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: Metabolic Bone Diseases
Accession: DOID:9002278
browse the term
Definition: Diseases that affect the METABOLIC PROCESSES of BONE TISSUE.
Synonyms: exact_synonym: Metabolic Bone Disease; osteopenia; osteopenias
primary_id: MESH:D001851
alt_id: RDO:0001042
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Alpl
alkaline phosphatase, biomineralization associated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26773408
NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446
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Ankrd11
ankyrin repeat domain containing 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17986521
NCBI chr19:50,940,284...51,098,962
Ensembl chr19:50,940,299...51,098,962
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Card11
caspase recruitment domain family, member 11
ISO
ClinVar Annotator: match by term: Osteopenia
ClinVar
PMID:18323416 PMID:23027925 PMID:23129749 PMID:25352053 PMID:25741868 PMID:26861442 PMID:28492532 PMID:28824638 PMID:29472930 More...
NCBI chr12:13,621,140...13,758,115
Ensembl chr12:13,621,087...13,758,112
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Cebpa
CCAAT/enhancer binding protein alpha
ISO
protein:increased expression:thigh bone (mouse)
RGD
PMID:21982926
RGD:10401269
NCBI chr 1:87,759,631...87,762,303
Ensembl chr 1:87,759,433...87,762,412
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Cftr
CF transmembrane conductance regulator
ISO
associated with Cystic Fibrosis;DNA:deletion: :p.F508del (mouse)
RGD
PMID:20570219
RGD:11566031
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
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Col1a1
collagen type I alpha 1 chain
ISO
ClinVar Annotator: match by term: Osteopenia
ClinVar
PMID:7942841 PMID:8364588 PMID:9295084 PMID:9443882 PMID:16199547 PMID:25741868 PMID:28492532 PMID:31447884 More...
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Ctc1
CST telomere replication complex component 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22267198
NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
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Cyp27a1
cytochrome P450, family 27, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24381012
NCBI chr 9:76,264,655...76,294,551
Ensembl chr 9:76,264,860...76,294,551
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Cyp2r1
cytochrome P450, family 2, subfamily r, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24381012
NCBI chr 1:168,749,302...168,798,079
Ensembl chr 1:168,751,038...168,797,759
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Dhcr7
7-dehydrocholesterol reductase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24381012
NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055
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Dkk1
dickkopf WNT signaling pathway inhibitor 1
ISO IDA
associated with Diabetes Mellitus, Experimental
RGD
PMID:21773994 PMID:21567076
RGD:6907379 , RGD:6907380
NCBI chr 1:228,381,521...228,385,202
Ensembl chr 1:228,381,521...228,385,202
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Esr1
estrogen receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18505767
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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Gc
GC, vitamin D binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24381012
NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567
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Gnas
GNAS complex locus
ISO
Albright hereditary osteodystrophy,OMIM:103580;DNA:deletion
RGD
PMID:2122458
RGD:1601375
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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Igf1
insulin-like growth factor 1
treatment
ISO IEP
associated with Diabetes Mellitus, Experimental CTD Direct Evidence: therapeutic
CTD RGD
PMID:11014614 PMID:8619365 PMID:21567076
RGD:10402812 , RGD:6907380
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Igf1r
insulin-like growth factor 1 receptor
treatment
IEP
associated with Diabetes Mellitus, Experimental
RGD
PMID:21567076
RGD:6907380
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
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Igfbp3
insulin-like growth factor binding protein 3
treatment
ISO
RGD
PMID:8619365
RGD:10402812
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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Il7
interleukin 7
ISO
RGD
PMID:18992278
RGD:10402929
NCBI chr 2:94,235,219...94,280,075
Ensembl chr 2:94,234,766...94,280,075
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Kcnma1
potassium calcium-activated channel subfamily M alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21695131
NCBI chr15:302,480...1,007,675
Ensembl chr15:302,214...1,001,198
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Lrp2
LDL receptor related protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10052453
NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
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Lrp5
LDL receptor related protein 5
treatment
ISO
DNA:missense mutations:cds:p.A214V,p.G171V(mouse)
RGD
PMID:26554834
RGD:11343819
NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
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Mmp2
matrix metallopeptidase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17440987
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Phospho1
phosphoethanolamine/phosphocholine phosphatase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26773408
NCBI chr10:80,762,062...80,769,596
Ensembl chr10:80,760,792...80,770,342
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Slc20a1
solute carrier family 20 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26773408
NCBI chr 3:116,427,095...116,441,049
Ensembl chr 3:116,427,098...116,441,051
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Gnas
GNAS complex locus
ISO ISS
ClinVar Annotator: match by term: Albright hereditary osteodystrophy with multiple hormone resistance | ClinVar Annotator: match by term: PHP IA | ClinVar Annotator: match by term: PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS | ClinVar Annotator: match by term: Pseudohypoparathyroidism Type IA | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1A OMIM:103580 DNA:deletions:exon:multiple DNA:splice-site mutation
OMIM ClinVar MouseDO RGD
PMID:1505964 PMID:1517386 PMID:1594625 PMID:1944469 PMID:2109828 PMID:2549426 PMID:3720010 PMID:8072545 PMID:8388883 PMID:8702665 PMID:9159128 PMID:9727013 PMID:9876352 PMID:10571700 PMID:10980525 PMID:11092390 PMID:11093740 PMID:11412411 PMID:11450852 PMID:11600516 PMID:11784876 PMID:12024004 PMID:12621129 PMID:12727968 PMID:12970318 PMID:15126527 PMID:15711092 PMID:15952988 PMID:16507630 PMID:18553568 PMID:18796523 PMID:20427508 PMID:21525160 PMID:21835143 PMID:23281139 PMID:23403822 PMID:23533243 PMID:23536913 PMID:23796510 PMID:23843956 PMID:23884777 PMID:24033266 PMID:24088041 PMID:24481334 PMID:24626099 PMID:24728327 PMID:24855271 PMID:24914079 PMID:24982418 PMID:25044890 PMID:25157968 PMID:25219572 PMID:25719192 PMID:25741868 PMID:25802881 PMID:26341786 PMID:26574629 PMID:26619011 PMID:26633545 PMID:27398169 PMID:27506760 PMID:27703483 PMID:28492532 PMID:28708303 PMID:29059381 PMID:29072892 PMID:29095814 PMID:29379892 PMID:29628140 PMID:29970488 PMID:29991465 PMID:30349702 PMID:30674755 PMID:30702195 PMID:30729047 PMID:31793173 PMID:31886927 PMID:33144682 PMID:34008892 PMID:34254228 PMID:34418133 PMID:34614324 PMID:35296306 PMID:35357904 PMID:35497370 PMID:11095461 PMID:11600516 More...
RGD:11568049 , RGD:11568047
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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Pthlh
parathyroid hormone-like hormone
ISS
OMIM:103580
MouseDO
NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847
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Fgf23
fibroblast growth factor 23
ISO ISS
DNA:missense mutations:exon:p.R176Q (527G>A), p.R179W (535C>T), p.R179Q (536G>A) (human) OMIM:193100 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets | ClinVar Annotator: match by term: Hypophosphatemic Rickets, Dominant | ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS, AUTOSOMAL DOMINANT DNA:missense mutation:cds:526C>T,p.R176W (human)
MouseDO CTD ClinVar OMIM RGD
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:25741868 PMID:26186302 PMID:26467025 PMID:28492532 PMID:31486862 PMID:32415663 PMID:35738466 PMID:11062477 PMID:19655082 More...
RGD:1598933 , RGD:10044239
NCBI chr 4:159,914,267...159,923,821
Ensembl chr 4:159,914,272...159,923,821
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Phex
phosphate regulating endopeptidase X-linked
ISO
ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets
ClinVar
PMID:9199930 PMID:9768674 PMID:10439971 PMID:14564066 PMID:14564077 PMID:16055933 PMID:19219621 PMID:21902834 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32329911 More...
NCBI chr X:37,607,553...37,856,183
Ensembl chr X:37,610,760...37,854,469
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Dmp1
dentin matrix acidic phosphoprotein 1
ISO ISS
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive OMIM:241520 | OMIM:613312
ClinVar MouseDO
NCBI chr14:5,528,441...5,542,078
Ensembl chr14:5,528,431...5,539,323
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Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Hypophosphatemic Rickets, Recessive
ClinVar
PMID:9662402 PMID:10453738 PMID:11771660 PMID:16025115 PMID:16609882 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
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Dnaaf2
dynein, axonemal, assembly factor 2
ISO
ClinVar Annotator: match by term: Alkuraya syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIa
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:87,661,101...87,670,267
Ensembl chr 6:87,660,821...87,670,199
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Mgat2
alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
ISO ISS
OMIM:212066 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alkuraya syndrome | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2A | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIa
OMIM MouseDO CTD ClinVar
PMID:8808595 PMID:11228641 PMID:20684000 PMID:22105986 PMID:23806237 PMID:25558065 PMID:25741868 PMID:28492532 PMID:28742265 More...
NCBI chr 6:87,656,360...87,658,849
Ensembl chr 6:87,656,349...87,658,177
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Clcn5
chloride voltage-gated channel 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr X:15,185,380...15,339,977
Ensembl chr X:15,185,451...15,334,264
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Phex
phosphate regulating endopeptidase 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 More...
NCBI chr X:37,607,553...37,856,183
Ensembl chr X:37,610,760...37,854,469
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Phyh
phytanoyl-CoA 2-hydroxylase
ISO
ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT
ClinVar
PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 PMID:28492532 More...
NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409
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Prss1
serine protease 1
ISO
ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT
ClinVar
PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 PMID:10204851 PMID:10514442 PMID:10691414 PMID:10801865 PMID:10835640 PMID:10872414 PMID:10909845 PMID:10982753 PMID:11097832 PMID:11247900 PMID:11312265 PMID:11719509 PMID:11788572 PMID:11842279 PMID:11932257 PMID:11950817 PMID:12011155 PMID:12853682 PMID:15028953 PMID:15776435 PMID:15786540 PMID:16632094 PMID:17204147 PMID:17568390 PMID:18286680 PMID:18511571 PMID:18755888 PMID:19453252 PMID:21415673 PMID:22379635 PMID:22539344 PMID:23143602 PMID:24002981 PMID:24458023 PMID:24525505 PMID:25741868 PMID:27578509 PMID:27673710 PMID:28492532 PMID:28861620 PMID:30420730 More...
NCBI chr 4:70,364,589...70,367,792
Ensembl chr 4:70,364,586...70,367,792
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Vdr
vitamin D receptor
ISO
ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets | 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:9536098 PMID:10204116 PMID:10707958 PMID:11564167 PMID:17130574 PMID:17371163 PMID:17576681 PMID:17970811 PMID:18159135 PMID:18279374 PMID:18593774 PMID:19049339 PMID:19169476 PMID:19682379 PMID:20200114 PMID:21073129 PMID:21168462 PMID:21424181 PMID:21931507 PMID:22145479 PMID:23180655 PMID:24033266 PMID:24246681 PMID:24859502 PMID:25741868 PMID:26177022 PMID:26198224 PMID:26590811 PMID:26631034 PMID:26787776 PMID:27164139 PMID:27607899 PMID:27778467 PMID:28492532 PMID:28620554 PMID:29949513 PMID:30967742 PMID:31557081 PMID:35738466 PMID:37080976 More...
