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G |
Car2 |
carbonic anhydrase 2 |
susceptibility |
ISO |
DNA:splice-site mutation |
RGD |
PMID:1301935 |
RGD:1600698 |
NCBI chr 2:86,741,625...86,756,766
Ensembl chr 2:86,741,626...86,756,818
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G |
Cebpa |
CCAAT/enhancer binding protein alpha |
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ISO |
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RGD |
PMID:23580622 |
RGD:10401187 |
NCBI chr 1:87,759,631...87,762,303
Ensembl chr 1:87,759,433...87,762,412
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G |
Clcn7 |
chloride voltage-gated channel 7 |
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ISO |
ClinVar Annotator: match by term: Albers-Schoenberg disease | ClinVar Annotator: match by term: Osteopetrosis CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:11741829 PMID:14584882 PMID:15111300 PMID:16234969 PMID:17164308 PMID:19543743 PMID:20301306 PMID:21527911 PMID:21962762 PMID:23983121 PMID:25410126 PMID:25741868 PMID:26365571 PMID:28492532 PMID:29595814 PMID:30942407 PMID:31412925 PMID:32369273 PMID:11207362 More...
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RGD:737783 |
NCBI chr10:14,151,758...14,177,130
Ensembl chr10:14,151,758...14,177,130
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Csf1 |
colony stimulating factor 1 |
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IAGP ISS |
DNA:insertion:cds (rat) |
MouseDO RGD |
PMID:12379742 |
RGD:628338 |
NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
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Csf1tl |
colony stimulating factor 1; tooth less mutant |
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IAGP |
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RGD |
PMID:12379742 |
RGD:628338 |
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G |
Ctsk |
cathepsin K |
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ISO |
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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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G |
Fermt3 |
FERM domain containing kindlin 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18278053 |
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NCBI chr 1:204,189,483...204,207,683
Ensembl chr 1:204,189,484...204,207,587
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G |
Fosl1 |
FOS like 1, AP-1 transcription factor subunit |
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ISO |
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RGD |
PMID:10655067 |
RGD:737712 |
NCBI chr 1:202,754,549...202,763,057
Ensembl chr 1:202,754,529...202,764,930
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G |
Ghr |
growth hormone receptor |
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IEP |
protein:decreased expression:osteoclast |
RGD |
PMID:14632687 |
RGD:2307374 |
NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735
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Jun |
Jun proto-oncogene, AP-1 transcription factor subunit |
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ISO |
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RGD |
PMID:15314684 |
RGD:1549450 |
NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656
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G |
Lrp5 |
LDL receptor related protein 5 |
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ISO |
ClinVar Annotator: match by term: High bone mass |
ClinVar |
PMID:11741193 PMID:12015390 PMID:25741868 PMID:28492532 |
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NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
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G |
Lrrk1 |
leucine-rich repeat kinase 1 |
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ISS |
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MouseDO |
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NCBI chr 1:119,844,360...119,972,885
Ensembl chr 1:119,845,146...119,979,734
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G |
Mitf |
melanocyte inducing transcription factor |
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ISS |
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MouseDO |
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NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
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G |
Ndufs8 |
NADH:ubiquinone oxidoreductase core subunit S8 |
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ISO |
ClinVar Annotator: match by term: Osteopetrosis |
ClinVar |
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NCBI chr 1:201,140,585...201,144,573
Ensembl chr 1:201,140,585...201,144,511
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G |
Ostm1 |
osteoclastogenesis associated transmembrane protein 1 |
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ISO |
ClinVar Annotator: match by term: Osteopetrosis |
ClinVar |
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NCBI chr20:46,071,657...46,187,049
Ensembl chr20:46,153,075...46,187,023
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G |
Snx10 |
sorting nexin 10 |
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ISO |
ClinVar Annotator: match by term: Infantile osteopetrosis |
ClinVar |
PMID:25590979 PMID:25741868 PMID:27187610 PMID:28492532 |
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NCBI chr 4:80,612,648...80,677,005
Ensembl chr 4:80,612,669...80,676,996
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G |
Tcirg1 |
T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 |
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ISO |
ClinVar Annotator: match by term: Osteopetrosis |
ClinVar |
PMID:10888887 PMID:10942435 PMID:11532986 PMID:12552563 PMID:15300850 PMID:16199547 PMID:16840787 PMID:19448635 PMID:19507210 PMID:20424301 PMID:21042819 PMID:23721911 PMID:24033266 PMID:24535484 PMID:24753205 PMID:25326635 PMID:25525159 PMID:25741868 PMID:28492532 PMID:29363653 PMID:29431110 PMID:30084437 PMID:30431110 PMID:30539151 PMID:30898715 PMID:31501239 PMID:31567691 PMID:31589614 PMID:31949009 PMID:31949762 PMID:32411386 PMID:34753502 More...
