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G |
BMP4 |
bone morphogenetic protein 4 |
treatment |
ISO |
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RGD |
PMID:16447218 |
RGD:8699518 |
NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752
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G |
COL11A2 |
collagen type XI alpha 2 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11668593 |
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NCBI chr 6:32,734,950...32,765,837
Ensembl chr 6:33,849,885...33,879,635
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G |
COL2A1 |
collagen type II alpha 1 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27028940 |
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NCBI chr12:40,726,137...40,757,690
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G |
EDN1 |
endothelin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20707411 |
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NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545
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G |
FGF14 |
fibroblast growth factor 14 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11241832 |
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NCBI chr13:82,869,491...83,563,099
Ensembl chr13:102,016,568...102,696,330
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G |
GATA2 |
GATA binding protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20707411 |
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NCBI chr 3:125,526,537...125,535,649
Ensembl chr 3:132,890,508...132,899,035
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G |
LOC100986475 |
metallothionein-2 |
|
ISO |
Auricular Chondritis; mRNA:increased expression:ear (mouse) |
RGD |
PMID:17606507 |
RGD:6483833 |
NCBI chr16:36,894,853...36,895,826
Ensembl chr16:56,007,922...56,028,093
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G |
MMP3 |
matrix metallopeptidase 3 |
|
ISO |
mRNA:increased expression:articular cartilage |
RGD |
PMID:20153826 |
RGD:2325860 |
NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354
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G |
NPPC |
natriuretic peptide C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17676597 |
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NCBI chr2B:119,148,774...119,153,381
Ensembl chr2B:237,936,939...237,941,244
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G |
LMBR1 |
limb development membrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Acheiropodia |
OMIM ClinVar |
PMID:11090342 PMID:33863876 |
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NCBI chr 7:148,301,263...148,512,407
Ensembl chr 7:159,999,389...160,152,858
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G |
SLC26A2 |
solute carrier family 26 member 2 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis |
ClinVar |
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NCBI chr 5:145,385,433...145,412,180
Ensembl chr 5:151,391,842...151,412,676
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G |
TRIP11 |
thyroid hormone receptor interactor 11 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis |
ClinVar |
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NCBI chr14:72,601,649...72,675,784
Ensembl chr14:91,945,392...92,019,231
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G |
ASB2 |
ankyrin repeat and SOCS box containing 2 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chr14:74,566,607...74,608,905
Ensembl chr14:93,900,914...93,930,527
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G |
ATXN3 |
ataxin 3 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chr14:72,693,446...72,741,772
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G |
BTBD7 |
BTB domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chr14:73,870,163...73,965,819
Ensembl chr14:93,211,207...93,264,835
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G |
CALM1 |
calmodulin 1 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chr14:71,015,099...71,026,322
Ensembl chr19:52,121,687...52,131,135
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G |
CATSPERB |
cation channel sperm associated auxiliary subunit beta |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chr14:72,203,805...72,357,311
Ensembl chr14:91,550,690...91,699,419
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G |
CCDC88C |
coiled-coil domain containing 88C |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chr14:71,897,602...72,044,242
Ensembl chr14:91,244,434...91,393,715
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G |
CHGA |
chromogranin A |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chr14:73,555,834...73,568,547
Ensembl chr14:92,895,450...92,908,159
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G |
CPSF2 |
cleavage and polyadenylation specific factor 2 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chr14:72,757,419...72,801,149
Ensembl chr14:92,099,301...92,140,470
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G |
DDX24 |
DEAD-box helicase 24 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chr14:74,683,068...74,713,394
Ensembl chr14:94,016,438...94,046,635
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G |
DGLUCY |
D-glutamate cyclase |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chr14:71,678,891...71,851,806
Ensembl chr14:91,089,132...91,199,043
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G |
FAM181A |
family with sequence similarity 181 member A |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chr14:74,549,016...74,562,068
Ensembl chr14:93,891,392...93,895,892
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G |
FBLN5 |
fibulin 5 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chr14:72,504,240...72,583,160
Ensembl chr14:91,848,430...91,927,304
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G |
GOLGA5 |
golgin A5 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chr14:73,430,700...73,475,979
Ensembl chr14:92,770,342...92,815,444
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G |
GON7 |
GON7 subunit of KEOPS complex |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chr14:73,835,545...73,839,756
Ensembl chr14:93,171,999...93,176,201
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G |
GPR68 |
G protein-coupled receptor 68 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chr14:71,859,025...71,891,126
Ensembl chr14:91,207,679...91,208,806
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G |
IFI27 |
interferon alpha inducible protein 27 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chr14:74,742,775...74,748,820
Ensembl chr14:94,046,694...94,082,022
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G |
IFI27L1 |
interferon alpha inducible protein 27 like 1 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chr14:74,713,459...74,734,835
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G |
IFI27L2 |
interferon alpha inducible protein 27 like 2 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chr14:74,759,874...74,761,850
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G |
ITPK1 |
inositol-tetrakisphosphate 1-kinase |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chr14:73,573,020...73,750,109
Ensembl chr14:92,909,785...93,087,773
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G |
KCNK13 |
potassium two pore domain channel subfamily K member 13 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chr14:70,678,256...70,803,575
Ensembl chr14:90,032,219...90,154,687
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G |
LGMN |
legumain |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chr14:73,337,607...73,383,462
Ensembl chr14:92,677,608...92,723,051
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G |
LOC100984553 |
cytochrome c oxidase subunit 8C, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chr14:73,979,629...73,984,116
Ensembl chr14:93,316,013...93,317,217
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G |
LYSET |
lysosomal enzyme trafficking factor |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chr14:73,817,605...73,819,747
Ensembl chr14:93,154,232...93,156,065
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G |
MOAP1 |
modulator of apoptosis 1 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chr14:73,814,859...73,817,607
Ensembl chr14:93,152,551...93,153,606
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G |
NDUFB1 |
NADH:ubiquinone oxidoreductase subunit B1 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chr14:72,751,276...72,757,264
Ensembl chr14:92,093,381...92,099,244
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G |
NRDE2 |
NRDE-2, necessary for RNA interference, domain containing |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr14:70,895,376...70,949,969
Ensembl chr14:90,247,035...90,300,705
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G |
OTUB2 |
OTU deubiquitinase, ubiquitin aldehyde binding 2 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chr14:74,658,535...74,681,084
Ensembl chr14:93,991,913...94,015,157
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G |
PPP4R3A |
protein phosphatase 4 regulatory subunit 3A |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr14:72,083,948...72,137,158
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G |
PPP4R4 |
protein phosphatase 4 regulatory subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr14:74,806,877...74,912,209
Ensembl chr14:94,139,654...94,244,712
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G |
PRIMA1 |
proline rich membrane anchor 1 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr14:74,351,140...74,422,033
Ensembl chr14:93,685,784...93,756,139
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G |
PSMC1 |
proteasome 26S subunit, ATPase 1 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chr14:70,873,846...70,889,988
Ensembl chr14:90,225,405...90,241,641
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G |
RIN3 |
Ras and Rab interactor 3 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chr14:73,148,000...73,322,798
Ensembl chr14:92,488,770...92,662,415
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G |
RPS6KA5 |
ribosomal protein S6 kinase A5 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr14:71,489,654...71,679,250
Ensembl chr14:90,840,655...91,028,780
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G |
SERPINA1 |
serpin family A member 1 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr14:75,001,714...75,014,214
Ensembl chr14:94,334,258...94,345,419
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G |
SERPINA10 |
serpin family A member 10 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr14:74,914,680...74,927,325
Ensembl chr14:94,248,362...94,257,835
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G |
SERPINA6 |
serpin family A member 6 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr14:74,936,724...74,955,799
Ensembl chr14:94,269,299...94,288,391
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G |
SLC24A4 |
solute carrier family 24 member 4 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr14:72,956,230...73,128,851
Ensembl chr14:92,299,507...92,468,939
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G |
TC2N |
tandem C2 domains, nuclear |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
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NCBI chr14:72,404,915...72,471,347
Ensembl chr14:91,750,265...91,815,703
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G |
TDP1 |
tyrosyl-DNA phosphodiesterase 1 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr14:70,574,066...70,662,562
Ensembl chr14:89,926,462...90,014,802
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G |
TRIP11 |
thyroid hormone receptor interactor 11 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis Houston-Harris type | ClinVar Annotator: match by term: Achondrogenesis type 1A | ClinVar Annotator: match by term: Achondrogenesis, type IA |
OMIM ClinVar |
PMID:200899 PMID:2008997 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20089971 PMID:20307669 PMID:22406018 PMID:23956106 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28600779 PMID:29620724 PMID:29872333 PMID:30609409 PMID:30728324 PMID:31903676 PMID:33578785 PMID:34057271 More...
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NCBI chr14:72,601,649...72,675,784
Ensembl chr14:91,945,392...92,019,231
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G |
TTC7B |
tetratricopeptide repeat domain 7B |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr14:71,158,480...71,433,819
Ensembl chr14:90,509,829...90,759,714
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G |
UBR7 |
ubiquitin protein ligase E3 component n-recognin 7 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr14:73,839,702...73,861,830
Ensembl chr14:93,176,149...93,198,150
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G |
UNC79 |
unc-79 homolog, NALCN channel complex subunit |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis, type IA |
ClinVar |
PMID:28492532 |
|
NCBI chr14:73,965,908...74,340,573
Ensembl chr14:93,399,547...93,674,248
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G |
SLC26A2 |
solute carrier family 26 member 2 |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis Fraccaro type | ClinVar Annotator: match by term: Achondrogenesis, type IB |
OMIM ClinVar |
PMID:4644462 PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 PMID:8702127 PMID:8723100 PMID:8931695 PMID:9342225 PMID:9536098 PMID:10465113 PMID:10482955 PMID:11241838 PMID:11303514 PMID:11448940 PMID:11558903 PMID:11565064 PMID:11727031 PMID:12525546 PMID:12966518 PMID:15294877 PMID:15316973 PMID:15720248 PMID:16642506 PMID:17393463 PMID:17576681 PMID:18708426 PMID:18925670 PMID:19344236 PMID:19763152 PMID:20219950 PMID:20301483 PMID:20301493 PMID:20301524 PMID:20307669 PMID:20525296 PMID:20592910 PMID:20981092 PMID:21077202 PMID:21077204 PMID:21155763 PMID:21228398 PMID:21922596 PMID:22052783 PMID:22406018 PMID:23369989 PMID:23840040 PMID:24033266 PMID:24598000 PMID:25741868 PMID:26077908 PMID:27065010 PMID:28492532 PMID:29024831 PMID:30423444 PMID:30462520 PMID:31880411 PMID:32295296 PMID:32619261 PMID:33728303 PMID:34064542 PMID:34094714 PMID:34557487 PMID:34627339 PMID:34958143 More...
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NCBI chr 5:145,385,433...145,412,180
Ensembl chr 5:151,391,842...151,412,676
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G |
COL2A1 |
collagen type II alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Achondrogenesis type II | ClinVar Annotator: match by term: Chondrogenesis imperfecta |
OMIM ClinVar |
PMID:7695699 PMID:7752132 PMID:7757081 PMID:7829510 PMID:7977371 PMID:8024616 PMID:8218237 PMID:8244341 PMID:8325895 PMID:8702139 PMID:8893763 PMID:9016532 PMID:9101290 PMID:9536098 PMID:10612821 PMID:10797431 PMID:10982970 PMID:11007540 PMID:12429249 PMID:12544472 PMID:12939326 PMID:15054848 PMID:15895462 PMID:16199547 PMID:16752401 PMID:16755660 PMID:17078022 PMID:17347327 PMID:17576681 PMID:17726487 PMID:17994563 PMID:18272325 PMID:18276201 PMID:18553548 PMID:19344236 PMID:19764028 PMID:20179744 PMID:20301479 PMID:20513134 PMID:21472893 PMID:21924244 PMID:22496037 PMID:22522174 PMID:23592912 PMID:24736929 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25735649 PMID:25741868 PMID:25741869 PMID:26037341 PMID:26377240 PMID:26443184 PMID:26467025 PMID:26626311 PMID:26747767 PMID:27234559 PMID:27390512 PMID:28492532 PMID:28559085 PMID:28738883 PMID:29453956 PMID:29620724 PMID:30138938 PMID:30181686 PMID:30792901 PMID:31755234 PMID:32071555 PMID:32756486 PMID:33249554 PMID:34394176 PMID:34529350 PMID:34573377 More...
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NCBI chr12:40,726,137...40,757,690
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G |
ACAN |
aggrecan |
|
ISO |
OMIM:100800 |
MouseDO |
|
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NCBI chr15:67,492,494...67,563,265
Ensembl chr15:86,733,853...86,771,420
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G |
FBN1 |
fibrillin 1 |
|
ISO |
ClinVar Annotator: match by term: Achondroplasia |
ClinVar |
PMID:16571647 PMID:16905551 PMID:17701892 PMID:19349279 PMID:25741868 PMID:28492532 PMID:28855619 More...
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NCBI chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111
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G |
FGFR3 |
fibroblast growth factor receptor 3 |
severity |
ISO |
ClinVar Annotator: match by term: Achondroplasia | ClinVar Annotator: match by term: Skeleton skin brain syndrome DNA:mutation:cds:p.K650M(human) |
OMIM ClinVar RGD |
PMID:1908846 PMID:4697848 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7758520 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589686 PMID:8589699 PMID:8599370 PMID:8640234 PMID:8673103 PMID:8723101 PMID:8723106 PMID:8841188 PMID:8845844 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9438390 PMID:9450868 PMID:9452043 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9672519 PMID:9677066 PMID:9790257 PMID:9842995 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10215410 PMID:10360392 PMID:10360393 PMID:10361991 PMID:10377013 PMID:10395236 PMID:10425034 PMID:10471491 PMID:10587515 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10777366 PMID:10861678 PMID:10893668 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11754059 PMID:11879084 PMID:12009017 PMID:12707965 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15915095 PMID:16766665 PMID:16841094 PMID:16912704 PMID:17256796 PMID:17384684 PMID:17509076 PMID:17526800 PMID:17552943 PMID:17875876 PMID:17895900 PMID:18076102 PMID:18198189 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19381019 PMID:19749790 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20420824 PMID:20453470 PMID:20624921 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22339077 PMID:22529939 PMID:22622662 PMID:22628360 PMID:23045425 PMID:23056398 PMID:23149434 PMID:23165795 PMID:23573386 PMID:23972473 PMID:24715719 PMID:24728327 PMID:24863959 PMID:25157968 PMID:25271085 PMID:25505835 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25777271 PMID:25809207 PMID:26126848 PMID:26220993 PMID:26380986 PMID:26467025 PMID:26619011 PMID:26740388 PMID:26818779 PMID:26887047 PMID:26992226 PMID:28230213 PMID:28454995 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29620724 PMID:29681095 PMID:29758562 PMID:30138938 PMID:30160829 PMID:30355600 PMID:30692697 PMID:31130284 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:33942288 PMID:35726512 PMID:36135330 PMID:36373817 PMID:36474027 PMID:36714562 More...
