP
associated with Nephrolithiasis, Calcium Oxalate; DNA:missense mutations:cds:p.A986S, p.R990G, p.E1011Q (human) DNA:missense mutation: :p.E1011Q (human) mRNA, protein:increased expression:kidney (rat) associated with Nephrolithiasis, Calcium Oxalate; DNA:missense mutation:cds:p.R990G (human)
RGD
PMID:19887834 , PMID:20602573 , PMID:22137721 , PMID:12239240
RGD:7205502 , RGD:7205445 , RGD:7205675 , RGD:7205666
NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
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Cldn16
claudin 16
ISO
ClinVar Annotator: match by term: Hypercalciuria, childhood, self-limiting
ClinVar
PMID:14628289
NCBI chr11:77,683,942...77,703,232
Ensembl chr11:77,681,794...77,703,255
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Cyp24a1
cytochrome P450, family 24, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22337913
NCBI chr 3:168,097,484...168,111,920
Ensembl chr 3:168,097,485...168,111,920
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1324751 PMID:3017235
NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
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Pth
parathyroid hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17164314
NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
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Slc34a1
solute carrier family 34 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9560283 , PMID:21784483
RGD:7242936
NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
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Slc34a3
solute carrier family 34 member 3
ISO
ClinVar Annotator: match by term: Hypercalciuria
ClinVar
NCBI chr 3:2,448,391...2,454,019
Ensembl chr 3:2,448,381...2,453,933
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Vdr
vitamin D receptor
IEP
protein:increased expression:kidney, small intestine
RGD
PMID:19929616
RGD:4889914
NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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Adcy10
adenylate cyclase 10
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr13:83,701,952...83,787,010
Ensembl chr13:83,721,300...83,787,018
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Kl
Klotho
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20394945
NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
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Fgf23
fibroblast growth factor 23
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, familial, hyperphosphatemic
ClinVar
PMID:15590700 PMID:15687325 PMID:18682534 PMID:19837926 PMID:24033266 PMID:25326637 PMID:29389098
NCBI chr 4:159,622,404...159,630,082
Ensembl chr 4:159,622,404...159,630,082
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Galnt3
polypeptide N-acetylgalactosaminyltransferase 3
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, familial, hyperphosphatemic CTD Direct Evidence: marker/mechanism
ClinVar CTD
NCBI chr 3:52,174,469...52,212,395
Ensembl chr 3:52,175,547...52,212,412
G
Kl
Klotho
ISO ISS
ClinVar Annotator: match by term: Tumoral calcinosis, familial, hyperphosphatemic OMIM:211900
ClinVar MouseDO
NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
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Acrbp
acrosin binding protein
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,563,990...157,577,045
Ensembl chr 4:157,563,990...157,568,023
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Acsm4
acyl-CoA synthetase medium-chain family member 4
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 1:189,432,604...189,458,799
Ensembl chr 1:189,432,604...189,457,048
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Adipor2
adiponectin receptor 2
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:151,412,135...151,480,108
Ensembl chr 4:151,414,684...151,428,894
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Aicda
activation-induced cytidine deaminase
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:155,359,909...155,371,104
Ensembl chr 4:155,359,921...155,369,671
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Akap3
A-kinase anchoring protein 3
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,399,686...159,425,512
Ensembl chr 4:159,403,501...159,425,629
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Ano2
anoctamin 2
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:158,222,650...158,577,595
Ensembl chr 4:158,224,000...158,576,978
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Apobec1
apolipoprotein B mRNA editing enzyme catalytic subunit 1
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:155,386,367...155,414,034
Ensembl chr 4:155,386,711...155,401,480
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Atn1
atrophin 1
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,267,394...157,281,199
Ensembl chr 4:157,267,901...157,274,755 Ensembl chr 9:157,267,901...157,274,755
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B4galnt3
beta-1,4-N-acetyl-galactosaminyl transferase 3
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:152,736,036...152,835,521
Ensembl chr 4:152,737,161...152,835,182
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C1r
complement C1r
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,126,060...157,136,825
Ensembl chr 4:157,125,998...157,136,829
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C1rl
complement C1r subcomponent like
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,108,190...157,122,689
Ensembl chr 4:157,107,469...157,123,446
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C1s
complement C1s
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,143,592...157,155,592
Ensembl chr 4:157,143,592...157,155,609
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C3ar1
complement C3a receptor 1
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:155,681,767...155,691,240
Ensembl chr 4:155,684,029...155,690,869
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Cacna1c
calcium voltage-gated channel subunit alpha1 C
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:150,635,808...151,270,790
Ensembl chr 4:150,641,066...150,829,913
G
Cacna2d4
calcium voltage-gated channel auxiliary subunit alpha2delta 4
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:151,298,548...151,409,263
Ensembl chr 4:151,298,548...151,409,263
G
Ccdc77
coiled-coil domain containing 77
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:152,860,669...152,892,518
Ensembl chr 4:152,860,675...152,883,210
G
Ccnd2
cyclin D2
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,674,885...159,697,207
Ensembl chr 4:159,674,885...159,697,207
G
Cd163
CD163 molecule
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:156,752,063...156,785,467
Ensembl chr 4:156,752,082...156,785,467
G
Cd27
CD27 molecule
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,744,881...157,751,609
Ensembl chr 4:157,744,882...157,750,088
G
Cd4
Cd4 molecule
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,381,862...157,408,357
Ensembl chr 4:157,383,052...157,408,176
G
Cd9
CD9 molecule
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,977,163...158,010,091
Ensembl chr 4:157,977,162...158,010,166
G
Cdca3
cell division cycle associated 3
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,347,876...157,351,889
Ensembl chr 4:157,348,020...157,351,604
G
Chd4
chromodomain helicase DNA binding protein 4
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,612,531...157,645,660
Ensembl chr 4:157,612,536...157,645,659
