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G |
Fgf23 |
fibroblast growth factor 23 |
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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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G |
Dmp1 |
dentin matrix acidic phosphoprotein 1 |
|
ISO ISS |
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive OMIM:241520 | OMIM:613312 |
ClinVar MouseDO |
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NCBI chr14:6,889,851...6,923,961
Ensembl chr14:6,889,856...6,900,733
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G |
Enpp1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
|
ISO ISS |
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive OMIM:241520 | OMIM:613312 |
ClinVar MouseDO |
PMID:9662402 PMID:10453738 PMID:11771660 PMID:16025115 PMID:16609882 PMID:24033266 PMID:28492532 |
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NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
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G |
Fgf23 |
fibroblast growth factor 23 |
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TAS |
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RGD |
PMID:12419819 |
RGD:1303356 |
NCBI chr 4:159,622,404...159,630,082
Ensembl chr 4:159,622,404...159,630,082
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G |
Clcn5 |
chloride voltage-gated channel 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr X:16,170,585...16,196,691
Ensembl chr X:16,050,780...16,196,789
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G |
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 |
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NCBI chr X:40,460,047...40,717,982
Ensembl chr X:40,460,047...40,717,982
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G |
Phyh |
phytanoyl-CoA 2-hydroxylase |
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ISO |
ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT |
ClinVar |
PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 PMID:28492532 |
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NCBI chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530
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G |
Vdr |
vitamin D receptor |
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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 |
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NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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G |
Pth |
parathyroid hormone |
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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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G |
Slc34a1 |
solute carrier family 34 member 1 |
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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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G |
Slc34a3 |
solute carrier family 34 member 3 |
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ISO |
ClinVar Annotator: match by term: HYPERCALCIURIC RICKETS ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria 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 |
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NCBI chr 3:2,448,391...2,454,019
Ensembl chr 3:2,448,381...2,453,933
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G |
Pgap3 |
post-GPI attachment to proteins phospholipase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr10:86,343,058...86,356,146
Ensembl chr10:86,343,064...86,355,006
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G |
Pigo |
phosphatidylinositol glycan anchor biosynthesis, class O |
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ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with Intellectual Disability Syndrome ClinVar Annotator: match by term: Hyperphosphatasia-intellectual disability syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:24033266 PMID:25741868 PMID:28492532 PMID:28545593 |
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NCBI chr 5:58,461,055...58,470,699
Ensembl chr 5:58,461,759...58,469,399
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G |
Pigv |
phosphatidylinositol glycan anchor biosynthesis, class V |
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ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with Intellectual Disability Syndrome CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hyperphosphatasia-intellectual disability syndrome |
ClinVar CTD |
PMID:1724113 PMID:20578257 PMID:20802478 PMID:21739589 PMID:22228761 PMID:22315194 PMID:24033266 PMID:24129430 PMID:25741868 |
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NCBI chr 5:151,886,132...151,899,024
Ensembl chr 5:151,886,035...151,898,022
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G |
Pigw |
phosphatidylinositol glycan anchor biosynthesis, class W |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr10:72,194,774...72,198,415
Ensembl chr10:72,194,929...72,196,437
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G |
Pigy |
phosphatidylinositol glycan anchor biosynthesis, class Y |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 8:23,167,974...23,170,215
Ensembl chr 8:23,167,974...23,170,209
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G |
Pigb |
phosphatidylinositol glycan anchor biosynthesis, class B |
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ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 1 |
ClinVar |
PMID:25326635 PMID:25741868 PMID:31256876 |
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NCBI chr 8:79,691,407...79,715,284
Ensembl chr 8:79,691,407...79,715,284
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G |
Pigg |
phosphatidylinositol glycan anchor biosynthesis, class G |
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ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 1 |
ClinVar |
PMID:25741868 PMID:26996948 PMID:28492532 |
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NCBI chr14:2,410,339...2,438,630
Ensembl chr14:2,410,342...2,438,592
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G |
Pigo |
phosphatidylinositol glycan anchor biosynthesis, class O |
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ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 5:58,461,055...58,470,699
Ensembl chr 5:58,461,759...58,469,399
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G |
Pigv |
phosphatidylinositol glycan anchor biosynthesis, class V |
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ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 1 ClinVar Annotator: match by OMIM:239300 |
OMIM ClinVar |
PMID:1724113 PMID:17351347 PMID:20578257 PMID:20802478 PMID:21739589 PMID:22228761 PMID:22315194 PMID:24033266 PMID:24129430 PMID:24439110 PMID:25741868 PMID:26467025 PMID:27166760 PMID:28492532 |
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NCBI chr 5:151,886,132...151,899,024
Ensembl chr 5:151,886,035...151,898,022
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G |
Arhgef39 |
Rho guanine nucleotide exchange factor 39 |
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ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,998,209...59,001,779
Ensembl chr 5:58,995,249...59,001,800
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G |
Arid3c |
AT-rich interaction domain 3C |
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ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,107,182...58,114,632
Ensembl chr 5:58,107,707...58,113,553
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G |
Ca9 |
carbonic anhydrase 9 |
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ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:59,008,277...59,015,535
Ensembl chr 5:59,008,933...59,015,528
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G |
Ccdc107 |
coiled-coil domain containing 107 |
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ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,995,211...58,998,620
Ensembl chr 5:58,995,249...58,997,953
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G |
Ccl19 |
C-C motif chemokine ligand 19 |
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ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,181,025...58,182,969
Ensembl chr 5:58,181,026...58,183,017
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G |
Ccl21 |
C-C motif chemokine ligand 21 |