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RGD:11568054 |
NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692
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NPPC |
natriuretic peptide C |
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ISO |
OMIM:100800 |
MouseDO |
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NCBI chr2B:119,148,774...119,153,381
Ensembl chr2B:237,936,939...237,941,244
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G |
NPR2 |
natriuretic peptide receptor 2 |
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ISO |
DNA:missense mutation:cds:p.L885R (mouse) OMIM:100800 |
RGD MouseDO |
PMID:15722353 |
RGD:1580771 |
NCBI chr 9:35,642,534...35,660,210
Ensembl chr 9:36,445,576...36,462,637
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PTHLH |
parathyroid hormone like hormone |
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ISO |
OMIM:100800 |
MouseDO |
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NCBI chr12:58,341,361...58,355,804
Ensembl chr12:60,960,071...60,973,750
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SPRED2 |
sprouty related EVH1 domain containing 2 |
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ISO |
OMIM:100800 |
MouseDO |
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NCBI chr2A:65,380,608...65,503,139
Ensembl chr2A:66,503,260...66,624,840
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FGFR3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: Achondroplastic dwarfism |
ClinVar |
PMID:1908846 PMID:4697848 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 PMID:7847369 PMID:7913883 PMID:8078586 PMID:8589686 PMID:8589699 PMID:8640234 PMID:8673103 PMID:8723101 PMID:8723106 PMID:8841188 PMID:8845844 PMID:8858131 PMID:9042914 PMID:9107244 PMID:9207791 PMID:9279753 PMID:9279764 PMID:9300656 PMID:9438390 PMID:9450868 PMID:9452043 PMID:9525367 PMID:9580776 PMID:9585583 PMID:9600744 PMID:9672519 PMID:9677066 PMID:9790257 PMID:9842995 PMID:9843059 PMID:9857065 PMID:9950359 PMID:10053006 PMID:10073901 PMID:10094188 PMID:10215410 PMID:10360392 PMID:10360393 PMID:10361991 PMID:10395236 PMID:10425034 PMID:10471491 PMID:10607835 PMID:10671061 PMID:10696568 PMID:10777366 PMID:10861678 PMID:10979354 PMID:11030304 PMID:11038465 PMID:11055896 PMID:11186939 PMID:11186940 PMID:11241532 PMID:11424131 PMID:11529856 PMID:11746040 PMID:11754059 PMID:11879084 PMID:12009017 PMID:12707965 PMID:12833394 PMID:14613973 PMID:15241680 PMID:15517832 PMID:15772091 PMID:15915095 PMID:16766665 PMID:16841094 PMID:16912704 PMID:17256796 PMID:17384684 PMID:17509076 PMID:17526800 PMID:17552943 PMID:17875876 PMID:18076102 PMID:18198189 PMID:18266238 PMID:18583390 PMID:18642369 PMID:19088846 PMID:19215249 PMID:19381019 PMID:19749790 PMID:20301331 PMID:20301540 PMID:20301588 PMID:20301628 PMID:20420824 PMID:20453470 PMID:20624921 PMID:21324899 PMID:21510009 PMID:21739570 PMID:22016144 PMID:22045636 PMID:22339077 PMID:22622662 PMID:22628360 PMID:23045425 PMID:23056398 PMID:23149434 PMID:23165795 PMID:23573386 PMID:23972473 PMID:24715719 PMID:24728327 PMID:24863959 PMID:25157968 PMID:25271085 PMID:25606676 PMID:25614871 PMID:25691418 PMID:25728633 PMID:25741868 PMID:25809207 PMID:26220993 PMID:26380986 PMID:26619011 PMID:26740388 PMID:26818779 PMID:26992226 PMID:28230213 PMID:28454995 PMID:28492532 PMID:28777845 PMID:29593476 PMID:29620724 PMID:29681095 PMID:29758562 PMID:30138938 PMID:30355600 PMID:30692697 PMID:31130284 PMID:31218223 PMID:31299979 PMID:31994750 PMID:32238909 PMID:32502767 PMID:33942288 PMID:35726512 PMID:36135330 PMID:36474027 More...
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NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692
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IHH |
Indian hedgehog signaling molecule |
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ISO |
ClinVar Annotator: match by term: Acrocapitofemoral dysplasia |
OMIM ClinVar |
PMID:12624140 PMID:12632327 PMID:25741868 PMID:28492532 PMID:34530144 |
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NCBI chr2B:106,312,472...106,319,124
Ensembl chr2B:224,906,271...224,911,506
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FAM20A |
FAM20A golgi associated secretory pathway pseudokinase |
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ISO |
ClinVar Annotator: match by term: Acrodysostosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:62,474,317...62,537,800
Ensembl chr17:67,864,331...67,927,128
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PDE4D |
phosphodiesterase 4D |
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ISO |
ClinVar Annotator: match by term: Acrodysostosis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:53,510,287...55,039,181
Ensembl chr 5:55,749,214...56,670,111
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PRKAR1A |
protein kinase cAMP-dependent type I regulatory subunit alpha |
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ISO |
ClinVar Annotator: match by term: Acrodysostosis | ClinVar Annotator: match by term: Peripheral dysostosis-nasal hypoplasia-mental retardation (PNM) syndrome |
ClinVar |
PMID:11115848 PMID:15371594 PMID:18241045 PMID:19293268 PMID:21651393 PMID:22464250 PMID:22785148 PMID:23043190 PMID:23942052 PMID:25637381 PMID:25741868 PMID:26405036 PMID:27589370 PMID:28051113 PMID:28492532 PMID:28518168 PMID:28804209 PMID:29264456 PMID:32191290 PMID:32287321 PMID:32461654 PMID:34313605 More...
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NCBI chr17:62,448,718...62,488,493
Ensembl chr17:67,838,484...67,877,943
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PRKAR1A |
protein kinase cAMP-dependent type I regulatory subunit alpha |
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ISO |
ClinVar Annotator: match by term: Acrodysostosis 1 with or without hormone resistance |
OMIM ClinVar |
PMID:11115848 PMID:11200992 PMID:15371594 PMID:18241045 PMID:19293268 PMID:20358582 PMID:21651393 PMID:22464250 PMID:22464252 PMID:22785148 PMID:23043190 PMID:23425300 PMID:23942052 PMID:25637381 PMID:25741868 PMID:26405036 PMID:27589370 PMID:28051113 PMID:28492532 PMID:28518168 PMID:28804209 PMID:29264456 PMID:30426508 PMID:32191290 PMID:32287321 PMID:32461654 PMID:34313605 More...
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NCBI chr17:62,448,718...62,488,493
Ensembl chr17:67,838,484...67,877,943
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DEPDC1B |
DEP domain containing 1B |
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ISO |
ClinVar Annotator: match by term: Acrodysostosis 2 with or without hormone resistance |
ClinVar |
PMID:21681106 PMID:24203977 |
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NCBI chr 5:53,300,423...53,406,947
Ensembl chr 5:54,951,596...55,045,820
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G |
PDE4D |
phosphodiesterase 4D |
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ISO |
ClinVar Annotator: match by term: Acrodysostosis 2 with or without hormone resistance | ClinVar Annotator: match by term: PDE4D-related condition |
OMIM ClinVar |
PMID:11200992 PMID:12121997 PMID:15025561 PMID:21681106 PMID:22464250 PMID:22464252 PMID:23033274 PMID:24033266 PMID:24203977 PMID:25044890 PMID:25064455 PMID:25741868 PMID:28492532 PMID:30006632 PMID:33858404 More...
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NCBI chr 5:53,510,287...55,039,181
Ensembl chr 5:55,749,214...56,670,111
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GDF5 |
growth differentiation factor 5 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dwarfism | ClinVar Annotator: match by term: Acromesomelic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr20:31,761,199...31,766,229
Ensembl chr20:32,882,094...32,886,899
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NPR2 |
natriuretic peptide receptor 2 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:35,642,534...35,660,210
Ensembl chr 9:36,445,576...36,462,637
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GDF5 |
growth differentiation factor 5 |
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ISO |
ClinVar Annotator: match by term: Grebe syndrome |
OMIM ClinVar |
PMID:9288098 PMID:12124730 PMID:12900894 PMID:17384641 PMID:25741868 PMID:28492532 More...
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NCBI chr20:31,761,199...31,766,229
Ensembl chr20:32,882,094...32,886,899
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BMPR1B |
bone morphogenetic protein receptor type 1B |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type |
ClinVar |
PMID:29322508 |
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NCBI chr 4:87,125,911...87,523,084
Ensembl chr 4:98,088,072...98,195,848
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GDF5 |
growth differentiation factor 5 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type | ClinVar Annotator: match by term: Acromesomelic dysplasia, Hunter-Thompson type |
OMIM ClinVar |
PMID:2703235 PMID:8589725 PMID:17384641 PMID:25741868 PMID:28492532 |
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NCBI chr20:31,761,199...31,766,229
Ensembl chr20:32,882,094...32,886,899
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ANKRD18B |
ankyrin repeat domain 18B |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chr 9:33,305,062...33,383,152
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APTX |
aprataxin |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chr 9:32,747,409...32,819,270
Ensembl chr 9:33,556,419...33,585,060
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AQP3 |
aquaporin 3 (Gill blood group) |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chr 9:33,221,989...33,228,469
Ensembl chr 9:34,032,983...34,039,438
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AQP7 |
aquaporin 7 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chr 9:33,160,982...33,180,638
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ARHGEF39 |
Rho guanine nucleotide exchange factor 39 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chr 9:35,510,876...35,517,299
Ensembl chr 9:36,313,296...36,319,732
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ARID3C |
AT-rich interaction domain 3C |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chr 9:34,457,638...34,466,425
Ensembl chr 9:35,267,063...35,275,057
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ATOSB |
atos homolog B |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chr 9:34,954,618...34,966,860
Ensembl chr 9:35,760,019...35,771,911
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B4GALT1 |
beta-1,4-galactosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chr 9:32,889,124...32,945,759
Ensembl chr 9:33,691,733...33,754,192
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BAG1 |
BAG cochaperone 1 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chr 9:33,033,267...33,043,013
Ensembl chr 9:33,841,449...33,851,167
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CA9 |
carbonic anhydrase 9 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chr 9:35,525,877...35,533,159
Ensembl chr 9:36,328,303...36,335,340
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CCDC107 |
coiled-coil domain containing 107 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chr 9:35,510,289...35,513,195
Ensembl chr 9:36,312,688...36,315,926
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CCIN |
calicin |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chr 9:36,014,394...36,021,056
Ensembl chr 9:36,820,373...36,822,139
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CCL19 |
C-C motif chemokine ligand 19 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chr 9:34,525,820...34,527,628
Ensembl chr 9:35,334,353...35,336,108
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CCL21 |
C-C motif chemokine ligand 21 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chr 9:34,545,248...34,546,801
Ensembl chr 9:35,353,768...35,354,924
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CCL27 |
C-C motif chemokine ligand 27 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chr 9:34,498,478...34,501,475
Ensembl chr 9:35,307,175...35,308,146
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CD72 |
CD72 molecule |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chr 9:35,461,685...35,470,578
Ensembl chr 9:36,264,500...36,273,326
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CHMP5 |
charged multivesicular body protein 5 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chr 9:33,043,148...33,059,564
Ensembl chr 9:33,851,377...33,867,942
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CIMIP2B |
ciliary microtubule inner protein 2B |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chr 9:35,411,930...35,442,971
Ensembl chr 9:36,216,030...36,260,042
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CLTA |
clathrin light chain A |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chr 9:36,040,566...36,061,744
Ensembl chr 9:36,840,868...36,862,528
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G |
CNTFR |
ciliary neurotrophic factor receptor |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chr 9:34,387,929...34,426,907
Ensembl chr 9:35,197,474...35,214,977
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G |
CREB3 |
cAMP responsive element binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chr 9:35,583,351...35,587,870
Ensembl chr 9:36,385,867...36,390,540
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G |
DCAF12 |
DDB1 and CUL4 associated factor 12 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chr 9:33,923,900...33,964,443
Ensembl chr 9:34,733,845...34,775,624
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G |
DCTN3 |
dynactin subunit 3 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chr 9:34,450,134...34,457,112
Ensembl chr 9:35,259,561...35,266,533
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DNAI1 |
dynein axonemal intermediate chain 1 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chr 9:34,295,010...34,357,331
Ensembl chr 9:35,104,297...35,167,454
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DNAJA1 |
DnaJ heat shock protein family (Hsp40) member A1 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chr 9:32,800,077...32,814,745
Ensembl chr 9:33,608,502...33,622,275
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G |
DNAJB5 |
DnaJ heat shock protein family (Hsp40) member B5 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chr 9:34,836,691...34,845,471
Ensembl chr 9:35,643,056...35,651,879
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ENHO |
energy homeostasis associated |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chr 9:34,357,384...34,359,369
Ensembl chr 9:35,167,934...35,168,164
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G |
EXOSC3 |
exosome component 3 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chr 9:37,611,173...37,634,869
Ensembl chr 9:38,552,659...38,558,078
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G |
FAM219A |
family with sequence similarity 219 member A |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chr 9:34,234,499...34,294,823
Ensembl chr 9:35,043,472...35,103,920
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G |
FAM221B |
family with sequence similarity 221 member B |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chr 9:35,668,180...35,679,557
Ensembl chr 9:36,471,284...36,479,018
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G |
FANCG |
FA complementation group G |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chr 9:34,924,399...34,931,077
Ensembl chr 9:35,730,176...35,736,648
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G |
FBXO10 |
F-box protein 10 |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chr 9:37,355,861...37,421,321
Ensembl chr 9:38,279,653...38,345,040
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G |
FRMPD1 |
FERM and PDZ domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chr 9:37,497,210...37,595,867
Ensembl chr 9:38,421,706...38,519,025
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G |
GALT |
galactose-1-phosphate uridylyltransferase |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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G |
GBA2 |
glucosylceramidase beta 2 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:35,587,876...35,599,971
Ensembl chr 9:36,390,409...36,402,949
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G |
GLIPR2 |
GLI pathogenesis related 2 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chr 9:35,986,341...36,013,662
Ensembl chr 9:36,787,649...36,814,812
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G |
GNE |
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chr 9:36,064,128...36,107,822
Ensembl chr 9:36,867,096...36,926,588
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G |
GRHPR |
glyoxylate and hydroxypyruvate reductase |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chr 9:37,267,918...37,282,253
Ensembl chr 9:38,192,149...38,206,478
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G |
HINT2 |
histidine triad nucleotide binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chr 9:35,663,433...35,666,479
Ensembl chr 9:36,465,806...36,468,325
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G |
HRCT1 |
histidine rich carboxyl terminus 1 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chr 9:35,760,064...35,762,224
Ensembl chr 9:36,559,012...36,559,362
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G |
IL11RA |
interleukin 11 receptor subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chr 9:34,487,313...34,498,477
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G |
KIF24 |
kinesin family member 24 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:34,088,760...34,165,306
Ensembl chr 9:34,898,729...34,973,978
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G |
LOC100981170 |
olfactory receptor 13J1 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
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NCBI chr 9:35,718,990...35,722,649
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G |
MELK |
maternal embryonic leucine zipper kinase |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:36,419,974...36,522,584
Ensembl chr 9:37,219,170...37,321,318
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G |
MSMP |
microseminoprotein, prostate associated |
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ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:35,603,948...35,605,085
Ensembl chr 9:36,406,679...36,407,845
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G |
MYORG |
myogenesis regulating glycosidase (putative) |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:34,205,177...34,213,351
Ensembl chr 9:35,015,847...35,017,991
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G |
NDUFB6 |
NADH:ubiquinone oxidoreductase subunit B6 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:32,327,973...32,347,518
Ensembl chr 9:33,137,836...33,157,006
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G |
NFX1 |
nuclear transcription factor, X-box binding 1 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:33,068,235...33,149,271
Ensembl chr 9:33,876,836...33,959,924
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G |
NOL6 |
nucleolar protein 6 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:33,242,163...33,291,503
Ensembl chr 9:34,053,100...34,100,854
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G |
NPR2 |
natriuretic peptide receptor 2 |
|
ISO |
ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 1 | ClinVar Annotator: match by term: Acromesomelic dwarfism Maroteux type | ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type | ClinVar Annotator: match by term: Acromesomelic dysplasia, Maroteaux type | ClinVar Annotator: match by term: ST. HELENA DYSPLASIA |
OMIM ClinVar |
PMID:9536098 PMID:15146390 PMID:15572448 PMID:16199547 PMID:16384845 PMID:17576681 PMID:18945719 PMID:22691581 PMID:23065701 PMID:24001744 PMID:24259409 PMID:24471569 PMID:25387261 PMID:25703509 PMID:25741868 PMID:25959430 PMID:26075495 PMID:26284228 PMID:26349192 PMID:26567084 PMID:26633542 PMID:26980729 PMID:27994189 PMID:28492532 PMID:30359775 PMID:30408610 PMID:30602027 PMID:30622824 PMID:31960617 PMID:31990356 PMID:32506268 PMID:32694885 PMID:32720985 PMID:33205215 PMID:33288834 PMID:34006472 PMID:34008892 PMID:34162036 PMID:34217350 PMID:35368703 PMID:35455946 More...