G
Clec4a
C-type lectin domain family 4, member A
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:156,049,800...156,069,260
Ensembl chr 4:156,050,054...156,069,313
G
Clec4a1
C-type lectin domain family 4, member A1
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:155,947,794...155,959,909
Ensembl chr 4:155,947,453...155,959,993
G
Clec4a3
C-type lectin domain family 4, member A3
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:155,913,366...155,923,079
Ensembl chr 4:155,913,366...155,923,079
G
Clec4b2
C-type lectin domain family 4, member B2
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:156,107,720...156,131,226
Ensembl chr 4:156,107,620...156,131,583
G
Clec4d
C-type lectin domain family 4, member D
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:156,253,084...156,264,766
Ensembl chr 4:156,253,079...156,264,769
G
Clec4e
C-type lectin domain family 4, member E
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:156,271,087...156,276,243
Ensembl chr 4:156,270,920...156,276,304
G
Clstn3
calsyntenin 3
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,044,736...157,078,013
Ensembl chr 4:157,043,925...157,078,130
G
Cops7a
COP9 signalosome subunit 7A
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,479,549...157,486,944
Ensembl chr 4:157,479,549...157,486,914
G
Cracr2a
calcium release activated channel regulator 2A
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:160,143,160...160,238,744
Ensembl chr 4:160,168,297...160,194,038
G
Dcp1b
decapping mRNA 1B
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:151,249,654...151,287,018
Ensembl chr 4:151,250,041...151,285,702
G
Dppa3
developmental pluripotency-associated 3
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:155,437,675...155,441,059
Ensembl chr 3:111,298,713...111,299,189 Ensembl chr 4:111,298,713...111,299,189
G
Dyrk4
dual specificity tyrosine phosphorylation regulated kinase 4
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,426,447...159,467,973
Ensembl chr 4:159,427,340...159,467,955
G
Emg1
EMG1 N1-specific pseudouridine methyltransferase
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,222,366...157,230,647
Ensembl chr 4:157,222,385...157,230,647
G
Eno2
enolase 2
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,285,192...157,294,090
Ensembl chr 4:157,285,179...157,294,047
G
Erc1
ELKS/RAB6-interacting/CAST family member 1
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:152,087,393...152,380,023
Ensembl chr 4:152,087,379...152,380,184
G
Fam90a1
family with sequence similarity 90, member A1
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr16:75,001,033...75,016,173
G
Fbxl14
F-box and leucine-rich repeat protein 14
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:151,986,890...151,990,706
G
Fgf23
fibroblast growth factor 23
ISO
ClinVar Annotator: match by term: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:15590700 PMID:15687325 PMID:18682534 PMID:19837926 PMID:24033266 PMID:25378588 PMID:29389098
NCBI chr 4:159,622,404...159,630,082
Ensembl chr 4:159,622,404...159,630,082
G
Fgf6
fibroblast growth factor 6
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,563,798...159,572,333
Ensembl chr 4:159,563,798...159,572,333
G
Fkbp4
FKBP prolyl isomerase 4
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:161,748,993...161,757,447
Ensembl chr 4:161,748,993...161,757,447
G
Foxj2
forkhead box J2
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:155,653,446...155,679,815
Ensembl chr 4:155,653,718...155,679,793
G
Foxm1
forkhead box M1
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:161,685,236...161,697,633
Ensembl chr 4:161,685,258...161,696,305
G
Galnt3
polypeptide N-acetylgalactosaminyltransferase 3
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
OMIM ClinVar
PMID:3839626 PMID:3998061 PMID:8338191 PMID:13774168 PMID:15133511 PMID:15599692 PMID:15687324 PMID:16528452 PMID:16940445 PMID:17311862 PMID:17351710 PMID:18618993 PMID:20358599 PMID:24668887 PMID:25326635 PMID:25351881 PMID:25741868 PMID:26337219 PMID:28492532
NCBI chr 3:52,174,469...52,212,395
Ensembl chr 3:52,175,547...52,212,412
G
Galnt8
polypeptide N-acetylgalactosaminyltransferase 8
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,340,750...159,362,350
G
Gapdh
glyceraldehyde-3-phosphate dehydrogenase
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,676,336...157,680,322
Ensembl chr 4:157,676,595...157,679,962
G
Gdf3
growth differentiation factor 3
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:155,417,667...155,422,014
Ensembl chr 4:155,417,004...155,421,998
G
Gnb3
G protein subunit beta 3
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,352,558...157,359,237
Ensembl chr 4:157,352,372...157,358,262
G
Gpr162
G protein-coupled receptor 162
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,375,184...157,381,780
Ensembl chr 4:157,375,184...157,381,105
G
Grcc10
gene rich cluster, C10 gene
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,264,383...157,266,042
Ensembl chr 4:157,264,383...157,266,018
G
Iffo1
intermediate filament family orphan 1
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,659,115...157,676,335
Ensembl chr 4:157,659,147...157,676,331
G
Ing4
inhibitor of growth family, member 4
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,554,729...157,563,353
Ensembl chr 4:157,554,794...157,563,352
G
Iqsec3
IQ motif and Sec7 domain ArfGEF 3
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:153,948,052...154,044,493
Ensembl chr 4:153,948,055...154,044,493
G
Itfg2
integrin alpha FG-GAP repeat containing 2
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:161,730,643...161,744,281
Ensembl chr 4:161,730,641...161,743,896
G
Kcna1
potassium voltage-gated channel subfamily A member 1
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,190,781...159,192,526
Ensembl chr 4:159,190,804...159,192,526
G
Kcna5
potassium voltage-gated channel subfamily A member 5
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,077,195...159,079,003
Ensembl chr 4:159,077,195...159,079,003
G
Kcna6
potassium voltage-gated channel subfamily A member 6
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,253,934...159,287,193
Ensembl chr 4:159,253,934...159,287,193
G
Kdm5a
lysine demethylase 5A
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:152,892,388...152,972,196
Ensembl chr 4:152,892,388...152,972,201
G
Kl
Klotho
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:17710231 PMID:25741868 PMID:29389098
NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
G
Klrg1
killer cell lectin like receptor G1
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:155,038,936...155,051,449
Ensembl chr 4:155,039,628...155,051,429
G
Lag3
lymphocyte activating 3
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,425,644...157,433,700
Ensembl chr 4:157,425,644...157,433,467
G
Lpar5
lysophosphatidic acid receptor 5
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,581,000...157,596,454
Ensembl chr 4:157,594,436...157,595,972
G
Lpcat3
lysophosphatidylcholine acyltransferase 3
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,181,722...157,222,997
Ensembl chr 4:157,181,795...157,222,996
G
Lrrc23
leucine rich repeat containing 23
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,294,386...157,304,590
Ensembl chr 4:157,294,287...157,304,653
G
Lrtm2
leucine-rich repeats and transmembrane domains 2
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:151,375,568...151,397,485