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Chpt1
choline phosphotransferase 1
ISO
ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy
ClinVar
PMID:16200072 PMID:16465621 PMID:16630736 PMID:19634183 PMID:25741868 PMID:27662472 PMID:28492532 More...
NCBI chr 7:22,866,455...22,915,111
Ensembl chr 7:22,863,027...22,915,103
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Gnptab
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
ISO
ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy | ClinVar Annotator: match by term: Type III Mucolipidosis
ClinVar
PMID:9536098 PMID:15633164 PMID:16094673 PMID:16116615 PMID:16199547 PMID:16200072 PMID:16465621 PMID:16630736 PMID:17576681 PMID:18190596 PMID:19197337 PMID:19617216 PMID:19634183 PMID:19659762 PMID:19938078 PMID:20147709 PMID:20301728 PMID:20886637 PMID:20944643 PMID:21416587 PMID:21549105 PMID:23192343 PMID:23227064 PMID:23566849 PMID:23926388 PMID:24045841 PMID:24375680 PMID:24550498 PMID:24767253 PMID:25107912 PMID:25505245 PMID:25525159 PMID:25741868 PMID:25741909 PMID:25788519 PMID:26130485 PMID:26385638 PMID:26633542 PMID:26749367 PMID:27180337 PMID:27662472 PMID:27710913 PMID:28095893 PMID:28492532 PMID:28649523 PMID:28918368 PMID:29704188 PMID:29872134 PMID:30208878 PMID:30882951 PMID:31579991 PMID:31589614 PMID:31934135 PMID:32651481 PMID:34426522 PMID:34440436 PMID:34645491 More...
NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933
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Gnptg
N-acetylglucosamine-1-phosphate transferase subunit gamma
ISO
mucolipidosis IIIC
RGD
PMID:10712439
RGD:1599045
NCBI chr10:14,252,186...14,257,128
Ensembl chr10:14,251,136...14,257,096
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Mcoln1
mucolipin TRP cation channel 1
ISO
RGD
PMID:10973263
RGD:1599926
NCBI chr12:1,560,341...1,574,252
Ensembl chr12:1,560,359...1,574,252
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Neu1
neuraminidase 1
ISS ISO
OMIM:256550 ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Cherry red spot myoclonus syndrome | ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Sialidosis ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Cherry red spot myoclonus syndrome | ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy | ClinVar Annotator: match by term: Sialidosis
MouseDO ClinVar
PMID:9054950 PMID:9536098 PMID:10767332 PMID:10944856 PMID:11063730 PMID:11279074 PMID:11470272 PMID:11702224 PMID:11829139 PMID:14517945 PMID:14695530 PMID:15908988 PMID:16361247 PMID:16538002 PMID:16712870 PMID:17576681 PMID:18343720 PMID:19415310 PMID:19568825 PMID:20706754 PMID:21214877 PMID:23291686 PMID:23391804 PMID:24808020 PMID:25153125 PMID:25401298 PMID:25600812 PMID:25741868 PMID:26141460 PMID:28492532 PMID:29018767 PMID:29414417 PMID:30023283 PMID:30548430 PMID:30941624 PMID:31711734 PMID:32453490 PMID:32472645 PMID:32485644 PMID:32752208 PMID:33121223 PMID:33502066 PMID:34421504 PMID:34476202 PMID:34992946 PMID:35036219 More...
NCBI chr20:3,897,480...3,901,745
Ensembl chr20:3,897,480...3,901,745
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Sgcb
sarcoglycan, beta
ISO
ClinVar Annotator: match by term: Sialidosis
ClinVar
PMID:9032047 PMID:28492532 PMID:33250842
NCBI chr14:34,563,614...34,578,614
Ensembl chr14:34,563,608...34,578,583
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Pth
parathyroid hormone
ISO
protein:decreased expression:plasma (mouse)
RGD
PMID:19570882
RGD:7242924
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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Slc34a1
solute carrier family 34 member 1
ISO ISS
OMIM:241530 DNA:deletions, snps:multiple (human)
MouseDO RGD
PMID:19570882 PMID:16358215
RGD:7242924 , RGD:7242925
NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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Slc34a3
solute carrier family 34 member 3
ISO
ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria | ClinVar Annotator: match by term: SLC34A3-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2983203 PMID:9536098 PMID:16199547 PMID:16358214 PMID:16358215 PMID:16849419 PMID:17576681 PMID:18523928 PMID:18996815 PMID:19820004 PMID:20074341 PMID:21344632 PMID:22159077 PMID:22387237 PMID:24033266 PMID:24176905 PMID:24246249 PMID:25741868 PMID:26399350 PMID:26789268 PMID:28492532 PMID:29505567 PMID:29809158 PMID:30798342 PMID:31440709 PMID:31672324 PMID:32524022 PMID:32963591 PMID:33223529 PMID:33226606 PMID:33532864 PMID:34805638 PMID:35689455 PMID:36596813 PMID:36699160 More...
NCBI chr 3:8,044,294...8,050,034
Ensembl chr 3:8,044,296...8,049,970
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F12
coagulation factor XII
ISO
ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic
ClinVar
PMID:24033266 PMID:25050900 PMID:25741868 PMID:28492532 PMID:30943683
NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530
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Slc34a1
solute carrier family 34 member 1
ISO
ClinVar Annotator: match by term: Nephrolithiasis/osteoporosis, hypophosphatemic
ClinVar
PMID:24033266 PMID:25050900 PMID:25741868 PMID:28492532 PMID:30943683
NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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F12
coagulation factor XII
ISO
ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1
ClinVar
PMID:25050900 PMID:25741868 PMID:28492532 PMID:30943683
NCBI chr17:9,207,683...9,215,530
Ensembl chr17:9,207,683...9,215,530
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Slc34a1
solute carrier family 34 member 1
ISO
ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1
OMIM ClinVar
PMID:9536098 PMID:12324554 PMID:14672348 PMID:16199547 PMID:16688119 PMID:17576681 PMID:21597970 PMID:24033266 PMID:25050900 PMID:25082825 PMID:25296721 PMID:25741868 PMID:26047794 PMID:26272126 PMID:26787776 PMID:27378183 PMID:28492532 PMID:28893421 PMID:29924459 PMID:29959532 PMID:30778725 PMID:30943683 PMID:31672324 PMID:33099630 PMID:33226606 PMID:33536578 PMID:34805638 More...
NCBI chr17:9,218,876...9,233,852
Ensembl chr17:9,218,876...9,233,852
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Slc34a3
solute carrier family 34 member 3
ISO
ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1
ClinVar
PMID:25741868 PMID:28492532 PMID:31672324
NCBI chr 3:8,044,294...8,050,034
Ensembl chr 3:8,044,296...8,049,970
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Nherf1
NHERF family PDZ scaffold protein 1
ISO
ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 2
OMIM ClinVar
PMID:18784102 PMID:24033266 PMID:25326635 PMID:25741868 PMID:28492532 PMID:28893421 More...
NCBI chr10:100,403,189...100,420,290
Ensembl chr10:100,403,069...100,420,598
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Clcn5
chloride voltage-gated channel 5
ISO
ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets
ClinVar
PMID:9734595 PMID:10469281 PMID:16822791 PMID:16861240 PMID:24081861 PMID:25741868 More...
NCBI chr X:15,185,380...15,339,977
Ensembl chr X:15,185,451...15,334,264
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Dmp1
dentin matrix acidic phosphoprotein 1
ISO
ClinVar Annotator: match by term: Hypophosphatemic rickets
ClinVar
PMID:24033266 PMID:25741868 PMID:35738466
NCBI chr14:5,528,441...5,542,078
Ensembl chr14:5,528,431...5,539,323
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Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Hypophosphatemic rickets
ClinVar
PMID:10480624 PMID:11739459 PMID:12881724 PMID:14671192 PMID:14988267 PMID:15001634 PMID:15126519 PMID:16025115 PMID:16607460 PMID:16968801 PMID:18950909 PMID:20981035 PMID:25741868 PMID:27238374 PMID:28492532 PMID:29979387 PMID:35738466 More...
NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
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Fam20c
FAM20C, golgi associated secretory pathway kinase
ISO
RGD
PMID:22615579
RGD:11558021
NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543
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Fgf23
fibroblast growth factor 23
ISO
ClinVar Annotator: match by term: Hypophosphatemic rickets
ClinVar RGD
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:21880793 PMID:25741868 PMID:26186302 PMID:28492532 PMID:35738466 PMID:14988389 More...
RGD:10044208
NCBI chr 4:159,914,267...159,923,821
Ensembl chr 4:159,914,272...159,923,821
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Hypophosphatemic rickets
ClinVar
PMID:25741868 PMID:35738466
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Hypophosphatemic rickets
ClinVar
PMID:25741868 PMID:35738466
NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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Phex
phosphate regulating endopeptidase X-linked
ISO
ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets | ClinVar Annotator: match by term: Hypophosphatemic rickets
ClinVar
PMID:9097956 PMID:9106524 PMID:9199930 PMID:9768674 PMID:10737991 PMID:11004247 PMID:11468271 PMID:11502829 PMID:12414858 PMID:12727977 PMID:16199547 PMID:16636593 PMID:18162710 PMID:18625346 PMID:19219621 PMID:21902834 PMID:21994957 PMID:22261628 PMID:22695891 PMID:23079138 PMID:23466123 PMID:24684036 PMID:24836714 PMID:25031893 PMID:25741868 PMID:26040324 PMID:26377240 PMID:26467025 PMID:27840894 PMID:28492532 PMID:29460029 PMID:29505567 PMID:29707405 PMID:29858904 PMID:30298486 PMID:30607568 PMID:30682568 PMID:35738466 More...
NCBI chr X:37,607,553...37,856,183
Ensembl chr X:37,610,760...37,854,469
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Phyh
phytanoyl-CoA 2-hydroxylase
ISO
ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS
ClinVar
PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 PMID:28492532 More...
NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409
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Prss1
serine protease 1
ISO
ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS
ClinVar
PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 PMID:10204851 PMID:10514442 PMID:10691414 PMID:10801865 PMID:10835640 PMID:10872414 PMID:10909845 PMID:10982753 PMID:11097832 PMID:11247900 PMID:11312265 PMID:11719509 PMID:11788572 PMID:11842279 PMID:11932257 PMID:11950817 PMID:12011155 PMID:12853682 PMID:15028953 PMID:15776435 PMID:15786540 PMID:16632094 PMID:17204147 PMID:17568390 PMID:18286680 PMID:18511571 PMID:18755888 PMID:19453252 PMID:21415673 PMID:22379635 PMID:22539344 PMID:23143602 PMID:24002981 PMID:24458023 PMID:24525505 PMID:25741868 PMID:27578509 PMID:27673710 PMID:28492532 PMID:28861620 PMID:30420730 More...
