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: Hyperphosphatemic Familial Tumoral Calcinosis 1
Accession: DOID:9007992
browse the term
Synonyms: exact_synonym: HFTC1
primary_id: MIM:211900
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Acrbp
acrosin binding protein
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,537,395...159,550,454
Ensembl chr 4:159,537,391...159,550,454
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Acsm4
acyl-CoA synthetase medium-chain family member 4
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 1:183,485,259...183,509,712
Ensembl chr 1:183,485,259...183,509,712
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Adipor2
adiponectin receptor 2
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:154,195,440...154,261,141
Ensembl chr 4:154,172,567...154,231,666
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Aicda
activation-induced cytidine deaminase
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,446,120...157,455,958
Ensembl chr 4:157,444,697...157,456,356
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Akap3
A-kinase anchoring protein 3
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:161,374,198...161,400,062
Ensembl chr 4:161,374,407...161,400,230
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Ano2
anoctamin 2
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:160,200,471...160,541,830
Ensembl chr 4:160,182,152...160,541,821
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Apobec1
apolipoprotein B mRNA editing enzyme catalytic subunit 1
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,472,879...157,500,496
Ensembl chr 4:157,472,868...157,498,909
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Atn1
atrophin 1
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,240,573...159,254,378
Ensembl chr 4:159,237,562...159,254,418
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B4galnt3
beta-1,4-N-acetyl-galactosaminyl transferase 3
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:155,081,261...155,181,255
Ensembl chr 4:155,081,261...155,181,244
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C1r
complement C1r
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,099,013...159,109,770
Ensembl chr 4:159,098,918...159,109,714
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C1rl
complement C1r subcomponent like
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,080,495...159,097,066
Ensembl chr 4:159,080,495...159,097,066
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C1s
complement C1s
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,116,549...159,128,736
Ensembl chr 4:159,116,549...159,128,736
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C3ar1
complement C3a receptor 1
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,747,419...157,756,609
Ensembl chr 4:157,746,089...157,776,323
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Cacna1c
calcium voltage-gated channel subunit alpha1 C
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:153,431,169...154,051,932
Ensembl chr 4:153,436,427...154,051,762
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Cacna2d4
calcium voltage-gated channel auxiliary subunit alpha2delta 4
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:154,080,877...154,197,369
Ensembl chr 4:154,080,877...154,193,778
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Ccdc77
coiled-coil domain containing 77
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:155,206,402...155,238,235
Ensembl chr 4:155,193,275...155,239,207
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Ccnd2
cyclin D2
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:161,653,048...161,675,422
Ensembl chr 4:161,653,048...161,680,301 Ensembl chr 4:161,653,048...161,680,301
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Cd163
CD163 molecule
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:158,770,751...158,804,146
Ensembl chr 4:158,770,749...158,804,146
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Cd27
CD27 molecule
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,716,932...159,721,823
Ensembl chr 4:159,716,935...159,721,823
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Cd4
Cd4 molecule
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,355,147...159,381,636
Ensembl chr 4:159,356,337...159,381,461
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Cd9
CD9 molecule
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,942,553...159,975,463
Ensembl chr 4:159,942,560...159,975,444
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Cdca3
cell division cycle associated 3
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,321,203...159,325,072
Ensembl chr 4:159,321,014...159,325,068
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Chd4
chromodomain helicase DNA binding protein 4
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,584,623...159,617,867
Ensembl chr 4:159,584,654...159,617,866
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Clec4a1
C-type lectin domain family 4, member A1
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,845,811...157,857,926
Ensembl chr 4:157,845,752...157,858,273
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Clec4a3
C-type lectin domain family 4, member A3