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NCBI chr 9:35,642,534...35,660,210
Ensembl chr 9:36,445,576...36,462,637
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G |
NUDT2 |
nudix hydrolase 2 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:34,165,452...34,179,722
Ensembl chr 9:34,974,240...34,988,453
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G |
PAX5 |
paired box 5 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:36,677,369...36,876,678
Ensembl chr 9:37,474,267...37,673,684
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G |
PHF24 |
PHD finger protein 24 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:34,735,800...34,829,555
Ensembl chr 9:35,611,517...35,635,964
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G |
PIGO |
phosphatidylinositol glycan anchor biosynthesis class O |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:34,939,258...34,947,167
Ensembl chr 9:35,744,664...35,752,522
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G |
POLR1E |
RNA polymerase I subunit E |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:37,331,149...37,348,652
Ensembl chr 9:38,255,067...38,272,498
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G |
PRSS3 |
serine protease 3 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:33,589,522...33,637,991
Ensembl chr 9:34,401,323...34,449,666
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G |
RECK |
reversion inducing cysteine rich protein with kazal motifs |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:35,886,741...35,974,133
Ensembl chr 9:36,699,631...36,774,116
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G |
RGP1 |
RGP1 homolog, RAB6A GEF complex partner 1 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:35,600,213...35,641,371
Ensembl chr 9:36,403,447...36,411,420
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G |
RIGI |
RNA sensor RIG-I |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:32,230,012...32,302,159
Ensembl chr 9:33,040,000...33,110,557
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G |
RNF38 |
ring finger protein 38 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:36,185,284...36,335,915
Ensembl chr 9:36,985,433...37,048,013
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G |
RPP25L |
ribonuclease P/MRP subunit p25 like |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:34,447,073...34,448,762
Ensembl chr 9:35,256,822...35,257,313
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G |
RUSC2 |
RUN and SH3 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:35,339,146...35,411,989
Ensembl chr 9:36,200,865...36,215,582
|
|
G |
SIGMAR1 |
sigma non-opioid intracellular receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:34,471,362...34,474,459
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|
G |
SIT1 |
signaling threshold regulating transmembrane adaptor 1 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:35,501,346...35,502,992
Ensembl chr 9:36,303,675...36,305,328
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|
G |
SMU1 |
SMU1 DNA replication regulator and spliceosomal factor |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:32,819,539...32,851,273
Ensembl chr 9:33,628,027...33,659,539
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G |
SPAG8 |
sperm associated antigen 8 |
|
ISO |
ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 1 | ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type | ClinVar Annotator: match by term: Acromesomelic dysplasia, Maroteaux type |
ClinVar |
PMID:15146390 PMID:15572448 PMID:16199547 PMID:16384845 PMID:18945719 PMID:22691581 PMID:25387261 PMID:25741868 PMID:26567084 PMID:26633542 PMID:28492532 PMID:30359775 PMID:30408610 PMID:30622824 PMID:31960617 PMID:32720985 PMID:33288834 More...
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NCBI chr 9:35,658,541...35,662,920
Ensembl chr 9:36,460,951...36,465,112
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G |
SPATA31F1 |
SPATA31 subfamily F member 1 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:34,674,545...34,680,875
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G |
SPATA31G1 |
SPATA31 subfamily G member 1 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:34,892,418...34,896,577
Ensembl chr 9:35,697,549...35,702,395
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G |
SPINK4 |
serine peptidase inhibitor Kazal type 4 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
|
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G |
SPMIP6 |
sperm microtubule inner protein 6 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:34,215,298...34,234,358
Ensembl chr 9:35,024,088...35,043,323
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G |
STOML2 |
stomatin like 2 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:34,950,387...34,953,707
Ensembl chr 9:35,755,790...35,759,091
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G |
TAF1L |
TATA-box binding protein associated factor 1 like |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:32,403,835...32,409,767
Ensembl chr 9:33,216,048...33,221,525
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G |
TESK1 |
testis associated actin remodelling kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:35,456,965...35,461,736
Ensembl chr 9:36,258,902...36,264,545
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G |
TLN1 |
talin 1 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:35,549,328...35,583,376
Ensembl chr 9:36,351,836...36,379,228
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G |
TMEM215 |
transmembrane protein 215 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:32,557,141...32,563,166
Ensembl chr 9:33,369,459...33,370,166
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G |
TMEM8B |
transmembrane protein 8B |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:35,679,698...35,704,945
Ensembl chr 9:36,482,289...36,507,300
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G |
TOMM5 |
translocase of outer mitochondrial membrane 5 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:37,433,186...37,437,397
Ensembl chr 9:38,357,617...38,361,267
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G |
TOPORS |
TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:32,314,850...32,327,067
Ensembl chr 9:33,124,730...33,135,129
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G |
TPM2 |
tropomyosin 2 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:35,533,982...35,542,033
Ensembl chr 9:36,336,307...36,345,394
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G |
TRMT10B |
tRNA methyltransferase 10B |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:37,602,757...37,628,693
Ensembl chr 9:38,526,496...38,551,902
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G |
UBAP1 |
ubiquitin associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:34,015,077...34,088,908
Ensembl chr 9:34,825,825...34,898,868
|
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G |
UBAP2 |
ubiquitin associated protein 2 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:33,759,877...33,887,146
Ensembl chr 9:34,570,883...34,697,752
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G |
UBE2R2 |
ubiquitin conjugating enzyme E2 R2 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:33,655,690...33,758,587
|
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G |
UNC13B |
unc-13 homolog B |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:35,011,350...35,255,148
Ensembl chr 9:35,817,353...36,059,894
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G |
VCP |
valosin containing protein |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:34,907,147...34,923,227
Ensembl chr 9:35,712,937...35,729,588
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G |
ZBTB5 |
zinc finger and BTB domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:37,282,824...37,310,710
Ensembl chr 9:38,209,979...38,212,012
|
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G |
ZCCHC7 |
zinc finger CCHC-type containing 7 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:36,962,689...37,201,092
|
|
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G |
BMPR1B |
bone morphogenetic protein receptor type 1B |
|
ISO |
ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 3 | ClinVar Annotator: match by term: Acromesomelic dysplasia 3 | ClinVar Annotator: match by term: Acromesomelic dysplasia, Demirhan type | ClinVar Annotator: match by term: CHONDRODYSPLASIA, ACROMESOMELIC, WITH OR WITHOUT GENITAL ANOMALIES |
OMIM ClinVar |
PMID:15805157 PMID:22374147 PMID:24129431 PMID:25741868 PMID:25758993 PMID:26105076 PMID:28492532 PMID:35034853 More...
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NCBI chr 4:87,125,911...87,523,084
Ensembl chr 4:98,088,072...98,195,848
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|
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G |
PRKG2 |
protein kinase cGMP-dependent 2 |
|
ISO |
ClinVar Annotator: match by term: Acromesomelic dysplasia 4 |
OMIM ClinVar |
PMID:25741868 PMID:33106379 PMID:34782440 |
|
NCBI chr 4:42,987,217...43,114,993
Ensembl chr 4:48,836,953...48,960,383
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G |
ADAMTSL2 |
ADAMTS like 2 |
|
ISO |
ClinVar Annotator: match by term: Geleophysic dwarfism |
ClinVar |
PMID:24014090 PMID:25741868 PMID:26879370 PMID:33369194 PMID:36474027 |
|
NCBI chr 9:104,658,540...104,698,854
Ensembl chr 9:133,269,369...133,309,602
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G |
FBN1 |
fibrillin 1 |
|
ISO |
ClinVar Annotator: match by term: Acromicric dysplasia | ClinVar Annotator: match by term: Acromicric skeletal dysplasia ClinVar Annotator: match by term: Acromicric dysplasia | ClinVar Annotator: match by term: Acromicric skeletal dysplasia | ClinVar Annotator: match by term: Geleophysic dwarfism |
OMIM ClinVar |
PMID:627879 PMID:948948 PMID:960337 PMID:1852206 PMID:2005308 PMID:2254511 PMID:3212331 PMID:3495735 PMID:3536967 PMID:4750422 PMID:7738200 PMID:7802039 PMID:7870075 PMID:8004112 PMID:8040326 PMID:8281141 PMID:8430317 PMID:8541880 PMID:8563763 PMID:8653794 PMID:8723076 PMID:8791520 PMID:8941093 PMID:8988160 PMID:9150726 PMID:9338581 PMID:9338588 PMID:9399842 PMID:9401003 PMID:9452085 PMID:9536098 PMID:9817919 PMID:9837823 PMID:9876915 PMID:10189222 PMID:10198291 PMID:10464652 PMID:10486319 PMID:10533071 PMID:10612827 PMID:10633129 PMID:10679954 PMID:10694921 PMID:11068200 PMID:11139245 PMID:11143906 PMID:11175294 PMID:11315929 PMID:11524736 PMID:11700157 PMID:11702223 PMID:11748851 PMID:11826022 PMID:11875032 PMID:11933199 PMID:11992479 PMID:12068374 PMID:12161601 PMID:12203987 PMID:12203992 PMID:12402346 PMID:12446365 PMID:12651868 PMID:12938084 PMID:14598350 PMID:14695540 PMID:15054843 PMID:15062093 PMID:15161917 PMID:15241795 PMID:15598221 PMID:15880509 PMID:15980072 PMID:15983637 PMID:16061422 PMID:16199547 PMID:16220557 PMID:16222657 PMID:16273536 PMID:16333834 PMID:16342915 PMID:16571647 PMID:16677079 PMID:16756980 PMID:16765689 PMID:16835936 PMID:16905551 PMID:16971892 PMID:17242066 PMID:17253931 PMID:17418587 PMID:17503327 PMID:17576681 PMID:17627385 PMID:17657824 PMID:17663468 PMID:17679947 PMID:17701892 PMID:17718856 PMID:18079676 PMID:18087243 PMID:18435798 PMID:18615205 PMID:19012347 PMID:19059503 PMID:19089573 PMID:19159394 PMID:19161152 PMID:19293843 PMID:19328768 PMID:19349279 PMID:19353630 PMID:19370756 PMID:19396033 PMID:19533785 PMID:19618372 PMID:19780835 PMID:19802897 PMID:19839986 PMID:19863550 PMID:19941982 PMID:20200614 PMID:20301510 PMID:20375004 PMID:20564469 PMID:20591885 PMID:20699357 PMID:20886638 PMID:20979188 PMID:21542060 PMID:21594992 PMID:21594993 PMID:21683322 PMID:21784848 PMID:21883168 PMID:21895641 PMID:21907952 PMID:21932315 PMID:22772377 PMID:22950452 PMID:23133647 PMID:23278365 PMID:23506379 PMID:23577066 PMID:23590259 PMID:23608731 PMID:23653584 PMID:23684891 PMID:23719250 PMID:23794388 PMID:23897642 PMID:24033266 PMID:24039054 PMID:24055113 PMID:24161884 PMID:24199744 PMID:24311428 PMID:24339047 PMID:24564502 PMID:24635535 PMID:24665001 PMID:24740214 PMID:24793577 PMID:24833718 PMID:24941995 PMID:25053872 PMID:25101912 PMID:25203624 PMID:25326635 PMID:25363768 PMID:25504618 PMID:25519456 PMID:25637381 PMID:25644172 PMID:25652356 PMID:25736269 PMID:25741868 PMID:25812041 PMID:25852444 PMID:25900864 PMID:25907466 PMID:25944730 PMID:25979247 PMID:26017485 PMID:26026792 PMID:26133393 PMID:26188975 PMID:26214305 PMID:26269718 PMID:26272055 PMID:26272908 PMID:26332594 PMID:26333736 PMID:26498160 PMID:26559152 PMID:26621581 PMID:26684006 PMID:26764160 PMID:26787436 PMID:26875674 PMID:27058611 PMID:27106435 PMID:27112580 PMID:27146836 PMID:27153395 PMID:27234404 PMID:27245183 PMID:27274304 PMID:27353645 PMID:27382527 PMID:27437668 PMID:27582083 PMID:27611364 PMID:27647783 PMID:27724990 PMID:27906200 PMID:27930701 PMID:27935852 PMID:27959697 PMID:28050602 PMID:28087566 PMID:28098115 PMID:28254189 PMID:28301460 PMID:28468757 PMID:28492532 PMID:28497567 PMID:28539832 PMID:28550590 PMID:28636274 PMID:28642162 PMID:28650953 PMID:28655553 PMID:28659821 PMID:28847661 PMID:28855619 PMID:28901506 PMID:28941062 PMID:28973303 PMID:29168297 PMID:29357934 PMID:29510914 PMID:29543232 PMID:29768367 PMID:29845260 PMID:29848614 PMID:29875124 PMID:29907982 PMID:30056620 PMID:30057829 PMID:30086531 PMID:30341550 PMID:30471092 PMID:30513137 PMID:30542390 PMID:30653986 PMID:30675029 PMID:30739908 PMID:30796334 PMID:30838813 PMID:31008308 PMID:31020005 PMID:31098894 PMID:31163209 PMID:31167969 PMID:31211624 PMID:31211626 PMID:31227806 PMID:31322791 PMID:31506931 PMID:31605817 PMID:31727422 PMID:31730815 PMID:31751304 PMID:31774634 PMID:31825148 PMID:31903434 PMID:31950671 PMID:32009526 PMID:32123317 PMID:32679894 PMID:32730690 PMID:32938213 PMID:32939518 PMID:33082559 PMID:33100332 PMID:33243733 PMID:33282382 PMID:33436942 PMID:33483584 PMID:33824467 PMID:34008892 PMID:34135346 PMID:34281902 PMID:34422331 PMID:34456093 PMID:34498425 PMID:34653508 PMID:34818515 PMID:35234813 PMID:35531120 PMID:35877578 PMID:36973604 PMID:37042257 PMID:37460677 PMID:37684520 More...
