Term: | Abnormal long bone morphology |
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Accession: | HP:0011314
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browse the term
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Definition: | An abnormality of size or shape of the long bones. |
Synonyms: | exact_synonym: | Abnormal shape of long bone; Abnormality of long bone morphology; Abnormality of the tubular bones |
| alt_id: | HP:0100713; HP:0100714; HP:0100715 |
| xref: | UMLS:C4021165 |
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COL11A2 |
collagen type XI alpha 2 chain |
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IAGP |
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HPO |
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ORPHA:1427 |
NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499
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CTNS |
cystinosin, lysosomal cystine transporter |
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IAGP |
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HPO |
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ORPHA:411634 |
NCBI chr17:3,636,459...3,663,103
Ensembl chr17:3,636,459...3,663,103
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FGFR2 |
fibroblast growth factor receptor 2 |
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IAGP |
DNA:missense mutations:cds:p.M391R, p.Y381D |
RGD |
PMID:22387015 |
RGD:12801468 |
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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GNPTAB |
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta |
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IAGP |
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HPO |
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ORPHA:576 |
NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959
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HNRNPA1 |
heterogeneous nuclear ribonucleoprotein A1 |
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IAGP |
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HPO |
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ORPHA:52430 |
NCBI chr12:54,280,726...54,287,087
Ensembl chr12:54,280,193...54,287,088
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HNRNPA2B1 |
heterogeneous nuclear ribonucleoprotein A2/B1 |
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IAGP |
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HPO |
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ORPHA:52430 |
NCBI chr 7:26,189,927...26,200,746
Ensembl chr 7:26,171,151...26,201,529
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LEMD3 |
LEM domain containing 3 |
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IAGP |
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HPO |
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ORPHA:166119 |
NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355
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SLC35A2 |
solute carrier family 35 member A2 |
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IAGP |
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HPO |
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ORPHA:356961 |
NCBI chr X:48,903,183...48,911,958
Ensembl chr X:48,903,180...48,911,958
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TMEM67 |
transmembrane protein 67 |
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IAGP |
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HPO |
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ORPHA:140976 |
NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
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VCP |
valosin containing protein |
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IAGP |
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HPO |
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ORPHA:52430 |
NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668
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ANTXR2 |
ANTXR cell adhesion molecule 2 |
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IAGP |
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HPO |
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ORPHA:2028 |
NCBI chr 4:79,901,146...80,073,472
Ensembl chr 4:79,901,146...80,125,454
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BMP4 |
bone morphogenetic protein 4 |
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IAGP |
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HPO |
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ORPHA:828 |
NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
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COL11A1 |
collagen type XI alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:2021 |
NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872
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COL11A2 |
collagen type XI alpha 2 chain |
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IAGP |
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HPO |
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ORPHA:2021 |
NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499
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GJA1 |
gap junction protein alpha 1 |
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IAGP |
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HPO |
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ORPHA:2710 |
NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
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IDUA |
alpha-L-iduronidase |
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IAGP |
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HPO |
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ORPHA:93473 |
NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564
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IFT122 |
intraflagellar transport 122 |
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IAGP |
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HPO |
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ORPHA:1515 |
NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510
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IFT43 |
intraflagellar transport 43 |
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IAGP |
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HPO |
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ORPHA:1515 |
NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585
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IFT52 |
intraflagellar transport 52 |
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IAGP |
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HPO |
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ORPHA:1515 |
NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299
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PDE4D |
phosphodiesterase 4D |
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IAGP |
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HPO |
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ORPHA:950 |
NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120
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PRKAR1A |
protein kinase cAMP-dependent type I regulatory subunit alpha |
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IAGP |
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HPO |
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ORPHA:950 |
NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
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RMRP |
RNA component of mitochondrial RNA processing endoribonuclease |
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IAGP |
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HPO |
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ORPHA:175 |
NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017
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RPS6KA3 |
ribosomal protein S6 kinase A3 |
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IAGP |
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HPO |
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ORPHA:192 |
NCBI chr X:20,149,911...20,267,097
Ensembl chr X:20,149,911...20,267,519
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TGFB1 |
transforming growth factor beta 1 |
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IAGP |
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HPO |
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ORPHA:1328 |
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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WDR19 |
WD repeat domain 19 |
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IAGP |
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HPO |
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ORPHA:1515 |
NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
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WDR35 |
WD repeat domain 35 |
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IAGP |
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HPO |
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ORPHA:1515 |
NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
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COL10A1 |
collagen type X alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:174 |
NCBI chr 6:116,118,909...116,217,144
Ensembl chr 6:116,118,909...116,158,747
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ACAN |
aggrecan |
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IAGP |
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HPO |
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ORPHA:93283 |
NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353
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BMP4 |
bone morphogenetic protein 4 |
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IAGP |
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HPO |
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ORPHA:828 |
NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
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BMPR1B |
bone morphogenetic protein receptor type 1B |
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IAGP |
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HPO |
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ORPHA:2639 |
NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
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CDC45 |
cell division cycle 45 |
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IAGP |
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HPO |
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ORPHA:2554 |
NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612
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CDC6 |
cell division cycle 6 |
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IAGP |
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HPO |
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ORPHA:2554 |
NCBI chr17:40,287,879...40,304,657
Ensembl chr17:40,287,879...40,304,657
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CDT1 |
chromatin licensing and DNA replication factor 1 |
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IAGP |
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HPO |
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ORPHA:2554 |
NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258
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CLCN7 |
chloride voltage-gated channel 7 |
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IAGP |
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HPO |
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ORPHA:53 ORPHA:667 |
NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077
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COL2A1 |
collagen type II alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:90653 |
NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
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COL9A1 |
collagen type IX alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:166002 ORPHA:250984 |
NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084
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COL9A2 |
collagen type IX alpha 2 chain |
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IAGP |
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HPO |
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ORPHA:166002 ORPHA:250984 |
NCBI chr 1:40,300,489...40,317,286
Ensembl chr 1:40,300,489...40,317,813
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COL9A3 |
collagen type IX alpha 3 chain |
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IAGP |
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HPO |
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ORPHA:166002 ORPHA:250984 |
NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,159
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DDRGK1 |
DDRGK domain containing 1 |
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IAGP |
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HPO |
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ORPHA:93352 |
NCBI chr20:3,190,350...3,204,682
Ensembl chr20:3,190,350...3,204,685
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DUOX2 |
dual oxidase 2 |
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IAGP |
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HPO |
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ORPHA:95716 |
NCBI chr15:45,092,650...45,114,172
Ensembl chr15:45,092,650...45,114,172
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DUOXA2 |
dual oxidase maturation factor 2 |
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IAGP |
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HPO |
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ORPHA:95716 |
NCBI chr15:45,114,326...45,118,421
Ensembl chr15:45,114,326...45,118,421
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ERI1 |
exoribonuclease 1 |
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IAGP |
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HPO |
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MIM:620662 |
NCBI chr 8:9,002,897...9,100,104
Ensembl chr 8:9,002,147...9,116,746
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FBN1 |
fibrillin 1 |
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IAGP |