Ensembl chr 4:151,375,572...151,390,263
G
Ltbr
lymphotoxin beta receptor
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,822,838...157,829,291
Ensembl chr 4:157,822,840...157,829,241
G
M6pr
mannose-6-phosphate receptor, cation dependent
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:155,084,755...155,093,896
Ensembl chr 4:155,088,317...155,092,827
G
Mfap5
microfibril associated protein 5
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:155,313,671...155,336,228
Ensembl chr 4:155,313,671...155,336,228
G
Mir141
microRNA 141
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,236,346...157,236,439
Ensembl chr 4:157,236,346...157,236,439
G
Mir200c
microRNA 200c
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,236,786...157,236,854
G
Mlf2
myeloid leukemia factor 2
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,452,578...157,457,254
Ensembl chr 4:157,452,607...157,457,249
G
Mrpl51
mitochondrial ribosomal protein L51
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,705,790...157,709,452
Ensembl chr 4:157,705,790...157,708,748
G
Nanog
Nanog homeobox
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:155,531,906...155,539,268
Ensembl chr 4:155,531,906...155,539,268
G
Ncapd2
non-SMC condensin I complex, subunit D2
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,682,855...157,705,903
Ensembl chr 4:157,683,077...157,704,596
G
Ndufa9
NADH:ubiquinone oxidoreductase subunit A9
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,371,263...159,399,636
Ensembl chr 4:159,371,259...159,399,634
G
Necap1
NECAP endocytosis associated 1
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:155,709,712...155,724,801
Ensembl chr 4:155,709,613...155,724,790
G
Ninj2
ninjurin 2
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:152,630,464...152,733,631
Ensembl chr 4:152,630,469...152,733,633
G
Nop2
NOP2 nucleolar protein
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,646,759...157,658,502
Ensembl chr 4:157,647,082...157,658,390
G
Nrip2
nuclear receptor interacting protein 2
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:161,719,434...161,729,673
Ensembl chr 4:161,720,501...161,729,192
G
Ntf3
neurotrophin 3
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:158,636,883...158,705,886
Ensembl chr 4:158,636,884...158,705,886
G
P3h3
prolyl 3-hydroxylase 3
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,359,331...157,375,186
Ensembl chr 4:157,359,332...157,372,861
G
Parp11
poly (ADP-ribose) polymerase family, member 11
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:160,013,968...160,059,981
Ensembl chr 4:160,020,472...160,058,729
G
Pex5
peroxisomal biogenesis factor 5
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:156,983,914...157,009,675
Ensembl chr 4:156,983,915...157,009,674
G
Phb2
prohibitin 2
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,230,769...157,235,375
Ensembl chr 4:157,230,769...157,235,367
G
Phc1
polyhomeotic homolog 1
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:155,093,947...155,118,838
Ensembl chr 4:155,093,949...155,116,154
G
Pianp
PILR alpha associated neural protein
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,508,862...157,517,676
Ensembl chr 4:157,511,642...157,517,669
G
Plekhg6
pleckstrin homology and RhoGEF domain containing G6
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,877,725...157,897,167
Ensembl chr 4:157,878,182...157,894,448
G
Prmt8
protein arginine methyltransferase 8
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:160,253,409...160,334,647
Ensembl chr 4:160,253,073...160,334,910
G
Ptms
parathymosin
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,435,371...157,439,507
Ensembl chr 4:157,435,373...157,439,507
G
Ptpn6
protein tyrosine phosphatase, non-receptor type 6
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,239,141...157,263,890
Ensembl chr 4:157,239,142...157,263,890
G
Rad51ap1
RAD51 associated protein 1
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,469,803...159,482,869
Ensembl chr 4:159,469,804...159,482,869
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Rad52
RAD52 homolog, DNA repair protein
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:152,429,826...152,451,875
Ensembl chr 4:152,430,187...152,451,609
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RGD1311164
similar to DNA segment, Chr 6, Wayne State University 163, expressed
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,483,089...159,518,387
Ensembl chr 4:159,483,131...159,515,447
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Rhno1
RAD9-HUS1-RAD1 interacting nuclear orphan 1
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:161,679,674...161,685,060
Ensembl chr 4:161,680,027...161,681,660
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Rimklb
ribosomal modification protein rimK-like family member B
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:155,258,241...155,292,809
Ensembl chr 4:155,260,103...155,275,161
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Scnn1a
sodium channel epithelial 1 subunit alpha
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,834,339...157,860,472
Ensembl chr 4:157,836,912...157,860,049
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Slc2a3
solute carrier family 2 member 3
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:155,549,991...155,626,018
Ensembl chr 4:155,408,233...155,631,856
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Slc6a12
solute carrier family 6 member 12
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:153,921,199...153,941,333
Ensembl chr 4:153,921,115...153,941,391
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Slc6a13
solute carrier family 6 member 13
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:153,874,942...153,912,185
Ensembl chr 4:153,874,852...153,912,155
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Spsb2
splA/ryanodine receptor domain and SOCS box containing 2
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,325,980...157,328,380
Ensembl chr 4:157,326,727...157,328,379
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Tapbpl
TAP binding protein-like
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,735,748...157,743,199
Ensembl chr 4:157,735,748...157,743,199
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Tead4
TEA domain transcription factor 4
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:161,542,566...161,619,848
Ensembl chr 4:161,540,130...161,587,222
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Tex52
testis expressed 52
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:161,696,884...161,708,793
Ensembl chr 4:161,696,903...161,705,690
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Tigar
TP53 induced glycolysis regulatory phosphatase
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,635,145...159,654,108
Ensembl chr 4:159,635,153...159,654,063
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,864,905...157,877,634
Ensembl chr 4:157,864,969...157,877,633
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Tpi1
triosephosphate isomerase 1
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,328,375...157,331,905
Ensembl chr 4:157,328,379...157,331,905
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Tspan9
tetraspanin 9
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:160,530,726...160,725,056
Ensembl chr 4:160,530,720...160,662,974
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Tulp3
TUB like protein 3