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ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,197,678...58,198,782
Ensembl chr 5:58,197,680...58,198,782
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G |
Ccl27 |
C-C motif chemokine ligand 27 |
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ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,159,066...58,166,182
Ensembl chr 5:58,159,066...58,163,584
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G |
Cd72 |
Cd72 molecule |
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ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,943,021...58,950,373
Ensembl chr 5:58,943,027...58,950,373
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G |
Cntfr |
ciliary neurotrophic factor receptor |
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ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,041,114...58,078,687
Ensembl chr 5:58,041,146...58,078,545
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G |
Creb3 |
cAMP responsive element binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:59,063,532...59,068,196
Ensembl chr 5:59,063,531...59,068,188
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G |
Dctn3 |
dynactin subunit 3 |
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ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,098,706...58,106,706
Ensembl chr 5:58,098,706...58,106,706
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G |
Dnai1 |
dynein, axonemal, intermediate chain 1 |
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ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,947,796...58,017,985
Ensembl chr 5:57,947,716...58,017,992
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G |
Dnajb5 |
DnaJ heat shock protein family (Hsp40) member B5 |
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ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,393,197...58,402,162
Ensembl chr 5:58,393,233...58,401,870
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G |
Enho |
energy homeostasis associated |
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ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,018,039...58,019,836
Ensembl chr 5:58,018,039...58,019,836
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G |
Fam166b |
family with sequence similarity 166, member B |
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ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,883,064...58,884,136
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G |
Fam205a |
family with sequence similarity 205, member A |
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ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,282,202...58,303,075
Ensembl chr 5:58,282,379...58,288,125
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G |
Fam214b |
family with sequence similarity 214, member B |
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ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,477,894...58,484,900
Ensembl chr 5:58,477,894...58,484,900
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G |
Fancg |
FA complementation group G |
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ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,448,060...58,456,416
Ensembl chr 5:58,448,822...58,455,819
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G |
Galt |
galactose-1-phosphate uridylyltransferase |
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ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,144,679...58,147,946
Ensembl chr 5:58,144,705...58,147,929
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G |
Gba2 |
glucosylceramidase beta 2 |
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ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:59,068,081...59,079,719
Ensembl chr 5:59,068,081...59,079,719
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G |
Il11ra1 |
interleukin 11 receptor subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,149,150...58,159,072
Ensembl chr 5:58,151,985...58,159,072
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G |
LOC100360821 |
rCG55159-like |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,416,058...58,421,991
Ensembl chr 5:58,416,432...58,420,342
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G |
Msmp |
microseminoprotein, prostate associated |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
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Ensembl chr 5:59,084,626...59,085,676
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G |
Npr2 |
natriuretic peptide receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:59,128,186...59,147,321
Ensembl chr 5:59,128,315...59,147,255
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G |
Phf24 |
PHD finger protein 24 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,359,744...58,387,446
Ensembl chr 5:58,359,498...58,383,070
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G |
Pigo |
phosphatidylinositol glycan anchor biosynthesis, class O |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar Annotator: match by OMIM:614749 |
OMIM ClinVar |
PMID:22683086 PMID:24033266 PMID:24417746 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28545593 PMID:28900819 PMID:30109123 |
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NCBI chr 5:58,461,055...58,470,699
Ensembl chr 5:58,461,759...58,469,399
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G |
Rgp1 |
RGP1 homolog, RAB6A GEF complex partner 1 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:59,080,290...59,088,777
Ensembl chr 5:59,080,765...59,088,523
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G |
Rpp25l |
ribonuclease P/MRP subunit p25 like |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,096,037...58,097,577
Ensembl chr 5:58,096,213...58,097,577
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G |
Rusc2 |
RUN and SH3 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,860,444...58,883,152
Ensembl chr 5:58,855,773...58,882,096
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G |
Sigmar1 |
sigma non-opioid intracellular receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,121,824...58,124,687
Ensembl chr 5:58,121,786...58,124,681
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G |
Sit1 |
signaling threshold regulating transmembrane adaptor 1 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,985,912...58,987,538
Ensembl chr 5:58,985,829...58,987,760
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G |
Spag8 |
sperm associated antigen 8 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,147,412...59,149,625
Ensembl chr 5:59,147,337...59,149,699
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G |
Stoml2 |
stomatin like 2 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,472,561...58,476,158
Ensembl chr 5:58,472,550...58,476,251
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G |
Tesk1 |
testis associated actin remodelling kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,937,615...58,943,358
Ensembl chr 5:58,937,615...58,943,358
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G |
Tln1 |
talin 1 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,033,635...59,063,592
Ensembl chr 5:59,033,636...59,063,592
|
|
G |
Tpm2 |
tropomyosin 2 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631
|
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G |
Unc13b |
unc-13 homolog B |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,505,449...58,714,396
Ensembl chr 5:58,505,500...58,715,576
|
|
G |
Vcp |
valosin-containing protein |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
|
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|
G |
Pgap2 |
post-GPI attachment to proteins 2 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 3 ClinVar Annotator: match by OMIM:614207 |
OMIM ClinVar |
PMID:21629298 PMID:21643797 PMID:23561846 PMID:23561847 PMID:25741868 PMID:25741869 |
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NCBI chr 1:167,309,021...167,335,550
Ensembl chr 1:167,309,051...167,334,741
|
|
|
G |
Pgap3 |
post-GPI attachment to proteins phospholipase 3 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 4 ClinVar Annotator: match by OMIM:615716 |
OMIM ClinVar |
PMID:22315194 PMID:24439110 PMID:25741868 PMID:26833330 PMID:27120253 PMID:28390064 PMID:29620724 PMID:30217754 PMID:30345601 PMID:32860008 |