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NCBI chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111
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SMAD2 |
SMAD family member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18677313 |
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NCBI chr18:41,213,001...41,309,902
Ensembl chr18:44,580,905...44,668,530
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TGFB1 |
transforming growth factor beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18677313 |
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NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
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LBR |
lamin B receptor |
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ISO |
ClinVar Annotator: match by term: Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia |
ClinVar |
PMID:18382993 PMID:25348816 PMID:25741868 PMID:28492532 |
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NCBI chr 1:200,865,602...200,892,199
Ensembl chr 1:205,870,394...205,893,032
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ARHGEF39 |
Rho guanine nucleotide exchange factor 39 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:35,510,876...35,517,299
Ensembl chr 9:36,313,296...36,319,732
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ARID3C |
AT-rich interaction domain 3C |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:34,457,638...34,466,425
Ensembl chr 9:35,267,063...35,275,057
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ATOSB |
atos homolog B |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:34,954,618...34,966,860
Ensembl chr 9:35,760,019...35,771,911
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CA9 |
carbonic anhydrase 9 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:35,525,877...35,533,159
Ensembl chr 9:36,328,303...36,335,340
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CCDC107 |
coiled-coil domain containing 107 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:8034306 PMID:8444246 PMID:9156319 PMID:10026268 PMID:11207361 PMID:11940090 PMID:12107819 PMID:12888988 PMID:14569119 PMID:16097009 PMID:16254002 PMID:16838329 PMID:17701897 PMID:18804272 PMID:25741868 PMID:28094436 PMID:28492532 More...
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NCBI chr 9:35,510,289...35,513,195
Ensembl chr 9:36,312,688...36,315,926
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CCIN |
calicin |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:36,014,394...36,021,056
Ensembl chr 9:36,820,373...36,822,139
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CCL19 |
C-C motif chemokine ligand 19 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:34,525,820...34,527,628
Ensembl chr 9:35,334,353...35,336,108
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CCL21 |
C-C motif chemokine ligand 21 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:34,545,248...34,546,801
Ensembl chr 9:35,353,768...35,354,924
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CCL27 |
C-C motif chemokine ligand 27 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:34,498,478...34,501,475
Ensembl chr 9:35,307,175...35,308,146
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CD72 |
CD72 molecule |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:35,461,685...35,470,578
Ensembl chr 9:36,264,500...36,273,326
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CIMIP2B |
ciliary microtubule inner protein 2B |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:35,411,930...35,442,971
Ensembl chr 9:36,216,030...36,260,042
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CLTA |
clathrin light chain A |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:36,040,566...36,061,744
Ensembl chr 9:36,840,868...36,862,528
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CNTFR |
ciliary neurotrophic factor receptor |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:34,387,929...34,426,907
Ensembl chr 9:35,197,474...35,214,977
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CREB3 |
cAMP responsive element binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:35,583,351...35,587,870
Ensembl chr 9:36,385,867...36,390,540
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DCTN3 |
dynactin subunit 3 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:34,450,134...34,457,112
Ensembl chr 9:35,259,561...35,266,533
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DNAI1 |
dynein axonemal intermediate chain 1 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:34,295,010...34,357,331
Ensembl chr 9:35,104,297...35,167,454
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DNAJB5 |
DnaJ heat shock protein family (Hsp40) member B5 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:34,836,691...34,845,471
Ensembl chr 9:35,643,056...35,651,879
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ENHO |
energy homeostasis associated |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:34,357,384...34,359,369
Ensembl chr 9:35,167,934...35,168,164
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FAM219A |
family with sequence similarity 219 member A |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:34,234,499...34,294,823
Ensembl chr 9:35,043,472...35,103,920
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FAM221B |
family with sequence similarity 221 member B |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:35,668,180...35,679,557
Ensembl chr 9:36,471,284...36,479,018
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FANCG |
FA complementation group G |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:34,924,399...34,931,077
Ensembl chr 9:35,730,176...35,736,648
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GALT |
galactose-1-phosphate uridylyltransferase |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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GBA2 |
glucosylceramidase beta 2 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:35,587,876...35,599,971
Ensembl chr 9:36,390,409...36,402,949
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GLIPR2 |
GLI pathogenesis related 2 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:35,986,341...36,013,662
Ensembl chr 9:36,787,649...36,814,812
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GNE |
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:36,064,128...36,107,822
Ensembl chr 9:36,867,096...36,926,588
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HINT2 |
histidine triad nucleotide binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:35,663,433...35,666,479
Ensembl chr 9:36,465,806...36,468,325
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HRCT1 |
histidine rich carboxyl terminus 1 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:35,760,064...35,762,224
Ensembl chr 9:36,559,012...36,559,362
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IL11RA |
interleukin 11 receptor subunit alpha |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:34,487,313...34,498,477
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LOC100977215 |
uncharacterized LOC100977215 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:34,501,614...34,502,680
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LOC100981170 |
olfactory receptor 13J1 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:35,718,990...35,722,649
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MSMP |
microseminoprotein, prostate associated |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:35,603,948...35,605,085
Ensembl chr 9:36,406,679...36,407,845
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MYORG |
myogenesis regulating glycosidase (putative) |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:34,205,177...34,213,351
Ensembl chr 9:35,015,847...35,017,991
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NPR2 |
natriuretic peptide receptor 2 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:35,642,534...35,660,210
Ensembl chr 9:36,445,576...36,462,637
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PHF24 |
PHD finger protein 24 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:34,735,800...34,829,555
Ensembl chr 9:35,611,517...35,635,964
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PIGO |
phosphatidylinositol glycan anchor biosynthesis class O |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:34,939,258...34,947,167
Ensembl chr 9:35,744,664...35,752,522
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RECK |
reversion inducing cysteine rich protein with kazal motifs |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:35,886,741...35,974,133
Ensembl chr 9:36,699,631...36,774,116
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RGP1 |
RGP1 homolog, RAB6A GEF complex partner 1 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:35,600,213...35,641,371
Ensembl chr 9:36,403,447...36,411,420
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RPP25L |
ribonuclease P/MRP subunit p25 like |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:34,447,073...34,448,762
Ensembl chr 9:35,256,822...35,257,313
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RUSC2 |
RUN and SH3 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:35,339,146...35,411,989
Ensembl chr 9:36,200,865...36,215,582
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SIGMAR1 |
sigma non-opioid intracellular receptor 1 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:34,471,362...34,474,459
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SIT1 |
signaling threshold regulating transmembrane adaptor 1 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:35,501,346...35,502,992
Ensembl chr 9:36,303,675...36,305,328
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SPAAR |
small regulatory polypeptide of amino acid response |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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Ensembl chr 9:36,563,148...36,563,420
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SPAG8 |
sperm associated antigen 8 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:35,658,541...35,662,920
Ensembl chr 9:36,460,951...36,465,112
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SPATA31F1 |
SPATA31 subfamily F member 1 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:34,674,545...34,680,875
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SPATA31F3 |
SPATA31 subfamily F member 3 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:34,735,282...34,741,992
Ensembl chr 9:35,545,038...35,551,746
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SPATA31G1 |
SPATA31 subfamily G member 1 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:34,892,418...34,896,577
Ensembl chr 9:35,697,549...35,702,395
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SPMIP6 |
sperm microtubule inner protein 6 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:34,215,298...34,234,358
Ensembl chr 9:35,024,088...35,043,323
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STOML2 |
stomatin like 2 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:34,950,387...34,953,707
Ensembl chr 9:35,755,790...35,759,091
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TESK1 |
testis associated actin remodelling kinase 1 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:35,456,965...35,461,736
Ensembl chr 9:36,258,902...36,264,545
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TLN1 |
talin 1 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:35,549,328...35,583,376
Ensembl chr 9:36,351,836...36,379,228
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TMEM8B |
transmembrane protein 8B |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:35,679,698...35,704,945
Ensembl chr 9:36,482,289...36,507,300
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G |
TPM2 |
tropomyosin 2 |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:35,533,982...35,542,033
Ensembl chr 9:36,336,307...36,345,394
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G |
UNC13B |
unc-13 homolog B |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:35,011,350...35,255,148
Ensembl chr 9:35,817,353...36,059,894
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VCP |
valosin containing protein |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia |
ClinVar |
PMID:28492532 |
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NCBI chr 9:34,907,147...34,923,227
Ensembl chr 9:35,712,937...35,729,588
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CCDC107 |
coiled-coil domain containing 107 |
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ISO |
ClinVar Annotator: match by term: Spondylometaepiphyseal dysplasia Menger type |
ClinVar |
PMID:8034306 PMID:8444246 PMID:9156319 PMID:10026268 PMID:11207361 PMID:11940090 PMID:12107819 PMID:12888988 PMID:14569119 PMID:16097009 PMID:16254002 PMID:16838329 PMID:17701897 PMID:18804272 PMID:25741868 PMID:28094436 PMID:28492532 More...
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NCBI chr 9:35,510,289...35,513,195
Ensembl chr 9:36,312,688...36,315,926
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POP1 |
POP1 homolog, ribonuclease P/MRP subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 8:94,754,028...94,796,374
Ensembl chr 8:96,944,588...96,979,328
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POP1 |
POP1 homolog, ribonuclease P/MRP subunit |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia 2 | ClinVar Annotator: match by term: POP1-related condition |
OMIM ClinVar |
PMID:21455487 PMID:21534943 PMID:25741868 PMID:27380734 PMID:28067412 PMID:28492532 PMID:30408610 More...
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NCBI chr 8:94,754,028...94,796,374
Ensembl chr 8:96,944,588...96,979,328
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NEPRO |
nucleolus and neural progenitor protein |
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ISO |
ClinVar Annotator: match by term: Anauxetic dysplasia 3 |
OMIM ClinVar |
PMID:25741868 PMID:26633546 PMID:29620724 PMID:31250547 |
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NCBI chr 3:110,152,415...110,169,736
Ensembl chr 3:117,076,649...117,094,041
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ANGPTL5 |
angiopoietin like 5 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr11:96,841,228...96,866,390
Ensembl chr11:100,340,375...100,356,947
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B9D1 |
B9 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr17:31,735,065...31,779,454
Ensembl chr17:36,914,969...36,941,391
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BIRC2 |
baculoviral IAP repeat containing 2 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr11:97,298,736...97,324,966
Ensembl chr11:100,793,036...100,822,421
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BIRC3 |
baculoviral IAP repeat containing 3 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr11:97,269,778...97,290,112
Ensembl chr11:100,763,274...100,785,194
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C2CD3 |
C2 domain containing 3 centriole elongation regulator |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:25741868 PMID:26092869 |
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NCBI chr11:69,085,434...69,244,791
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CEP120 |
centrosomal protein 120 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 5:118,736,158...118,815,194
Ensembl chr 5:124,514,996...124,593,259
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CEP126 |
centrosomal protein 126 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr11:96,864,691...96,950,338
Ensembl chr11:100,363,259...100,447,121
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CFAP300 |
cilia and flagella associated protein 300 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr11:96,997,736...97,034,422
Ensembl chr11:100,495,360...100,530,638
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CILK1 |
ciliogenesis associated kinase 1 |
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ISO |
ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
ClinVar |
PMID:27466187 |
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NCBI chr 6:52,556,272...52,617,199
Ensembl chr 6:54,198,594...54,255,435
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COL2A1 |
collagen type II alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Short ribs |
ClinVar |
PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 PMID:25741868 PMID:28492532 PMID:29620724 More...
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NCBI chr12:40,726,137...40,757,690
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CSRNP3 |
cysteine and serine rich nuclear protein 3 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr2B:52,744,717...52,962,741
Ensembl chr2B:170,122,687...170,311,348
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DCUN1D5 |
defective in cullin neddylation 1 domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr11:97,996,643...98,038,108
Ensembl chr11:101,493,113...101,522,920
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DYNC2H1 |
dynein cytoplasmic 2 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
ClinVar |
PMID:6938784 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19361615 PMID:19442771 PMID:19763152 PMID:20307669 PMID:21211617 PMID:22406018 PMID:22499340 PMID:23339108 PMID:23456818 PMID:24033266 PMID:24123776 PMID:24183451 PMID:24759409 PMID:24781753 PMID:25356970 PMID:25410398 PMID:25492405 PMID:25640679 PMID:25741868 PMID:25982780 PMID:26489029 PMID:26826164 PMID:26874042 PMID:26938784 PMID:27323140 PMID:27353043 PMID:27925158 PMID:28492532 PMID:28518170 PMID:28832562 PMID:28973083 PMID:29068549 PMID:29096039 PMID:29359448 PMID:29453417 PMID:29620724 PMID:29947050 PMID:30190612 PMID:30655312 PMID:30773290 PMID:31413057 PMID:31415973 PMID:31730820 PMID:31935347 PMID:31943948 PMID:32494556 PMID:32753734 PMID:33452237 PMID:33532864 PMID:33694158 PMID:33726816 PMID:33755199 PMID:33846808 PMID:33875766 PMID:34040173 PMID:34529350 PMID:34627339 PMID:34675960 PMID:34740920 PMID:34788402 PMID:34958143 PMID:35277174 PMID:35506549 PMID:35587316 PMID:35627109 PMID:35929941 PMID:36599940 More...
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NCBI chr11:98,051,788...98,425,676
Ensembl chr11:101,536,471...101,909,194
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DYNC2I1 |
dynein 2 intermediate chain 1 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29068549 |
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Ensembl chr 7:162,140,534...162,218,224
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DYNC2I2 |
dynein 2 intermediate chain 2 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:19610081 PMID:24183451 PMID:25741868 PMID:28492532 PMID:29068549 PMID:29241935 PMID:32576942 More...
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NCBI chr 9:99,755,972...99,780,279
Ensembl chr 9:128,423,053...128,447,387
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DYNC2LI1 |
dynein cytoplasmic 2 light intermediate chain 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr2A:43,858,368...43,912,262
Ensembl chr2A:44,706,777...44,742,724
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DYNLT2B |
dynein light chain Tctex-type 2B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 3:193,636,238...193,665,254
Ensembl chr 3:203,580,040...203,607,189
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EVC2 |
EvC ciliary complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:16199547 PMID:17024374 PMID:19251731 PMID:19810119 PMID:19876929 PMID:25741868 PMID:28492532 PMID:29068549 More...
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Ensembl chr 4:5,635,151...5,782,657
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FGFR3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: Short ribs |
ClinVar |
PMID:1908846 PMID:7773297 PMID:8640234 PMID:8858131 PMID:9438390 PMID:9677066 PMID:10073901 PMID:10471491 PMID:10696568 PMID:11241532 PMID:11529856 PMID:12833394 PMID:15772091 PMID:16841094 PMID:18642369 PMID:20301540 PMID:20420824 PMID:22045636 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29593476 PMID:31299979 PMID:36135330 PMID:36474027 More...
