|
G |
CA2 |
carbonic anhydrase 2 |
susceptibility |
ISO |
DNA:splice-site mutation |
RGD |
PMID:1301935 |
RGD:1600698 |
NCBI chr 8:81,991,037...82,009,010
Ensembl chr 8:83,597,440...83,632,580
|
|
G |
CEBPA |
CCAAT enhancer binding protein alpha |
|
ISO |
|
RGD |
PMID:23580622 |
RGD:10401187 |
NCBI chr19:30,223,567...30,226,204
|
|
G |
CLCN7 |
chloride voltage-gated channel 7 |
|
ISO |
ClinVar Annotator: match by term: Albers-Schoenberg disease | ClinVar Annotator: match by term: Osteopetrosis |
ClinVar |
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:25741905 PMID:26365571 PMID:28492532 PMID:29595814 PMID:30942407 PMID:31412925 PMID:32369273 More...
|
|
NCBI chr16:64,599...95,016
Ensembl chr16:1,498,432...1,519,951
|
|
G |
CSF1 |
colony stimulating factor 1 |
|
ISO |
DNA:insertion:cds (rat) |
RGD MouseDO |
PMID:12379742 |
RGD:628338 |
NCBI chr 1:112,555,755...112,575,894
Ensembl chr 1:127,764,916...127,781,943
|
|
G |
CTSK |
cathepsin K |
|
ISO |
|
RGD |
PMID:10469835 |
RGD:734856 |
NCBI chr 1:126,146,555...126,158,662
Ensembl chr 1:129,795,966...129,808,316
|
|
G |
FERMT3 |
FERM domain containing kindlin 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18278053 |
|
NCBI chr11:59,562,861...59,581,054
Ensembl chr11:62,909,030...62,928,191
|
|
G |
FOSL1 |
FOS like 1, AP-1 transcription factor subunit |
|
ISO |
|
RGD |
PMID:10655067 |
RGD:737712 |
NCBI chr11:61,252,513...61,261,032
Ensembl chr11:64,581,841...64,589,304
|
|
G |
GHR |
growth hormone receptor |
|
ISO |
protein:decreased expression:osteoclast |
RGD |
PMID:14632687 |
RGD:2307374 |
NCBI chr 5:67,654,326...67,953,140
Ensembl chr 5:72,700,150...72,871,278
|
|
G |
JUN |
Jun proto-oncogene, AP-1 transcription factor subunit |
|
ISO |
|
RGD |
PMID:15314684 |
RGD:1549450 |
NCBI chr 1:58,042,794...58,045,536
|
|
G |
LRP5 |
LDL receptor related protein 5 |
|
ISO |
ClinVar Annotator: match by term: High bone mass |
ClinVar |
PMID:11741193 PMID:12015390 PMID:25741868 PMID:28492532 |
|
NCBI chr11:63,396,511...63,534,471
Ensembl chr11:66,735,246...66,839,817
|
|
G |
LRRK1 |
leucine rich repeat kinase 1 |
|
ISO |
|
MouseDO |
|
|
NCBI chr15:79,642,908...79,793,990
Ensembl chr15:98,931,344...99,081,168
|
|
G |
MITF |
melanocyte inducing transcription factor |
|
ISO |
|
MouseDO |
|
|
NCBI chr 3:69,674,064...69,902,078
Ensembl chr 3:71,037,665...71,265,445
|
|
G |
NDUFS8 |
NADH:ubiquinone oxidoreductase core subunit S8 |
|
ISO |
ClinVar Annotator: match by term: Osteopetrosis |
ClinVar |
|
|
NCBI chr11:63,112,536...63,118,600
Ensembl chr11:66,421,378...66,427,101
|
|
G |
OSTM1 |
osteoclastogenesis associated transmembrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Osteopetrosis |
ClinVar |
|
|
NCBI chr 6:105,842,261...105,874,429
Ensembl chr 6:109,705,519...109,738,691
|
|
G |
SNX10 |
sorting nexin 10 |
|
ISO |
ClinVar Annotator: match by term: Infantile osteopetrosis |
ClinVar |
PMID:25590979 PMID:25741868 PMID:27187610 PMID:28492532 |
|
NCBI chr 7:26,935,357...27,017,461
Ensembl chr 7:26,537,189...26,620,720
|
|
G |
TCIRG1 |
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 |
|
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...
|
|
NCBI chr11:63,120,913...63,132,831
Ensembl chr11:66,429,435...66,441,327
|
|
G |
TNFRSF11A |
TNF receptor superfamily member 11a |
|
ISO |
ClinVar Annotator: match by term: Osteopetrosis |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr18:55,695,394...55,761,307
Ensembl chr18:59,034,770...59,075,044
|
|
G |
TNFSF11 |
TNF superfamily member 11 |
|
ISO |
ClinVar Annotator: match by term: Osteopetrosis |
ClinVar |
|
|
NCBI chr13:23,750,835...23,784,740
|
|
|
G |
CLCNKB |
chloride voltage-gated channel Kb |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:15,180,858...15,194,757
Ensembl chr 1:16,174,570...16,188,166
|
|
G |
LRP5 |
LDL receptor related protein 5 |
|
ISO |
ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 1 | ClinVar Annotator: match by term: OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I |
OMIM ClinVar |
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...
|
|
NCBI chr11:63,396,511...63,534,471
Ensembl chr11:66,735,246...66,839,817
|
|
|
G |
CLCN7 |
chloride voltage-gated channel 7 |
|
ISO |
ClinVar Annotator: match by term: ALBERS-SCHONBERG DISEASE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 2 |
OMIM ClinVar |
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:25741905 PMID:25741916 PMID:26056022 PMID:26365571 PMID:28492532 PMID:29620724 PMID:30229577 PMID:30942407 PMID:31412925 PMID:32369273 PMID:32552793 PMID:32860008 More...