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HPO |
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ORPHA:969 |
NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
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FLNB |
filamin B |
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IAGP |
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HPO |
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ORPHA:503 |
NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
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GDF5 |
growth differentiation factor 5 |
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IAGP |
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HPO |
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ORPHA:2639 ORPHA:63442 |
NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
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GMNN |
geminin DNA replication inhibitor |
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IAGP |
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HPO |
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ORPHA:2554 |
NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099
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GORAB |
golgin, RAB6 interacting |
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IAGP |
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HPO |
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ORPHA:2078 |
NCBI chr 1:170,532,166...170,553,834
Ensembl chr 1:170,531,819...170,553,834
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HESX1 |
HESX homeobox 1 |
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IAGP |
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HPO |
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ORPHA:226307 |
NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606
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HPGD |
15-hydroxyprostaglandin dehydrogenase |
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IAGP |
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HPO |
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ORPHA:2796 |
NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154
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HSPG2 |
heparan sulfate proteoglycan 2 |
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IAGP |
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HPO |
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ORPHA:800 |
NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
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IDUA |
alpha-L-iduronidase |
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IAGP |
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HPO |
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ORPHA:93473 |
NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564
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INPPL1 |
inositol polyphosphate phosphatase like 1 |
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IAGP |
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HPO |
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ORPHA:2746 |
NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,701...72,239,147
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IYD |
iodotyrosine deiodinase |
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IAGP |
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HPO |
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ORPHA:95716 |
NCBI chr 6:150,369,012...150,405,969
Ensembl chr 6:150,368,892...150,405,969
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KIF1A |
kinesin family member 1A |
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IAGP |
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HPO |
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ORPHA:970 |
NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293
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LHX3 |
LIM homeobox 3 |
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IAGP |
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HPO |
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ORPHA:226307 |
NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128
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LHX4 |
LIM homeobox 4 |
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IAGP |
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HPO |
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ORPHA:226307 |
NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984
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LMBR1 |
limb development membrane protein 1 |
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IAGP |
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HPO |
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ORPHA:931 |
NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
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LONP1 |
lon peptidase 1, mitochondrial |
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IAGP |
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HPO |
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ORPHA:1458 |
NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572
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LTBP3 |
latent transforming growth factor beta binding protein 3 |
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IAGP |
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HPO |
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ORPHA:969 |
NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930
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MAFB |
MAF bZIP transcription factor B |
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IAGP |
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HPO |
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ORPHA:2774 |
NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236
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MMP13 |
matrix metallopeptidase 13 |
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IAGP |
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HPO |
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ORPHA:1040 ORPHA:2501 |
NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732
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MMP9 |
matrix metallopeptidase 9 |
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IAGP |
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HPO |
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ORPHA:1040 |
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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OCRL |
OCRL inositol polyphosphate-5-phosphatase |
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IAGP |
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HPO |
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ORPHA:534 |
NCBI chr X:129,540,259...129,592,556
Ensembl chr X:129,539,849...129,592,561
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ORC1 |
origin recognition complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:2554 |
NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423
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ORC4 |
origin recognition complex subunit 4 |
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IAGP |
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HPO |
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ORPHA:2554 |
NCBI chr 2:147,930,396...148,021,551
Ensembl chr 2:147,930,396...148,021,604
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ORC6 |
origin recognition complex subunit 6 |
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IAGP |
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HPO |
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ORPHA:2554 |
NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394
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PCNT |
pericentrin |
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IAGP |
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HPO |
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ORPHA:2637 |
NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769
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PCYT1A |
phosphate cytidylyltransferase 1A, choline |
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IAGP |
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HPO |
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ORPHA:85167 |
NCBI chr 3:196,234,368...196,287,726
Ensembl chr 3:196,214,222...196,287,957
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PEX1 |
peroxisomal biogenesis factor 1 |
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IAGP |
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HPO |
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ORPHA:772 |
NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520
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PEX10 |
peroxisomal biogenesis factor 10 |
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IAGP |
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HPO |
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ORPHA:772 |
NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797
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PEX11B |
peroxisomal biogenesis factor 11 beta |
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IAGP |
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HPO |
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ORPHA:772 |
NCBI chr 1:145,911,348...145,918,717
Ensembl chr 1:145,911,350...145,918,717
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PEX12 |
peroxisomal biogenesis factor 12 |
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IAGP |
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HPO |
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ORPHA:772 |
NCBI chr17:35,574,795...35,578,571
Ensembl chr17:35,574,795...35,578,863
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PEX13 |
peroxisomal biogenesis factor 13 |
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IAGP |
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HPO |
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ORPHA:772 |
NCBI chr 2:61,017,720...61,051,990
Ensembl chr 2:61,017,225...61,051,990
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PEX14 |
peroxisomal biogenesis factor 14 |
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IAGP |
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HPO |
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ORPHA:772 |
NCBI chr 1:10,474,950...10,630,758
Ensembl chr 1:10,472,288...10,630,758
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PEX16 |
peroxisomal biogenesis factor 16 |
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IAGP |
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HPO |
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ORPHA:772 |
NCBI chr11:45,909,663...45,918,822
Ensembl chr11:45,909,663...45,918,812
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PEX19 |
peroxisomal biogenesis factor 19 |
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IAGP |
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HPO |
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ORPHA:772 |
NCBI chr 1:160,276,807...160,285,151
Ensembl chr 1:160,276,807...160,286,348
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PEX2 |
peroxisomal biogenesis factor 2 |
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IAGP |
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HPO |
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ORPHA:772 |
NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044
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PEX26 |
peroxisomal biogenesis factor 26 |
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IAGP |
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HPO |
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ORPHA:772 |
NCBI chr22:18,077,990...18,105,396
Ensembl chr22:18,077,923...18,105,396
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PEX3 |
peroxisomal biogenesis factor 3 |
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IAGP |
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HPO |
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ORPHA:772 |
NCBI chr 6:143,450,805...143,490,616
Ensembl chr 6:143,450,805...143,490,616
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PEX5 |
peroxisomal biogenesis factor 5 |
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IAGP |
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HPO |
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ORPHA:772 |
NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574
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PEX6 |
peroxisomal biogenesis factor 6 |
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IAGP |
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HPO |
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ORPHA:772 |
NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181
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PEX7 |
peroxisomal biogenesis factor 7 |
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IAGP |
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HPO |
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ORPHA:773 |
NCBI chr 6:136,822,592...136,913,934
Ensembl chr 6:136,822,564...136,913,934
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PHEX |
phosphate regulating endopeptidase X-linked |
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IAGP |
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HPO |
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ORPHA:89936 |
NCBI chr X:22,032,325...22,251,310
Ensembl chr X:22,032,325...22,494,713
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PHYH |
phytanoyl-CoA 2-hydroxylase |
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IAGP |
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HPO |
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ORPHA:773 |
NCBI chr10:13,277,799...13,300,064
Ensembl chr10:13,277,796...13,302,412
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PIGL |
phosphatidylinositol glycan anchor biosynthesis class L |
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IAGP |
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HPO |
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ORPHA:3474 |
NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797
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PORCN |
porcupine O-acyltransferase |
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IAGP |
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HPO |
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ORPHA:2092 |
NCBI chr X:48,508,992...48,520,814
Ensembl chr X:48,508,959...48,520,814
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POU1F1 |
POU class 1 homeobox 1 |
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IAGP |
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HPO |
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ORPHA:226307 |
NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584
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PRDM5 |
PR/SET domain 5 |
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IAGP |
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HPO |
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ORPHA:90354 |
NCBI chr 4:120,684,291...120,922,726
Ensembl chr 4:120,684,919...120,922,870
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PROP1 |
PROP paired-like homeobox 1 |
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IAGP |
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HPO |
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ORPHA:226307 |
NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242
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PTH1R |
parathyroid hormone 1 receptor |
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IAGP |
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HPO |
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ORPHA:50945 |
NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799
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PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
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IAGP |
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HPO |
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ORPHA:2499 |
NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
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PYCR1 |
pyrroline-5-carboxylate reductase 1 |
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IAGP |
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HPO |
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ORPHA:2078 |
NCBI chr17:81,932,391...81,937,300
Ensembl chr17:81,932,384...81,942,412
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RETREG1 |
reticulophagy regulator 1 |
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IAGP |
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HPO |
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ORPHA:970 |
NCBI chr 5:16,473,053...16,616,997
Ensembl chr 5:16,473,038...16,617,101
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RMRP |
RNA component of mitochondrial RNA processing endoribonuclease |
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IAGP |
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HPO |
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ORPHA:175 |
NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017
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RNU4ATAC |
RNA, U4atac small nuclear |
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IAGP |
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HPO |
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ORPHA:1824 |
NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
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RUNX2 |
RUNX family transcription factor 2 |
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IAGP |
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HPO |
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ORPHA:1452 |
NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349
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SCN9A |
sodium voltage-gated channel alpha subunit 9 |
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IAGP |
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HPO |
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ORPHA:970 |
NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001
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SHOX |
SHOX homeobox |
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IAGP |
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HPO |
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ORPHA:240 ORPHA:2632 |
NCBI chr Y:624,344...659,411 NCBI chr X:624,344...659,411
Ensembl chr Y:624,344...659,411 Ensembl chr X:624,344...659,411
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SLC26A2 |
solute carrier family 26 member 2 |
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IAGP |
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HPO |
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ORPHA:628 |
NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
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SLC5A5 |
solute carrier family 5 member 5 |
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IAGP |
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HPO |
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ORPHA:95716 |
NCBI chr19:17,871,945...17,895,174
Ensembl chr19:17,871,945...17,895,174
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SLCO2A1 |
solute carrier organic anion transporter family member 2A1 |
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IAGP |
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HPO |
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ORPHA:2796 |
NCBI chr 3:133,932,701...134,029,925
Ensembl chr 3:133,932,701...134,052,184
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SMAD4 |
SMAD family member 4 |
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IAGP |
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HPO |
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ORPHA:2588 |
NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
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SMARCA2 |
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 |
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IAGP |
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HPO |
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ORPHA:3051 |
NCBI chr 9:2,015,347...2,193,620
Ensembl chr 9:1,980,290...2,193,624
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SNX10 |
sorting nexin 10 |
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IAGP |
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HPO |
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ORPHA:667 |
NCBI chr 7:26,291,862...26,374,383
Ensembl chr 7:26,291,862...26,374,383
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TBX4 |
T-box transcription factor 4 |
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IAGP |
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HPO |
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ORPHA:1509 ORPHA:261279 |
NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110
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TCIRG1 |
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 |
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IAGP |
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HPO |
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ORPHA:667 |
NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
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TG |
thyroglobulin |
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IAGP |
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HPO |
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ORPHA:95716 |
NCBI chr 8:132,866,958...133,134,899
Ensembl chr 8:132,866,958...133,134,903
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TGDS |
TDP-glucose 4,6-dehydratase |
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IAGP |
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HPO |
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ORPHA:1388 |
NCBI chr13:94,574,054...94,596,273
Ensembl chr13:94,574,054...94,596,242
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TNFSF11 |
TNF superfamily member 11 |
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IAGP |
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HPO |
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ORPHA:667 |
NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013
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TPO |
thyroid peroxidase |
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IAGP |
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HPO |
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ORPHA:95716 |
NCBI chr 2:1,374,047...1,543,673
Ensembl chr 2:1,374,066...1,543,711
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TREM2 |
triggering receptor expressed on myeloid cells 2 |
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IAGP |
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HPO |
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ORPHA:2770 |
NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186
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TSHB |
thyroid stimulating hormone subunit beta |
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IAGP |
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HPO |
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ORPHA:90674 |
NCBI chr 1:115,029,826...115,034,309
Ensembl chr 1:115,029,826...115,034,302
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TSHR |
thyroid stimulating hormone receptor |
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IAGP |
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HPO |
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ORPHA:90673 |
NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306
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TYROBP |
transmembrane immune signaling adaptor TYROBP |
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IAGP |
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HPO |
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ORPHA:2770 |
NCBI chr19:35,904,403...35,908,295
Ensembl chr19:35,904,401...35,908,295
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UFSP2 |
UFM1 specific peptidase 2 |
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IAGP |
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HPO |
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ORPHA:2114 |
NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,537...185,425,979
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WNK1 |
WNK lysine deficient protein kinase 1 |
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IAGP |
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HPO |
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ORPHA:970 |
NCBI chr12:752,579...911,452
Ensembl chr12:752,579...911,452
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ZNF469 |
zinc finger protein 469 |
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IAGP |
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HPO |
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ORPHA:90354 |
NCBI chr16:88,100,931...88,440,753
Ensembl chr16:88,382,959...88,440,757
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COL2A1 |
collagen type II alpha 1 chain |
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IAGP |
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HPO |
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MIM:619248 |
NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
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COL2A1 |
collagen type II alpha 1 chain |
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IAGP |
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HPO |
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MIM:108300 |
NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
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COMP |
cartilage oligomeric matrix protein |
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IAGP |
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HPO |
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ORPHA:750 |
NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305
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HSPG2 |
heparan sulfate proteoglycan 2 |
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IAGP |
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HPO |
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MIM:255800 |
NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
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CHEK2 |
checkpoint kinase 2 |
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IAGP |
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HPO |
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ORPHA:668 |
NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422
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RASA1 |
RAS p21 protein activator 1 |
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IAGP |
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HPO |
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ORPHA:90307 |
NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931
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RB1 |
RB transcriptional corepressor 1 |
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IAGP |
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HPO |
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ORPHA:668 |
NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
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TP53 |
tumor protein p53 |
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IAGP |
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HPO |
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ORPHA:668 |
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
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TRIP11 |
thyroid hormone receptor interactor 11 |
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IAGP |
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HPO |
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MIM:200600 |
NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896
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COL10A1 |
collagen type X alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:174 |
NCBI chr 6:116,118,909...116,217,144
Ensembl chr 6:116,118,909...116,158,747