NCBI chr 4:70,364,589...70,367,792
Ensembl chr 4:70,364,586...70,367,792
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Vdr
vitamin D receptor
ISO
ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS | ClinVar Annotator: match by term: Hypophosphatemia, 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:9536098 PMID:10204116 PMID:10707958 PMID:11564167 PMID:17130574 PMID:17371163 PMID:17576681 PMID:17970811 PMID:18159135 PMID:18279374 PMID:18593774 PMID:19049339 PMID:19169476 PMID:19682379 PMID:20200114 PMID:21073129 PMID:21168462 PMID:21424181 PMID:21931507 PMID:22145479 PMID:23180655 PMID:24033266 PMID:24246681 PMID:24859502 PMID:25741868 PMID:26177022 PMID:26198224 PMID:26590811 PMID:26631034 PMID:26787776 PMID:27164139 PMID:27607899 PMID:27778467 PMID:28492532 PMID:28620554 PMID:29949513 PMID:30967742 PMID:31557081 PMID:35738466 PMID:37080976 More...
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Wdr72
WD repeat domain 72
ISO
ClinVar Annotator: match by term: Hypophosphatemic rickets
ClinVar
PMID:31959358
NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229
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Dmp1
dentin matrix acidic phosphoprotein 1
ISO
ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:16294270 PMID:17033621 PMID:17033625 PMID:17576681 PMID:19007919 PMID:21050253 PMID:25741868 PMID:28492532 More...
NCBI chr14:5,528,441...5,542,078
Ensembl chr14:5,528,431...5,539,323
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Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
susceptibility
ISO
ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 2 CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.Y901S (human)
OMIM ClinVar CTD RGD
PMID:9662402 PMID:10453738 PMID:10480624 PMID:11739459 PMID:11771660 PMID:12881724 PMID:14671192 PMID:14988267 PMID:15001634 PMID:15126519 PMID:15605415 PMID:15677494 PMID:16025115 PMID:16369898 PMID:16607460 PMID:16609882 PMID:16968801 PMID:18950909 PMID:19229237 PMID:20016754 PMID:20137772 PMID:20137773 PMID:20981035 PMID:22539483 PMID:24033266 PMID:25741868 PMID:26857895 PMID:27238374 PMID:27467858 PMID:28377967 PMID:28492532 PMID:29244957 PMID:29979387 PMID:31826312 PMID:34609116 PMID:35738466 PMID:20137773 PMID:20137772 More...
RGD:6906930 , RGD:6906931
NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
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Lrp5
LDL receptor related protein 5
ISO
DNA:mutations:exon:c.3446 T > A (p.L1149Q),c.3553 G > A (p.G1185R)(human)
RGD
PMID:22487062
RGD:12793058
NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
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Cdc42
cell division cycle 42
ISS
OMIM:251850
MouseDO
NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111
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Myo5b
myosin Vb
ISO ISS
ClinVar Annotator: match by term: Congenital familial protracted diarrhea with enterocyte brush-border abnormalities | ClinVar Annotator: match by term: Congenital microvillous atrophy | ClinVar Annotator: match by term: Diarrhea with Microvillus Atrophy | ClinVar Annotator: match by term: MYO5B-related condition OMIM:251850 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18724368 PMID:19006234 PMID:20186687 PMID:21206382 PMID:21282656 PMID:24014347 PMID:24033266 PMID:25111220 PMID:25741868 PMID:26553929 PMID:27242896 PMID:27532546 PMID:28027573 PMID:28492532 PMID:28899465 PMID:29218485 PMID:29266534 PMID:31750554 PMID:32304554 PMID:32888943 PMID:33525641 More...
NCBI chr18:68,038,759...68,341,568
Ensembl chr18:68,038,759...68,338,745
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Gnptab
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
ISO ISS
ClinVar Annotator: match by term: Mucolipidosis type II OMIM:252500
OMIM ClinVar MouseDO
PMID:9536098 PMID:15633164 PMID:16116615 PMID:16199547 PMID:16200072 PMID:16465621 PMID:16630736 PMID:17034777 PMID:17576681 PMID:18190596 PMID:19197337 PMID:19617216 PMID:19634183 PMID:19659762 PMID:19938078 PMID:20147709 PMID:20301728 PMID:20301730 PMID:20886637 PMID:20944643 PMID:21416587 PMID:21549105 PMID:22495880 PMID:23192343 PMID:23227064 PMID:23566849 PMID:23773965 PMID:23926388 PMID:24033266 PMID:24045841 PMID:24060719 PMID:24375680 PMID:24550498 PMID:24767253 PMID:24798265 PMID:24807205 PMID:25107912 PMID:25473036 PMID:25505245 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25741909 PMID:25741916 PMID:25788519 PMID:26130485 PMID:26274329 PMID:26385638 PMID:26633542 PMID:27180337 PMID:27239697 PMID:27662472 PMID:27710913 PMID:28095893 PMID:28396763 PMID:28492532 PMID:28649523 PMID:28918368 PMID:29140481 PMID:29704188 PMID:29872134 PMID:29966168 PMID:30105123 PMID:30208878 PMID:30882951 PMID:31003007 PMID:31130284 PMID:31319225 PMID:31405983 PMID:31579991 PMID:31589614 PMID:31603145 PMID:31785789 PMID:31795562 PMID:31934135 PMID:32014045 PMID:32341820 PMID:32651481 PMID:32746448 PMID:32860008 PMID:33000604 PMID:33594065 PMID:34008892 PMID:34426522 PMID:34440436 PMID:34645491 PMID:35463894 More...
NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933
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Gnptab
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
ISO
ClinVar Annotator: match by term: Mucolipidosis III alpha/beta, atypical
ClinVar
PMID:9536098 PMID:15633164 PMID:17576681 PMID:28492532
NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933
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Gnptab
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
ISO
ClinVar Annotator: match by term: Mucolipidosis, Type III Alpha/Beta | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy
OMIM ClinVar
PMID:9536098 PMID:15633164 PMID:16094673 PMID:16116615 PMID:16199547 PMID:16200072 PMID:16465621 PMID:16630736 PMID:17576681 PMID:18190596 PMID:19197337 PMID:19617216 PMID:19634183 PMID:19659762 PMID:19938078 PMID:20147709 PMID:20301728 PMID:20886637 PMID:20944643 PMID:21416587 PMID:21549105 PMID:23192343 PMID:23227064 PMID:23566849 PMID:23926388 PMID:24045841 PMID:24375680 PMID:24550498 PMID:24767253 PMID:25107912 PMID:25505245 PMID:25525159 PMID:25741868 PMID:25788519 PMID:26130485 PMID:26385638 PMID:26633542 PMID:26749367 PMID:27180337 PMID:27662472 PMID:27710913 PMID:28095893 PMID:28492532 PMID:28649523 PMID:28918368 PMID:29704188 PMID:29872134 PMID:30208878 PMID:30882951 PMID:31579991 PMID:31589614 PMID:31934135 PMID:32651481 PMID:34426522 PMID:34440436 PMID:34645491 More...
NCBI chr 7:22,800,502...22,866,336
Ensembl chr 7:22,800,485...22,866,933
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Gnptg
N-acetylglucosamine-1-phosphate transferase subunit gamma
ISO
ClinVar Annotator: match by term: MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: MUCOLIPIDOSIS III, VARIANT FORM | ClinVar Annotator: match by term: Mucolipidosis type III gamma CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:10712439 PMID:15060128 PMID:15532026 PMID:16199547 PMID:17576681 PMID:19370764 PMID:19659762 PMID:20034096 PMID:20147709 PMID:20301784 PMID:20951619 PMID:21792934 PMID:23430803 PMID:24033266 PMID:24123366 PMID:24316125 PMID:24767253 PMID:24807205 PMID:25182519 PMID:25741868 PMID:26130485 PMID:26935170 PMID:27038293 PMID:27243974 PMID:27896079 PMID:28492532 PMID:28950892 PMID:29170090 PMID:29704188 PMID:29872134 PMID:30235039 PMID:30507725 PMID:30882951 PMID:32651481 PMID:36344539 More...
NCBI chr10:14,252,186...14,257,128
Ensembl chr10:14,251,136...14,257,096
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Unkl
unk like zinc finger
ISO
ClinVar Annotator: match by term: MUCOLIPIDOSIS III, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: MUCOLIPIDOSIS III, VARIANT FORM
ClinVar
PMID:25741868
NCBI chr10:14,206,125...14,252,226
Ensembl chr10:14,206,189...14,252,225
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Abcc8
ATP binding cassette subfamily C member 8
ISO
ClinVar Annotator: match by term: Sialidase deficiency
ClinVar
PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 PMID:25741868 PMID:26431509 PMID:27538677 PMID:28492532 PMID:32027066 PMID:32792356 More...
NCBI chr 1:96,598,568...96,679,563
Ensembl chr 1:96,598,647...96,679,510
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Neu1
neuraminidase 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neuraminidase 1 deficiency | ClinVar Annotator: match by term: Sialidase deficiency | ClinVar Annotator: match by term: Sialidosis type I
OMIM CTD ClinVar
PMID:9054950 PMID:9536098 PMID:10767332 PMID:10944856 PMID:11063730 PMID:11279074 PMID:11470272 PMID:11702224 PMID:11829139 PMID:14517945 PMID:14695530 PMID:15908988 PMID:16361247 PMID:16538002 PMID:17576681 PMID:19415310 PMID:19568825 PMID:20706754 PMID:21214877 PMID:23291686 PMID:23391804 PMID:24808020 PMID:25153125 PMID:25401298 PMID:25600812 PMID:25741868 PMID:26141460 PMID:28492532 PMID:32453490 PMID:32472645 PMID:32485644 PMID:33121223 PMID:33502066 PMID:34421504 PMID:34476202 PMID:34992946 PMID:35036219 More...