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NCBI chr 1:201,127,034...201,138,787
Ensembl chr 1:201,127,034...201,138,742
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Tnfrsf11a |
TNF receptor superfamily member 11A |
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ISO |
ClinVar Annotator: match by term: Osteopetrosis |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695
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G |
Tnfsf11 |
TNF superfamily member 11 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Osteopetrosis |
CTD ClinVar |
PMID:17632511 |
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NCBI chr15:53,673,850...53,705,325
Ensembl chr15:53,673,877...53,705,445
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Clcnkb |
chloride voltage-gated channel Kb |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153
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Lrp5 |
LDL receptor related protein 5 |
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ISO |
ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 1 | ClinVar Annotator: match by term: OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1002767 PMID:9536098 PMID:10434540 PMID:11701785 PMID:11719191 PMID:11741193 PMID:12015390 PMID:12054167 PMID:12579474 PMID:15024691 PMID:15077203 PMID:15201508 PMID:15619672 PMID:15767861 PMID:15777745 PMID:15824851 PMID:15824861 PMID:15850991 PMID:16234968 PMID:16252235 PMID:16679074 PMID:17137849 PMID:17202888 PMID:17223614 PMID:17306638 PMID:17307038 PMID:17576681 PMID:18058054 PMID:18349089 PMID:18521528 PMID:18588671 PMID:18602879 PMID:19324841 PMID:21528003 PMID:22456437 PMID:23318847 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:29168297 PMID:29181528 PMID:30283887 PMID:30452590 PMID:31039433 PMID:33118644 PMID:33939331 PMID:34639175 PMID:34860240 PMID:35106624 More...
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NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
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G |
Clcn7 |
chloride voltage-gated channel 7 |
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ISO ISS |
ClinVar Annotator: match by term: ALBERS-SCHONBERG DISEASE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 2 OMIM:166600 |
OMIM ClinVar MouseDO |
PMID:1516225 PMID:9536098 PMID:11468688 PMID:11741829 PMID:14584882 PMID:15111300 PMID:16118345 PMID:17164308 PMID:17576681 PMID:19238435 PMID:19543743 PMID:19953639 PMID:20301306 PMID:21527911 PMID:21947783 PMID:21962762 PMID:23296056 PMID:23983121 PMID:25741868 PMID:26056022 PMID:26365571 PMID:28492532 PMID:29620724 PMID:30229577 PMID:30942407 PMID:31412925 PMID:32369273 PMID:32552793 PMID:32860008 More...