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:161,636,084...161,677,807
Ensembl chr 4:161,637,892...161,658,519
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Usp5
ubiquitin specific peptidase 5
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,332,735...157,347,803
Ensembl chr 4:157,332,740...157,347,803
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Vamp1
vesicle-associated membrane protein 1
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,726,941...157,733,644
Ensembl chr 4:157,726,941...157,733,643
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Vwf
von Willebrand factor
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
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Wnk1
WNK lysine deficient protein kinase 1
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:152,452,211...152,578,469
Ensembl chr 4:152,452,848...152,578,446
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Wnt5b
Wnt family member 5B
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:151,500,962...151,516,894
Ensembl chr 4:151,500,957...151,516,894
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Zfp384
zinc finger protein 384
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,523,083...157,552,606
Ensembl chr 4:157,523,110...157,552,596
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Fgf23
fibroblast growth factor 23
ISO
ClinVar Annotator: match by term: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2
ClinVar OMIM
PMID:11062477 PMID:15590700 PMID:15687325 PMID:16030159 PMID:16151858 PMID:18682534 PMID:18982401 PMID:19837926 PMID:22419710 PMID:24033266 PMID:25445451 PMID:26467025 PMID:28492532 PMID:29389098
NCBI chr 4:159,622,404...159,630,082
Ensembl chr 4:159,622,404...159,630,082
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Kl
Klotho
ISO
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3
OMIM ClinVar
PMID:17710231 PMID:25741868 PMID:28492532 PMID:29389098
NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
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Casr
calcium-sensing receptor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypocalcemia
CTD ClinVar
PMID:7874174 PMID:11701698 PMID:28492532
NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3017235
NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
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Pth
parathyroid hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11701698 PMID:11770836
NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
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Dmp1
dentin matrix acidic phosphoprotein 1
ISO
ClinVar Annotator: match by term: Hypophosphatemic rickets
ClinVar
PMID:24033266
NCBI chr14:6,889,851...6,923,961
Ensembl chr14:6,889,856...6,900,733
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Fam20c
FAM20C, golgi associated secretory pathway kinase
ISO
RGD
PMID:22615579
RGD:11558021
NCBI chr12:17,913,771...17,972,733
Ensembl chr12:17,913,767...17,972,737
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Fgf23
fibroblast growth factor 23
ISO
RGD
PMID:14988389
RGD:10044208
NCBI chr 4:159,622,404...159,630,082
Ensembl chr 4:159,622,404...159,630,082
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Phex
phosphate regulating endopeptidase homolog, X-linked
ISO
ClinVar Annotator: match by term: HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS
ClinVar
PMID:25741868
NCBI chr X:40,460,047...40,717,982
Ensembl chr X:40,460,047...40,717,982
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Phyh
phytanoyl-CoA 2-hydroxylase
ISO
ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS
ClinVar
PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 PMID:28492532
NCBI chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530
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Vdr
vitamin D receptor
ISO
ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS
ClinVar
PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 PMID:2849209 PMID:3024987 PMID:8392085 PMID:8675579 PMID:8862631 PMID:8961271 PMID:9005998 PMID:9360557 PMID:9495519 PMID:10707958 PMID:11564167 PMID:17130574 PMID:17371163 PMID:17970811 PMID:18159135 PMID:18279374 PMID:18593774 PMID:19682379 PMID:20200114 PMID:21168462 PMID:21931507 PMID:22992668 PMID:23180655 PMID:24033266 PMID:24073221 PMID:25741868 PMID:26177022 PMID:26198224 PMID:26590811 PMID:26631034 PMID:26911666 PMID:27164139 PMID:27607899 PMID:27778467 PMID:28492532
NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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Dmp1
dentin matrix acidic phosphoprotein 1
ISO
ClinVar Annotator: match by term: HYPOPHOSPHATEMIA, AUTOSOMAL RECESSIVE ClinVar Annotator: match by OMIM:241520
OMIM ClinVar
PMID:17033621 PMID:17033625 PMID:21050253 PMID:25741868 PMID:28492532 PMID:30311386
NCBI chr14:6,889,851...6,923,961
Ensembl chr14:6,889,856...6,900,733
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Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 2 ClinVar Annotator: match by OMIM:613312 DNA:missense mutation:cds:p.Y901S (human)
ClinVar OMIM
PMID:8960499 PMID:10480624 PMID:11739459 PMID:12881724 PMID:14671192 PMID:14988267 PMID:15001634 PMID:15126519 PMID:15605415 PMID:15677494 PMID:16025115 PMID:16315058 PMID:16607460 PMID:16968801 PMID:19229237 PMID:20016754 PMID:20137772 PMID:20137773 PMID:24033266 PMID:25741868 PMID:27467858 PMID:28492532 , PMID:20137773 , PMID:20137772
RGD:6906930 , RGD:6906931
NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
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Chrna6
cholinergic receptor nicotinic alpha 6 subunit
ISO
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
ClinVar
PMID:27726124
NCBI chr16:68,860,018...68,866,718
Ensembl chr16:68,860,018...68,866,718
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Chrnb3
cholinergic receptor nicotinic beta 3 subunit
ISO
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
ClinVar
PMID:27726124
NCBI chr16:68,876,442...68,913,628
Ensembl chr16:68,875,709...68,913,628
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Fnta
farnesyltransferase, CAAX box, alpha
ISO
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
ClinVar
PMID:27726124
NCBI chr16:70,834,957...70,854,724
Ensembl chr16:70,834,957...70,854,724
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Hook3
hook microtubule-tethering protein 3
ISO
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
ClinVar
PMID:27726124
NCBI chr16:70,710,347...70,818,789
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Pdgfb
platelet derived growth factor subunit B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23913003
NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
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Pdgfrb
platelet derived growth factor receptor beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
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Rnf170
ring finger protein 170
ISO
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
ClinVar
PMID:27726124
NCBI chr16:70,684,886...70,710,147
Ensembl chr16:70,687,487...70,705,128
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Slc20a2
solute carrier family 20 member 2
ISO
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar Annotator: match by OMIM:213600 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:22327515 PMID:23334463 PMID:25178512 PMID:25741868 PMID:27726124 PMID:28477710 PMID:28492532
NCBI chr16:74,318,287...74,408,030