NCBI chr20:3,897,480...3,901,745
Ensembl chr20:3,897,480...3,901,745
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Pigf
phosphatidylinositol glycan anchor biosynthesis, class F
ISO
ClinVar Annotator: match by term: Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome
ClinVar OMIM
PMID:33386993
NCBI chr 6:7,589,584...7,617,719
Ensembl chr 6:7,589,570...7,639,675
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Fbn1
fibrillin 1
ISO
protein:increased expression:cortical bone, trabecular bone (mouse)
RGD
PMID:11159866
RGD:7794797
NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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Mepe
matrix extracellular phosphoglycoprotein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11414762
NCBI chr14:5,420,634...5,432,186
Ensembl chr14:5,420,635...5,432,183
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Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
ISO
RGD
PMID:10700189
RGD:10047094
NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
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Ace
angiotensin I converting enzyme
IMP
associated with Hypertension
RGD
PMID:19590507
RGD:2325225
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Actg1
actin, gamma 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232 Ensembl chr 3:105,619,737...105,624,232
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Adcy5
adenylate cyclase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18029912
NCBI chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974
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Ager
advanced glycosylation end product-specific receptor
ISO IEP
mRNA:increased expression:proximal end of left femur (rat)
RGD
PMID:21542009 PMID:22036861
RGD:6767561 , RGD:7245948
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Antxr2
ANTXR cell adhesion molecule 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12973667
NCBI chr14:11,541,718...11,682,110
Ensembl chr14:11,541,772...11,682,094
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Anxa2
annexin A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658
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Ar
androgen receptor
treatment
IDA ISO
RGD
PMID:14600402 PMID:18847323
RGD:10043196 , RGD:10043198
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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Atic
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889
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Atm
ATM serine/threonine kinase
ISO
RGD
PMID:16644862
RGD:10047420
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Atp4b
ATPase H+/K+ transporting subunit beta
treatment
ISO
RGD
PMID:26869358
RGD:14696735
NCBI chr16:76,144,150...76,153,063
Ensembl chr16:76,144,150...76,153,063
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Bax
BCL2 associated X, apoptosis regulator
treatment
IEP
RGD
PMID:22648569
RGD:10054093
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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Bcl2
BCL2, apoptosis regulator
treatment
IEP
RGD
PMID:22648569
RGD:10054093
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Bglap
bone gamma-carboxyglutamate protein
susceptibility
IDA ISO
DNA:SNP, haplotype:promoter:g.-298C>T (human) associated with Diabetes Mellitus, type 2;associated with Diabetes Mellitus, type 2; protein:uncercarboxylated:serum
RGD
PMID:21550389 PMID:23137636 PMID:15108065
RGD:6483552 , RGD:10045665 , RGD:6483579
NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
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Bmp2
bone morphogenetic protein 2
ISO
RGD
PMID:17002564
RGD:1625350
NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397
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Bmp4
bone morphogenetic protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36453845
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Calca
calcitonin-related polypeptide alpha
ISO
RGD
PMID:2502220
RGD:734677
NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105
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Calcr
calcitonin receptor
susceptibility
ISO
DNA:SNP:cds:g.1340T>C (human) CTD Direct Evidence: marker/mechanism
CTD OMIM RGD
PMID:23137636
RGD:10045665
NCBI chr 4:31,661,270...31,736,392
Ensembl chr 4:31,661,273...31,736,392
G
Cap1
cyclase associated actin cytoskeleton regulatory protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 5:135,142,108...135,168,885
Ensembl chr 5:135,142,112...135,168,769
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Car2
carbonic anhydrase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 2:86,741,625...86,756,766
Ensembl chr 2:86,741,626...86,756,818
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Cct2
chaperonin containing TCP1 subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 7:52,692,725...52,705,478
Ensembl chr 7:52,692,725...52,706,944
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Ciita
class II, major histocompatibility complex, transactivator
ISS
OMIM:166710
MouseDO
NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440
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Clec11a
C-type lectin domain containing 11A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27976999
NCBI chr 1:94,800,456...94,809,002
Ensembl chr 1:94,801,496...94,804,633
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Col1a1
collagen type I alpha 1 chain
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 18 | ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL associated with Beta-Thalassemia;DNA:SNP:intron:g.2046G>T (human) DNA:SNP, haplotype:intron:g.2046G>T (human)
OMIM CTD ClinVar RGD
PMID:2037280 PMID:2542316 PMID:7695699 PMID:7942841 PMID:8218237 PMID:8408653 PMID:8456808 PMID:8613526 PMID:8669434 PMID:8808594 PMID:9016532 PMID:9067755 PMID:9295084 PMID:9443882 PMID:9536098 PMID:10739762 PMID:10931857 PMID:11113887 PMID:11317364 PMID:12362985 PMID:12590186 PMID:15024692 PMID:15024745 PMID:15241796 PMID:15741671 PMID:15864348 PMID:15931785 PMID:16199547 PMID:17078022 PMID:17211858 PMID:17309652 PMID:17392686 PMID:17576681 PMID:18272325 PMID:18412368 PMID:18553566 PMID:18704262 PMID:18996919 PMID:19344236 PMID:19358256 PMID:19491628 PMID:20981092 PMID:21249479 PMID:21567126 PMID:21594610 PMID:21667357 PMID:22206639 PMID:22589248 PMID:22753364 PMID:22855962 PMID:23265383 PMID:23587214 PMID:23692737 PMID:24390061 PMID:24767406 PMID:25086671 PMID:25597651 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26177859 PMID:26467025 PMID:26627451 PMID:27044453 PMID:27132807 PMID:27146342 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27748872 PMID:28102596 PMID:28378289 PMID:28492532 PMID:28725987 PMID:28810924 PMID:29499418 PMID:29595812 PMID:30614853 PMID:30692697 PMID:30715774 PMID:31304589 PMID:31447884 PMID:32166892 PMID:33228694 PMID:33928192 PMID:33939306 PMID:19143970 PMID:23137636 More...
RGD:11041180 , RGD:10045665
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Col1a2
collagen type I alpha 2 chain
ISO
ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1978725 PMID:2985635 PMID:7695699 PMID:7860070 PMID:8094076 PMID:8218237 PMID:9016532 PMID:9272740 PMID:9399846 PMID:9594376 PMID:9923651 PMID:15172002 PMID:16705691 PMID:16786509 PMID:17078022 PMID:18028452 PMID:19344236 PMID:21520333 PMID:22589248 PMID:25326637 PMID:25450603 PMID:25741868 PMID:25944380 PMID:26307460 PMID:26371943 PMID:26432670 PMID:26467025 PMID:26604951 PMID:27519266 PMID:28017821 PMID:28492532 PMID:28518168 PMID:29150909 PMID:30821104 PMID:32461654 PMID:32659730 More...
NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
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Ctsk
cathepsin K
ISO
RGD
PMID:10469835
RGD:734856
NCBI chr 2:183,058,586...183,069,551
Ensembl chr 2:183,058,569...183,069,550
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Cxcr4
C-X-C motif chemokine receptor 4
ISO
RGD
PMID:29882473
RGD:14700776
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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Cyp17a1
cytochrome P450, family 17, subfamily a, polypeptide 1
ISO
DNA:snps:multiple (human)
RGD
PMID:17002564
RGD:1625350
NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
G
Cyp19a1
cytochrome P450, family 19, subfamily a, polypeptide 1
ISO
DNA:snps:multiple (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20723554 PMID:17002564
RGD:1625350
NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758
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Cyp24a1
cytochrome P450, family 24, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22337913
NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383
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Daam2
dishevelled associated activator of morphogenesis 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30598549
NCBI chr 9:11,428,913...11,546,982
Ensembl chr 9:11,428,724...11,545,497
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Dbp
D-box binding PAR bZIP transcription factor
ISO
RGD
PMID:17002564
RGD:1625350
NCBI chr 1:96,175,796...96,180,745
Ensembl chr 1:96,175,440...96,180,745
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Dspp
dentin sialophosphoprotein
IEP
protein:decreased expression:incisor dental pulp (rat)
RGD
PMID:23974864
RGD:12911019
NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
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Eno1
enolase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 5:160,719,951...160,731,337
Ensembl chr 5:160,719,951...160,731,336
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Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
ISO
RGD
PMID:23281008
RGD:10045609
NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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Esr1
estrogen receptor 1
no_association treatment
ISO IEP
DNA:SNP:intron:397T>C (human) DNA:repeat:5' utr:g.-1174(TA)10-27 (human) DNA:SNP:exon:2014G>A (human) DNA:repeat:intron:IVS5+225(CA)18-25 (human) DNA:SNPs:intron: (rs2234693, rs9340799) (human) DNA:SNP, haplotype:intron:g.938C>T (human)
RGD
PMID:23137636 PMID:21421090 PMID:17953702 PMID:17953702 PMID:10773580 PMID:16955786 PMID:17896124 PMID:20116372 PMID:16530497 More...
RGD:10045665 , RGD:10045841 , RGD:10045839 , RGD:10045839 , RGD:10045834 , RGD:8694129 , RGD:10045828 , RGD:10045826 , RGD:10045825
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
G
Esr2
estrogen receptor 2
susceptibility treatment
ISO IEP
DNA:SNP, haplotypes: :-1213T>C (human) DNA:SNP, haplotype:3'utr:*39A>G (human) DNA:repeat:3' utr: g.dupCA (human)
RGD
PMID:16777502 PMID:21421090 PMID:16530497 PMID:16955786 PMID:22948905
RGD:1626507 , RGD:10045841 , RGD:10045825 , RGD:8694129 , RGD:7364765
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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Esrra
estrogen related receptor, alpha
ISO
RGD
PMID:19936213
RGD:10401868
NCBI chr 1:204,104,100...204,114,182
Ensembl chr 1:204,104,101...204,114,268
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Fga
fibrinogen alpha chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 2:168,374,120...168,381,523
Ensembl chr 2:168,374,120...168,381,528
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Fgb
fibrinogen beta chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 2:168,394,901...168,402,863
Ensembl chr 2:168,394,916...168,405,979
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Gapdh
glyceraldehyde-3-phosphate dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
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Gh1
growth hormone 1
IEP
associated with Diabetes Mellitus, Experimental
RGD
PMID:1466160
RGD:10003132
NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
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Ghr
growth hormone receptor
treatment
IEP
associated with Uremia;protein:altered expression:osteoblast, osteoclast, chondroblast associated with Cholestasis
RGD
PMID:17647196 PMID:19424739
RGD:10003128 , RGD:10003131
NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
G
Golm1
golgi membrane protein 1
treatment
ISO
protein:increased expression:serum
RGD
PMID:30396165 PMID:30396165
RGD:401827113 , RGD:401827113
NCBI chr17:4,995,925...5,044,329
Ensembl chr17:4,996,104...5,034,057
G
Gorab
golgin, RAB6-interacting
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18997784
NCBI chr13:75,745,678...75,762,307
Ensembl chr13:75,745,680...75,762,298
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Gpc6
glypican 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28869591
NCBI chr15:94,030,218...95,027,883
Ensembl chr15:94,029,884...95,024,006
G
Gpd2
glycerol-3-phosphate dehydrogenase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 3:41,800,552...41,937,729
Ensembl chr 3:41,801,930...41,936,901
G
Gpx1
glutathione peroxidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Gsn
gelsolin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402
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Gsr
glutathione-disulfide reductase
ISO
protein:decreased expression:blood
RGD
PMID:19464221
RGD:10401828
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
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Gstp1
glutathione S-transferase pi 1
ISO
associated with Cystic Fibrosis;DNA:missense mutation:cds:c.313A>G (p.I105V) (human)
RGD
PMID:24593045
RGD:10401929
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
G
Hfe
homeostatic iron regulator
ISO
associated with hemochromatosis
RGD
PMID:26829642
RGD:14746963
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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Id4
inhibitor of DNA binding 4
ISS
OMIM:166710
MouseDO
NCBI chr17:16,389,387...16,391,956
Ensembl chr17:16,389,387...16,392,470
G
Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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Ifngr1
interferon gamma receptor 1
ISS
OMIM:166710
MouseDO
NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785
G
Igf1
insulin-like growth factor 1
treatment
ISO IEP
associated with Diabetes Mellitus, Experimental associated with Cholestasis associated with Uremia;protein:altered expression:osteoblast, osteoclast, chondroblast
RGD
PMID:10499542 PMID:1466160 PMID:19424739 PMID:17647196
RGD:10003127 , RGD:10003132 , RGD:10003131 , RGD:10003128
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
G
Igf1r
insulin-like growth factor 1 receptor
ISO
RGD
PMID:18079194
RGD:10045888
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
G
Igf2
insulin-like growth factor 2
treatment
IDA
RGD
PMID:12162999
RGD:10402555
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
G
Igfbp3
insulin-like growth factor binding protein 3
ISO
protein:decreased expression:serum
RGD
PMID:9284698
RGD:10402579
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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Il1a
interleukin 1 alpha
ISO
associated with Arthritis, Rheumatoid
RGD
PMID:10555884
RGD:6907107
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
G
Il1b
interleukin 1 beta
IDA
RGD
PMID:22997530
RGD:7204491
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Il1rn