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TRPV4 |
transient receptor potential cation channel subfamily V member 4 |
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IAGP |
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HPO |
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ORPHA:93314 |
NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
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FLNB |
filamin B |
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IAGP |
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HPO |
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ORPHA:1263 ORPHA:56305 |
NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
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MACROH2A1 |
macroH2A.1 histone |
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IAGP |
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HPO |
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ORPHA:1275 |
NCBI chr 5:135,334,381...135,399,887
Ensembl chr 5:135,334,381...135,399,914
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PITX1 |
paired like homeodomain 1 |
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IAGP |
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HPO |
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ORPHA:1275 |
NCBI chr 5:135,027,734...135,034,789
Ensembl chr 5:135,027,734...135,034,813
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SHOX |
SHOX homeobox |
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IAGP |
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HPO |
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ORPHA:240 |
NCBI chr Y:624,344...659,411 NCBI chr X:624,344...659,411
Ensembl chr Y:624,344...659,411 Ensembl chr X:624,344...659,411
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TBX3 |
T-box transcription factor 3 |
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IAGP |
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HPO |
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ORPHA:3138 |
NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175
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TBX5 |
T-box transcription factor 5 |
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IAGP |
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HPO |
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ORPHA:392 |
NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442
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TGFB1 |
transforming growth factor beta 1 |
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IAGP |
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HPO |
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ORPHA:1328 |
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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PHEX |
phosphate regulating endopeptidase X-linked |
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IAGP |
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HPO |
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ORPHA:89936 |
NCBI chr X:22,032,325...22,251,310
Ensembl chr X:22,032,325...22,494,713
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POR |
cytochrome p450 oxidoreductase |
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IAGP |
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HPO |
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ORPHA:95699 |
NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
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LIFR |
LIF receptor subunit alpha |
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IAGP |
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HPO |
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MIM:601559 |
NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354
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TRPV4 |
transient receptor potential cation channel subfamily V member 4 |
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IAGP |
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HPO |
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MIM:156530 |
NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
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ABCC9 |
ATP binding cassette subfamily C member 9 |
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IAGP |
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HPO |
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ORPHA:1517 |
NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543
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ACSL4 |
acyl-CoA synthetase long chain family member 4 |
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IAGP |
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HPO |
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ORPHA:86818 |
NCBI chr X:109,641,335...109,733,257
Ensembl chr X:109,624,244...109,733,403
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ADA |
adenosine deaminase |
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IAGP |
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HPO |
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ORPHA:39041 |
NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252
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AMER1 |
APC membrane recruitment protein 1 |
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IAGP |
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HPO |
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ORPHA:2780 |
NCBI chr X:64,185,117...64,205,708
Ensembl chr X:64,185,117...64,205,708
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AMMECR1 |
AMMECR nuclear protein 1 |
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IAGP |
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HPO |
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ORPHA:86818 |
NCBI chr X:110,194,186...110,440,233
Ensembl chr X:110,194,186...110,440,318
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ANKH |
ANKH inorganic pyrophosphate transport regulator |
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IAGP |
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HPO |
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ORPHA:1522 |
NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778
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ANTXR1 |
ANTXR cell adhesion molecule 1 |
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IAGP |
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HPO |
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ORPHA:2067 |
NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327
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ATP7A |
ATPase copper transporting alpha |
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IAGP |
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HPO |
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ORPHA:565 |
NCBI chr X:77,910,693...78,050,395
Ensembl chr X:77,910,690...78,050,395
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CANT1 |
calcium activated nucleotidase 1 |
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IAGP |
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HPO |
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ORPHA:1425 |
NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867
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CASR |
calcium sensing receptor |
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IAGP |
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HPO |
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ORPHA:417 |
NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629
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CCDC8 |
coiled-coil domain containing 8 |
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IAGP |
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HPO |
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ORPHA:2616 |
NCBI chr19:46,410,329...46,413,564
Ensembl chr19:46,410,329...46,413,564
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CEP120 |
centrosomal protein 120 |
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IAGP |
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HPO |
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ORPHA:474 |
NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592
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CHD7 |
chromodomain helicase DNA binding protein 7 |
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IAGP |
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HPO |
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ORPHA:39041 |
NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
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CHEK2 |
checkpoint kinase 2 |
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IAGP |
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HPO |
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ORPHA:668 |
NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422
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CLCN7 |
chloride voltage-gated channel 7 |
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IAGP |
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HPO |
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ORPHA:53 ORPHA:667 |
NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077
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COL11A1 |
collagen type XI alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:2021 |
NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872
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COL11A2 |
collagen type XI alpha 2 chain |
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IAGP |
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HPO |
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ORPHA:2021 |
NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499
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COL2A1 |
collagen type II alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:93316 |
NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
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CRTAP |
cartilage associated protein |
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IAGP |
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HPO |
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ORPHA:2050 |
NCBI chr 3:33,114,014...33,147,773
Ensembl chr 3:33,114,014...33,147,773
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CSGALNACT1 |
chondroitin sulfate N-acetylgalactosaminyltransferase 1 |
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IAGP |
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HPO |
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ORPHA:1425 |
NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,161...19,758,029
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CUL7 |
cullin 7 |
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IAGP |
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HPO |
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ORPHA:2616 |
NCBI chr 6:43,037,617...43,053,851
Ensembl chr 6:43,037,617...43,053,943
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DCLRE1C |
DNA cross-link repair 1C |
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IAGP |
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HPO |
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ORPHA:39041 |
NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432
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DYNC2H1 |
dynein cytoplasmic 2 heavy chain 1 |
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IAGP |
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HPO |
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ORPHA:474 ORPHA:93271 |
NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863
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DYNC2I1 |
dynein 2 intermediate chain 1 |
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IAGP |
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HPO |
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ORPHA:474 ORPHA:93271 |
NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747
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DYNC2I2 |
dynein 2 intermediate chain 2 |
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IAGP |
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HPO |
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ORPHA:474 ORPHA:93271 |
NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847
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G |
DYNC2LI1 |
dynein cytoplasmic 2 light intermediate chain 1 |
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IAGP |
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HPO |
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ORPHA:474 |
NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010
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ERI1 |
exoribonuclease 1 |
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IAGP |
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HPO |
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MIM:620662 |
NCBI chr 8:9,002,897...9,100,104
Ensembl chr 8:9,002,147...9,116,746
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EZH2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
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IAGP |
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HPO |
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ORPHA:3447 |
NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321
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FBN1 |
fibrillin 1 |
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IAGP |
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HPO |
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ORPHA:2462 |
NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
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FGFR3 |
fibroblast growth factor receptor 3 |
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IAGP |
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HPO |
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ORPHA:1860 ORPHA:429 ORPHA:93274 |
NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
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FLNA |
filamin A |
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IAGP |
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HPO |