Ensembl chr16:74,317,899...74,408,030
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Smim19
small integral membrane protein 19
ISO
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
ClinVar
PMID:27726124
NCBI chr16:74,408,085...74,422,070
Ensembl chr16:74,408,183...74,422,215
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Thap1
THAP domain containing 1
ISO
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
ClinVar
PMID:27726124
NCBI chr16:70,661,360...70,665,831
Ensembl chr16:70,661,320...70,665,831
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Pdgfrb
platelet derived growth factor receptor beta
ISO
ClinVar Annotator: match by OMIM:615007
OMIM ClinVar
PMID:23255827 PMID:24796542
NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
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Pdgfb
platelet derived growth factor subunit B
ISO
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 5 ClinVar Annotator: match by OMIM:615483
OMIM ClinVar
PMID:21409505 PMID:23913003 PMID:25741868
NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
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Xpr1
xenotropic and polytropic retrovirus receptor 1
ISO
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 6
ClinVar OMIM
PMID:886353 PMID:25741868 PMID:25938945
NCBI chr13:72,918,552...73,056,785
Ensembl chr13:72,918,490...73,056,875
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Myorg
myogenesis regulating glycosidase
ISO
ClinVar Annotator: match by term: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE
ClinVar OMIM
PMID:25741868 PMID:29910000 PMID:30460687 PMID:30589467 PMID:30649222 PMID:30656188 PMID:31009047
NCBI chr 5:57,873,404...57,882,008
Ensembl chr 5:57,876,498...57,881,944
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Jam2
junctional adhesion molecule 2
ISO
ClinVar Annotator: match by term: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE
OMIM ClinVar
PMID:26136916 PMID:31851307 PMID:32142645
NCBI chr11:24,235,310...24,285,279
Ensembl chr11:24,266,345...24,285,275
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Isg15
ISG15 ubiquitin-like modifier
ISO
ClinVar Annotator: match by OMIM:616126 ClinVar Annotator: match by term: Immunodeficiency 38 with basal ganglia calcification
ClinVar OMIM
PMID:22859821 PMID:25307056 PMID:25741868 PMID:28492532
NCBI chr 5:173,624,862...173,629,124
Ensembl chr 5:173,624,310...173,626,248
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Cyp24a1
cytochrome P450, family 24, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Infantile hypercalcemia CTD Direct Evidence: marker/mechanism
ClinVar CTD
NCBI chr 3:168,097,484...168,111,920
Ensembl chr 3:168,097,485...168,111,920
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Slc34a1
solute carrier family 34 member 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hypercalcemia, infantile
CTD ClinVar
PMID:24033266
NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
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Trpm6
transient receptor potential cation channel, subfamily M, member 6
ISO
ClinVar Annotator: match by term: Hypomagnesemia 1, intestinal ClinVar Annotator: match by OMIM:602014 ClinVar Annotator: match by null
OMIM ClinVar
PMID:9285786 PMID:12032568 PMID:12032570 PMID:14976260 PMID:16107578 PMID:23942199 PMID:24985022 PMID:25741868 PMID:26813946 PMID:28492532
NCBI chr 1:234,478,908...234,631,264
Ensembl chr 1:234,479,289...234,596,971
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Trpm7
transient receptor potential cation channel, subfamily M, member 7
ISO
ClinVar Annotator: match by term: Hypomagnesemia 1, intestinal
ClinVar
NCBI chr 3:119,258,189...119,347,084
Ensembl chr 3:119,259,467...119,330,345
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Fam111a
FAM111 trypsin like peptidase A
ISO
ClinVar Annotator: match by term: Kenny-Caffey syndrome type 2 ClinVar Annotator: match by OMIM:127000
OMIM ClinVar
PMID:23684011 PMID:23996431 PMID:24635597 PMID:24970356 PMID:29073591 PMID:32996714
NCBI chr 1:229,003,778...229,019,532
Ensembl chr 1:229,003,961...229,019,527
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Tbce
tubulin folding cofactor E
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12389028
NCBI chr17:53,983,126...54,029,028
Ensembl chr17:53,983,182...54,029,027
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Mgp
matrix Gla protein
ISO
DNA:deletion,nonsense mutation, splice-site mutation:exon, intron:c.69delG, IVS1-2A>G, c.113T>A (human) ClinVar Annotator: match by term: Keutel syndrome ClinVar Annotator: match by OMIM:245150 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by null
ClinVar CTD OMIM
PMID:9916809 PMID:15810001 PMID:21705322 PMID:25741868 PMID:28492532 , PMID:9916809
RGD:1600783
NCBI chr 4:170,856,783...170,860,105
Ensembl chr 4:170,856,751...170,860,225
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Alox12b
arachidonate 12-lipoxygenase, 12R type
ISO
ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts
ClinVar
NCBI chr10:55,744,646...55,756,524
Ensembl chr10:55,744,588...55,756,566
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Tmem107
transmembrane protein 107
ISO
ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts
ClinVar
PMID:25741868 PMID:27571260 PMID:28177126 PMID:29260032 PMID:29970281 PMID:29984895 PMID:29984898 PMID:29996189 PMID:31521395
NCBI chr10:55,653,694...55,656,270
Ensembl chr10:55,653,946...55,656,270
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Clcn5
chloride voltage-gated channel 5
ISO
ClinVar Annotator: match by term: Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis ClinVar Annotator: match by OMIM:308990
OMIM ClinVar
PMID:8559248 PMID:9062355 PMID:25741868
NCBI chr X:16,170,585...16,196,691
Ensembl chr X:16,050,780...16,196,789
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Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Coronary sclerosis, medial, of infancy
ClinVar
PMID:15940697 PMID:25741868
NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
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Ammecr1
AMMECR nuclear protein 1
ISO
ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
ClinVar OMIM
PMID:21681106 PMID:27811305 PMID:28089922 PMID:29174631
NCBI chr X:114,129,829...114,233,013
Ensembl chr X:114,131,898...114,232,939
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Rtl9
retrotransposon Gag like 9
ISO
ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
ClinVar
NCBI chr X:114,367,028...114,379,646
Ensembl chr X:114,373,907...114,378,622
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Tmem164
transmembrane protein 164
ISO
ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
ClinVar
PMID:21681106 PMID:27811305 PMID:28089922
NCBI chr X:113,947,355...114,110,064
Ensembl chr X:113,948,654...114,110,062
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Agxt
alanine--glyoxylate and serine--pyruvate aminotransferase
ISO
ClinVar Annotator: match by term: Nephrocalcinosis
ClinVar
PMID:8101040 PMID:9136629 PMID:9192270 PMID:10541294 PMID:10960483 PMID:12777626 PMID:15327387 PMID:15802217 PMID:16912707 PMID:17460142 PMID:17495019 PMID:19155213 PMID:20133649 PMID:23229545 PMID:24012869 PMID:24055001 PMID:24718375 PMID:24988064 PMID:25629080 PMID:28492532 PMID:28893421
NCBI chr 9:100,281,339...100,291,292
Ensembl chr 9:100,281,339...100,291,291
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Atp6v1b1
ATPase H+ transporting V1 subunit B1