interleukin 1 receptor antagonist
treatment
ISO
human protein in a rat model
RGD
PMID:8182127
RGD:8551834
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
G
Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15995586
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Il6r
interleukin 6 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15995586
NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
G
Irak3
interleukin-1 receptor-associated kinase 3
ISS
OMIM:166710
MouseDO
NCBI chr 7:55,653,949...55,714,371
Ensembl chr 7:55,653,962...55,713,121
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Irs1
insulin receptor substrate 1
IEP
mRNA, protein:decreased expression:multiple
RGD
PMID:22820932
RGD:7207063
NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122
G
Irs2
insulin receptor substrate 2
IEP
associated with Diabetes Mellitus, Type 2; protein:decreased expression:liver,kidney, muscle:
RGD
PMID:22820932
RGD:7207063
NCBI chr16:78,488,249...78,512,482
Ensembl chr16:78,485,045...78,512,482
G
Kl
Klotho
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:9363890 PMID:9363890
RGD:10403047
NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
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Lep
leptin
treatment
ISO IDA IEP
associated with chronic obstructive pulmonary disease; protein:decreased expression:serum human protein in a rat model protein:increased expression:serum (rat)
RGD
PMID:21376149 PMID:11459801 PMID:12609558 PMID:24250662
RGD:5128771 , RGD:10053630 , RGD:10053615 , RGD:10053572
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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Lepr
leptin receptor
susceptibility
ISO
DNA:polymorphisms:cds:p.K109R,Q223R(human)
RGD
PMID:23460508
RGD:10411886
NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908
G
Lrp5
LDL receptor related protein 5
treatment
ISO IEP
ClinVar Annotator: match by term: LRP5-related primary osteoporosis | ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 1 | ClinVar Annotator: match by term: LRP5-related primary osteoporosis | ClinVar Annotator: match by term: OSTEOPOROSIS, INVOLUTIONAL | ClinVar Annotator: match by term: Osteoporosis
ClinVar CTD RGD
PMID:9536098 PMID:11719191 PMID:11793484 PMID:12579474 PMID:14727154 PMID:15024691 PMID:15077203 PMID:15141052 PMID:15201508 PMID:15619672 PMID:15767861 PMID:15777745 PMID:15824851 PMID:15824861 PMID:15850991 PMID:16234968 PMID:16252235 PMID:16679074 PMID:17052975 PMID:17137849 PMID:17202888 PMID:17223614 PMID:17306638 PMID:17307038 PMID:17395706 PMID:17505772 PMID:17576681 PMID:18058054 PMID:18349089 PMID:18588671 PMID:18602879 PMID:19324841 PMID:21528003 PMID:22456437 PMID:23441120 PMID:24423337 PMID:24706814 PMID:24715757 PMID:25711638 PMID:25741868 PMID:25920554 PMID:26348019 PMID:26467025 PMID:28192794 PMID:28378289 PMID:28420620 PMID:28492532 PMID:28494495 PMID:29055141 PMID:29168297 PMID:29181528 PMID:30283887 PMID:30452590 PMID:31039433 PMID:33118644 PMID:33939331 PMID:34639175 PMID:34860240 PMID:35106624 PMID:17002564 PMID:22704852 PMID:21977807 More...
RGD:1625350 , RGD:7240519 , RGD:12793063
NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
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Ltf
lactotransferrin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16648989 PMID:16936800
NCBI chr 8:110,999,948...111,022,795
Ensembl chr 8:110,999,948...111,022,795
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Ly6a
lymphocyte antigen 6 family member A
ISS
OMIM:166710
MouseDO
NCBI chr 7:107,177,191...107,189,436
Ensembl chr 7:107,183,469...107,189,981
G
Mapk14
mitogen activated protein kinase 14
treatment
IMP
RGD
PMID:18442314
RGD:10045965
NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589
G
Mgll
monoglyceride lipase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 4:121,192,186...121,294,187
Ensembl chr 4:121,192,195...121,294,179
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Mir152
microRNA 152
IEP
miRNA:increased expression:femur
RGD
PMID:31492082
RGD:21066345
NCBI chr10:81,832,936...81,833,020
Ensembl chr10:81,832,936...81,833,020
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Mmp9
matrix metallopeptidase 9
ISO
associated with osteoporosis; protein:increased expression:serum
RGD
PMID:19411568
RGD:5129553
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
Myc
MYC proto-oncogene, bHLH transcription factor
IDA
RGD
PMID:22704852
RGD:7240519
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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Nog
noggin
ISO
RGD
PMID:12975477
RGD:10414323
NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
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Nrip1
nuclear receptor interacting protein 1
ISO
DNA:silent mutation, haplotype:p.G75G (human)
RGD
PMID:16530497
RGD:10045825
NCBI chr11:14,895,843...14,979,490
Ensembl chr11:14,895,553...14,981,761
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Opa1
OPA1, mitochondrial dynamin like GTPase
ISO
ClinVar Annotator: match by term: Osteoporosis
ClinVar
PMID:25741868
NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
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Oxct1
3-oxoacid CoA transferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 2:53,236,370...53,384,715
Ensembl chr 2:53,236,368...53,384,714
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P4hb
prolyl 4-hydroxylase subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr10:105,836,972...105,848,583
Ensembl chr10:105,836,982...105,848,500
G
Park7
Parkinsonism associated deglycase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970
G
Pcna
proliferating cell nuclear antigen
IEP
protein:increased expression:osteoblast:
RGD
PMID:22550338
RGD:10045656
NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
G
Pdlim4
PDZ and LIM domain 4
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr10:38,198,686...38,212,935
Ensembl chr10:38,198,689...38,212,938
G
Pgls
6-phosphogluconolactonase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr16:18,300,317...18,305,803
Ensembl chr16:18,300,317...18,305,803
G
Pkm
pyruvate kinase M1/2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 8:60,057,629...60,079,600
Ensembl chr 8:60,057,402...60,079,599
G
Plek
pleckstrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr14:91,397,015...91,429,693
Ensembl chr14:91,397,019...91,454,131
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Pls3
plastin 3
ISS ISO
OMIM:166710 ClinVar Annotator: match by term: X-linked osteoporosis with fractures
MouseDO ClinVar
PMID:24088043 PMID:25741868
NCBI chr X:111,589,193...111,683,908
Ensembl chr X:111,589,254...111,683,891
G
Pnp
purine nucleoside phosphorylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr15:24,170,607...24,178,269
Ensembl chr15:24,170,602...24,203,986
G
Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3017235 PMID:4367732 PMID:6143199 PMID:6254450 PMID:19153526
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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Prdx3
peroxiredoxin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 1:260,001,642...260,014,064
Ensembl chr 1:260,001,637...260,014,111
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Psma2
proteasome 20S subunit alpha 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr17:50,554,536...50,564,923
Ensembl chr17:50,551,924...50,564,938
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Psma5
proteasome 20S subunit alpha 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 2:195,896,369...195,919,733
Ensembl chr 2:195,896,365...195,919,731
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Ptger4
prostaglandin E receptor 4
treatment
IMP
RGD
PMID:16442794
RGD:10043381
NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670
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Pth
parathyroid hormone
treatment
IDA ISO IEP
CTD Direct Evidence: therapeutic protein:decreased expression:serum (rat)
CTD RGD
PMID:15710971 PMID:17317460 PMID:17882678 PMID:19578808 PMID:21306167 PMID:30639440 PMID:23161222 PMID:22312238 More...
RGD:7242793 , RGD:7242907
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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Rab7b
Rab7b, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr13:43,121,168...43,147,581
Ensembl chr13:43,121,226...43,147,581
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Ren
renin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18847324
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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Rsu1
Ras suppressor protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr17:76,128,774...76,377,515
Ensembl chr17:76,188,812...76,377,454
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Ryr1
ryanodine receptor 1
ISO
ClinVar Annotator: match by term: Osteoporosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
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Serpinf1
serpin family F member 1
ISO
ClinVar Annotator: match by term: Osteoporosis
ClinVar
PMID:25741868 PMID:28492532 PMID:29150909 PMID:30968248
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Sirt1
sirtuin 1
treatment
IDA IMP
RGD
PMID:22555620 PMID:25377437
RGD:10047129 , RGD:10053568
NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260
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Sod2
superoxide dismutase 2
susceptibility no_association
ISO
DNA:SNPs:intron, exon:g.31A>G, g.327C>T (p.A16V) (rs5746094, rs4880) (human) CTD Direct Evidence: marker/mechanism DNA:SNPs:5' utr, exon, intron:multiple
CTD RGD
PMID:18924182 PMID:26336112 PMID:26336112
RGD:11035299 , RGD:11035299
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Terc
telomerase RNA component
ISS
OMIM:166710
MouseDO
NCBI chr 2:112,815,654...112,816,041
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Tgfb1
transforming growth factor, beta 1
treatment
IEP ISO
associated with Uremia;protein:increased expression:osteoblast, osteoclast CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12706579 PMID:17647196
RGD:10003128
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tln1
talin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 5:57,787,670...57,817,900
Ensembl chr 5:57,787,943...57,817,900
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Tnfrsf11a
TNF receptor superfamily member 11A
ISO
RGD
PMID:17002564
RGD:1625350
NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695
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Tnfrsf11b
TNF receptor superfamily member 11B
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:166710
CTD MouseDO
PMID:17667143
NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538
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Tnfrsf1b
TNF receptor superfamily member 1B
ISO
RGD
PMID:17002564
RGD:1625350
NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206
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Tnfsf11
TNF superfamily member 11
ISO ISS
OMIM:166710 CTD Direct Evidence: therapeutic
MouseDO CTD RGD
PMID:17882678 PMID:17002564
RGD:1625350
NCBI chr15:53,673,850...53,705,325
Ensembl chr15:53,673,877...53,705,445
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Tpi1
triosephosphate isomerase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541
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Tpm4
tropomyosin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr16:17,684,415...17,698,456
Ensembl chr16:17,683,195...17,705,984
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Tuba1b
tubulin, alpha 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 7:130,090,663...130,093,644
Ensembl chr 7:130,081,032...130,196,186
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Tuba1c
tubulin, alpha 1C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr 7:130,192,050...130,199,655
Ensembl chr 7:130,192,016...130,199,647 Ensembl chr X:130,192,016...130,199,647
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U2af1
U2 small nuclear RNA auxiliary factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr20:9,742,904...9,753,840
Ensembl chr20:9,742,905...9,753,832
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Vcl
vinculin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr15:3,265,776...3,355,586
Ensembl chr15:3,265,815...3,355,606
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Vdr
vitamin D receptor
no_association
ISO ISS
associated with Cystic Fibrosis OMIM:166710
MouseDO RGD
PMID:16713399
RGD:4889871
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Wdr1
WD repeat domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18924182
NCBI chr14:72,258,032...72,291,768
Ensembl chr14:72,257,956...72,291,766
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Wnt1
Wnt family member 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO
CTD ClinVar
PMID:23499309 PMID:23656646
NCBI chr 7:129,938,604...129,942,651
Ensembl chr 7:129,938,604...129,942,651
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Zdhhc13
zinc finger DHHC-type palmitoyltransferase 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20548961
NCBI chr 1:98,487,319...98,525,906
Ensembl chr 1:98,487,358...98,525,905
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Copb2
COPI coat complex subunit beta 2
ISO
ClinVar Annotator: match by term: Osteoporosis, childhood- or juvenile-onset, with developmental delay
OMIM ClinVar
PMID:25741868 PMID:34450031
NCBI chr 8:99,161,324...99,183,452
Ensembl chr 8:99,161,350...99,185,197
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Acp5
acid phosphatase 5, tartrate resistant
IEP
protein:increased expression:femur (rat)
RGD
PMID:19736603
RGD:2315910
NCBI chr 8:20,663,984...20,670,604
Ensembl chr 8:20,663,985...20,667,929
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Ar
androgen receptor
ISO
RGD
PMID:12593895
RGD:1578682
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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Bmp15
bone morphogenetic protein 15
susceptibility
ISO
DNA:SNPs, haplotype:5' utr, intron:g.-9C>G, IVS1+905A>G (human)
RGD
PMID:22335445
RGD:10045849
NCBI chr X:16,169,123...16,174,187
Ensembl chr X:16,169,123...16,174,187
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Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17227729
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Col1a1
collagen type I alpha 1 chain
ISO
ClinVar Annotator: match by term: Postmenopausal osteoporosis
ClinVar
PMID:2037280 PMID:2542316 PMID:7695699 PMID:7942841 PMID:8218237 PMID:8408653 PMID:8669434 PMID:8808594 PMID:9016532 PMID:9067755 PMID:9295084 PMID:9443882 PMID:10931857 PMID:12590186 PMID:15024692 PMID:15241796 PMID:15864348 PMID:15931785 PMID:16199547 PMID:16879195 PMID:17078022 PMID:17309652 PMID:18412368 PMID:18553566 PMID:18704262 PMID:19344236 PMID:19358256 PMID:21249479 PMID:21567126 PMID:21667357 PMID:22589248 PMID:22753364 PMID:22855962 PMID:24390061 PMID:25086671 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26177859 PMID:26467025 PMID:27509835 PMID:27510842 PMID:27519266 PMID:28378289 PMID:28492532 PMID:28810924 PMID:31447884 PMID:32166892 PMID:33228694 PMID:33928192 PMID:33939306 More...