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NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692
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FLVCR1 |
FLVCR choline and heme transporter 1 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
ClinVar |
PMID:27666822 |
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NCBI chr 1:188,425,697...188,466,721
Ensembl chr 1:193,284,158...193,320,554
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FUZ |
fuzzy planar cell polarity protein |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:29068549 |
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NCBI chr19:46,819,833...46,826,235
Ensembl chr19:55,736,325...55,742,589
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GALNT3 |
polypeptide N-acetylgalactosaminyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr2B:53,014,933...53,066,330
Ensembl chr2B:170,335,216...170,539,231
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GRK2 |
G protein-coupled receptor kinase 2 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:33200460 |
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NCBI chr11:62,624,647...62,644,846
Ensembl chr11:65,939,164...65,959,066
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IFT140 |
intraflagellar transport 140 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22503633 PMID:23418020 PMID:24009529 PMID:25741868 PMID:26216056 PMID:28288023 PMID:28492532 PMID:28559085 PMID:28724397 PMID:29068549 PMID:29688594 PMID:30773290 PMID:32483926 PMID:34429528 PMID:34890546 More...
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NCBI chr16:130,150...232,369
Ensembl chr16:1,566,824...1,658,884
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IFT172 |
intraflagellar transport 172 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr2A:27,448,139...27,492,302
Ensembl chr2A:27,536,534...27,580,406
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IFT43 |
intraflagellar transport 43 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
ClinVar |
PMID:21378380 PMID:25741868 PMID:28400947 PMID:28492532 PMID:29068549 |
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NCBI chr14:56,544,333...56,642,312
Ensembl chr14:75,387,742...75,485,506
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IFT52 |
intraflagellar transport 52 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
ClinVar |
PMID:27466190 PMID:28492532 PMID:29068549 |
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NCBI chr20:39,929,523...39,986,072
Ensembl chr20:41,023,517...41,080,500
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IFT74 |
intraflagellar transport 74 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:29068549 |
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NCBI chr 9:26,802,459...26,912,292
Ensembl chr 9:27,415,565...27,514,558
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IFT80 |
intraflagellar transport 80 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome |
ClinVar |
PMID:9536098 PMID:11727201 PMID:12673792 PMID:16199547 PMID:16385454 PMID:17468754 PMID:17576681 PMID:19610081 PMID:19648123 PMID:19763152 PMID:20301601 PMID:20307669 PMID:21227999 PMID:22406018 PMID:23339108 PMID:25741868 PMID:28492532 PMID:29068549 PMID:29658880 PMID:29923190 PMID:30266093 PMID:30767363 PMID:33957996 More...
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NCBI chr 3:157,279,076...157,421,478
Ensembl chr 3:165,329,056...165,454,905
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IFT81 |
intraflagellar transport 81 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:25741868 PMID:26275418 PMID:27666822 PMID:28492532 |
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NCBI chr12:107,659,663...107,794,066
Ensembl chr12:111,096,722...111,186,217
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IFT88 |
intraflagellar transport 88 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:29068549 |
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NCBI chr13:1,893,102...2,017,771
Ensembl chr13:20,206,471...20,331,204
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INTU |
inturned planar cell polarity protein |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
ClinVar |
PMID:25741868 PMID:27158779 PMID:29068549 |
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NCBI chr 4:119,793,245...119,890,949
Ensembl chr 4:131,109,733...131,186,590
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KIAA0586 |
KIAA0586 ortholog |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr14:39,019,518...39,139,460
Ensembl chr14:57,288,938...57,405,726
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KIAA0753 |
KIAA0753 ortholog |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29138412 PMID:31816441 PMID:34529350 |
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NCBI chr17:6,615,903...6,678,233
Ensembl chr17:6,603,983...6,662,083
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LBR |
lamin B receptor |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28600779 PMID:29068549 |
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NCBI chr 1:200,865,602...200,892,199
Ensembl chr 1:205,870,394...205,893,032
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MATN3 |
matrilin 3 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr2A:19,979,188...20,000,733
Ensembl chr2A:20,095,710...20,116,015
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MMP1 |
matrix metallopeptidase 1 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104
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MMP10 |
matrix metallopeptidase 10 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr11:97,710,819...97,721,263
Ensembl chr11:101,201,665...101,212,103
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MMP12 |
matrix metallopeptidase 12 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr11:97,809,644...97,822,063
Ensembl chr11:101,294,475...101,306,762
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MMP13 |
matrix metallopeptidase 13 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr11:97,890,811...97,902,778
Ensembl chr11:101,377,001...101,387,679
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MMP20 |
matrix metallopeptidase 20 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr11:97,518,573...97,566,881
Ensembl chr11:101,011,084...101,059,322
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MMP27 |
matrix metallopeptidase 27 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr11:97,630,268...97,644,959
Ensembl chr11:101,123,253...101,137,315
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MMP3 |
matrix metallopeptidase 3 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354
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MMP7 |
matrix metallopeptidase 7 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr11:97,467,037...97,477,305
Ensembl chr11:100,960,032...100,971,099
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MMP8 |
matrix metallopeptidase 8 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr11:97,650,408...97,663,731
Ensembl chr11:101,143,268...101,156,736
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NEK1 |
NIMA related kinase 1 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
ClinVar |
PMID:22499340 PMID:23757202 PMID:25741868 PMID:28492532 PMID:29068549 |
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NCBI chr 4:161,618,181...161,830,332
Ensembl chr 4:173,690,074...173,902,100
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RAB34 |
RAB34, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Jeune's syndrome |
ClinVar |
PMID:25741868 PMID:37619988 |
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NCBI chr17:28,057,077...28,061,234
Ensembl chr17:28,562,118...28,566,242
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SCN1A |
sodium voltage-gated channel alpha subunit 1 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr2B:53,258,614...53,348,131
Ensembl chr2B:170,736,651...170,822,014
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SCN2A |
sodium voltage-gated channel alpha subunit 2 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr2B:52,514,918...52,667,225
Ensembl chr2B:169,928,323...170,027,509
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SCN3A |
sodium voltage-gated channel alpha subunit 3 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr2B:52,363,020...52,479,818
Ensembl chr2B:169,722,134...169,838,590
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SCN9A |
sodium voltage-gated channel alpha subunit 9 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr2B:53,468,290...53,643,747
Ensembl chr2B:170,944,974...171,054,013
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SLTM |
SAFB like transcription modulator |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:27666822 |
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NCBI chr15:37,848,629...37,903,221
Ensembl chr15:56,158,460...56,211,695
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SMARCAD1 |
SNF2 related chromatin remodeling ATPase with DExD box 1 |
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ISO |
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MouseDO |
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NCBI chr 4:86,567,722...86,651,527
Ensembl chr 4:97,240,614...97,324,366
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SPTAN1 |
spectrin alpha, non-erythrocytic 1 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:24183451 PMID:28492532 PMID:29068549 |
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NCBI chr 9:99,674,819...99,755,973
Ensembl chr 9:128,341,739...128,422,971
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TMEM123 |
transmembrane protein 123 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr11:97,342,669...97,399,342
Ensembl chr11:100,835,988...100,892,618
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TRAF3IP1 |
TRAF3 interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:16199547 PMID:21945076 PMID:26487268 PMID:28492532 PMID:29068549 |
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NCBI chr2B:125,558,537...125,637,733
Ensembl chr2B:244,405,992...244,481,785
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TRPC6 |
transient receptor potential cation channel subfamily C member 6 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr11:96,414,498...96,551,670
Ensembl chr11:99,919,410...100,050,685
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TTC21B |
tetratricopeptide repeat domain 21B |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome | ClinVar Annotator: match by term: Thoracic pelvic phalangeal dystrophy |
ClinVar |
PMID:9536098 PMID:15133511 PMID:16199547 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:17576681 PMID:18327258 PMID:18414213 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:22773737 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24033266 PMID:24650168 PMID:24876116 PMID:25492405 PMID:25640679 PMID:25741868 PMID:25741905 PMID:26068938 PMID:26294094 PMID:26489029 PMID:26940125 PMID:27491411 PMID:28124483 PMID:28492532 PMID:29068549 PMID:29127259 PMID:30655312 PMID:32173348 PMID:33323469 PMID:33532864 PMID:33547761 PMID:33875766 PMID:36263627 More...
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NCBI chr2B:53,140,199...53,220,535
Ensembl chr2B:170,616,444...170,699,471
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WDR19 |
WD repeat domain 19 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
ClinVar |
PMID:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24504730 PMID:25726036 PMID:25741868 PMID:26275793 PMID:26489029 PMID:27241786 PMID:28492532 PMID:28973083 PMID:29068549 PMID:31216405 PMID:33875766 More...
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NCBI chr 4:33,511,283...33,616,946
Ensembl chr 4:39,365,276...39,462,903
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WDR35 |
WD repeat domain 35 |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome |
ClinVar |
PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:27158779 PMID:28332779 PMID:28400947 PMID:28492532 PMID:29068549 More...
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NCBI chr2A:19,896,498...19,977,295
Ensembl chr2A:20,014,127...20,093,810
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YAP1 |
Yes1 associated transcriptional regulator |
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ISO |
ClinVar Annotator: match by term: Jeune thoracic dystrophy |
ClinVar |
PMID:23339108 PMID:24781753 PMID:28492532 PMID:31413057 PMID:32753734 |
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NCBI chr11:97,061,367...97,186,961
Ensembl chr11:100,552,424...100,681,301
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ABCG5 |
ATP binding cassette subfamily G member 5 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 |
ClinVar |
PMID:26077881 |
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NCBI chr2A:43,896,188...43,922,756
Ensembl chr2A:44,745,183...44,771,012
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CSRNP3 |
cysteine and serine rich nuclear protein 3 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr2B:52,744,717...52,962,741
Ensembl chr2B:170,122,687...170,311,348
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DYNC2H1 |
dynein cytoplasmic 2 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 | ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:26874042 PMID:28492532 PMID:29068549 PMID:34740920 More...
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NCBI chr11:98,051,788...98,425,676
Ensembl chr11:101,536,471...101,909,194
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DYNC2I1 |
dynein 2 intermediate chain 1 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29068549 |
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Ensembl chr 7:162,140,534...162,218,224
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DYNC2LI1 |
dynein cytoplasmic 2 light intermediate chain 1 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:26077881 PMID:26130459 PMID:28492532 PMID:32815859 More...
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NCBI chr2A:43,858,368...43,912,262
Ensembl chr2A:44,706,777...44,742,724
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EVC2 |
EvC ciliary complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:17024374 PMID:19251731 PMID:19810119 PMID:19876929 PMID:28492532 PMID:29068549 More...
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Ensembl chr 4:5,635,151...5,782,657
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GALNT3 |
polypeptide N-acetylgalactosaminyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr2B:53,014,933...53,066,330
Ensembl chr2B:170,335,216...170,539,231
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IFT140 |
intraflagellar transport 140 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly |
ClinVar |
PMID:9536098 PMID:17576681 PMID:22503633 PMID:23418020 PMID:24009529 PMID:25741868 PMID:26216056 PMID:28288023 PMID:28492532 PMID:28559085 PMID:28724397 PMID:29068549 PMID:29688594 PMID:30773290 More...
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NCBI chr16:130,150...232,369
Ensembl chr16:1,566,824...1,658,884
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IFT172 |
intraflagellar transport 172 |
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ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr2A:27,448,139...27,492,302
Ensembl chr2A:27,536,534...27,580,406
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G |
IFT80 |
intraflagellar transport 80 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:9536098 PMID:17576681 PMID:19648123 PMID:25741868 PMID:28492532 PMID:29068549 PMID:30266093 More...
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NCBI chr 3:157,279,076...157,421,478
Ensembl chr 3:165,329,056...165,454,905
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LBR |
lamin B receptor |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28600779 PMID:29068549 |
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NCBI chr 1:200,865,602...200,892,199
Ensembl chr 1:205,870,394...205,893,032
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NEK1 |
NIMA related kinase 1 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:161,618,181...161,830,332
Ensembl chr 4:173,690,074...173,902,100
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RAB34 |
RAB34, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:25741868 PMID:37619988 |
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NCBI chr17:28,057,077...28,061,234
Ensembl chr17:28,562,118...28,566,242
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SCN1A |
sodium voltage-gated channel alpha subunit 1 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr2B:53,258,614...53,348,131
Ensembl chr2B:170,736,651...170,822,014
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SCN2A |
sodium voltage-gated channel alpha subunit 2 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr2B:52,514,918...52,667,225
Ensembl chr2B:169,928,323...170,027,509
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SCN3A |
sodium voltage-gated channel alpha subunit 3 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr2B:52,363,020...52,479,818
Ensembl chr2B:169,722,134...169,838,590
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G |
SCN9A |
sodium voltage-gated channel alpha subunit 9 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr2B:53,468,290...53,643,747
Ensembl chr2B:170,944,974...171,054,013
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TTC21B |
tetratricopeptide repeat domain 21B |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:25741868 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr2B:53,140,199...53,220,535
Ensembl chr2B:170,616,444...170,699,471
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WDR19 |
WD repeat domain 19 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:22019273 PMID:23559409 PMID:23683095 PMID:25741868 PMID:26275793 PMID:27241786 PMID:28492532 PMID:28973083 PMID:29068549 PMID:31216405 More...
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NCBI chr 4:33,511,283...33,616,946
Ensembl chr 4:39,365,276...39,462,903
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IFT80 |
intraflagellar transport 80 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17468754 PMID:17576681 PMID:19610081 PMID:19648123 PMID:21227999 PMID:23339108 PMID:25741868 PMID:28492532 PMID:29068549 PMID:30266093 PMID:30767363 More...
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NCBI chr 3:157,279,076...157,421,478
Ensembl chr 3:165,329,056...165,454,905
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BAG3 |
BAG cochaperone 3 |
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ISO |
ClinVar Annotator: match by term: Short-rib polydactyly syndrome type I |
ClinVar |
PMID:21361913 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr10:116,221,747...116,248,692
Ensembl chr10:119,643,963...119,665,964
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DYNC1H1 |
dynein cytoplasmic 1 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr14:82,584,876...82,670,750
Ensembl chr14:102,406,993...102,489,475
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DYNC2H1 |
dynein cytoplasmic 2 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 | ClinVar Annotator: match by term: DYNC2H1-related disorder | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly |
OMIM ClinVar |
PMID:6938784 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19361615 PMID:19442771 PMID:21211617 PMID:22499340 PMID:23339108 PMID:23456818 PMID:24033266 PMID:24123776 PMID:24183451 PMID:24759409 PMID:25326635 PMID:25356970 PMID:25410398 PMID:25492405 PMID:25741868 PMID:25741887 PMID:25741891 PMID:26489029 PMID:26826164 PMID:26874042 PMID:26938784 PMID:27353043 PMID:27925158 PMID:28492532 PMID:28518170 PMID:28832562 PMID:28973083 PMID:29068549 PMID:29453417 PMID:29947050 PMID:30190612 PMID:30655312 PMID:30773290 PMID:31415973 PMID:31730820 PMID:31935347 PMID:31943948 PMID:32494556 PMID:32753734 PMID:33532864 PMID:33694158 PMID:33755199 PMID:33875766 PMID:34040173 PMID:34529350 PMID:34627339 PMID:34740920 PMID:34788402 PMID:34853893 PMID:34958143 PMID:35587316 PMID:35627109 PMID:35929941 PMID:36352425 PMID:36599940 PMID:36797717 PMID:37091781 More...