ISO
ClinVar Annotator: match by term: Nephrocalcinosis
ClinVar
PMID:9916796 PMID:22509993 PMID:28893421
NCBI chr 4:115,417,100...115,435,754
Ensembl chr 4:115,416,580...115,437,206
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Cldn16
claudin 16
ISO
ClinVar Annotator: match by term: Nephrocalcinosis
ClinVar
PMID:10390358 PMID:28893421
NCBI chr11:77,683,942...77,703,232
Ensembl chr11:77,681,794...77,703,255
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Cldn19
claudin 19
ISO
ClinVar Annotator: match by term: Nephrocalcinosis
ClinVar
PMID:28893421
NCBI chr 5:138,300,692...138,307,982
Ensembl chr 5:138,300,107...138,305,683
G
Grhpr
glyoxylate and hydroxypyruvate reductase
ISO
ClinVar Annotator: match by term: Nephrocalcinosis
ClinVar
PMID:10484776 PMID:11030416 PMID:12185464 PMID:14635115 PMID:15327387 PMID:18560364 PMID:24033266 PMID:24116921 PMID:25644115 PMID:25741868 PMID:28492532 PMID:28893421
NCBI chr 5:60,528,981...60,538,410
Ensembl chr 5:60,528,997...60,538,375
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Phex
phosphate regulating endopeptidase homolog, X-linked
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9430241
NCBI chr X:40,460,047...40,717,982
Ensembl chr X:40,460,047...40,717,982
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3017235
NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
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Pth
parathyroid hormone
IDA
RGD
PMID:23344571
RGD:7242573
NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
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Slc12a1
solute carrier family 12 member 1
ISO
ClinVar Annotator: match by term: Nephrocalcinosis
ClinVar
PMID:28893421
NCBI chr 3:117,421,531...117,498,372
Ensembl chr 3:117,421,604...117,498,367
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Slc26a1
solute carrier family 26 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20160351
NCBI chr14:2,050,805...2,056,091
Ensembl chr14:2,050,483...2,056,089
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Slc34a1
solute carrier family 34 member 1
ISO
associated with Hypercalciuria ClinVar Annotator: match by term: Nephrocalcinosis
ClinVar
PMID:16688119 PMID:26047794 PMID:28492532 PMID:28893421 , PMID:12674325
RGD:7242938
NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
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Slc3a1
solute carrier family 3 member 1
ISO
ClinVar Annotator: match by term: Nephrocalcinosis
ClinVar
PMID:25741868 PMID:28893421
NCBI chr 6:8,284,937...8,318,649
Ensembl chr 6:8,284,878...8,318,674
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Samd9
sterile alpha motif domain containing 9
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, familial, normophosphatemic ClinVar Annotator: match by OMIM:610455
OMIM ClinVar
PMID:16960814 PMID:18094730 PMID:25741868 PMID:28346228 PMID:28492532
NCBI chr 4:28,304,967...28,324,637
Ensembl chr 4:28,305,002...28,310,178
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Fbn1
fibrillin 1
ISO
protein:increased expression:cortical bone, trabecular bone (mouse)
RGD
PMID:11159866
RGD:7794797
NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
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Mepe
matrix extracellular phosphoglycoprotein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11414762
NCBI chr14:6,782,011...6,793,561
Ensembl chr14:6,782,012...6,793,558
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Zbtb20
zinc finger and BTB domain containing 20
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Primrose syndrome
CTD ClinVar OMIM
PMID:21567911 PMID:21910247 PMID:25017102 PMID:25741868 PMID:28492532 PMID:30256248
NCBI chr11:62,014,925...62,561,113
Ensembl chr11:62,014,925...62,451,184
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Ocln
occludin
ISO
ClinVar Annotator: match by term: Band-like calcification with simplified gyration and polymicrogyria ClinVar Annotator: match by OMIM:251290 ClinVar Annotator: match by null
OMIM ClinVar
PMID:18414213 PMID:19012351 PMID:20727516 PMID:25741868
NCBI chr 2:30,527,327...30,577,218
Ensembl chr 2:30,527,715...30,577,218
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Usp18
ubiquitin specific peptidase 18
ISO
ClinVar Annotator: match by term: PSEUDO-TORCH SYNDROME 2 ClinVar Annotator: match by term: Pseudo-TORCH syndrome 2
ClinVar OMIM
PMID:12833411 PMID:27325888 PMID:31940699
NCBI chr 4:153,812,312...153,834,374
Ensembl chr 4:153,805,993...153,834,430
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Stat2
signal transducer and activator of transcription 2
ISO
ClinVar Annotator: match by term: PSEUDO-TORCH SYNDROME 3
ClinVar OMIM
PMID:31836668 PMID:32092142
NCBI chr 7:2,691,064...2,707,530
Ensembl chr 7:2,691,369...2,707,741
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Gnas
GNAS complex locus
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Pseudohypoparathyroidism DNA:deletions:exon
CTD ClinVar
PMID:219790 PMID:1505964 PMID:2109828 PMID:2122458 PMID:8557265 PMID:8702665 PMID:9159128 PMID:9328353 PMID:9506752 PMID:9876352 PMID:10487696 PMID:11073544 PMID:11092390 PMID:11095461 PMID:11450852 PMID:11600516 PMID:11784876 PMID:12024004 PMID:12621129 PMID:15711092 PMID:17164301 PMID:17299070 PMID:17962410 PMID:18553568 PMID:21525160 PMID:21747923 PMID:21823526 PMID:23533243 PMID:23796510 PMID:24088041 PMID:25219572 PMID:25326637 PMID:25741868 PMID:25802881 PMID:26633545 PMID:27703483 PMID:28492532 PMID:29072892 PMID:30311386 , PMID:18812479 , PMID:11600516 , PMID:10487696
RGD:11568048 , RGD:11568047 , RGD:11568042
NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483 Ensembl chr 3:172,374,957...172,428,483
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Gnas
GNAS complex locus
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1B DNA:deletion, hypomethylation DNA:mutations:exon, intron:multiple DNA:hypomethylation:exon, promoter
CTD ClinVar OMIM
PMID:11029463 PMID:20015054 PMID:20427508 PMID:21836370 PMID:23884777 PMID:25741868 , PMID:22378814 , PMID:18812479 , PMID:12621129 , PMID:15537666
RGD:11568050 , RGD:11568048 , RGD:11568044 , RGD:11568043
NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483 Ensembl chr 3:172,374,957...172,428,483
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Stx16
syntaxin 16
ISO
ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1B
ClinVar OMIM
PMID:14561710 PMID:15579741 PMID:15800843 PMID:25741868 PMID:28492532
NCBI chr 3:172,154,739...172,183,699
Ensembl chr 3:172,154,754...172,183,732
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Gnas
GNAS complex locus
ISO
ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1C
ClinVar OMIM
PMID:21488135
NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483 Ensembl chr 3:172,374,957...172,428,483
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Gnas
GNAS complex locus
ISO
ClinVar Annotator: match by term: Pseudopseudohypoparathyroidism CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by null
OMIM ClinVar CTD
PMID:219790 PMID:1505964 PMID:2122458 PMID:7853365 PMID:9506752 PMID:9727013 PMID:9876352 PMID:10487696 PMID:11095461 PMID:11600516 PMID:11784876 PMID:12024004 PMID:12624854 PMID:15711092 PMID:18553568 PMID:23796510 PMID:25219572 PMID:25594858 PMID:25741868 PMID:25802881 PMID:28708303 PMID:29072892 PMID:30311386
NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483 Ensembl chr 3:172,374,957...172,428,483
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Slc34a2