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ORPHA:2484 |
NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
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G |
GJA1 |
gap junction protein alpha 1 |
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IAGP |
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HPO |
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ORPHA:1522 ORPHA:2710 |
NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
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G |
GPC6 |
glypican 6 |
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IAGP |
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HPO |
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ORPHA:93329 |
NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020
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G |
HSPG2 |
heparan sulfate proteoglycan 2 |
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IAGP |
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HPO |
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ORPHA:800 |
NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
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G |
IDH1 |
isocitrate dehydrogenase (NADP(+)) 1 |
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IAGP |
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HPO |
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ORPHA:296 |
NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
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G |
IDH2 |
isocitrate dehydrogenase (NADP(+)) 2 |
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IAGP |
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HPO |
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ORPHA:296 |
NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477
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G |
IFT122 |
intraflagellar transport 122 |
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IAGP |
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HPO |
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ORPHA:1515 |
NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510
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G |
IFT140 |
intraflagellar transport 140 |
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IAGP |
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HPO |
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ORPHA:474 |
NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072
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IFT172 |
intraflagellar transport 172 |
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IAGP |
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HPO |
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ORPHA:474 |
NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805
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IFT43 |
intraflagellar transport 43 |
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IAGP |
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HPO |
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ORPHA:1515 |
NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585
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IFT52 |
intraflagellar transport 52 |
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IAGP |
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HPO |
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ORPHA:1515 |
NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299
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IFT80 |
intraflagellar transport 80 |
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IAGP |
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HPO |
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ORPHA:474 ORPHA:93271 |
NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880
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IL2RG |
interleukin 2 receptor subunit gamma |
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IAGP |
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HPO |
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ORPHA:39041 |
NCBI chr X:71,107,404...71,111,577
Ensembl chr X:71,107,404...71,112,108
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IL7R |
interleukin 7 receptor |
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IAGP |
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HPO |
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ORPHA:39041 |
NCBI chr 5:35,856,891...35,879,603
Ensembl chr 5:35,852,695...35,879,603
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INPPL1 |
inositol polyphosphate phosphatase like 1 |
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IAGP |
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HPO |
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ORPHA:2746 ORPHA:3144 |
NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,701...72,239,147
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KCNE5 |
potassium voltage-gated channel subfamily E regulatory subunit 5 |
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IAGP |
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HPO |
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ORPHA:86818 |
NCBI chr X:109,623,700...109,625,172
Ensembl chr X:109,623,700...109,625,172
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KCNJ8 |
potassium inwardly rectifying channel subfamily J member 8 |
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IAGP |
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HPO |
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ORPHA:1517 |
NCBI chr12:21,764,955...21,774,706
Ensembl chr12:21,764,955...21,775,600
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KIAA0753 |
KIAA0753 |
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IAGP |
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HPO |
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ORPHA:474 |
NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711
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LIFR |
LIF receptor subunit alpha |
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IAGP |
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HPO |
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ORPHA:3206 |
NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354
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LIG4 |
DNA ligase 4 |
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IAGP |
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HPO |
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ORPHA:39041 |
NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368
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LMBR1 |
limb development membrane protein 1 |
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IAGP |
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HPO |
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ORPHA:931 |
NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
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MMP13 |
matrix metallopeptidase 13 |
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IAGP |
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HPO |
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ORPHA:1040 ORPHA:2501 |
NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732
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MMP9 |
matrix metallopeptidase 9 |
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IAGP |
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HPO |
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ORPHA:1040 |
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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NOTCH3 |
notch receptor 3 |
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IAGP |
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HPO |
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ORPHA:2591 |
NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
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NSD1 |
nuclear receptor binding SET domain protein 1 |
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IAGP |
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HPO |
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ORPHA:3447 |
NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
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OBSL1 |
obscurin like cytoskeletal adaptor 1 |
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IAGP |
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HPO |
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ORPHA:2616 |
NCBI chr 2:219,547,206...219,571,539
Ensembl chr 2:219,550,728...219,571,859
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OCRL |
OCRL inositol polyphosphate-5-phosphatase |
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IAGP |
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HPO |
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ORPHA:534 |
NCBI chr X:129,540,259...129,592,556
Ensembl chr X:129,539,849...129,592,561
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P4HB |
prolyl 4-hydroxylase subunit beta |
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IAGP |
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HPO |
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ORPHA:2050 |
NCBI chr17:81,843,166...81,860,535
Ensembl chr17:81,843,159...81,860,856
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PCNT |
pericentrin |
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IAGP |
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HPO |
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ORPHA:2637 |
NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769
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PDE4D |
phosphodiesterase 4D |
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IAGP |
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HPO |
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ORPHA:950 |
NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120
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PDGFRB |
platelet derived growth factor receptor beta |
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IAGP |
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HPO |
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ORPHA:2591 |
NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
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G |
PRKAR1A |
protein kinase cAMP-dependent type I regulatory subunit alpha |
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IAGP |
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HPO |
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ORPHA:950 |
NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
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G |
PTDSS1 |
phosphatidylserine synthase 1 |
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IAGP |
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HPO |
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ORPHA:2658 |
NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995
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G |
PTH1R |
parathyroid hormone 1 receptor |
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IAGP |
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HPO |
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ORPHA:296 |
NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799
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G |
PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
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IAGP |
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HPO |
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ORPHA:2499 |
NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
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G |
RAG1 |
recombination activating 1 |
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IAGP |
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HPO |
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ORPHA:39041 |
NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156
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RAG2 |
recombination activating 2 |
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IAGP |
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HPO |
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ORPHA:39041 |
NCBI chr11:36,590,996...36,598,236
Ensembl chr11:36,575,574...36,598,279
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RB1 |
RB transcriptional corepressor 1 |
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IAGP |
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HPO |
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ORPHA:668 |
NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
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RMRP |
RNA component of mitochondrial RNA processing endoribonuclease |
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IAGP |
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HPO |
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ORPHA:175 ORPHA:39041 |
NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017
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RNU4ATAC |
RNA, U4atac small nuclear |
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IAGP |
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HPO |
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ORPHA:2636 |
NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
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G |
SEC24D |
SEC24 homolog D, COPII coat complex component |
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IAGP |
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HPO |
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ORPHA:2050 |
NCBI chr 4:118,722,823...118,836,126
Ensembl chr 4:118,722,823...118,838,683
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G |
SHOX |
SHOX homeobox |
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IAGP |
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HPO |
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ORPHA:240 |
NCBI chr Y:624,344...659,411 NCBI chr X:624,344...659,411
Ensembl chr Y:624,344...659,411 Ensembl chr X:624,344...659,411
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SKI |
SKI proto-oncogene |
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IAGP |
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HPO |