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,885,899...157,896,728
Ensembl chr 4:157,885,895...157,896,727
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Clec4b2
C-type lectin domain family 4, member B2
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:158,148,434...158,171,933
Ensembl chr 4:158,148,314...158,172,249
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Clec4d
C-type lectin domain family 4, member D
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:158,275,287...158,286,978
Ensembl chr 4:158,275,341...158,287,055
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Clec4e
C-type lectin domain family 4, member E
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:158,292,624...158,298,607
Ensembl chr 4:158,293,311...158,298,467
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Clec6a-ps1
C-type lectin domain family 6, member A, pseudogene 1
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:158,225,100...158,244,722
Ensembl chr 4:158,225,099...158,244,295
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Clstn3
calsyntenin 3
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,017,795...159,051,069
Ensembl chr 4:159,017,795...159,051,069
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Cops7a
COP9 signalosome subunit 7A
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,452,878...159,478,878
Ensembl chr 4:159,452,897...159,460,315
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Cracr2a
calcium release activated channel regulator 2A
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:162,094,247...162,207,926
Ensembl chr 4:162,110,929...162,221,529
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Dcp1b
decapping mRNA 1B
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:154,030,181...154,068,038
Ensembl chr 4:154,030,690...154,068,035
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Dppa3
developmental pluripotency-associated 3
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,523,426...157,526,810
Ensembl chr 5:93,143,318...93,144,472 Ensembl chr 4:93,143,318...93,144,472
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Dyrk4
dual specificity tyrosine phosphorylation regulated kinase 4
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:161,401,580...161,443,816
Ensembl chr 4:161,401,580...161,443,791
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Emg1
EMG1 N1-specific pseudouridine methyltransferase
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,195,545...159,203,826
Ensembl chr 4:159,195,564...159,203,826
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Eno2
enolase 2
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,258,371...159,267,220
Ensembl chr 4:159,258,371...159,267,220
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Erc1
ELKS/RAB6-interacting/CAST family member 1
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:154,435,936...154,727,987
Ensembl chr 4:154,435,944...154,727,987
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Fam90a1a
family with sequence similarity 90 member A1A
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr16:76,801,218...76,808,469
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Fbxl14
F-box and leucine-rich repeat protein 14
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:154,334,820...154,338,638
Ensembl chr 4:154,334,092...154,377,959
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Ferry3
FERRY endosomal RAB5 effector complex subunit 3
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:161,458,942...161,494,213
Ensembl chr 4:161,458,931...161,493,075
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Fgf23
fibroblast growth factor 23
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:15590700 PMID:15687325 PMID:18682534 PMID:19837926 PMID:24033266 PMID:25378588 PMID:25741868 PMID:29389098 More...
NCBI chr 4:161,600,439...161,609,991
Ensembl chr 4:161,600,383...161,609,991
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Fgf6
fibroblast growth factor 6
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:161,541,089...161,549,624
Ensembl chr 4:161,541,089...161,553,521
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Fkbp4
FKBP prolyl isomerase 4
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:163,389,464...163,397,918
Ensembl chr 4:163,389,464...163,397,918
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Foxj2
forkhead box J2
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,718,990...157,745,468
Ensembl chr 4:157,718,992...157,745,450
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Foxm1
forkhead box M1
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:163,325,628...163,338,100
Ensembl chr 4:163,325,614...163,337,172
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Galnt3
polypeptide N-acetylgalactosaminyltransferase 3
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
OMIM ClinVar
PMID:3839626 PMID:3998061 PMID:5899975 PMID:8338191 PMID:9536098 PMID:13774168 PMID:15133511 PMID:15599692 PMID:15687324 PMID:16199547 PMID:16528452 PMID:16940445 PMID:17311862 PMID:17351710 PMID:17576681 PMID:18618993 PMID:18982401 PMID:20358599 PMID:21347749 PMID:24668887 PMID:25326635 PMID:25351881 PMID:25741868 PMID:25899975 PMID:26337219 PMID:27164190 PMID:27867679 PMID:28492532 PMID:33614378 PMID:38106599 More...