solute carrier family 34 member 2
ISO
ClinVar Annotator: match by OMIM:265100
OMIM ClinVar
PMID:11287838 PMID:16960801
NCBI chr14:60,257,211...60,276,516
Ensembl chr14:60,256,712...60,276,794
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Farsb
phenylalanyl-tRNA synthetase subunit beta
ISO
ClinVar Annotator: match by term: Rajab interstitial lung disease with brain calcifications
ClinVar
PMID:19161147 PMID:25741868 PMID:29573043 PMID:29979980 PMID:30014610
NCBI chr 9:84,324,456...84,383,674
Ensembl chr 9:84,324,442...84,383,687
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Farsb
phenylalanyl-tRNA synthetase subunit beta
ISO
ClinVar Annotator: match by term: Rajab syndrome
ClinVar OMIM
PMID:29979980
NCBI chr 9:84,324,456...84,383,674
Ensembl chr 9:84,324,442...84,383,687
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Farsa
phenylalanyl-tRNA synthetase subunit alpha
ISO
ClinVar Annotator: match by term: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2
OMIM ClinVar
PMID:31355908
NCBI chr19:25,969,255...25,978,777
Ensembl chr19:25,969,255...25,978,776
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Cldn16
claudin 16
ISO
ClinVar Annotator: match by term: Hypomagnesemia 5, renal, with ocular involvement
ClinVar
NCBI chr11:77,683,942...77,703,232
Ensembl chr11:77,681,794...77,703,255
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Cldn19
claudin 19
ISO
ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive ClinVar Annotator: match by term: Hypomagnesemia 5, renal, with ocular involvement ClinVar Annotator: match by OMIM:248190
OMIM ClinVar
PMID:17033971 PMID:18188451 PMID:22422540 PMID:27530400 PMID:28492532
NCBI chr 5:138,300,692...138,307,982
Ensembl chr 5:138,300,107...138,305,683
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Egf
epidermal growth factor
ISO
ClinVar Annotator: match by term: Renal Hypomagnesemia, Recessive
ClinVar
NCBI chr 2:68,820,616...68,895,537
G
Pth
parathyroid hormone
ISO
associated with Kidney Failure, Chronic; protein:decreased expression:serum (human)
RGD
PMID:18480316
RGD:7242687
NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
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Casr
calcium-sensing receptor
ISO
RGD
PMID:12671052
RGD:734698
NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
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Clcn5
chloride voltage-gated channel 5
ISO
ClinVar Annotator: match by term: Rickets
ClinVar
PMID:30311386
NCBI chr X:16,170,585...16,196,691
Ensembl chr X:16,050,780...16,196,789
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Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
ISO
vitamin D-dependent rickets type I, OMIM:264700;DNA:missense mutations: :R107H, G125E, R335P, P382S ClinVar Annotator: match by term: Vitamin D-Dependent Rickets CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:16494812 , PMID:9486994 , PMID:11416220
RGD:1600874 , RGD:734871
NCBI chr 7:70,333,150...70,340,006
Ensembl chr 7:70,335,061...70,340,005
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Cyp2r1
cytochrome P450, family 2, subfamily r, polypeptide 1
ISS ISO
OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785 ClinVar Annotator: match by term: Rickets
MouseDO ClinVar
PMID:30311386
NCBI chr 1:184,060,521...184,106,604
Ensembl chr 1:184,093,920...184,106,200
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Dmp1
dentin matrix acidic phosphoprotein 1
ISO
ClinVar Annotator: match by term: Rickets
ClinVar
PMID:28492532 PMID:30311386
NCBI chr14:6,889,851...6,923,961
Ensembl chr14:6,889,856...6,900,733
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Fam20c
FAM20C, golgi associated secretory pathway kinase
ISS
OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785
MouseDO
NCBI chr12:17,913,771...17,972,733
Ensembl chr12:17,913,767...17,972,737
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Pth
parathyroid hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10375030
NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
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Pth1r
parathyroid hormone 1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10375030
NCBI chr 8:118,984,531...119,012,803
Ensembl chr 8:118,988,053...119,012,671
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Vdr
vitamin D receptor
ISO
VDDR II,OMIM:277440;DNA:point mutation:exon:p.G33D, p.R70G (human) ClinVar Annotator: match by term: Vitamin D-Dependent Rickets CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:1338926 PMID:17451081 PMID:22466564 PMID:28492532 , PMID:2849209
RGD:1624354
NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO
ClinVar Annotator: match by term: SHORT syndrome ClinVar Annotator: match by OMIM:269880
OMIM ClinVar
PMID:6407320 PMID:7705412 PMID:8574420 PMID:11135494 PMID:12514365 PMID:18384141 PMID:18414213 PMID:22351933 PMID:23810378 PMID:23810379 PMID:23810382 PMID:23980586 PMID:24033266 PMID:24088041 PMID:24886349 PMID:25133428 PMID:25157968 PMID:25326637 PMID:25488983 PMID:25741868 PMID:25939554 PMID:26529633 PMID:26633545 PMID:26974159 PMID:27076228 PMID:27116393 PMID:27693481 PMID:27766312 PMID:28302518 PMID:28492532 PMID:28632845 PMID:29740032 PMID:30311386
NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
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Ifih1
interferon induced with helicase C domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 3:48,557,696...48,604,097
Ensembl chr 3:48,557,696...48,604,097
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Ifih1
interferon induced with helicase C domain 1
ISO
ClinVar Annotator: match by term: Singleton-Merten syndrome 1
OMIM ClinVar
PMID:21070929 PMID:24686847 PMID:24995871 PMID:25620204 PMID:25741868 PMID:28319323 PMID:28492532 PMID:29270977 PMID:30311386 PMID:30707351
NCBI chr 3:48,557,696...48,604,097
Ensembl chr 3:48,557,696...48,604,097
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Ddx58
DEXD/H-box helicase 58
ISO
ClinVar Annotator: match by term: Singleton-Merten syndrome 2
ClinVar OMIM
PMID:25620203
NCBI chr 5:56,486,584...56,536,898
Ensembl chr 5:56,500,734...56,536,772
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Akap5
A-kinase anchoring protein 5
IEP
mRNA:increased expression:dentate gyrus (rat)
RGD
PMID:12542670
RGD:2313247
NCBI chr 6:99,356,509...99,361,909
Ensembl chr 6:99,356,509...99,361,909
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Cnnm2
cyclin and CBS domain divalent metal cation transport mediator 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23027747
NCBI chr 1:266,530,421...266,651,292
Ensembl chr 1:266,530,477...266,649,398
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Spink1
serine peptidase inhibitor, Kazal type 1
ISO
ClinVar Annotator: match by term: Tropical calcific pancreatitis ClinVar Annotator: match by OMIM:608189
OMIM ClinVar
PMID:11265669 PMID:12011155 PMID:25741868 PMID:28492532
NCBI chr18:38,221,919...38,242,092
Ensembl chr18:38,221,681...38,242,119
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Ager
advanced glycosylation end product-specific receptor
disease_progression
ISO
associated with Renal Insufficiency, Chronic; protein:decreased expression:serum (human) associated with Diabetes Mellitus, Experimental; protein:increased expression:aorta (mouse)
RGD
PMID:21643645 , PMID:22305260 , PMID:21099228
RGD:7243940 , RGD:7245562 , RGD:7243959
NCBI chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