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Col1a2
collagen type I alpha 2 chain
ISO
ClinVar Annotator: match by term: Postmenopausal osteoporosis
ClinVar
PMID:1463018 PMID:1978725 PMID:2052622 PMID:2985635 PMID:7695699 PMID:7860070 PMID:8094076 PMID:8218237 PMID:8786074 PMID:9016532 PMID:9272740 PMID:9399846 PMID:9594376 PMID:9923651 PMID:15172002 PMID:16705691 PMID:16786509 PMID:16879195 PMID:17078022 PMID:18028452 PMID:19344236 PMID:21520333 PMID:22589248 PMID:22753364 PMID:25326637 PMID:25450603 PMID:25741868 PMID:25944380 PMID:26177859 PMID:26307460 PMID:26432670 PMID:26604951 PMID:27519266 PMID:28017821 PMID:28492532 PMID:28518168 PMID:32461654 PMID:32659730 More...
NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
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Cyp19a1
cytochrome P450, family 19, subfamily a, polypeptide 1
ISO
DNA:snps:exon:multiple (human)
RGD
PMID:17118999
RGD:1600860
NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758
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Esr1
estrogen receptor 1
treatment susceptibility
ISO
DNA:SNP:intron:IVS1T>C (human) DNA:SNPs, haplotype:intron: (rs2234693, rs9340799) (human)
RGD
PMID:16604479 PMID:16972020
RGD:8158082 , RGD:10045838
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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Esr2
estrogen receptor 2
susceptibility
ISO
DNA:SNP: :-1213T>C (human) DNA:SNP, haplotype:3'utr:*39A>G (human) DNA:repeat:intron:IVS5-3919(CA)18-26 (human)
RGD
PMID:16777502 PMID:22335445 PMID:17945165
RGD:1626507 , RGD:10045849 , RGD:10045847
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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Fdps
farnesyl diphosphate synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31774873
NCBI chr 2:174,497,402...174,507,031
Ensembl chr 2:174,486,665...174,507,776
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Fgf23
fibroblast growth factor 23
ISO
protein:increased expression: :
RGD
PMID:24101107
RGD:10044241
NCBI chr 4:159,914,267...159,923,821
Ensembl chr 4:159,914,272...159,923,821
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Hif1a
hypoxia inducible factor 1 subunit alpha
treatment
IMP ISO
RGD
PMID:24023068 PMID:18067744
RGD:10402191 , RGD:10402540
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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Ifitm5
interferon induced transmembrane protein 5
ISO
ClinVar Annotator: match by term: Postmenopausal osteoporosis
ClinVar
PMID:22863190 PMID:22863195 PMID:23977282 PMID:25251575 PMID:25741868 PMID:28492532 PMID:28725987 PMID:29174564 PMID:31099171 PMID:31159867 PMID:32383316 PMID:35216266 More...
NCBI chr 1:196,045,836...196,052,554
Ensembl chr 1:196,045,666...196,047,232
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Igf1
insulin-like growth factor 1
ISO
protein:decreased expression:serum:
RGD
PMID:11063288
RGD:10045861
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Igf2
insulin-like growth factor 2
treatment
ISO
RGD
PMID:16753016
RGD:10402556
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9032749
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9032749
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Il7
interleukin 7
treatment
ISO
RGD
PMID:23662133
RGD:10402930
NCBI chr 2:94,235,219...94,280,075
Ensembl chr 2:94,234,766...94,280,075
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Lrp5
LDL receptor related protein 5
ISO
ClinVar Annotator: match by term: Postmenopausal osteoporosis
ClinVar
PMID:24715757 PMID:25741868 PMID:28492532
NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
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Nfatc1
nuclear factor of activated T-cells 1
treatment
IEP
RGD
PMID:31399090
RGD:329328926
NCBI chr18:74,046,422...74,156,041
Ensembl chr18:74,046,904...74,156,028
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Nrip1
nuclear receptor interacting protein 1
susceptibility
ISO
DNA:silent mutation:cds:p.G75G (human)
RGD
PMID:22335445
RGD:10045849
NCBI chr11:14,895,843...14,979,490
Ensembl chr11:14,895,553...14,981,761
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Pgghg
protein-glucosylgalactosylhydroxylysine glucosidase
ISO
ClinVar Annotator: match by term: Postmenopausal osteoporosis
ClinVar
PMID:22863190 PMID:22863195 PMID:23977282 PMID:25251575 PMID:25741868 PMID:28492532 PMID:28725987 PMID:29174564 PMID:31099171 PMID:31159867 PMID:32383316 PMID:35216266 More...
NCBI chr 1:196,038,276...196,044,561
Ensembl chr 1:196,039,103...196,044,372
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Pls3
plastin 3
ISO
ClinVar Annotator: match by term: Postmenopausal osteoporosis
ClinVar
PMID:25741868
NCBI chr X:111,589,193...111,683,908
Ensembl chr X:111,589,254...111,683,891
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Ptger4
prostaglandin E receptor 4
treatment
IMP
RGD
PMID:11917107
RGD:10003045
NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670
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Pth
parathyroid hormone
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20567999
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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Ptk2b
protein tyrosine kinase 2 beta
IMP
RGD
PMID:17537919
RGD:1642610
NCBI chr15:40,360,722...40,481,235
Ensembl chr15:40,360,723...40,481,282
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10750555
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9032749
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Vdr
vitamin D receptor
treatment
ISO
DNA:SNP:exon: (rs2228570) (human)
GAD RGD
PMID:15118671 PMID:16604479
RGD:1331525 , RGD:8158082
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Bglap
bone gamma-carboxyglutamate protein
ISO
protein:increased expression:dermis:
RGD
PMID:18422975
RGD:9068449
NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
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Bmp4
bone morphogenetic protein 4
ISO
protein:increased expression:dermis:
RGD
PMID:18422975
RGD:9068449
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Ctnnb1
catenin beta 1
ISO
protein:increased expression:dermis:
RGD
PMID:18422975
RGD:9068449
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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Gnas
GNAS complex locus
ISO
ClinVar Annotator: match by term: ECTOPIC OSSIFICATION, FAMILIAL | ClinVar Annotator: match by term: Progressive osseous heteroplasia CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1505964 PMID:2122458 PMID:8557265 PMID:8702665 PMID:9876352 PMID:11092390 PMID:11600516 PMID:11784876 PMID:12024004 PMID:12621129 PMID:15711092 PMID:18553568 PMID:18796523 PMID:20427508 PMID:21525160 PMID:23281139 PMID:23533243 PMID:23796510 PMID:24033266 PMID:24088041 PMID:24481334 PMID:24626099 PMID:24728327 PMID:25044890 PMID:25219572 PMID:25741868 PMID:25802881 PMID:26633545 PMID:27703483 PMID:28492532 PMID:29059381 PMID:29072892 PMID:30349702 PMID:30674755 PMID:30729047 PMID:31793173 PMID:31886927 PMID:33144682 PMID:34254228 PMID:34418133 PMID:34614324 PMID:35296306 PMID:35357904 PMID:35497370 More...
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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Sparc
secreted protein acidic and cysteine rich
ISO
protein:increased expression:dermis:
RGD
PMID:18422975
RGD:9068449
NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396
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Spp1
secreted phosphoprotein 1
ISO
protein:increased expression:dermis:
RGD
PMID:18422975
RGD:9068449
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Gnas
GNAS complex locus
ISO ISS
DNA:deletions:exon ClinVar Annotator: match by term: Pseudohypoparathyroidism CTD Direct Evidence: marker/mechanism OMIM:612462
ClinVar CTD MouseDO RGD
PMID:219790 PMID:1505964 PMID:2109828 PMID:2122458 PMID:8388883 PMID:8557265 PMID:8702665 PMID:9159128 PMID:9328353 PMID:9506752 PMID:9876352 PMID:10487696 PMID:11073544 PMID:11092390 PMID:11095461 PMID:11450852 PMID:11600516 PMID:11784876 PMID:12024004 PMID:12621129 PMID:12970262 PMID:15711092 PMID:17164301 PMID:17299070 PMID:17962410 PMID:18553568 PMID:18796523 PMID:20427508 PMID:21274345 PMID:21488135 PMID:21525160 PMID:21713996 PMID:21747923 PMID:21823526 PMID:21836370 PMID:23281139 PMID:23533243 PMID:23796510 PMID:23884777 PMID:24088041 PMID:24481334 PMID:24626099 PMID:24651309 PMID:25044890 PMID:25219572 PMID:25326637 PMID:25741868 PMID:25802881 PMID:26633545 PMID:27703483 PMID:28296742 PMID:28492532 PMID:29059381 PMID:29072892 PMID:29193623 PMID:30349702 PMID:30674755 PMID:30729047 PMID:31793173 PMID:31886927 PMID:33144682 PMID:34008892 PMID:34254228 PMID:34418133 PMID:34614324 PMID:35296306 PMID:35357904 PMID:35497370 PMID:10487696 PMID:18812479 PMID:11600516 More...