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NCBI chr10:86,343,058...86,356,146
Ensembl chr10:86,343,064...86,355,006
|
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|
G |
Aatf |
apoptosis antagonizing transcription factor |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:71,744,648...71,837,851
Ensembl chr10:71,744,659...71,837,851
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|
G |
Acaca |
acetyl-CoA carboxylase alpha |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:71,519,392...71,719,910
Ensembl chr10:71,536,533...71,719,910
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G |
Dhrs11 |
dehydrogenase/reductase 11 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:72,144,042...72,153,496
Ensembl chr10:72,144,042...72,153,375
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|
G |
Ggnbp2 |
gametogenetin binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:72,156,729...72,188,834
Ensembl chr10:72,156,728...72,188,308
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|
G |
Lhx1 |
LIM homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:71,843,991...71,849,293
Ensembl chr10:71,843,991...71,849,293
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|
G |
Mrm1 |
mitochondrial rRNA methyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:72,136,241...72,143,075
Ensembl chr10:72,136,246...72,142,533
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|
G |
Myo19 |
myosin XIX |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:72,198,475...72,227,892
Ensembl chr10:72,197,977...72,227,462
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G |
Pigw |
phosphatidylinositol glycan anchor biosynthesis, class W |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 |
ClinVar OMIM |
PMID:24367057 PMID:25741868 PMID:27626616 PMID:28492532 |
|
NCBI chr10:72,194,774...72,198,415
Ensembl chr10:72,194,929...72,196,437
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|
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G |
Pigy |
phosphatidylinositol glycan anchor biosynthesis, class Y |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 6 |
ClinVar OMIM |
PMID:26293662 |
|
NCBI chr 8:23,167,974...23,170,215
Ensembl chr 8:23,167,974...23,170,209
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|
G |
Pyurf |
PIGY upstream reading frame |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 6 |
ClinVar |
PMID:26293662 |
|
NCBI chr 4:88,584,242...88,587,877
Ensembl chr 4:88,584,242...88,587,877
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|
|
G |
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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G |
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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G |
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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|
G |
Pth |
parathyroid hormone |
|
IDA ISO |
associated with Kidney Failure, Chronic CTD Direct Evidence: marker/mechanism associated with Kidney Failure, Chronic |
CTD |
PMID:12399635, PMID:23548309, PMID:23211335 |
RGD:7242565, RGD:7242693 |
NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
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G |
Slc34a1 |
solute carrier family 34 member 1 |
|
ISO |
protein:increased expression:kidney (mouse) |
RGD |
PMID:18835926, PMID:20418498 |
RGD:7242940, RGD:7243099 |
NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
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G |
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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|
G |
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
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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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|
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G |
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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|
G |
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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|
G |
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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|
G |
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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|
G |
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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|
G |
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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G |
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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G |
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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|
G |
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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|
G |
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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|
G |
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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G |
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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|
G |
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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|
G |
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
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|
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
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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
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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
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|
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
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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
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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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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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
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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
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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
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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
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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
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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
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|
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
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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
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|
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
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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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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|
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
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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
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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
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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
|
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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|
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
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|
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
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|
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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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|
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
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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
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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
|