NCBI chr 3:71,150,559...71,187,321
Ensembl chr 3:71,150,571...71,174,323
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Galnt8
polypeptide N-acetylgalactosaminyltransferase 8
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:161,307,603...161,336,485
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Gapdh
glyceraldehyde-3-phosphate dehydrogenase
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,648,592...159,653,436
Ensembl chr 4:159,648,592...159,653,377
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Gdf3
growth differentiation factor 3
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,503,547...157,507,923
Ensembl chr 4:157,502,884...157,507,907
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Gnb3
G protein subunit beta 3
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,325,741...159,331,443
Ensembl chr 4:159,325,742...159,331,445
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Gpr162
G protein-coupled receptor 162
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,348,465...159,354,577
Ensembl chr 4:159,348,303...159,354,390
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Grcc10
gene rich cluster, C10 gene
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,237,562...159,239,223
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Iffo1
intermediate filament family orphan 1
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,631,309...159,648,531
Ensembl chr 4:159,630,763...159,648,527
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Ing4
inhibitor of growth family, member 4
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,528,183...159,536,762
Ensembl chr 4:159,528,189...159,536,761
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Iqsec3
IQ motif and Sec7 domain ArfGEF 3
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:156,283,040...156,379,396
Ensembl chr 4:156,283,043...156,379,396
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Itfg2
integrin alpha FG-GAP repeat containing 2
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:163,371,125...163,384,676
Ensembl chr 4:163,338,702...163,384,367
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Kcna1
potassium voltage-gated channel subfamily A member 1
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:161,150,378...161,160,051
Ensembl chr 4:161,147,418...161,160,044
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Kcna5
potassium voltage-gated channel subfamily A member 5
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:161,040,853...161,044,311
Ensembl chr 4:160,996,950...161,044,408
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Kcna6
potassium voltage-gated channel subfamily A member 6
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:161,229,103...161,262,352
Ensembl chr 4:161,191,961...161,263,240
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Kdm5a
lysine demethylase 5A
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:155,238,124...155,316,121
Ensembl chr 4:155,238,044...155,316,121
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Kl
Klotho
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:17710231 PMID:25741868 PMID:28492532 PMID:29389098
NCBI chr12:5,326,003...5,367,016
Ensembl chr12:5,325,959...5,367,015
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Klrg1
killer cell lectin like receptor G1
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,127,571...157,139,372
Ensembl chr 4:157,127,571...157,139,372
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Lag3
lymphocyte activating 3
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,398,930...159,407,001
Ensembl chr 4:159,398,932...159,406,669
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LOC120102747
small nucleolar RNA U89
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,206,825...159,207,085
Ensembl chr 4:159,206,825...159,207,085
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Lpar5
lysophosphatidic acid receptor 5
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,556,735...159,570,216
Ensembl chr 4:159,554,805...159,571,894
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Lpcat3
lysophosphatidylcholine acyltransferase 3
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,154,690...159,196,176
Ensembl chr 4:159,154,158...159,196,358
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Lrrc23
leucine rich repeat containing 23
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,267,572...159,277,764
Ensembl chr 4:159,267,574...159,277,794
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Lrtm2
leucine-rich repeats and transmembrane domains 2
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:154,158,165...154,180,389
Ensembl chr 4:154,158,168...154,167,641
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Ltbr
lymphotoxin beta receptor
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,795,115...159,801,571
Ensembl chr 4:159,795,115...159,807,296
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M6pr
mannose-6-phosphate receptor, cation dependent
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,173,154...157,182,293
Ensembl chr 4:157,173,125...157,182,277
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Mfap5
microfibril associated protein 5
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,399,919...157,422,448
Ensembl chr 4:157,395,597...157,422,448
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Mir141
microRNA 141
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,209,525...159,209,618
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Mir200c
microRNA 200c
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,209,965...159,210,033
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Mlf2
myeloid leukemia factor 2
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,425,542...159,430,584
Ensembl chr 4:159,411,732...159,430,571
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Mrpl51
mitochondrial ribosomal protein L51
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,677,988...159,681,650
Ensembl chr 4:159,677,827...159,681,641
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Nanog
Nanog homeobox
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,615,687...157,623,061
Ensembl chr 4:157,615,687...157,623,061
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Ncapd2
non-SMC condensin I complex, subunit D2
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,655,051...159,677,938
Ensembl chr 4:159,655,051...159,677,938
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Ndufa9
NADH:ubiquinone oxidoreductase subunit A9
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:161,345,398...161,374,188
Ensembl chr 4:161,345,400...161,375,025
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Necap1
NECAP endocytosis associated 1
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,775,890...157,790,992
Ensembl chr 4:157,775,896...157,790,984
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Ninj2
ninjurin 2
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:154,978,660...155,080,860
Ensembl chr 4:155,073,295...155,080,860
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Nop2
NOP2 nucleolar protein
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,618,894...159,630,697
Ensembl chr 4:159,618,966...159,630,697
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Nrip2
nuclear receptor interacting protein 2
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:163,359,592...163,370,144
Ensembl chr 4:163,360,665...163,370,141