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NCBI chr10:14,151,758...14,177,130
Ensembl chr10:14,151,758...14,177,130
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G |
Plekhm1 |
pleckstrin homology and RUN domain containing M1 |
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ISO |
ClinVar Annotator: match by term: Osteopetrosis, autosomal dominant 3 |
OMIM ClinVar |
PMID:17997709 PMID:25741868 |
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NCBI chr10:88,313,837...88,366,182
Ensembl chr10:88,314,651...88,362,412
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Ccdc154 |
coiled-coil domain containing 154 |
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ISS |
OMIM:259700 |
MouseDO |
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NCBI chr10:14,177,271...14,187,378
Ensembl chr10:14,177,278...14,187,253
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G |
Plekhm1 |
pleckstrin homology and RUN domain containing M1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1 |
ClinVar |
PMID:35342016 PMID:36195244 |
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NCBI chr10:88,313,837...88,366,182
Ensembl chr10:88,314,651...88,362,412
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G |
Tcirg1 |
T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 |
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ISO ISS |
DNA:deletions, snps:exons:multiple (human) ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1 | ClinVar Annotator: match by term: Marble bones autosomal recessive | ClinVar Annotator: match by term: TCIRG1-related condition OMIM:259700 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:9506970 PMID:9536098 PMID:10888887 PMID:10942435 PMID:11532986 PMID:12507890 PMID:12552563 PMID:12566520 PMID:14675409 PMID:15300850 PMID:16199547 PMID:16840787 PMID:17576681 PMID:18715141 PMID:19448635 PMID:19507210 PMID:20424301 PMID:21042819 PMID:22231430 PMID:22685294 PMID:23412864 PMID:23721911 PMID:24033266 PMID:24101165 PMID:24108692 PMID:24535484 PMID:24753205 PMID:24989235 PMID:25018813 PMID:25326635 PMID:25525159 PMID:25741868 PMID:25829125 PMID:26264438 PMID:26777052 PMID:27229898 PMID:28492532 PMID:28604959 PMID:28816234 PMID:29363653 PMID:29431110 PMID:29723947 PMID:30084437 PMID:30431110 PMID:30537558 PMID:30539151 PMID:30898715 PMID:31111556 PMID:31319225 PMID:31501239 PMID:31567691 PMID:31589614 PMID:31949009 PMID:31949762 PMID:32411386 PMID:34753502 PMID:35915932 PMID:10888887 More...
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RGD:1599350 |
NCBI chr 1:201,127,034...201,138,787
Ensembl chr 1:201,127,034...201,138,742
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Tnfsf11 |
TNF superfamily member 11 |
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ISO ISS |
OMIM:259710 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 2 | ClinVar Annotator: match by term: Osteopetrosis osteoclast-poor |
OMIM MouseDO CTD ClinVar |
PMID:17632511 PMID:20499338 PMID:21541994 PMID:23762088 PMID:25741868 PMID:28492532 More...
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NCBI chr15:53,673,850...53,705,325
Ensembl chr15:53,673,877...53,705,445
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G |
Car2 |
carbonic anhydrase 2 |
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ISO ISS |
ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis OMIM:259730 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:1301935 PMID:1542674 PMID:1928091 PMID:4624444 PMID:5041390 PMID:7627193 PMID:8127074 PMID:8128957 PMID:8834238 PMID:12566520 PMID:15300855 PMID:18060825 PMID:25741868 PMID:28492532 More...
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NCBI chr 2:86,741,625...86,756,766
Ensembl chr 2:86,741,626...86,756,818
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G |
Clcn7 |
chloride voltage-gated channel 7 |
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ISO ISS |
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 4 | ClinVar Annotator: match by term: Osteopetrosis infantile malignant 2 OMIM:611490 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:1516225 PMID:11207362 PMID:11468688 PMID:11741829 PMID:14584882 PMID:16118345 PMID:16234969 PMID:17033731 PMID:17164308 PMID:19543743 PMID:19953639 PMID:20301306 PMID:21527911 PMID:21947783 PMID:21962762 PMID:23296056 PMID:23983121 PMID:25741868 PMID:26056022 PMID:26365571 PMID:28492532 PMID:29620724 PMID:30229577 PMID:30942407 PMID:31412925 PMID:32369273 PMID:32552793 PMID:32860008 PMID:199553639 More...
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NCBI chr10:14,151,758...14,177,130
Ensembl chr10:14,151,758...14,177,130
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G |
Ostm1 |
osteoclastogenesis associated transmembrane protein 1 |
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ISO ISS |
OMIM:259720 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 5 | ClinVar Annotator: match by term: Osteopetrosis infantile malignant 3 |
OMIM MouseDO CTD ClinVar |
PMID:12627228 PMID:16813530 PMID:25741868 PMID:28492532 PMID:28612835 |
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NCBI chr20:46,071,657...46,187,049
Ensembl chr20:46,153,075...46,187,023
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G |
Plekhm1 |
pleckstrin homology and RUN domain containing M1 |
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ISO ISS |
OMIM:611497 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 6 |
OMIM MouseDO CTD ClinVar |
PMID:17404618 PMID:25741868 |
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NCBI chr10:88,313,837...88,366,182
Ensembl chr10:88,314,651...88,362,412
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G |
Tnfrsf11a |
TNF receptor superfamily member 11A |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia | ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7 |
OMIM CTD ClinVar |
PMID:9536098 PMID:15231021 PMID:17576681 PMID:18606301 PMID:19940926 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695
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G |
Snx10 |
sorting nexin 10 |
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ISO ISS |
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 8 OMIM:615085 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:22499339 PMID:23123320 PMID:23280965 PMID:25212774 PMID:25590979 PMID:25741868 PMID:25811986 PMID:27187610 PMID:28492532 More...