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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
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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
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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
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|
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
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|
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
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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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G |
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
|
|
G |
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
|
|
G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
G |
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
|
|
|
G |
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:25741868 PMID:26467025 PMID:28492532 PMID:29389098 |
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NCBI chr 4:159,622,404...159,630,082
Ensembl chr 4:159,622,404...159,630,082
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G |
Kl |
Klotho |
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ISO |
ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 3 |
OMIM ClinVar |
PMID:17710231 PMID:25741868 PMID:28492532 PMID:29389098 |
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NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
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G |
Nr1i2 |
nuclear receptor subfamily 1, group I, member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19898264 |
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NCBI chr11:65,022,100...65,058,546
Ensembl chr11:65,022,100...65,058,545
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G |
Slc34a1 |
solute carrier family 34 member 1 |
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ISO IEP |
CTD Direct Evidence: marker/mechanism protein:altered expression:renal cortex, brush border membrane (rat) mRNA:decreased expression:kidney (mouse) |
CTD |
PMID:9560283, PMID:19515808, PMID:20466874, PMID:9560283, PMID:19933269 |
RGD:7242939, RGD:7243098, RGD:7243007, RGD:7242942 |
NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
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F12 |
coagulation factor XII |
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ISO |
ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis |
ClinVar |
PMID:8528215 PMID:9354665 PMID:21920016 PMID:23348723 PMID:24029428 PMID:24033266 PMID:25524745 PMID:25741868 PMID:28492532 |
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NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420
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G |
Slc34a1 |
solute carrier family 34 member 1 |
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ISO |
ClinVar Annotator: match by term: Hypophosphatemic Nephrolithiasis/Osteoporosis |
ClinVar |
PMID:8528215 PMID:9354665 PMID:21920016 PMID:23348723 PMID:24029428 PMID:24033266 PMID:25524745 PMID:25741868 PMID:28492532 |
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NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
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G |
F12 |
coagulation factor XII |
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ISO |
ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic, 1 |
ClinVar |
PMID:28492532 |
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NCBI chr17:9,736,577...9,744,420
Ensembl chr17:9,736,577...9,744,420
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G |
Slc34a1 |
solute carrier family 34 member 1 |
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ISO |
ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic, 1 ClinVar Annotator: match by OMIM:612286 |
OMIM ClinVar |
PMID:12324554 PMID:16688119 PMID:24033266 PMID:25082825 PMID:25741868 PMID:26047794 PMID:26272126 PMID:27378183 PMID:28492532 PMID:28893421 |
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NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
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G |
Slc9a3r1 |
SLC9A3 regulator 1 |
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ISO |
ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic, 2 ClinVar Annotator: match by OMIM:612287 |
OMIM ClinVar |
PMID:18784102 PMID:24033266 PMID:25326635 PMID:25741868 PMID:28492532 PMID:28893421 |
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NCBI chr10:103,713,045...103,730,145
Ensembl chr10:103,713,045...103,730,145
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G |
Dmp1 |
dentin matrix acidic phosphoprotein 1 |
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ISO |
ClinVar Annotator: match by term: Hypophosphatemic rickets |
ClinVar |
PMID:24033266 |
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NCBI chr14:6,889,851...6,923,961
Ensembl chr14:6,889,856...6,900,733
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G |
Fam20c |
FAM20C, golgi associated secretory pathway kinase |
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ISO |
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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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G |
Fgf23 |
fibroblast growth factor 23 |
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ISO |
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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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G |
Phex |
phosphate regulating endopeptidase homolog, X-linked |
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ISO |
ClinVar Annotator: match by term: HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS |
ClinVar |
PMID:25741868 |
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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 |
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ISO |
ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS |
ClinVar |
PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 PMID:28492532 |
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NCBI chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530
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Vdr |
vitamin D receptor |
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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 |
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NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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G |
Dmp1 |
dentin matrix acidic phosphoprotein 1 |
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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 |
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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 |
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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: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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Pth |
parathyroid hormone |
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IEP |
protein:decreased expression:serum (rat) |
RGD |
PMID:22859939 |
RGD:8655928 |
NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
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Bglap |
bone gamma-carboxyglutamate protein |
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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
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G |
Fam20c |
FAM20C, golgi associated secretory pathway kinase |
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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
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Phex |
phosphate regulating endopeptidase homolog, X-linked |
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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:24102521 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
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Clcn5 |
chloride voltage-gated channel 5 |
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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 |
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NCBI chr X:16,170,585...16,196,691
Ensembl chr X:16,050,780...16,196,789
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