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Ntf3
neurotrophin 3
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:160,601,161...160,670,623
Ensembl chr 4:160,600,770...160,676,349
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P3h3
prolyl 3-hydroxylase 3
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,332,514...159,348,428
Ensembl chr 4:159,332,434...159,348,004
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Parp11
poly (ADP-ribose) polymerase family, member 11
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:161,984,192...162,030,550
Ensembl chr 4:161,991,042...162,030,557
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Pex5
peroxisomal biogenesis factor 5
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:158,956,973...158,983,581
Ensembl chr 4:158,956,974...158,982,733
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Phb2
prohibitin 2
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,203,948...159,208,561
Ensembl chr 4:159,203,926...159,209,231
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Phc1
polyhomeotic homolog 1
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,182,348...157,205,504
Ensembl chr 4:157,182,348...157,204,709
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Pianp
PILR alpha associated neural protein
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,482,678...159,491,085
Ensembl chr 4:159,482,648...159,491,083
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Plekhg6
pleckstrin homology and RhoGEF domain containing G6
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,849,987...159,885,730
Ensembl chr 4:159,849,364...159,868,122
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Prmt8
protein arginine methyltransferase 8
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:162,221,986...162,304,036
Ensembl chr 4:162,221,986...162,307,310
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Ptms
parathymosin
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,408,647...159,412,837
Ensembl chr 4:159,408,649...159,415,212
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Ptpn6
protein tyrosine phosphatase, non-receptor type 6
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,212,320...159,237,069
Ensembl chr 4:159,212,320...159,237,069
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Rad51ap1
RAD51 associated protein 1
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:161,445,610...161,458,661
Ensembl chr 4:161,445,512...161,458,680
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Rad52
RAD52 homolog, DNA repair protein
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:154,778,320...154,802,002
Ensembl chr 4:154,778,320...154,800,021
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Rhno1
RAD9-HUS1-RAD1 interacting nuclear orphan 1
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:163,320,141...163,325,527
Ensembl chr 4:163,320,049...163,325,790
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Rimklb
ribosomal modification protein rimK-like family member B
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,336,950...157,396,970
Ensembl chr 4:157,344,414...157,378,727
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Scarna10
small Cajal body-specific RNA 10
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,672,790...159,673,117
Ensembl chr 4:159,672,790...159,673,117
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Scarna11
small Cajal body-specific RNA 11
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,609,251...159,609,386
Ensembl chr 4:159,609,251...159,609,386
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Scnn1a
sodium channel epithelial 1 subunit alpha
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,809,187...159,832,409
Ensembl chr 4:159,809,170...159,832,405
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Slc2a3
solute carrier family 2 member 3
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:157,632,887...157,698,034
Ensembl chr 4:157,632,887...157,646,186
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Slc6a12
solute carrier family 6 member 12
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:156,257,518...156,275,870
Ensembl chr 4:156,254,208...156,275,879
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Slc6a13
solute carrier family 6 member 13
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:156,211,381...156,248,491
Ensembl chr 4:156,211,462...156,248,489
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Spsb2
splA/ryanodine receptor domain and SOCS box containing 2
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,298,362...159,301,568
Ensembl chr 4:159,299,159...159,309,021
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Tapbpl
TAP binding protein-like
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,707,686...159,715,137
Ensembl chr 4:159,708,511...159,715,137
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Tead4
TEA domain transcription factor 4
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:163,180,192...163,258,342
Ensembl chr 4:163,180,192...163,258,479
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Tex52
testis expressed 52
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:163,337,320...163,347,948
Ensembl chr 4:163,337,361...163,346,310
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Tigar
TP53 induced glycolysis regulatory phosphatase
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:161,613,306...161,632,248
Ensembl chr 4:161,613,306...161,632,229
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:159,837,032...159,849,816
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Tpi1
triosephosphate isomerase 1
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,301,558...159,305,088
Ensembl chr 4:159,301,562...159,305,413
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Tspan9
tetraspanin 9
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:162,500,029...162,681,699
Ensembl chr 4:162,500,029...162,574,208
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Tulp3
TUB like protein 3
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:163,276,583...163,318,297
Ensembl chr 4:163,276,583...163,318,390
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Usp5
ubiquitin specific peptidase 5
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,305,927...159,321,345
Ensembl chr 4:159,305,938...159,320,956
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Vamp1
vesicle-associated membrane protein 1
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,698,894...159,705,582
Ensembl chr 4:159,698,629...159,713,608
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Vwf
von Willebrand factor
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:160,042,900...160,177,757
Ensembl chr 4:160,047,982...160,177,757
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Wnk1
WNK lysine deficient protein kinase 1
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:154,800,590...154,926,147
Ensembl chr 4:154,800,590...154,926,147
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Wnt5b
Wnt family member 5B
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:154,281,852...154,406,081
Ensembl chr 4:154,281,852...154,405,681
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Zfp384
zinc finger protein 384
ISO
ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1
ClinVar
PMID:25378588 PMID:29389098
NCBI chr 4:159,496,481...159,526,010
Ensembl chr 4:159,496,729...159,526,010
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