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NCBI chr 4:80,612,648...80,677,005
Ensembl chr 4:80,612,669...80,676,996
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G |
Slc4a2 |
solute carrier family 4 member 2 |
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ISO |
ClinVar Annotator: match by term: Osteopetrosis, autosomal recessive 9 |
OMIM ClinVar |
PMID:25741868 PMID:34668226 |
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NCBI chr 4:10,736,419...10,754,407
Ensembl chr 4:10,736,425...10,752,965
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G |
Mitf |
melanocyte inducing transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness |
CTD ClinVar OMIM |
PMID:8659547 PMID:16199547 PMID:20127975 PMID:25741868 PMID:27889061 PMID:28492532 PMID:30311386 PMID:34599368 More...
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NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
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G6pd |
glucose-6-phosphate dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia |
ClinVar |
PMID:25741868 |
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NCBI chr X:152,201,081...152,220,863
Ensembl chr X:152,201,098...152,220,801
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G |
Ikbkg |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
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ISO |
ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 | ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia CTD Direct Evidence: marker/mechanism DNA:mutation:splicing site: |
OMIM ClinVar CTD RGD |
PMID:11242109 PMID:11590134 PMID:15229184 PMID:15833888 PMID:16532398 PMID:16818673 PMID:16950813 PMID:17072331 PMID:17910706 PMID:18222329 PMID:18851874 PMID:19903677 PMID:21622647 PMID:24682681 PMID:25741868 PMID:26117626 PMID:28993958 PMID:29077208 PMID:30422821 PMID:31965418 PMID:33224153 PMID:16333836 More...
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RGD:12791265 |
NCBI chr X:152,216,485...152,241,476
Ensembl chr X:152,216,596...152,239,499
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Pla2g6 |
phospholipase A2 group VI |
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ISO |
ClinVar Annotator: match by term: Osteopetrosis and infantile neuroaxonal dystrophy |
ClinVar |
PMID:2668131 PMID:18414213 PMID:18443314 PMID:20301718 PMID:20619503 PMID:24745848 PMID:25741868 PMID:26668131 PMID:28492532 PMID:29472584 PMID:30619057 PMID:33619735 PMID:34168672 PMID:34272103 More...
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NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114
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G |
Lrp5 |
LDL receptor related protein 5 |
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ISO |
ClinVar Annotator: match by term: Endosteal hyperostosis, autosomal dominant | ClinVar Annotator: match by term: Osteosclerosis autosomal dominant Worth type | ClinVar Annotator: match by term: Osteosclerosis of the skull and enlarged mandible | ClinVar Annotator: match by term: Worth disease CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1002767 PMID:9536098 PMID:10434540 PMID:11701785 PMID:11719191 PMID:11883972 PMID:12015390 PMID:12579474 PMID:15024691 PMID:15077203 PMID:15201508 PMID:15619672 PMID:15767861 PMID:15777745 PMID:15824851 PMID:15824861 PMID:15850991 PMID:16234968 PMID:16252235 PMID:16679074 PMID:17137849 PMID:17202888 PMID:17223614 PMID:17306638 PMID:17307038 PMID:17576681 PMID:18058054 PMID:18349089 PMID:18521528 PMID:18588671 PMID:18602879 PMID:19324841 PMID:21528003 PMID:22456437 PMID:23318847 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:29168297 PMID:29181528 PMID:30283887 PMID:30452590 PMID:31039433 PMID:33118644 PMID:33939331 PMID:34639175 PMID:34860240 PMID:35106624 More...
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NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
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