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NCBI chr11:98,051,788...98,425,676
Ensembl chr11:101,536,471...101,909,194
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DYNC2I1 |
dynein 2 intermediate chain 1 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29068549 |
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Ensembl chr 7:162,140,534...162,218,224
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DYNC2I2 |
dynein 2 intermediate chain 2 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
PMID:29068549 |
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NCBI chr 9:99,755,972...99,780,279
Ensembl chr 9:128,423,053...128,447,387
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DYNLT2B |
dynein light chain Tctex-type 2B |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:193,636,238...193,665,254
Ensembl chr 3:203,580,040...203,607,189
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FAM98C |
family with sequence similarity 98 member C |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
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NCBI chr19:35,497,144...35,503,168
Ensembl chr19:44,068,957...44,074,586
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G |
IFT80 |
intraflagellar transport 80 |
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ISO |
OMIM:613091 |
MouseDO |
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NCBI chr 3:157,279,076...157,421,478
Ensembl chr 3:165,329,056...165,454,905
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G |
KIF24 |
kinesin family member 24 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
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NCBI chr 9:34,088,760...34,165,306
Ensembl chr 9:34,898,729...34,973,978
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G |
NEK1 |
NIMA related kinase 1 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly |
ClinVar |
PMID:21211617 PMID:25741868 |
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NCBI chr 4:161,618,181...161,830,332
Ensembl chr 4:173,690,074...173,902,100
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G |
TMEM256 |
transmembrane protein 256 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 |
ClinVar |
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NCBI chr17:7,437,147...7,438,323
Ensembl chr17:7,423,655...7,424,798
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G |
TTC21B |
tetratricopeptide repeat domain 21B |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 4 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18327258 PMID:18414213 PMID:21068128 PMID:21258341 PMID:22773737 PMID:23559409 PMID:24033266 PMID:24876116 PMID:25492405 PMID:25741868 PMID:26294094 PMID:26940125 PMID:27491411 PMID:28492532 PMID:29068549 PMID:29127259 PMID:30655312 PMID:33532864 PMID:36263627 More...
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NCBI chr2B:53,140,199...53,220,535
Ensembl chr2B:170,616,444...170,699,471
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WDR19 |
WD repeat domain 19 |
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ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 5 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19430947 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24027799 PMID:24027800 PMID:24504730 PMID:25726036 PMID:25741868 PMID:26260382 PMID:26275793 PMID:26355662 PMID:26489029 PMID:27241786 PMID:27596865 PMID:28492532 PMID:28621010 PMID:28973083 PMID:29068549 PMID:29121203 PMID:29801666 PMID:30266093 PMID:30586318 PMID:31054281 PMID:31216405 PMID:31725169 PMID:31837199 PMID:32037395 PMID:32165824 PMID:32483926 PMID:33002628 PMID:33517396 PMID:33532864 PMID:33875766 PMID:34295353 PMID:34529350 PMID:34906470 PMID:36909829 More...
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NCBI chr 4:33,511,283...33,616,946
Ensembl chr 4:39,365,276...39,462,903
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SLC26A2 |
solute carrier family 26 member 2 |
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ISO |
ClinVar Annotator: match by term: Atelosteogenesis |
ClinVar |
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NCBI chr 5:145,385,433...145,412,180
Ensembl chr 5:151,391,842...151,412,676
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FLNB |
filamin B |
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ISO |
ClinVar Annotator: match by term: Atelosteogenesis type I | ClinVar Annotator: match by term: Spondylohumerofemoral hypoplasia |
OMIM ClinVar |
PMID:14991055 PMID:16752402 PMID:20301736 PMID:22190451 PMID:24624349 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:57,943,263...58,107,115
Ensembl chr 3:59,359,234...59,521,989
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G |
SLC26A2 |
solute carrier family 26 member 2 |
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ISO |
ClinVar Annotator: match by term: Atelosteogenesis type 2 | ClinVar Annotator: match by term: Atelosteogenesis type II | ClinVar Annotator: match by term: De la Chapelle dysplasia | ClinVar Annotator: match by term: NEONATAL OSSEOUS DYSPLASIA I | ClinVar Annotator: match by term: Neonatal osseous dysplasia 1 |
OMIM ClinVar |
PMID:4644462 PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 PMID:8702127 PMID:8723100 PMID:8931695 PMID:9342225 PMID:10465113 PMID:10482955 PMID:11241838 PMID:11303514 PMID:11448940 PMID:11558903 PMID:11565064 PMID:11727031 PMID:12525546 PMID:12966518 PMID:15294877 PMID:15316973 PMID:15720248 PMID:16642506 PMID:17393463 PMID:18708426 PMID:18925670 PMID:19344236 PMID:20219950 PMID:20301483 PMID:20301493 PMID:20301524 PMID:20525296 PMID:20981092 PMID:21077202 PMID:21077204 PMID:21155763 PMID:21228398 PMID:21922596 PMID:22052783 PMID:23840040 PMID:24033266 PMID:24598000 PMID:25741868 PMID:27065010 PMID:28492532 PMID:29024831 PMID:30423444 PMID:31880411 PMID:34064542 More...
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NCBI chr 5:145,385,433...145,412,180
Ensembl chr 5:151,391,842...151,412,676
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G |
FLNB |
filamin B |
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ISO |
ClinVar Annotator: match by term: Atelosteogenesis type 3 | ClinVar Annotator: match by term: Atelosteogenesis type III |
OMIM ClinVar |
PMID:9536098 PMID:14991055 PMID:17576681 PMID:20301736 PMID:22190451 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:57,943,263...58,107,115
Ensembl chr 3:59,359,234...59,521,989
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G |
SOST |
sclerostin |
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ISO |
ClinVar Annotator: match by term: Craniodiaphyseal dysplasia, autosomal dominant |
OMIM ClinVar |
PMID:17853455 PMID:21221996 PMID:25741868 |
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NCBI chr17:13,639,088...13,644,152
Ensembl chr17:13,804,374...13,809,432
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ANKH |
ANKH inorganic pyrophosphate transport regulator |
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ISO |
ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant |
OMIM ClinVar |
PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31130284 More...
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NCBI chr 5:15,014,019...15,175,467
Ensembl chr 5:14,855,914...14,917,729
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OTULIN |
OTU deubiquitinase with linear linkage specificity |
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ISO |
ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant |
ClinVar |
PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 PMID:25741868 PMID:28492532 PMID:31130284 More...
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NCBI chr 5:14,969,432...15,017,666
Ensembl chr 5:14,809,539...14,837,750
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G |
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 1:15,180,858...15,194,757
Ensembl chr 1:16,174,570...16,188,166
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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 |
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...
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NCBI chr11:63,396,511...63,534,471
Ensembl chr11:66,735,246...66,839,817
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CLCN7 |
chloride voltage-gated channel 7 |
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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: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 chr16:64,599...95,016
Ensembl chr16:1,498,432...1,519,951
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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 chr17:11,836,726...11,891,614
Ensembl chr17:12,011,604...12,063,912
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GJA1 |
gap junction protein alpha 1 |
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ISO |
ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive |
OMIM ClinVar |
PMID:11146471 PMID:23951358 PMID:25741868 PMID:28492532 |
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NCBI chr 6:119,213,513...119,227,617
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LTBP4 |
latent transforming growth factor beta binding protein 4 |
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ISO |
ClinVar Annotator: match by term: Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities | ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type IC |
OMIM ClinVar |
PMID:16199547 PMID:19836010 PMID:22829427 PMID:24033266 PMID:25741868 PMID:25882708 PMID:28492532 PMID:31115174 PMID:35972031 More...
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NCBI chr19:37,637,509...37,674,791
Ensembl chr19:46,144,485...46,181,636
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G |
CCDC154 |
coiled-coil domain containing 154 |
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ISO |
OMIM:259700 |
MouseDO |
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NCBI chr16:54,158...64,522
Ensembl chr16:1,488,750...1,498,293
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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 chr17:11,836,726...11,891,614
Ensembl chr17:12,011,604...12,063,912
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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: 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:17400532 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...
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NCBI chr11:63,120,913...63,132,831
Ensembl chr11:66,429,435...66,441,327
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TNFSF11 |
TNF superfamily member 11 |
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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...
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NCBI chr13:23,750,835...23,784,740
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CA2 |
carbonic anhydrase 2 |
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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:28492532 More...
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NCBI chr 8:81,991,037...82,009,010
Ensembl chr 8:83,597,440...83,632,580
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G |
CLCN7 |
chloride voltage-gated channel 7 |
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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: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 chr16:64,599...95,016
Ensembl chr16:1,498,432...1,519,951
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G |
OSTM1 |
osteoclastogenesis associated transmembrane protein 1 |
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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 PMID:34753502 More...
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NCBI chr 6:105,842,261...105,874,429
Ensembl chr 6:109,705,519...109,738,691
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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 6 |
OMIM ClinVar |
PMID:17404618 PMID:25741868 |
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NCBI chr17:11,836,726...11,891,614
Ensembl chr17:12,011,604...12,063,912
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G |
TNFRSF11A |
TNF receptor superfamily member 11a |
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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...
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NCBI chr18:55,695,394...55,761,307
Ensembl chr18:59,034,770...59,075,044
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G |
SNX10 |
sorting nexin 10 |
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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...
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NCBI chr 7:26,935,357...27,017,461
Ensembl chr 7:26,537,189...26,620,720
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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 7:142,646,413...142,663,376
Ensembl chr 7:154,799,256...154,815,919
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G |
CCN6 |
cellular communication network factor 6 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive spondyloepiphyseal dysplasia tarda |
ClinVar |
PMID:10471507 PMID:22791401 PMID:25741868 PMID:28492532 PMID:29258992 |
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NCBI chr 6:109,863,877...109,880,480
Ensembl chr 6:113,939,975...113,955,427
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G |
CFAP410 |
cilia and flagella associated protein 410 |
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ISO |
ClinVar Annotator: match by term: Axial SMD | ClinVar Annotator: match by term: Axial spondylometaphyseal dysplasia |
OMIM ClinVar |
PMID:11702989 PMID:20503334 PMID:21910225 PMID:23105016 PMID:25741868 PMID:26167768 PMID:26974433 PMID:27548899 PMID:27596865 PMID:28041643 PMID:28422394 PMID:28492532 PMID:33307614 PMID:34906470 More...
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NCBI chr21:30,585,802...30,595,981
Ensembl chr21:43,881,219...43,889,891
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G |
DYNC2H1 |
dynein cytoplasmic 2 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome |
ClinVar |
PMID:25741868 PMID:26826164 PMID:28492532 PMID:29068549 |
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NCBI chr11:98,051,788...98,425,676
Ensembl chr11:101,536,471...101,909,194
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G |
EVC2 |
EvC ciliary complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome |
ClinVar |
PMID:17024374 PMID:19810119 PMID:19876929 PMID:25741868 PMID:28492532 PMID:29068549 More...
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Ensembl chr 4:5,635,151...5,782,657
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G |
IFT80 |
intraflagellar transport 80 |
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ISO |
ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome |
ClinVar |
PMID:28492532 PMID:29068549 |
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NCBI chr 3:157,279,076...157,421,478
Ensembl chr 3:165,329,056...165,454,905
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G |
NEK1 |
NIMA related kinase 1 |
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ISO |
ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome |
ClinVar |
PMID:25741868 PMID:29068549 |
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NCBI chr 4:161,618,181...161,830,332
Ensembl chr 4:173,690,074...173,902,100
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G |
TTC21B |
tetratricopeptide repeat domain 21B |
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ISO |
ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome |
ClinVar |
PMID:18327258 PMID:21068128 PMID:21258341 PMID:23559409 PMID:24876116 PMID:25492405 PMID:25741868 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr2B:53,140,199...53,220,535
Ensembl chr2B:170,616,444...170,699,471
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G |
WDR19 |
WD repeat domain 19 |
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ISO |
ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome |
ClinVar |
PMID:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:26275793 PMID:27241786 PMID:28492532 PMID:29068549 More...
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NCBI chr 4:33,511,283...33,616,946
Ensembl chr 4:39,365,276...39,462,903
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G |
ANKRD37 |
ankyrin repeat domain 37 |
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ISO |
ClinVar Annotator: match by term: Hip dysplasia, Beukes type |
ClinVar |
PMID:25741868 |
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NCBI chr 4:177,559,012...177,563,343
Ensembl chr 4:189,776,184...189,780,053
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G |
CFAP96 |
cilia and flagella associated protein 96 |
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ISO |
ClinVar Annotator: match by term: Hip dysplasia, Beukes type | ClinVar Annotator: match by term: Osteoarthropathy, premature degenerative, of hip |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33473208 |
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NCBI chr 4:177,589,308...177,612,834
Ensembl chr 4:189,805,849...189,828,919
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G |
UFSP2 |
UFM1 specific peptidase 2 |
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ISO |
ClinVar Annotator: match by term: Hip dysplasia, Beukes type | ClinVar Annotator: match by term: Osteoarthropathy, premature degenerative, of hip |
OMIM ClinVar |
PMID:2389793 PMID:21228277 PMID:25741868 PMID:26428751 PMID:28492532 PMID:28892125 PMID:33473208 More...
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NCBI chr 4:177,562,642...177,589,312
Ensembl chr 4:189,779,242...189,805,572
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G |
FLNB |
filamin B |
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ISO |
ClinVar Annotator: match by term: Boomerang dysplasia | ClinVar Annotator: match by term: Boomerang-like skeletal dysplasia |
OMIM ClinVar |
PMID:12955767 PMID:14991055 PMID:17510210 PMID:25741868 PMID:28492532 |
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NCBI chr 3:57,943,263...58,107,115
Ensembl chr 3:59,359,234...59,521,989
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G |
LTBP3 |
latent transforming growth factor beta binding protein 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25669657 |
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NCBI chr11:60,897,897...60,917,690
Ensembl chr11:64,233,504...64,252,802
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G |
PAPSS2 |
3'-phosphoadenosine 5'-phosphosulfate synthase 2 |
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ISO |
ClinVar Annotator: match by term: Brachyolmia |
ClinVar |
PMID:22791835 PMID:23633440 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr10:84,383,936...84,471,745
Ensembl chr10:87,890,631...87,977,839
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G |
TRPV4 |
transient receptor potential cation channel subfamily V member 4 |
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ISO |
ClinVar Annotator: match by term: Brachyolmia | ClinVar Annotator: match by term: Brachyrachia |
ClinVar |
PMID:4056805 PMID:8179305 PMID:18587396 PMID:19661060 PMID:19666518 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20425821 PMID:20460441 PMID:20503319 PMID:20577006 PMID:21288981 PMID:21336783 PMID:21454511 PMID:21573172 PMID:21964574 PMID:22419508 PMID:22689196 PMID:22702953 PMID:22851605 PMID:24575025 PMID:24577120 PMID:24677493 PMID:24789864 PMID:24963089 PMID:25256292 PMID:25326637 PMID:25703509 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26170305 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27751652 PMID:28251916 PMID:28492532 PMID:28898540 PMID:29858556 PMID:30230566 PMID:30373780 PMID:31475037 PMID:32376792 PMID:34529350 PMID:37091313 PMID:39033378 More...