|
|
NCBI chr16:64,599...95,016
Ensembl chr16:1,498,432...1,519,951
|
|
|
G |
PLEKHM1 |
pleckstrin homology and RUN domain containing M1 |
|
ISO |
ClinVar Annotator: match by term: Osteopetrosis, autosomal dominant 3 |
OMIM ClinVar |
PMID:17997709 |
|
NCBI chr17:11,836,726...11,891,614
Ensembl chr17:12,011,604...12,063,912
|
|
|
G |
CCDC154 |
coiled-coil domain containing 154 |
|
ISO |
OMIM:259700 |
MouseDO |
|
|
NCBI chr16:54,158...64,522
Ensembl chr16:1,488,750...1,498,293
|
|
G |
PLEKHM1 |
pleckstrin homology and RUN domain containing M1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1 |
ClinVar |
PMID:35342016 PMID:36195244 |
|
NCBI chr17:11,836,726...11,891,614
Ensembl chr17:12,011,604...12,063,912
|
|
G |
TCIRG1 |
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 |
|
ISO |
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 ClinVar |
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 More...
|
|
NCBI chr11:63,120,913...63,132,831
Ensembl chr11:66,429,435...66,441,327
|
|
|
G |
TNFSF11 |
TNF superfamily member 11 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 2 | ClinVar Annotator: match by term: Osteopetrosis osteoclast-poor |
OMIM ClinVar |
PMID:17632511 PMID:20499338 PMID:21541994 PMID:23762088 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr13:23,750,835...23,784,740
|
|
|
G |
CA2 |
carbonic anhydrase 2 |
|
ISO |
ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis |
OMIM ClinVar |
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:25741916 PMID:28492532 More...
|
|
NCBI chr 8:81,991,037...82,009,010
Ensembl chr 8:83,597,440...83,632,580
|
|
|
G |
CLCN7 |
chloride voltage-gated channel 7 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 4 | ClinVar Annotator: match by term: Osteopetrosis infantile malignant 2 |
OMIM ClinVar |
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:25741905 PMID:25741916 PMID:26056022 PMID:26365571 PMID:28492532 PMID:29620724 PMID:30229577 PMID:30942407 PMID:31412925 PMID:32369273 PMID:32552793 PMID:32860008 PMID:199553639 More...
|
|
NCBI chr16:64,599...95,016
Ensembl chr16:1,498,432...1,519,951
|
|
|
G |
OSTM1 |
osteoclastogenesis associated transmembrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 5 | ClinVar Annotator: match by term: Osteopetrosis infantile malignant 3 |
OMIM ClinVar |
PMID:12627228 PMID:16813530 PMID:25741868 PMID:28492532 PMID:28612835 |
|
NCBI chr 6:105,842,261...105,874,429
Ensembl chr 6:109,705,519...109,738,691
|
|
|
G |
PLEKHM1 |
pleckstrin homology and RUN domain containing M1 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 6 |
OMIM ClinVar |
PMID:17404618 PMID:25741868 |
|
NCBI chr17:11,836,726...11,891,614
Ensembl chr17:12,011,604...12,063,912
|
|
|
G |
TNFRSF11A |
TNF receptor superfamily member 11a |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia | ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7 |
OMIM ClinVar |
PMID:9536098 PMID:15231021 PMID:17576681 PMID:18606301 PMID:19940926 PMID:24033266 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr18:55,695,394...55,761,307
Ensembl chr18:59,034,770...59,075,044
|
|
|
G |
SNX10 |
sorting nexin 10 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 8 |
OMIM ClinVar |
PMID:22499339 PMID:23123320 PMID:23280965 PMID:25212774 PMID:25590979 PMID:25741868 PMID:25811986 PMID:27187610 PMID:28492532 More...
|
|
NCBI chr 7:26,935,357...27,017,461
Ensembl chr 7:26,537,189...26,620,720
|
|
|
G |
SLC4A2 |
solute carrier family 4 member 2 |
|
ISO |
ClinVar Annotator: match by term: Osteopetrosis, autosomal recessive 9 |
OMIM ClinVar |
PMID:34668226 |
|
NCBI chr 7:142,646,413...142,663,376
Ensembl chr 7:154,799,256...154,815,919
|
|
|
G |
MITF |
melanocyte inducing transcription factor |
susceptibility |
ISO |
ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness |
ClinVar OMIM |
PMID:8659547 PMID:16199547 PMID:20127975 PMID:25741868 PMID:27889061 PMID:28492532 PMID:30311386 PMID:34599368 More...
|
|
NCBI chr 3:69,674,064...69,902,078
Ensembl chr 3:71,037,665...71,265,445
|
|
|
G |
G6PD |
glucose-6-phosphate dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia |
ClinVar |
PMID:25741868 |
|
NCBI chr X:143,972,798...143,988,960
Ensembl chr X:153,843,092...153,860,674
|
|
G |
IKBKG |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
|
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 |
OMIM ClinVar |
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 More...
|
|
NCBI chr X:143,988,720...144,010,078
Ensembl chr X:153,854,493...153,876,092
|
|
|
G |
PLA2G6 |
phospholipase A2 group VI |
|
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...
|
|
NCBI chr22:18,998,060...19,094,507
Ensembl chr22:36,849,794...36,919,509 Ensembl chr22:36,849,794...36,919,509
|
|
|
G |
LRP5 |
LDL receptor related protein 5 |
|
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 |
OMIM ClinVar |
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...
|
|
NCBI chr11:63,396,511...63,534,471
Ensembl chr11:66,735,246...66,839,817
|
|