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ORPHA:2462 |
NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213
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G |
SLC26A2 |
solute carrier family 26 member 2 |
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IAGP |
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HPO |
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ORPHA:628 |
NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
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G |
SLC29A3 |
solute carrier family 29 member 3 |
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IAGP |
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HPO |
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ORPHA:1782 |
NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423
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G |
SLC35D1 |
solute carrier family 35 member D1 |
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IAGP |
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HPO |
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ORPHA:3144 |
NCBI chr 1:66,972,976...67,054,148
Ensembl chr 1:66,999,350...67,054,148
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G |
SLC39A13 |
solute carrier family 39 member 13 |
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IAGP |
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HPO |
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ORPHA:157965 |
NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,496
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G |
SMAD4 |
SMAD family member 4 |
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IAGP |
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HPO |
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ORPHA:2588 |
NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
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G |
SNX10 |
sorting nexin 10 |
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IAGP |
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HPO |
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ORPHA:667 |
NCBI chr 7:26,291,862...26,374,383
Ensembl chr 7:26,291,862...26,374,383
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G |
SUZ12 |
SUZ12 polycomb repressive complex 2 subunit |
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IAGP |
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HPO |
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ORPHA:3447 |
NCBI chr17:31,937,007...32,001,038
Ensembl chr17:31,937,007...32,001,045
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G |
TBXAS1 |
thromboxane A synthase 1 |
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IAGP |
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HPO |
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ORPHA:1802 |
NCBI chr 7:139,778,242...140,020,293
Ensembl chr 7:139,777,051...140,020,325
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G |
TCIRG1 |
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 |
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IAGP |
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HPO |
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ORPHA:1782 ORPHA:667 |
NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
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G |
TNFRSF11A |
TNF receptor superfamily member 11a |
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IAGP |
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HPO |
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ORPHA:1782 |
NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,287...62,391,288
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G |
TNFSF11 |
TNF superfamily member 11 |
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IAGP |
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HPO |
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ORPHA:667 |
NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013
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G |
TP53 |
tumor protein p53 |
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IAGP |
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HPO |
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ORPHA:668 |
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
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G |
TRIP11 |
thyroid hormone receptor interactor 11 |
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IAGP |
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HPO |
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ORPHA:166272 |
NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896
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G |
TRPV4 |
transient receptor potential cation channel subfamily V member 4 |
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IAGP |
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HPO |
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ORPHA:2635 ORPHA:93304 |
NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
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G |
TRPV6 |
transient receptor potential cation channel subfamily V member 6 |
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IAGP |
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HPO |
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ORPHA:417 |
NCBI chr 7:142,871,208...142,885,745
Ensembl chr 7:142,871,208...142,885,745
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G |
TTC21B |
tetratricopeptide repeat domain 21B |
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IAGP |
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HPO |
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ORPHA:474 |
NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851
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G |
VDR |
vitamin D receptor |
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IAGP |
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HPO |
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ORPHA:93160 |
NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
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G |
WDR19 |
WD repeat domain 19 |
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IAGP |
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HPO |
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ORPHA:1515 ORPHA:474 |
NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
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G |
WDR35 |
WD repeat domain 35 |
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IAGP |
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HPO |
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ORPHA:1515 ORPHA:93271 |
NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
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G |
XYLT1 |
xylosyltransferase 1 |
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IAGP |
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HPO |
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ORPHA:1425 |
NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960
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AGA |
aspartylglucosaminidase |
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IAGP |
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HPO |
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ORPHA:93 |
NCBI chr 4:177,430,774...177,442,437
Ensembl chr 4:177,430,774...177,442,437
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G |
BMPR1B |
bone morphogenetic protein receptor type 1B |
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IAGP |
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HPO |
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ORPHA:2639 |
NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
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G |
BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
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IAGP |
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HPO |
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ORPHA:1340 |
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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G |
BRCA1 |
BRCA1 DNA repair associated |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245
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G |
BRCA2 |
BRCA2 DNA repair associated |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268
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G |
BRD4 |
bromodomain containing 4 |
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IAGP |
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HPO |
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ORPHA:199 |
NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545
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G |
BRIP1 |
BRCA1 interacting DNA helicase 1 |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559
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G |
ERCC4 |
ERCC excision repair 4, endonuclease catalytic subunit |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
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G |
EXT1 |
exostosin glycosyltransferase 1 |
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IAGP |
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HPO |
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ORPHA:321 |
NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826
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G |
EXT2 |
exostosin glycosyltransferase 2 |
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IAGP |
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HPO |
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ORPHA:321 |
NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962
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G |
FANCA |
FA complementation group A |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
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G |
FANCB |
FA complementation group B |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr X:14,689,524...14,873,069
Ensembl chr X:14,690,388...14,873,255
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G |
FANCC |
FA complementation group C |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796
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G |
FANCD2 |
FA complementation group D2 |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
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G |
FANCE |
FA complementation group E |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104
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G |
FANCF |
FA complementation group F |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823
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G |
FANCG |
FA complementation group G |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004
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G |
FANCI |
FA complementation group I |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261
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G |
FANCL |
FA complementation group L |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410
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G |
FANCM |
FA complementation group M |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890
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G |
FLNB |
filamin B |
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IAGP |
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HPO |
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ORPHA:1263 |
NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
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G |
GDF5 |
growth differentiation factor 5 |
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IAGP |
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HPO |
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ORPHA:2639 |
NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
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G |
HDAC8 |
histone deacetylase 8 |
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IAGP |
|
HPO |
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ORPHA:199 |
NCBI chr X:72,329,516...72,572,843
Ensembl chr X:72,329,516...72,573,101
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G |
KRAS |
KRAS proto-oncogene, GTPase |
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IAGP |
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HPO |
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ORPHA:1340 |
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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G |
MACROH2A1 |
macroH2A.1 histone |
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IAGP |
|
HPO |
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ORPHA:1275 |
NCBI chr 5:135,334,381...135,399,887
Ensembl chr 5:135,334,381...135,399,914
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G |
MAD2L2 |
mitotic arrest deficient 2 like 2 |
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IAGP |
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HPO |
|
ORPHA:84 |
NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,657,230...11,691,811
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G |
MAP2K1 |
mitogen-activated protein kinase kinase 1 |
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IAGP |
|
HPO |
|
ORPHA:1340 |
NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656
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G |
MAP2K2 |
mitogen-activated protein kinase kinase 2 |
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IAGP |
|
HPO |
|
ORPHA:1340 |
NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122
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G |
MMP13 |
matrix metallopeptidase 13 |
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IAGP |
|
HPO |
|
ORPHA:1040 |
NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732
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G |
MMP9 |
matrix metallopeptidase 9 |
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IAGP |
|
HPO |
|
ORPHA:1040 |
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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G |
NIPBL |
NIPBL cohesin loading factor |
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IAGP |
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HPO |