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NCBI chr12:107,359,005...107,409,359
Ensembl chr12:110,754,238...110,786,182
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TRPV4 |
transient receptor potential cation channel subfamily V member 4 |
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ISO |
ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia Maroteaux type |
ClinVar |
PMID:4056805 PMID:6628444 PMID:8179305 PMID:12884428 PMID:14755468 PMID:17879966 PMID:19232556 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20425821 PMID:20460441 PMID:20503319 PMID:20577006 PMID:21288981 PMID:21336783 PMID:21454511 PMID:21573172 PMID:21658220 PMID:22702953 PMID:24575025 PMID:24789864 PMID:24963089 PMID:25256292 PMID:25326637 PMID:25741868 PMID:25802885 PMID:25900305 PMID:26110311 PMID:26170305 PMID:26249260 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27751652 PMID:28251916 PMID:28492532 PMID:29858556 PMID:30230566 PMID:30373780 PMID:34529350 PMID:39033378 More...
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NCBI chr12:107,359,005...107,409,359
Ensembl chr12:110,754,238...110,786,182
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TRPV4 |
transient receptor potential cation channel subfamily V member 4 |
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ISO |
ClinVar Annotator: match by term: Brachyolmia Type 3 | ClinVar Annotator: match by term: Brachyolmia autosomal dominant |
OMIM ClinVar |
PMID:4056805 PMID:8179305 PMID:18587396 PMID:19661060 PMID:19666518 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20425821 PMID:20460441 PMID:20503319 PMID:20577006 PMID:21288981 PMID:21336783 PMID:21454511 PMID:21573172 PMID:21964574 PMID:22419508 PMID:22689196 PMID:22702953 PMID:22851605 PMID:24575025 PMID:24577120 PMID:24677493 PMID:24789864 PMID:24963089 PMID:25256292 PMID:25326637 PMID:25703509 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26170305 PMID:26392352 PMID:26467025 PMID:26948711 PMID:27751652 PMID:28251916 PMID:28492532 PMID:28898540 PMID:29858556 PMID:30230566 PMID:30373780 PMID:31475037 PMID:32376792 PMID:34529350 PMID:37091313 PMID:39033378 More...
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NCBI chr12:107,359,005...107,409,359
Ensembl chr12:110,754,238...110,786,182
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LTBP3 |
latent transforming growth factor beta binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome | ClinVar Annotator: match by term: Dental anomalies and short stature | ClinVar Annotator: match by term: Platyspondyly with amelogenesis imperfecta | ClinVar Annotator: match by term: Tooth agenesis, selective, 6 |
OMIM ClinVar |
PMID:9536098 PMID:11790802 PMID:16199547 PMID:17576681 PMID:19213025 PMID:19344874 PMID:25640679 PMID:25669657 PMID:25741868 PMID:25899461 PMID:28492532 PMID:29625025 PMID:30887145 PMID:33082559 PMID:34906192 PMID:35998423 More...
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NCBI chr11:60,897,897...60,917,690
Ensembl chr11:64,233,504...64,252,802
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SCYL1 |
SCY1 like pseudokinase 1 |
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ISO |
ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:60,884,136...60,897,790
Ensembl chr11:64,218,464...64,233,413
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KIF15 |
kinesin family member 15 |
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ISO |
ClinVar Annotator: match by term: Braddock-carey syndrome 2 |
OMIM ClinVar |
PMID:25741868 PMID:28150392 |
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NCBI chr 3:44,656,791...44,774,655
Ensembl chr 3:45,713,962...45,809,700
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CSF1R |
colony stimulating factor 1 receptor |
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ISO |
ClinVar Annotator: match by term: Brain abnormalities, neurodegeneration, and dysosteosclerosis |
OMIM ClinVar |
PMID:8614507 PMID:22503135 PMID:23408870 PMID:24120500 PMID:24145216 PMID:24336230 PMID:25012610 PMID:25563800 PMID:25741868 PMID:28492532 PMID:30982608 PMID:30982609 PMID:32055602 PMID:36943150 More...
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NCBI chr 5:145,478,725...145,537,858
Ensembl chr 5:151,483,572...151,517,415
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RYR1 |
ryanodine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Bronchomalacia |
ClinVar |
PMID:16835904 PMID:24033266 PMID:25741868 |
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NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327
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FKBP10 |
FKBP prolyl isomerase 10 |
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ISO |
ClinVar Annotator: match by term: Bruck syndrome |
ClinVar |
PMID:16199547 PMID:22689593 PMID:22949511 PMID:25741868 PMID:28492532 PMID:32770541 More...
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NCBI chr17:15,490,667...15,500,894
Ensembl chr17:15,709,629...15,718,953
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PLOD2 |
procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 |
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ISO |
ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA WITH CONGENITAL JOINT CONTRACTURES |
ClinVar |
PMID:25086671 PMID:25741868 PMID:28492532 PMID:37076969 |
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NCBI chr 3:143,091,833...143,181,831
Ensembl chr 3:150,675,424...150,764,939
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COL1A2 |
collagen type I alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Bruck syndrome 1 |
ClinVar |
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NCBI chr 7:86,344,657...86,381,282
Ensembl chr 7:99,935,185...99,971,803
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FKBP10 |
FKBP prolyl isomerase 10 |
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ISO |
ClinVar Annotator: match by term: Arthrogryposis-like disorder | ClinVar Annotator: match by term: Bruck syndrome 1 |
OMIM ClinVar |
PMID:9129737 PMID:9481655 PMID:9927692 PMID:20362275 PMID:20696291 PMID:20839288 PMID:21567934 PMID:22689593 PMID:22949511 PMID:23712425 PMID:25741868 PMID:26538303 PMID:27509835 PMID:27717089 PMID:27762305 PMID:28492532 PMID:29620724 PMID:30715774 More...
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NCBI chr17:15,490,667...15,500,894
Ensembl chr17:15,709,629...15,718,953
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PLOD2 |
procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 |
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ISO |
ClinVar Annotator: match by term: Bruck syndrome 2 | ClinVar Annotator: match by term: PLOD2-related condition |
OMIM ClinVar |
PMID:9927692 PMID:12881513 PMID:15523624 PMID:22689593 PMID:25086671 PMID:25238597 PMID:25741868 PMID:28116328 PMID:28492532 PMID:29177700 PMID:29178448 PMID:31472299 PMID:31785789 PMID:32655337 PMID:33664768 PMID:33778323 PMID:35278031 PMID:37076969 More...
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NCBI chr 3:143,091,833...143,181,831
Ensembl chr 3:150,675,424...150,764,939
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ELN |
elastin |
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ISO |
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RGD |
PMID:1629625 |
RGD:9585749 |
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LEMD3 |
LEM domain containing 3 |
no_association |
ISO |
ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata | ClinVar Annotator: match by term: Dermatofibrosis lenticularis disseminata, isolated | ClinVar Annotator: match by term: LEMD3-related condition | ClinVar Annotator: match by term: Melorheostosis with osteopoikilosis | ClinVar Annotator: match by term: OSTEOPOIKILOSIS WITH OR WITHOUT MELORHEOSTOSIS |
OMIM ClinVar RGD |
PMID:9295073 PMID:12749062 PMID:15489854 PMID:16470551 PMID:17087626 PMID:17223882 PMID:19438932 PMID:20083694 PMID:25741868 PMID:27382493 PMID:28434888 PMID:28492532 More...
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RGD:11553842 |
NCBI chr12:23,668,368...23,747,369
Ensembl chr12:24,172,749...24,252,314
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A4GALT |
alpha 1,4-galactosyltransferase (P1PK blood group) |
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ISO |
ClinVar Annotator: match by term: Infantile cortical hyperostosis |
ClinVar |
PMID:20971946 PMID:28492532 |
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NCBI chr22:23,587,378...23,615,467
Ensembl chr22:41,739,062...41,740,123
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COL1A1 |
collagen type I alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Caffey Disease | ClinVar Annotator: match by term: Infantile cortical hyperostosis |
OMIM ClinVar |
PMID:2037280 PMID:2542316 PMID:2794057 PMID:7691343 PMID:7695699 PMID:7942841 PMID:8079666 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:11090261 PMID:11113887 PMID:11317364 PMID:11432962 PMID:12362985 PMID:12590186 PMID:15024692 PMID:15024745 PMID:15241796 PMID:15741671 PMID:15864348 PMID:15931785 PMID:16199547 PMID:16786509 PMID:16879195 PMID:17078022 PMID:17211858 PMID:17309652 PMID:17392686 PMID:17576681 PMID:18028452 PMID:18272325 PMID:18412368 PMID:18553566 PMID:18670065 PMID:18704262 PMID:18996919 PMID:19344236 PMID:19358256 PMID:19491628 PMID:19550437 PMID:20696291 PMID:20981092 PMID:21249479 PMID:21567126 PMID:21594610 PMID:21667357 PMID:21884818 PMID:22206639 PMID:22589248 PMID:22753364 PMID:22855962 PMID:23265383 PMID:23443412 PMID:23587214 PMID:23692737 PMID:24123366 PMID:24147872 PMID:24185511 PMID:24390061 PMID:24668929 PMID:24767406 PMID:25086671 PMID:25146735 PMID:25525159 PMID:25597651 PMID:25741868 PMID:25944380 PMID:25963598 PMID:26177859 PMID:26188975 PMID:26235824 PMID:26467025 PMID:26627451 PMID:26633542 PMID:26712438 PMID:27011056 PMID:27044453 PMID:27060301 PMID:27132807 PMID:27146342 PMID:27484908 PMID:27509835 PMID:27510842 PMID:27519266 PMID:27549894 PMID:27748872 PMID:28102596 PMID:28116328 PMID:28378289 PMID:28492532 PMID:28725987 PMID:28810924 PMID:29499418 PMID:29543232 PMID:29595812 PMID:29695797 PMID:29946973 PMID:30614853 PMID:30665703 PMID:30692697 PMID:30715774 PMID:30886339 PMID:31304589 PMID:31447884 PMID:31584903 PMID:32166892 PMID:33110269 PMID:33228694 PMID:33928192 PMID:33939306 More...
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NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
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SGMS2 |
sphingomyelin synthase 2 |
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ISO |
ClinVar Annotator: match by term: Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia | ClinVar Annotator: match by term: Doughnut lesions of skull, familial |
OMIM ClinVar |
PMID:19839042 PMID:25741868 PMID:28492532 PMID:30779713 PMID:32028018 |
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NCBI chr 4:100,329,642...100,420,398
Ensembl chr 4:110,936,358...110,992,887
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SMC1A |
structural maintenance of chromosomes 1A |
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ISO |
ClinVar Annotator: match by term: CDL |
ClinVar |
PMID:18414213 |
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NCBI chr X:45,576,100...45,637,314
Ensembl chr X:53,697,154...53,745,636
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KCNJ2 |
potassium inwardly rectifying channel subfamily J member 2 |
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ISO |
ClinVar Annotator: match by term: Camptomelic dysplasia |
ClinVar |
PMID:9002675 PMID:10213041 PMID:11371614 PMID:15060123 PMID:25983619 PMID:28492532 More...
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NCBI chr17:64,097,908...64,112,914
Ensembl chr17:69,487,846...69,489,129
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SOX9 |
SRY-box transcription factor 9 |
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ISO |
ClinVar Annotator: match by term: Acampomelic campomelic dysplasia | ClinVar Annotator: match by term: Acampomelic campomelic dysplasia with autosomal sex reversal | ClinVar Annotator: match by term: Campomelic Dysplasia | ClinVar Annotator: match by term: Campomelic dysplasia with autosomal sex reversal | ClinVar Annotator: match by term: Camptomelic dysplasia | ClinVar Annotator: match by term: SOX9-related condition |
OMIM ClinVar |
PMID:1809232 PMID:7485151 PMID:7990924 PMID:8001137 PMID:8894698 PMID:9002675 PMID:9452058 PMID:9536098 PMID:10213041 PMID:10951468 PMID:11076045 PMID:11323423 PMID:11371614 PMID:12783851 PMID:12810722 PMID:15060123 PMID:15300742 PMID:15806394 PMID:16199547 PMID:17576681 PMID:19033726 PMID:19449405 PMID:19921652 PMID:20301724 PMID:20513132 PMID:21218044 PMID:21373255 PMID:21412441 PMID:21614988 PMID:23564514 PMID:24038782 PMID:24451061 PMID:25741868 PMID:25983619 PMID:26078652 PMID:26633542 PMID:26740947 PMID:27899157 PMID:28492532 PMID:29542186 PMID:31389106 PMID:32381727 PMID:32595695 PMID:34092239 More...
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NCBI chr17:66,028,737...66,034,122
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SOX9 |
SRY-box transcription factor 9 |
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ISO |
ClinVar Annotator: match by term: Campomelic dysplasia with autosomal sex reversal |
ClinVar |
PMID:1809232 PMID:7485151 PMID:7990924 PMID:8001137 PMID:8894698 PMID:9002675 PMID:11076045 PMID:11323423 PMID:12810722 PMID:15806394 PMID:20301724 PMID:21412441 PMID:25741868 PMID:26078652 PMID:26633542 PMID:28492532 PMID:31389106 PMID:34092239 More...
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NCBI chr17:66,028,737...66,034,122
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LRP5 |
LDL receptor related protein 5 |
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ISO |
ClinVar Annotator: match by term: Diaphyseal dysplasia |
ClinVar |
PMID:25741868 |
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NCBI chr11:63,396,511...63,534,471
Ensembl chr11:66,735,246...66,839,817
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MITF |
melanocyte inducing transcription factor |
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ISO |
OMIM:131300 | OMIM:606631 |
MouseDO |
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NCBI chr 3:69,674,064...69,902,078
Ensembl chr 3:71,037,665...71,265,445
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TGFB1 |
transforming growth factor beta 1 |
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ISO |
ClinVar Annotator: match by term: Diaphyseal dysplasia |
OMIM ClinVar |
PMID:10973241 PMID:11062463 PMID:11278244 PMID:11810278 PMID:12493741 PMID:12843182 PMID:15103729 PMID:15326622 PMID:16207846 PMID:17206397 PMID:17293864 PMID:18292811 PMID:18424453 PMID:19584867 PMID:19654961 PMID:20308061 PMID:23846138 PMID:24154985 PMID:25099136 PMID:25741868 PMID:28492532 PMID:30034812 PMID:30690794 PMID:30721323 PMID:32154989 PMID:35315241 PMID:35415221 PMID:36339419 More...
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NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
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MYMK |
myomaker, myoblast fusion factor |
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ISO |
ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequences | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE |
ClinVar |
PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30016436 PMID:30065953 More...
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NCBI chr 9:104,638,011...104,668,204
Ensembl chr 9:133,248,761...133,259,631
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MYMK |
myomaker, myoblast fusion factor |
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ISO |
ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 1 |
OMIM ClinVar |
PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30065953 |
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NCBI chr 9:104,638,011...104,668,204
Ensembl chr 9:133,248,761...133,259,631
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MYMX |
myomixer, myoblast fusion factor |
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ISO |
ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2 |
OMIM ClinVar |
PMID:35642635 |
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NCBI chr 6:43,812,606...43,814,252
Ensembl chr 6:45,097,114...45,097,368
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CCDC107 |
coiled-coil domain containing 107 |
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ISO |
ClinVar Annotator: match by term: Cartilage-hair hypoplasia |
ClinVar |
PMID:8034306 PMID:8444246 PMID:9156319 PMID:10026268 PMID:11207361 PMID:11940090 PMID:12107819 PMID:12888988 PMID:14569119 PMID:16097009 PMID:16254002 PMID:16838329 PMID:17701897 PMID:18804272 PMID:25741868 PMID:28094436 PMID:28492532 More...