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Cd40
CD40 molecule
ISO
associated with Coronary Artery Disease
RGD
PMID:16494885
RGD:7248436
NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
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Cd40lg
CD40 ligand
ISO
associated with Coronary Artery Disease
RGD
PMID:16494885
RGD:7248436
NCBI chr X:159,703,703...159,714,886
Ensembl chr X:159,703,578...159,716,562
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Ctnnb1
catenin beta 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23223575
NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
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Kl
Klotho
ISO
RGD
PMID:21115613
RGD:10403077
NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
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Mgp
matrix Gla protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21705322
NCBI chr 4:170,856,783...170,860,105
Ensembl chr 4:170,856,751...170,860,225
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Mthfr
methylenetetrahydrofolate reductase
severity
ISO
DNA:transition:cds:g.677C>T (human)
RGD
PMID:21394321
RGD:6893475
NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
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Pla2g7
phospholipase A2 group VII
ISO
DNA:SNPs:cds, intron:multiple
RGD
PMID:22340269
RGD:6482770
NCBI chr 9:19,935,754...19,978,013
Ensembl chr 9:19,935,768...19,978,013
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Pth
parathyroid hormone
disease_progression
IDA IEP
associated with Kidney Failure, Chronic protein:increased expression:serum (rat)
RGD
PMID:23486515 , PMID:22634235
RGD:7242416 , RGD:7242900
NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
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Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
ISO
ClinVar Annotator: match by term: Vitamin D-dependent rickets type 1A ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A ClinVar Annotator: match by OMIM:264700
OMIM ClinVar
PMID:9415400 PMID:9486994 PMID:9837822 PMID:10518789 PMID:10566658 PMID:11737215 PMID:12050193 PMID:21700898 PMID:22190362 PMID:22443290 PMID:23423976 PMID:23444327 PMID:23483640 PMID:25284246 PMID:25741868 PMID:28492532
NCBI chr 7:70,333,150...70,340,006
Ensembl chr 7:70,335,061...70,340,005
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Cyp2r1
cytochrome P450, family 2, subfamily r, polypeptide 1
ISO
ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1
ClinVar
PMID:8201479 PMID:10969262 PMID:15128933 PMID:16549493 PMID:24033266 PMID:25942481 PMID:28548312
NCBI chr 1:184,060,521...184,106,604
Ensembl chr 1:184,093,920...184,106,200
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Piezo2
piezo-type mechanosensitive ion channel component 2
ISO
ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
G
Cyp2r1
cytochrome P450, family 2, subfamily r, polypeptide 1
ISO
ClinVar Annotator: match by term: Vitamin d hydroxylation-deficient rickets, type 1b
OMIM ClinVar
PMID:8201479 PMID:10969262 PMID:15128933 PMID:16549493 PMID:22855339 PMID:24033266 PMID:25942481 PMID:28548312
NCBI chr 1:184,060,521...184,106,604
Ensembl chr 1:184,093,920...184,106,200
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Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
ISO
ClinVar Annotator: match by term: Vitamin D-Dependent Rickets
ClinVar
NCBI chr 7:70,333,150...70,340,006
Ensembl chr 7:70,335,061...70,340,005
G
Vdr
vitamin D receptor
ISO
ClinVar Annotator: match by term: Vitamin D-Dependent Rickets
ClinVar
PMID:28492532
NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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Phyh
phytanoyl-CoA 2-hydroxylase
ISO
ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL
ClinVar
PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 PMID:28492532
NCBI chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530
G
Vdr
vitamin D receptor
treatment
ISO
ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL DNA:missense mutations:cds: DNA:missense mutation:cds:P.K45E(human) DNA:missense mutations,nonsense mutation:exon,splice junction: ClinVar Annotator: match by OMIM:277440
OMIM ClinVar
PMID:1652893 PMID:2174914 PMID:2177843 PMID:2557627 PMID:2558018 PMID:2849209 PMID:3024987 PMID:8392085 PMID:8675579 PMID:8862631 PMID:8961271 PMID:9005998 PMID:9360557 PMID:9495519 PMID:10707958 PMID:11564167 PMID:17130574 PMID:17371163 PMID:17970811 PMID:18159135 PMID:18279374 PMID:18593774 PMID:19682379 PMID:20200114 PMID:21168462 PMID:21931507 PMID:22992668 PMID:23180655 PMID:24033266 PMID:24073221 PMID:25741868 PMID:26177022 PMID:26198224 PMID:26590811 PMID:26631034 PMID:26911666 PMID:27164139 PMID:27607899 PMID:27778467 PMID:28492532 , PMID:24693968 , PMID:24859502 , PMID:25201466 , PMID:24246681 , PMID:9275211
RGD:13432060 , RGD:13210792 , RGD:13210780 , RGD:13210778 , RGD:8158074
NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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Cyp3a62
cytochrome P450, family 3, subfamily a, polypeptide 62
ISO
ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 3
OMIM ClinVar
PMID:25741868 PMID:29461981 PMID:32165824
NCBI chr12:18,679,809...18,709,397
Ensembl chr12:18,678,594...18,709,397
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Bglap
bone gamma-carboxyglutamate protein
ISO
mRNA:increased expression:long bone
RGD
PMID:22573557
RGD:7207229
NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
G
Fam20c
FAM20C, golgi associated secretory pathway kinase
ISO
mRNA:increased expression:long bone, osteoblast, osteocyte (mouse)
RGD
PMID:24710520
RGD:11560488
NCBI chr12:17,913,771...17,972,733
Ensembl chr12:17,913,767...17,972,737
G
Phex
phosphate regulating endopeptidase homolog, X-linked
ISO
ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets ClinVar Annotator: match by term: Hypophosphatemic Rickets, X-Linked Dominant DNA:mutation:exon:p.K496X(mouse) DNA:deletions:3'UTR,promoter,exons: DNA:mutations:cds,splice junction: DNA:deletion,mutations:exon,splice junction: ClinVar Annotator: match by OMIM:307800
OMIM ClinVar
PMID:188828 PMID:3394683 PMID:7550339 PMID:9097956 PMID:9106524 PMID:9199930 PMID:9768646 PMID:9768674 PMID:10439971 PMID:10737991 PMID:11004247 PMID:11468271 PMID:11502821 PMID:11502829 PMID:12727977 PMID:14564066 PMID:14564077 PMID:16055933 PMID:16303832 PMID:16636593 PMID:18162710 PMID:18252791 PMID:18625346 PMID:19219621 PMID:21050253 PMID:21902834 PMID:21994957 PMID:22261628 PMID:22695891 PMID:23079138 PMID:23466123 PMID:24033266 PMID:24684036 PMID:24756041 PMID:24857004 PMID:24926462 PMID:25525159 PMID:25741868 PMID:25839938 PMID:26040324 PMID:26051471 PMID:26377240 PMID:26467025 PMID:27840894 PMID:28492532 PMID:28506344 PMID:29393334 PMID:29460029 PMID:29505567 PMID:29858904 PMID:30298486 PMID:30607568 PMID:30682568 PMID:30920082 , PMID:22573557 , PMID:9063736 , PMID:9106524 , PMID:7550339
RGD:7207229 , RGD:11556248 , RGD:11556247 , RGD:11556246
NCBI chr X:40,460,047...40,717,982
Ensembl chr X:40,460,047...40,717,982
G
Clcn5
chloride voltage-gated channel 5
ISO
ClinVar Annotator: match by term: X-linked recessive hypophosphatemic rickets ClinVar Annotator: match by term: Hypophosphatemic rickets, X-linked recessive
ClinVar OMIM
PMID:7915957 PMID:8559248 PMID:9187673 PMID:9734595 PMID:15086899 PMID:16822791 PMID:19546591 PMID:24081861 PMID:25741868
NCBI chr X:16,170,585...16,196,691
Ensembl chr X:16,050,780...16,196,789
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all