|
ORPHA:199 |
NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413
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G |
PALB2 |
partner and localizer of BRCA2 |
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IAGP |
|
HPO |
|
ORPHA:84 |
NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321
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G |
PDE4D |
phosphodiesterase 4D |
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IAGP |
|
HPO |
|
ORPHA:950 |
NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120
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G |
PITX1 |
paired like homeodomain 1 |
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IAGP |
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HPO |
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ORPHA:1275 |
NCBI chr 5:135,027,734...135,034,789
Ensembl chr 5:135,027,734...135,034,813
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PLXND1 |
plexin D1 |
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IAGP |
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HPO |
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ORPHA:570 |
NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676
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PRKAR1A |
protein kinase cAMP-dependent type I regulatory subunit alpha |
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IAGP |
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HPO |
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ORPHA:950 |
NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
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RAD21 |
RAD21 cohesin complex component |
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IAGP |
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HPO |
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ORPHA:199 |
NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776
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RAD51 |
RAD51 recombinase |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340
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RAD51C |
RAD51 paralog C |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611
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REV3L |
REV3 like, DNA directed polymerase zeta catalytic subunit |
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IAGP |
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HPO |
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ORPHA:570 |
NCBI chr 6:111,299,033...111,483,711
Ensembl chr 6:111,299,028...111,483,715
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RFWD3 |
ring finger and WD repeat domain 3 |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877
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SHOX |
SHOX homeobox |
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IAGP |
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HPO |
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ORPHA:240 ORPHA:2632 |
NCBI chr Y:624,344...659,411 NCBI chr X:624,344...659,411
Ensembl chr Y:624,344...659,411 Ensembl chr X:624,344...659,411
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SLX4 |
SLX4 structure-specific endonuclease subunit |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606
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SMC1A |
structural maintenance of chromosomes 1A |
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IAGP |
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HPO |
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ORPHA:199 |
NCBI chr X:53,374,149...53,422,728
Ensembl chr X:53,374,149...53,422,728
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SMC3 |
structural maintenance of chromosomes 3 |
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IAGP |
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HPO |
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ORPHA:199 |
NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,684...110,606,048
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TAF6 |
TATA-box binding protein associated factor 6 |
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IAGP |
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HPO |
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ORPHA:199 |
NCBI chr 7:100,107,070...100,127,171
Ensembl chr 7:100,106,876...100,119,841
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TGFB1 |
transforming growth factor beta 1 |
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IAGP |
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HPO |
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ORPHA:1328 |
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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UBE2T |
ubiquitin conjugating enzyme E2 T |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984
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XRCC2 |
X-ray repair cross complementing 2 |
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IAGP |
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HPO |
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ORPHA:84 |
NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193
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COL10A1 |
collagen type X alpha 1 chain |
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IAGP |
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HPO |
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MIM:156500 ORPHA:174 |
NCBI chr 6:116,118,909...116,217,144
Ensembl chr 6:116,118,909...116,158,747
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CHEK2 |
checkpoint kinase 2 |
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IAGP |
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HPO |
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ORPHA:668 |
NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422
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RB1 |
RB transcriptional corepressor 1 |
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IAGP |
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HPO |
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ORPHA:668 |
NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
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TP53 |
tumor protein p53 |
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IAGP |
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HPO |
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ORPHA:668 |
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
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SLC26A2 |
solute carrier family 26 member 2 |
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IAGP |
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HPO |
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ORPHA:93307 |
NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
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ANAPC1 |
anaphase promoting complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:221008 |
NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690
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COL2A1 |
collagen type II alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:85198 |
NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
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MAGEL2 |
MAGE family member L2 |
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IAGP |
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HPO |
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ORPHA:177910 |
NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867
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MMP13 |
matrix metallopeptidase 13 |
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IAGP |
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HPO |
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ORPHA:1040 |
NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732
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MMP9 |
matrix metallopeptidase 9 |
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IAGP |
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HPO |
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ORPHA:1040 |
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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NDN |
necdin, MAGE family member |
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IAGP |
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HPO |
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ORPHA:177910 |
NCBI chr15:23,685,400...23,687,305
Ensembl chr15:23,685,400...23,687,305
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RECQL4 |
RecQ like helicase 4 |
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IAGP |
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HPO |
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ORPHA:221016 |
NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
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SNRPN |
small nuclear ribonucleoprotein polypeptide N |
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IAGP |
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HPO |
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ORPHA:177910 |
NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723
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MATN3 |
matrilin 3 |
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IAGP |
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HPO |
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ORPHA:93311 |
NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668
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COL2A1 |
collagen type II alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:90653 |
NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
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COL9A1 |
collagen type IX alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:166002 |
NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084
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COL9A2 |
collagen type IX alpha 2 chain |
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IAGP |
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HPO |
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ORPHA:166002 |
NCBI chr 1:40,300,489...40,317,286
Ensembl chr 1:40,300,489...40,317,813
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COL9A3 |
collagen type IX alpha 3 chain |
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IAGP |
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HPO |
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ORPHA:166002 |
NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,159
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COL9A1 |
collagen type IX alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:166002 |
NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084
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COL9A2 |
collagen type IX alpha 2 chain |
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IAGP |
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HPO |
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ORPHA:166002 |
NCBI chr 1:40,300,489...40,317,286
Ensembl chr 1:40,300,489...40,317,813
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G |
COL9A3 |
collagen type IX alpha 3 chain |
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IAGP |
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HPO |
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ORPHA:166002 |
NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,159
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COL9A1 |
collagen type IX alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:166002 |
NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084
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COL9A2 |
collagen type IX alpha 2 chain |
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IAGP |
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HPO |
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ORPHA:166002 |
NCBI chr 1:40,300,489...40,317,286
Ensembl chr 1:40,300,489...40,317,813
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G |
COL9A3 |
collagen type IX alpha 3 chain |
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IAGP |
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HPO |
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ORPHA:166002 |
NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,159
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MATN3 |
matrilin 3 |
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IAGP |
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HPO |
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ORPHA:93311 |
NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668
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COL2A1 |
collagen type II alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:485 ORPHA:93316 |
NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
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RINT1 |
RAD50 interactor 1 |
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IAGP |
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HPO |
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MIM:618641 |
NCBI chr 7:105,532,201...105,567,677
Ensembl chr 7:105,532,169...105,567,677
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UFSP2 |
UFM1 specific peptidase 2 |
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IAGP |
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HPO |
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ORPHA:2114 |
NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,537...185,425,979
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FAM111A |
FAM111 trypsin like peptidase A |
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IAGP |
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HPO |
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MIM:127000 |
NCBI chr11:59,142,856...59,155,039
Ensembl chr11:59,142,748...59,155,039
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INPP5E |
inositol polyphosphate-5-phosphatase E |
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IAGP |
ClinVar Annotator: match by term: Absent epiphyses |
ClinVar |
PMID:15786477 PMID:19668216 PMID:25741868 PMID:26748598 PMID:27401686 PMID:28492532 PMID:29186038 PMID:33749171 PMID:34188062 More...