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NCBI chr 9:35,510,289...35,513,195
Ensembl chr 9:36,312,688...36,315,926
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IARS2 |
isoleucyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia |
OMIM ClinVar |
PMID:8409271 PMID:25130867 PMID:25741868 PMID:28328135 PMID:28492532 PMID:30041933 PMID:30419932 PMID:33327715 PMID:33972171 More...
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NCBI chr 1:195,666,995...195,720,661
Ensembl chr 1:200,703,711...200,757,648
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KYNU |
kynureninase |
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ISO |
ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: MICROGNATHIA DIGITAL SYNDROME |
ClinVar |
PMID:25741868 PMID:31923704 PMID:33942433 |
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NCBI chr2B:16,792,401...16,947,766
Ensembl chr2B:146,975,995...147,132,634
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G |
TGDS |
TDP-glucose 4,6-dehydratase |
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ISO |
ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: Index finger anomaly with Pierre Robin syndrome |
OMIM ClinVar |
PMID:9777339 PMID:18501694 PMID:22887726 PMID:25480037 PMID:25741868 PMID:26366375 PMID:28422407 PMID:28492532 PMID:31769200 PMID:31833187 More...
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NCBI chr13:75,747,686...75,770,010
Ensembl chr13:94,903,511...94,925,637
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ADD1 |
adducin 1 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:2,986,301...3,072,590
Ensembl chr 4:2,920,781...2,975,012
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G |
ATP5ME |
ATP synthase membrane subunit e |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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Ensembl chr 4:705,707...707,172
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G |
CPLX1 |
complexin 1 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:889,037...930,046
Ensembl chr 4:819,833...858,953
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G |
CTBP1 |
C-terminal binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:1,354,806...1,393,244
Ensembl chr 4:1,238,984...1,266,822
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G |
DGKQ |
diacylglycerol kinase theta |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:1,075,133...1,090,081
Ensembl chr 4:994,985...1,007,724
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G |
DOK7 |
docking protein 7 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:3,613,018...3,653,764
Ensembl chr 4:3,605,185...3,628,570
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G |
FAM193A |
family with sequence similarity 193 member A |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:2,678,935...2,875,203
Ensembl chr 4:2,641,979...2,777,761
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G |
FAM53A |
family with sequence similarity 53 member A |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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Ensembl chr 4:1,647,466...1,722,938
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G |
FGFR3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692
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G |
FGFRL1 |
fibroblast growth factor receptor like 1 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:1,125,623...1,142,884
Ensembl chr 4:1,045,583...1,059,936
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G |
GAK |
cyclin G associated kinase |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:952,474...1,049,612
Ensembl chr 4:883,096...967,473
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G |
GRK4 |
G protein-coupled receptor kinase 4 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:3,106,064...3,181,270
Ensembl chr 4:3,008,126...3,083,094
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G |
HAUS3 |
HAUS augmin like complex subunit 3 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:2,370,947...2,385,108
Ensembl chr 4:2,282,482...2,292,739
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G |
HGFAC |
HGF activator |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:3,590,908...3,599,781
Ensembl chr 4:3,575,819...3,583,436
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G |
HTT |
huntingtin |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:3,215,081...3,388,587
Ensembl chr 4:3,128,718...3,283,730
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G |
IDUA |
alpha-L-iduronidase |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:1,102,288...1,120,973
Ensembl chr 4:1,020,582...1,037,877
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G |
LETM1 |
leucine zipper and EF-hand containing transmembrane protein 1 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:1,953,033...1,994,958
Ensembl chr 4:1,862,788...1,900,901
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G |
MAEA |
macrophage erythroblast attacher, E3 ubiquitin ligase |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:1,432,848...1,485,764
Ensembl chr 4:1,315,810...1,366,448
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G |
MFSD10 |
major facilitator superfamily domain containing 10 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:3,073,071...3,077,765
Ensembl chr 4:2,975,493...2,979,791
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G |
MSANTD1 |
Myb/SANT DNA binding domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:3,393,646...3,408,820
Ensembl chr 4:3,290,354...3,305,139
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G |
MXD4 |
MAX dimerization protein 4 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:2,390,409...2,405,141
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G |
MYL5 |
myosin light chain 5 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:723,153...725,981
Ensembl chr 4:708,548...715,897
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G |
NAT8L |
N-acetyltransferase 8 like |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:2,201,326...2,211,302
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G |
NELFA |
negative elongation factor complex member A |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:2,119,699...2,147,618
Ensembl chr 4:2,027,939...2,054,669
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G |
NICOL1 |
NELL2 interacting cell ontogeny regulator 1 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:2,184,128...2,186,148
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G |
NKX1-1 |
NK1 homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:1,547,939...1,551,457
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G |
NOP14 |
NOP14 nucleolar protein |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:3,080,444...3,105,999
Ensembl chr 4:2,982,906...3,007,548
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G |
NSD2 |
nuclear receptor binding SET domain protein 2 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:2,009,276...2,119,182
Ensembl chr 4:1,945,307...2,027,425
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G |
PCGF3 |
polycomb group ring finger 3 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:802,990...874,063
Ensembl chr 4:746,137...805,443
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G |
PDE6B |
phosphodiesterase 6B |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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Ensembl chr 4:646,516...701,680
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G |
PIGG |
phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:499,795...540,453
Ensembl chr 4:521,807...561,790
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G |
POLN |
DNA polymerase nu |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:2,214,154...2,385,094
Ensembl chr 4:2,122,309...2,292,431
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G |
RGS12 |
regulator of G protein signaling 12 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:3,439,030...3,589,026
Ensembl chr 4:3,444,570...3,573,712
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G |
RIT1 |
Ras like without CAAX 1 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 1:131,232,277...131,245,437
Ensembl chr 1:135,063,000...135,074,942
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G |
RNF212 |
ring finger protein 212 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:1,167,176...1,259,080
Ensembl chr 4:1,102,342...1,146,153
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G |
RNF4 |
ring finger protein 4 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:2,614,918...2,661,785
Ensembl chr 4:2,540,612...2,563,937
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G |
SH3BP2 |
SH3 domain binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Cherubism | ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
OMIM ClinVar |
PMID:9536098 PMID:11381256 PMID:12900899 PMID:14577811 PMID:15507112 PMID:16199547 PMID:16786512 PMID:17218256 PMID:17321449 PMID:17576681 PMID:18596838 PMID:19017279 PMID:19576004 PMID:20002873 PMID:20117257 PMID:21045962 PMID:21794028 PMID:22153076 PMID:22153077 PMID:22640988 PMID:22795151 PMID:23298620 PMID:24033266 PMID:24382142 PMID:24608212 PMID:24916406 PMID:25144740 PMID:25741868 PMID:26064398 PMID:27272835 PMID:28492532 PMID:28644570 PMID:28904407 PMID:30236129 PMID:34573280 More...
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NCBI chr 4:2,936,051...2,982,062
Ensembl chr 4:2,857,249...2,882,263
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G |
SLBP |
stem-loop histone mRNA binding protein |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:1,830,247...1,849,890
Ensembl chr 4:1,744,616...1,763,796
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G |
SLC26A1 |
solute carrier family 26 member 1 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:1,102,938...1,112,987
Ensembl chr 4:1,012,920...1,026,402
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G |
SLC49A3 |
solute carrier family 49 member 3 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:725,725...733,127
Ensembl chr 4:715,736...723,399
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G |
SPON2 |
spondin 2 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:1,309,473...1,351,529
Ensembl chr 4:1,195,848...1,200,400
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G |
TACC3 |
transforming acidic coiled-coil containing protein 3 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:1,858,595...1,882,727
Ensembl chr 4:1,772,836...1,796,019
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G |
TMEM129 |
transmembrane protein 129, E3 ubiquitin ligase |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:1,853,126...1,858,461
Ensembl chr 4:1,767,517...1,772,643
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G |
TMEM175 |
transmembrane protein 175 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:1,049,647...1,074,903
Ensembl chr 4:967,494...993,030
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G |
TNIP2 |
TNFAIP3 interacting protein 2 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:2,884,265...2,899,160
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G |
UVSSA |
UV stimulated scaffold protein A |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:1,492,716...1,532,114
Ensembl chr 4:1,373,562...1,413,982
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G |
ZFYVE28 |
zinc finger FYVE-type containing 28 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:2,412,659...2,564,741
Ensembl chr 4:2,320,446...2,470,638
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G |
ZNF721 |
zinc finger protein 721 |
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ISO |
ClinVar Annotator: match by term: Fibrous dysplasia of jaw |
ClinVar |
PMID:28492532 |
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NCBI chr 4:441,041...499,744
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G |
ERF |
ETS2 repressor factor |
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ISO |
ClinVar Annotator: match by term: Chitayat syndrome |
OMIM ClinVar |
PMID:8418638 PMID:23354439 PMID:25741868 PMID:26097063 PMID:27738187 PMID:28492532 PMID:28808027 PMID:29758562 PMID:30569521 PMID:30728880 PMID:30758909 PMID:32370745 PMID:32592542 More...
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NCBI chr19:39,135,757...39,143,343
Ensembl chr19:47,728,192...47,735,808
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G |
MYL3 |
myosin light chain 3 |
|
ISO |
ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type |
ClinVar |
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NCBI chr 3:46,758,058...46,782,425
Ensembl chr 3:47,859,467...47,865,084
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G |
PTH1R |
parathyroid hormone 1 receptor |
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ISO |
ClinVar Annotator: match by term: Blomstrand lethal osteochondrodysplasia | ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type |
OMIM ClinVar |
PMID:3975110 PMID:9268097 PMID:9536098 PMID:9649554 PMID:9745456 PMID:10523019 PMID:17164305 PMID:17576681 PMID:18559376 PMID:21404329 PMID:23771181 PMID:25741868 PMID:28492532 PMID:31986066 More...
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NCBI chr 3:46,777,945...46,804,039
Ensembl chr 3:47,894,901...47,905,431
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G |
ARSL |
arylsulfatase L |
susceptibility |
ISO |
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RGD |
PMID:9409863 |
RGD:1599238 |
Ensembl chr X:2,858,431...2,919,756
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G |
EBP |
EBP cholestenol delta-isomerase |
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ISO |
CDPX2, OMIM:302960;DNA:point mutation:exon:W29X, R63X CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:10391218 PMID:18176751 |
RGD:734908 |
NCBI chr X:40,820,042...40,826,957
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G |
BPNT2 |
3'(2'), 5'-bisphosphate nucleotidase 2 |
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ISO |
ClinVar Annotator: match by term: Chondrodysplasia with joint dislocations, gPAPP type |
OMIM ClinVar |
PMID:21549340 PMID:21834032 PMID:22887726 PMID:25741868 PMID:28492532 PMID:31130284 More...
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NCBI chr 8:53,385,837...53,417,019
Ensembl chr 8:50,753,792...50,785,055
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G |
HDAC6 |
histone deacetylase 6 |
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ISO |
ClinVar Annotator: match by term: X-linked dominant chondrodysplasia, Chassaing-Lacombe type |
OMIM ClinVar |
PMID:16001442 PMID:20181727 PMID:25741868 PMID:28492532 |
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NCBI chr X:41,099,539...41,122,650
Ensembl chr X:48,960,430...48,982,642
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G |
HHAT |
hedgehog acyltransferase |
|
ISO |
ClinVar Annotator: match by term: Chondrodysplasia-pseudohermaphroditism syndrome | ClinVar Annotator: match by term: Pseudohermaphrodism and chondrodysplasia |
OMIM ClinVar |
PMID:24784881 PMID:25741868 PMID:28492532 PMID:30912300 |
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NCBI chr 1:185,885,604...186,231,857
Ensembl chr 1:190,755,249...191,100,284
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G |
AGT |
angiotensinogen |
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ISO |
ClinVar Annotator: match by term: Large fontanelles |
ClinVar |
PMID:25741868 PMID:35005812 |
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NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044
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G |
RUNX2 |
RUNX family transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: CLEIDOCRANIAL DYSPLASIA 1 | ClinVar Annotator: match by term: Cleidocranial dysostosis | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, dental anomalies only | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, with brachydactyly |
OMIM ClinVar |
PMID:9182765 PMID:9207800 PMID:10521292 PMID:10545612 PMID:10980549 PMID:11321595 PMID:11768584 PMID:11857736 PMID:12081718 PMID:12132307 PMID:12196916 PMID:12424590 PMID:15301373 PMID:15952089 PMID:16199547 PMID:16221346 PMID:19515746 PMID:19767586 PMID:20648631 PMID:20702542 PMID:21734816 PMID:22023169 PMID:23290074 PMID:24138303 PMID:24222232 PMID:24634175 PMID:25741868 PMID:26279653 PMID:26380986 PMID:27993330 PMID:28056872 PMID:28492532 PMID:28505335 PMID:28738062 PMID:29758562 PMID:29891876 PMID:30391578 PMID:31548836 PMID:32360898 PMID:33987976 More...
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NCBI chr 6:45,003,962...45,133,148
Ensembl chr 6:46,189,432...46,524,389
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G |
SUPT3H |
SPT3 homolog, SAGA and STAGA complex component |
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ISO |
ClinVar Annotator: match by term: Cleidocranial dysostosis |
ClinVar |
PMID:33987976 |
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NCBI chr 6:44,406,978...44,960,039
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G |
TBX1 |
T-box transcription factor 1 |
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ISO |
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RGD |
PMID:25209980 |
RGD:155641242 |
NCBI chr22:2,521,080...2,541,267
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G |
CBFB |
core-binding factor subunit beta |
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ISO |
ClinVar Annotator: match by term: Cleidocranial dysplasia 2 |
OMIM ClinVar |
PMID:25741868 PMID:36241386 |
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NCBI chr16:47,373,543...47,446,783
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G |
LONP1 |
lon peptidase 1, mitochondrial |
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ISO |
ClinVar Annotator: match by term: CEREBRAL, OCULAR, DENTAL, AURICULAR, AND SKELETAL ANOMALIES SYNDROME | ClinVar Annotator: match by term: CODAS syndrome | ClinVar Annotator: match by term: Cerebral, ocular, dental, auricular, and skeletal syndrome | ClinVar Annotator: match by term: LONP1-related condition |
OMIM ClinVar |
PMID:1887855 PMID:5574826 PMID:9536098 PMID:17576681 PMID:25574826 PMID:25741868 PMID:25741869 PMID:25808063 PMID:26034137 PMID:27878435 PMID:28492532 PMID:29408517 PMID:30304514 PMID:31636596 PMID:31923470 PMID:34547244 More...
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NCBI chr19:4,709,062...4,735,653
Ensembl chr19:5,644,525...5,670,956
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G |
P4HB |
prolyl 4-hydroxylase subunit beta |
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ISO |
ClinVar Annotator: match by term: Bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features | ClinVar Annotator: match by term: Cole-Carpenter syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:76,248,252...76,266,152
Ensembl chr17:81,950,422...81,968,109
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G |
SEC24D |
SEC24 homolog D, COPII coat complex component |
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