RGD:11568042 , RGD:11568048 , RGD:11568047
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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Pth1r
parathyroid hormone 1 receptor
ISO
ClinVar Annotator: match by term: Pseudohypoparathyroidism
ClinVar
PMID:25741868 PMID:35846276
NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729
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Gnas
GNAS complex locus
ISO
DNA:hypomethylation:exon, promoter ClinVar Annotator: match by term: Pseudohypoparathyroidism Type IB | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1B DNA:deletion, hypomethylation DNA:mutations:exon, intron:multiple
ClinVar OMIM RGD
PMID:1505964 PMID:8702665 PMID:9876352 PMID:11092390 PMID:11600516 PMID:11784876 PMID:12024004 PMID:12621129 PMID:12970262 PMID:15592469 PMID:15711092 PMID:16199547 PMID:18553568 PMID:18796523 PMID:20015054 PMID:20427508 PMID:21525160 PMID:23281139 PMID:23533243 PMID:23796510 PMID:23884777 PMID:24033266 PMID:24088041 PMID:24481334 PMID:24626099 PMID:24728327 PMID:24914079 PMID:25044890 PMID:25219572 PMID:25741868 PMID:25802881 PMID:26633545 PMID:27703483 PMID:28492532 PMID:29059381 PMID:29072892 PMID:29628140 PMID:30349702 PMID:30674755 PMID:30729047 PMID:31793173 PMID:31886927 PMID:33144682 PMID:34254228 PMID:34418133 PMID:34614324 PMID:35296306 PMID:35357904 PMID:35497370 PMID:15537666 PMID:22378814 PMID:18812479 PMID:12621129 More...
RGD:11568043 , RGD:11568050 , RGD:11568048 , RGD:11568044
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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Stx16
syntaxin 16
ISO
ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1B
OMIM ClinVar
PMID:14561710 PMID:15579741 PMID:15800843 PMID:25741868 PMID:28492532
NCBI chr 3:162,853,764...162,882,489
Ensembl chr 3:162,853,782...162,882,489
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Gnas
GNAS complex locus
ISO
ClinVar Annotator: match by term: PHP IC | ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1C
OMIM ClinVar
PMID:1505964 PMID:8702665 PMID:9876352 PMID:11092390 PMID:11600516 PMID:11784876 PMID:11788646 PMID:12024004 PMID:12621129 PMID:12970262 PMID:15711092 PMID:18553568 PMID:18796523 PMID:20427508 PMID:21488135 PMID:21525160 PMID:23281139 PMID:23533243 PMID:23796510 PMID:24033266 PMID:24088041 PMID:24481334 PMID:24626099 PMID:24651309 PMID:24728327 PMID:25044890 PMID:25219572 PMID:25741868 PMID:25802881 PMID:26633545 PMID:27703483 PMID:28492532 PMID:29059381 PMID:29072892 PMID:30349702 PMID:30674755 PMID:30729047 PMID:31793173 PMID:31886927 PMID:33144682 PMID:34254228 PMID:34418133 PMID:34614324 PMID:35296306 PMID:35357904 PMID:35497370 More...
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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Gnas
GNAS complex locus
ISO ISS
ClinVar Annotator: match by term: Albright hereditary osteodystrophy without multiple hormone resistance | ClinVar Annotator: match by term: Pseudopseudohypoparathyroidism OMIM:612463 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:219790 PMID:1505964 PMID:2122458 PMID:7853365 PMID:8702665 PMID:9506752 PMID:9727013 PMID:9876352 PMID:10487696 PMID:11092390 PMID:11095461 PMID:11600516 PMID:11784876 PMID:12024004 PMID:12621129 PMID:12624854 PMID:15711092 PMID:16199547 PMID:18553568 PMID:18796523 PMID:20427508 PMID:21274345 PMID:21525160 PMID:23281139 PMID:23533243 PMID:23796510 PMID:23884777 PMID:24033266 PMID:24088041 PMID:24481334 PMID:24626099 PMID:24728327 PMID:25044890 PMID:25219572 PMID:25594858 PMID:25741868 PMID:25802881 PMID:26633545 PMID:27703483 PMID:28296742 PMID:28492532 PMID:28708303 PMID:29059381 PMID:29072892 PMID:29095814 PMID:30349702 PMID:30674755 PMID:30729047 PMID:31793173 PMID:31886927 PMID:33144682 PMID:34008892 PMID:34254228 PMID:34418133 PMID:34614324 PMID:35296306 PMID:35357904 PMID:35497370 More...
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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Fam20c
FAM20C, golgi associated secretory pathway kinase
ISO
ClinVar Annotator: match by term: FAM20C-related condition | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia CTD Direct Evidence: marker/mechanism DNA:deletion, snps, missense mutations:multiple (human)
OMIM ClinVar CTD RGD
PMID:2020859 PMID:12868469 PMID:14564151 PMID:17924334 PMID:19250384 PMID:20825432 PMID:22582013 PMID:24033266 PMID:25026495 PMID:25741868 PMID:27862258 PMID:28492532 PMID:32093234 PMID:32299476 PMID:32337609 PMID:17924334 More...
RGD:11560486
NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543
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Pth
parathyroid hormone
ISO
associated with Kidney Failure, Chronic; protein:decreased expression:serum (human)
RGD
PMID:18480316
RGD:7242687
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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Stx3
syntaxin 3
ISO
ClinVar Annotator: match by term: Retinal dystrophy and microvillus inclusion disease
OMIM ClinVar
NCBI chr 1:208,617,018...208,686,240
Ensembl chr 1:208,639,115...208,685,805
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Tgm1
transglutaminase 1
ISO
ClinVar Annotator: match by term: Revesz syndrome
ClinVar
PMID:18669893 PMID:20301779 PMID:21199492 PMID:22211879 PMID:25741868 PMID:28492532 More...
NCBI chr15:29,191,039...29,206,000
Ensembl chr15:29,191,041...29,204,523
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Tinf2
TERF1 interacting nuclear factor 2
ISO
ClinVar Annotator: match by term: Revesz syndrome | ClinVar Annotator: match by term: TINF2-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:17576681 PMID:18252230 PMID:18669893 PMID:18979121 PMID:19090550 PMID:19327580 PMID:20301779 PMID:20979174 PMID:21199492 PMID:21477109 PMID:21536674 PMID:22080964 PMID:22211879 PMID:22339828 PMID:22341970 PMID:23094712 PMID:25741868 PMID:26193622 PMID:26808569 PMID:26859482 PMID:27824607 PMID:28102861 PMID:28104920 PMID:28492532 PMID:28866069 PMID:29146883 PMID:29483670 PMID:29581185 PMID:29742735 PMID:30604317 PMID:38688277 More...
NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
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Casr
calcium-sensing receptor
ISO
RGD
PMID:12671052
RGD:734698
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
ISO ISS
vitamin D-dependent rickets type I, OMIM:264700;DNA:missense mutations: :R107H, G125E, R335P, P382S CTD Direct Evidence: marker/mechanism
MouseDO CTD RGD
PMID:16494812 PMID:9486994 PMID:11416220
RGD:1600874 , RGD:734871
NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
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Fam20c
FAM20C, golgi associated secretory pathway kinase
ISS
OMIM:264700 | OMIM:277440 | OMIM:600081 | OMIM:600785
MouseDO
NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543
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Pth
parathyroid hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10375030
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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Pth1r
parathyroid hormone 1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10375030
NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729
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Vdr
vitamin D receptor
ISO ISS
VDDR II,OMIM:277440;DNA:point mutation:exon:p.G33D, p.R70G (human) CTD Direct Evidence: marker/mechanism
MouseDO CTD RGD
PMID:1338926 PMID:17451081 PMID:22466564 PMID:2849209
RGD:1624354
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Ifih1
interferon induced with helicase C domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
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Ifih1
interferon induced with helicase C domain 1
ISO
ClinVar Annotator: match by term: Singleton-Merten syndrome 1
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21070929 PMID:24686847 PMID:24995871 PMID:25620204 PMID:25741868 PMID:26284909 PMID:26833990 PMID:27477329 PMID:28319323 PMID:28475458 PMID:28492532 PMID:28605144 PMID:28606988 PMID:28716935 PMID:29018476 PMID:29270977 PMID:30219631 PMID:30564185 PMID:30707351 PMID:31069529 PMID:31178897 PMID:31898846 PMID:33440462 PMID:34185153 PMID:34539730 PMID:35754802 More...
NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
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Rig1
RNA sensor RIG-1
ISO
ClinVar Annotator: match by term: Singleton-Merten syndrome 2
OMIM ClinVar
PMID:25620203 PMID:25741868 PMID:28180316 PMID:28492532
NCBI chr 5:55,321,351...55,369,947
Ensembl chr 5:55,321,235...55,370,819
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Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
ISO
ClinVar Annotator: match by term: Vitamin D-dependent rickets
ClinVar
NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
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Vdr
vitamin D receptor
ISO
ClinVar Annotator: match by term: Vitamin D-dependent rickets
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Cyp27b1
cytochrome P450, family 27, subfamily b, polypeptide 1
treatment
ISO IMP
ClinVar Annotator: match by term: CYP27B1-related condition | ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 | ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 1A CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:9415400 PMID:9486994 PMID:9837822 PMID:10518789 PMID:10566658 PMID:11737215 PMID:12050193 PMID:17488797 PMID:18394115 PMID:20926527 PMID:21107545 PMID:21700898 PMID:22190362 PMID:22443290 PMID:22588163 PMID:23423976 PMID:23444327 PMID:23483640 PMID:24197768 PMID:25086671 PMID:25284246 PMID:25741868 PMID:27287609 PMID:27399352 PMID:28492532 PMID:30282619 PMID:30382318 PMID:31261480 PMID:32932410 PMID:35279323 PMID:35738466 PMID:36321535 PMID:36561972 PMID:32231239 More...
RGD:32716373
NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
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Cyp27b1em1Thka
cytochrome P450, family 27, subfamily b, polypeptide 1; CRISPR/Cas9 induced mutant 1, Thka
treatment
IMP
RGD
PMID:32231239
RGD:32716373
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Cyp2r1
cytochrome P450, family 2, subfamily r, polypeptide 1
ISO
ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1
ClinVar
PMID:8201479 PMID:10969262 PMID:15128933 PMID:16549493 PMID:25741868 PMID:25942481 PMID:28492532 PMID:28548312 PMID:32115644 More...
NCBI chr 1:168,749,302...168,798,079
Ensembl chr 1:168,751,038...168,797,759
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Pde3b
phosphodiesterase 3B
ISO
ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1
ClinVar
PMID:8201479 PMID:10969262 PMID:15128933 PMID:16549493 PMID:25741868 PMID:25942481 PMID:28492532 PMID:28548312 PMID:32115644 More...
NCBI chr 1:168,606,762...168,770,078
Ensembl chr 1:168,607,022...168,769,334
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Cyp2r1
cytochrome P450, family 2, subfamily r, polypeptide 1
ISO
ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1B | ClinVar Annotator: match by term: Vitamin D hydroxylation-deficient rickets, type 1B CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8201479 PMID:10969262 PMID:15128933 PMID:16549493 PMID:22855339 PMID:25741868 PMID:25942481 PMID:27716192 PMID:28492532 PMID:28548312 PMID:32115644 PMID:33715104 More...
NCBI chr 1:168,749,302...168,798,079
Ensembl chr 1:168,751,038...168,797,759
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Pde3b
phosphodiesterase 3B
ISO
ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1B | ClinVar Annotator: match by term: Vitamin D hydroxylation-deficient rickets, type 1B
ClinVar
PMID:8201479 PMID:10969262 PMID:15128933 PMID:16549493 PMID:22855339 PMID:25741868 PMID:25942481 PMID:27716192 PMID:28492532 PMID:28548312 PMID:32115644 PMID:33715104 More...
NCBI chr 1:168,606,762...168,770,078
Ensembl chr 1:168,607,022...168,769,334
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Phyh
phytanoyl-CoA 2-hydroxylase
ISO
ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL
ClinVar
PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 PMID:28492532 More...
NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409
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Prss1
serine protease 1
ISO
ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 2A
ClinVar
PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 PMID:10204851 PMID:10514442 PMID:10691414 PMID:10801865 PMID:10835640 PMID:10872414 PMID:10909845 PMID:10982753 PMID:11097832 PMID:11247900 PMID:11312265 PMID:11719509 PMID:11788572 PMID:11842279 PMID:11932257 PMID:11950817 PMID:12011155 PMID:12853682 PMID:15028953 PMID:15776435 PMID:15786540 PMID:16632094 PMID:17204147 PMID:17568390 PMID:18286680 PMID:18511571 PMID:18755888 PMID:19453252 PMID:21415673 PMID:22379635 PMID:22539344 PMID:23143602 PMID:24002981 PMID:24458023 PMID:24525505 PMID:25741868 PMID:27578509 PMID:27673710 PMID:28492532 PMID:28861620 PMID:30420730 More...
NCBI chr 4:70,364,589...70,367,792
Ensembl chr 4:70,364,586...70,367,792
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Vdr
vitamin D receptor
treatment
ISO IMP
ClinVar Annotator: match by term: GENERALIZED RESISTANCE TO 1,25-DIHYDROXYVITAMIN D | ClinVar Annotator: match by term: PDDR IIA | ClinVar Annotator: match by term: PSEUDOVITAMIN D-DEFICIENCY, TYPE IIA | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 2A, WITH OR WITHOUT ALOPECIA | ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL | ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 2A CTD Direct Evidence: marker/mechanism DNA:missense mutations:cds: DNA:missense mutation:cds:P.K45E(human) DNA:missense mutations,nonsense mutation:exon,splice junction:
OMIM ClinVar CTD RGD
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:9536098 PMID:10204116 PMID:10707958 PMID:11564167 PMID:17130574 PMID:17371163 PMID:17576681 PMID:17970811 PMID:18159135 PMID:18279374 PMID:18593774 PMID:19049339 PMID:19169476 PMID:19682379 PMID:20200114 PMID:21073129 PMID:21168462 PMID:21424181 PMID:21931507 PMID:22145479 PMID:23180655 PMID:24033266 PMID:24246681 PMID:24859502 PMID:25741868 PMID:26177022 PMID:26198224 PMID:26590811 PMID:26631034 PMID:26787776 PMID:27164139 PMID:27607899 PMID:27778467 PMID:28492532 PMID:28620554 PMID:29949513 PMID:30967742 PMID:31557081 PMID:35738466 PMID:37080976 PMID:32231239 PMID:24693968 PMID:24859502 PMID:25201466 PMID:24246681 PMID:9275211 More...
RGD:32716373 , RGD:13432060 , RGD:13210792 , RGD:13210780 , RGD:13210778 , RGD:8158074
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Vdrem1Thka
vitamin D receptor; CRISPR/Cas9 induced mutant 1, Thka
treatment
IMP
RGD
PMID:32231239
RGD:32716373
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Vdrem2Thka
vitamin D receptor; CRISPR/Cas9 induced mutant 2, Thka
treatment
IMP
compared to untreated vdr KO
RGD
PMID:32231239
RGD:32716373
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Cyp3a2
cytochrome P450, family 3, subfamily a, polypeptide 2
ISO
ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 3
OMIM ClinVar
PMID:29461981
NCBI chr12:9,207,978...9,230,064
Ensembl chr12:9,015,383...9,285,008
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Lpcat2
lysophosphatidylcholine acyltransferase 2
ISO
ClinVar Annotator: match by term: Winchester-Grossman syndrome
ClinVar
NCBI chr19:14,088,389...14,152,742
Ensembl chr19:14,089,686...14,152,829
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Mmp14
matrix metallopeptidase 14
ISO
ClinVar Annotator: match by term: Winchester syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:4238825 PMID:17480005 PMID:22922033 PMID:25741868 PMID:29741626
NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
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Mmp2
matrix metallopeptidase 2
ISO
ClinVar Annotator: match by term: Winchester-Grossman syndrome
ClinVar
PMID:9536098 PMID:11431697 PMID:16458924 PMID:17576681 PMID:19019335 PMID:20617897 PMID:20673868 PMID:21421877 PMID:23313298 PMID:23378725 PMID:25600631 PMID:25704319 PMID:25741868 PMID:27182040 PMID:28492532 More...
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Bglap
bone gamma-carboxyglutamate protein
ISO
mRNA:increased expression:long bone
RGD
PMID:22573557
RGD:7207229
NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
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Clcn5
chloride voltage-gated channel 5
ISO
ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets
ClinVar
PMID:9734595 PMID:10469281 PMID:16822791 PMID:16861240 PMID:24081861 PMID:25741868 More...
NCBI chr X:15,185,380...15,339,977
Ensembl chr X:15,185,451...15,334,264
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Fam20c
FAM20C, golgi associated secretory pathway kinase
ISO
mRNA:increased expression:long bone, osteoblast, osteocyte (mouse)
RGD
PMID:24710520
RGD:11560488
NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543
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Phex
phosphate regulating endopeptidase X-linked
ISO ISS
ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets | ClinVar Annotator: match by term: PHEX-related condition | ClinVar Annotator: match by term: Vitamin D-resistant rickets, X-linked OMIM:307800 DNA:mutation:exon:p.K496X(mouse) DNA:deletions:3'UTR,promoter,exons: DNA:mutations:cds,splice junction: DNA:deletion,mutations:exon,splice junction:
OMIM ClinVar MouseDO RGD
PMID:188828 PMID:2589938 PMID:3394683 PMID:7550339 PMID:9097956 PMID:9106524 PMID:9199930 PMID:9536098 PMID:9768646 PMID:9768674 PMID:10439971 PMID:10737991 PMID:11004247 PMID:11468271 PMID:11502821 PMID:11502829 PMID:12414858 PMID:12727977 PMID:14564066 PMID:14564077 PMID:16055933 PMID:16199547 PMID:16303832 PMID:16636593 PMID:17576681 PMID:18162710 PMID:18252791 PMID:18625346 PMID:19219621 PMID:19513579 PMID:21050253 PMID:21902834 PMID:21994957 PMID:22101457 PMID:22261628 PMID:22319799 PMID:22527485 PMID:22577109 PMID:22695891 PMID:23079138 PMID:23466123 PMID:23813354 PMID:24033266 PMID:24102521 PMID:24684036 PMID:24756041 PMID:24836714 PMID:24857004 PMID:24926462 PMID:25042154 PMID:25525159 PMID:25741868 PMID:25839938 PMID:26040324 PMID:26051471 PMID:26377240 PMID:26402641 PMID:26467025 PMID:26543054 PMID:26894575 PMID:27840894 PMID:28383812 PMID:28492532 PMID:28506344 PMID:28981921 PMID:29393334 PMID:29460029 PMID:29505567 PMID:29858904 PMID:29901142 PMID:30298485 PMID:30298486 PMID:30607568 PMID:30682568 PMID:30920082 PMID:31102713 PMID:31910300 PMID:32257293 PMID:32329911 PMID:32619592 PMID:32772199 PMID:33639975 PMID:33666701 PMID:34006472 PMID:34141703 PMID:34434907 PMID:34633109 PMID:34806794 PMID:35738466 PMID:35896147 PMID:36530187 PMID:36672821 PMID:22573557 PMID:9063736 PMID:9106524 PMID:7550339 More...
RGD:7207229 , RGD:11556248 , RGD:11556247 , RGD:11556246
NCBI chr X:37,607,553...37,856,183
Ensembl chr X:37,610,760...37,854,469
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Clcn5
chloride voltage-gated channel 5
ISO
ClinVar Annotator: match by term: Hypophosphatemic rickets, X-linked recessive
OMIM ClinVar
PMID:7915957 PMID:8559248 PMID:9187673 PMID:9734595 PMID:11136179 PMID:15086899 PMID:15719255 PMID:15895257 PMID:16822791 PMID:18038239 PMID:19076289 PMID:19546586 PMID:19546591 PMID:19657328 PMID:22083641 PMID:22876375 PMID:23566014 PMID:24081861 PMID:25741868 PMID:25907713 PMID:26822237 PMID:27117801 PMID:27889724 PMID:28492532 PMID:28580211 PMID:31672324 PMID:32683654 More...
NCBI chr X:15,185,380...15,339,977
Ensembl chr X:15,185,451...15,334,264
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
19055
Nutritional and Metabolic Diseases
8519
disease of metabolism
8519
Metabolic Bone Diseases
388
Aloi Tomasini Isaia Syndrome
0
Chitty Hall Baraitser Syndrome
0
Hypophosphatemic Bone Disease
0
Hypouricemia, Hypercalcinuria, and Decreased Bone Density
0
Kaler Garrity Stern Syndrome
0
ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME
1
Panostotic Fibrous Dysplasia
0
Pathologic Bone Demineralization +
0
Revesz syndrome
2
congenital disorder of glycosylation type IIa
2
glycoproteinosis +
11
osteoporosis +
328
progressive osseous heteroplasia
6
pseudohypoparathyroidism +
4
rickets +
30
Path 2
disease
19055
disease of anatomical entity
18391
musculoskeletal system disease
8480
connective tissue disease
5949
bone disease
4404
Metabolic Bone Diseases
388
Aloi Tomasini Isaia Syndrome
0
Chitty Hall Baraitser Syndrome
0
Hypophosphatemic Bone Disease
0
Hypouricemia, Hypercalcinuria, and Decreased Bone Density
0
Kaler Garrity Stern Syndrome
0
ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME
1
Panostotic Fibrous Dysplasia
0
Pathologic Bone Demineralization +
0
Revesz syndrome
2
congenital disorder of glycosylation type IIa
2
glycoproteinosis +
11
osteoporosis +
328
progressive osseous heteroplasia
6
pseudohypoparathyroidism +
4
rickets +
30