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NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845
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LONP1 |
lon peptidase 1, mitochondrial |
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IAGP |
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HPO |
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MIM:600373 |
NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572
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TNFRSF13B |
TNF receptor superfamily member 13B |
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IAGP |
ClinVar Annotator: match by term: Absent epiphyses |
ClinVar |
PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 PMID:17392797 PMID:17392798 PMID:17492055 PMID:17983875 PMID:18981294 PMID:19210517 PMID:19392801 PMID:19629655 PMID:19779048 PMID:20889194 PMID:21419480 PMID:21458042 PMID:21547394 PMID:21850030 PMID:22076597 PMID:22627058 PMID:22697072 PMID:22699762 PMID:22884984 PMID:22983507 PMID:23237420 PMID:24033266 PMID:24051380 PMID:25174870 PMID:25326637 PMID:25741868 PMID:26100089 PMID:26122175 PMID:26727773 PMID:27123465 PMID:27379089 PMID:27577878 PMID:28492532 PMID:29114388 PMID:29146883 PMID:29555771 PMID:29867916 PMID:29921932 PMID:30665703 PMID:30723478 PMID:31203817 PMID:31618753 PMID:31681265 PMID:32499645 PMID:32581362 PMID:33258288 More...
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NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118
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VANGL1 |
VANGL planar cell polarity protein 1 |
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IAGP |
ClinVar Annotator: match by term: Absent end part of bone |
ClinVar |
PMID:25741868 |
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NCBI chr 1:115,641,970...115,698,221
Ensembl chr 1:115,641,970...115,698,224
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TRPV4 |
transient receptor potential cation channel subfamily V member 4 |
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IAGP |
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HPO |
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ORPHA:93314 |
NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
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FLNB |
filamin B |
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IAGP |
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HPO |
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ORPHA:56305 |
NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
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RNU4ATAC |
RNA, U4atac small nuclear |
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IAGP |
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HPO |
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MIM:210710 |
NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
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TRPV4 |
transient receptor potential cation channel subfamily V member 4 |
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IAGP |
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HPO |
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MIM:156530 |
NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
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COL2A1 |
collagen type II alpha 1 chain |
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IAGP |
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HPO |
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MIM:271700 |
NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
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BMP1 |
bone morphogenetic protein 1 |
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IAGP |
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HPO |
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MIM:614856 |
NCBI chr 8:22,165,372...22,212,326
Ensembl chr 8:22,165,140...22,212,326
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CREB3L1 |
cAMP responsive element binding protein 3 like 1 |
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IAGP |
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HPO |
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MIM:616229 |
NCBI chr11:46,277,662...46,321,409
Ensembl chr11:46,277,662...46,321,409
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KANSL1 |
KAT8 regulatory NSL complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:363958 ORPHA:363965 |
NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389
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HSPG2 |
heparan sulfate proteoglycan 2 |
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IAGP |
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HPO |
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MIM:255800 |
NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
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SATB2 |
SATB homeobox 2 |
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IAGP |
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HPO |
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MIM:612313 |
NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266
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SOX9 |
SRY-box transcription factor 9 |
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IAGP |
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HPO |
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MIM:114290 |
NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
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ESCO2 |
establishment of sister chromatid cohesion N-acetyltransferase 2 |
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IAGP |
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HPO |
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MIM:268300 |
NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640
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LMBR1 |
limb development membrane protein 1 |
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IAGP |
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HPO |
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MIM:200500 ORPHA:931 |
NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216
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TBX3 |
T-box transcription factor 3 |
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IAGP |
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HPO |
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MIM:181450 |
NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175
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TBX5 |
T-box transcription factor 5 |
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IAGP |
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HPO |
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MIM:142900 |
NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442
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WNT7A |
Wnt family member 7A |
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IAGP |
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HPO |
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MIM:276820 ORPHA:2879 |
NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071
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COL11A2 |
collagen type XI alpha 2 chain |
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IAGP |
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HPO |
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MIM:215150 |
NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499
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ATP7A |
ATPase copper transporting alpha |
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IAGP |
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HPO |
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ORPHA:198 |
NCBI chr X:77,910,693...78,050,395
Ensembl chr X:77,910,690...78,050,395
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RBM8A |
RNA binding motif protein 8A |
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IAGP |
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HPO |
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MIM:274000 ORPHA:3320 |
NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678
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BHLHA9 |
basic helix-loop-helix family member a9 |
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IAGP |
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HPO |
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ORPHA:1986 ORPHA:3329 |
NCBI chr17:1,270,444...1,271,815
Ensembl chr17:1,270,444...1,271,815
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FLNB |
filamin B |
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IAGP |
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HPO |
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MIM:108720 |
NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
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RBM8A |
RNA binding motif protein 8A |
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IAGP |
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HPO |
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ORPHA:3320 |
NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678
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SF3B4 |
splicing factor 3b subunit 4 |
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IAGP |
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HPO |
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ORPHA:1788 |
NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803
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G |
TBX3 |
T-box transcription factor 3 |
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IAGP |
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HPO |
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ORPHA:3138 |
NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175
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G |
WNT7A |
Wnt family member 7A |
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IAGP |
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HPO |
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MIM:228930 |
NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071
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ADAMTS2 |
ADAM metallopeptidase with thrombospondin type 1 motif 2 |
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IAGP |
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HPO |
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ORPHA:1901 |
NCBI chr 5:179,110,853...179,345,461
Ensembl chr 5:179,110,853...179,345,461
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G |
ADAMTSL2 |
ADAMTS like 2 |
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IAGP |
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HPO |
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ORPHA:1901 |
NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519
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ATP7A |
ATPase copper transporting alpha |
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IAGP |
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HPO |
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ORPHA:198 |
NCBI chr X:77,910,693...78,050,395
Ensembl chr X:77,910,690...78,050,395
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G |
COL1A1 |
collagen type I alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:1899 |
NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
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G |
COL1A2 |
collagen type I alpha 2 chain |
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IAGP |
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HPO |
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ORPHA:1899 |
NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
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G |
COL2A1 |
collagen type II alpha 1 chain |
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IAGP |
ClinVar Annotator: match by term: Perthes-like femoral head changes ClinVar Annotator: match by term: Avascular necrosis of the capital femoral epiphysis ClinVar Annotator: match by term: Coxa plana |
ClinVar HPO |
PMID:7695699 PMID:7752132 PMID:7977371 PMID:8218237 PMID:8325895 PMID:8702139 PMID:8893763 PMID:9016532 PMID:9101290 PMID:9536098 PMID:10982970 PMID:12429249 PMID:12544472 PMID:12939326 PMID:15930420 PMID:17078022 PMID:17347327 PMID:17394019 PMID:17576681 PMID:18272325 PMID:18276201 PMID:19344236 PMID:20179744 PMID:20301479 PMID:21472893 PMID:21924244 PMID:23592912 PMID:25504618 PMID:25592122 PMID:25604898 PMID:25735649 PMID:25741868 PMID:25741869 PMID:25809783 PMID:26037341 PMID:26377240 PMID:26467025 PMID:26626311 PMID:28492532 PMID:28559085 PMID:29750297 PMID:30138938 PMID:30792901 PMID:32333414 PMID:33249554 PMID:34394176 More...
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MIM:150600 MIM:608805 ORPHA:93315 |
NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
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COMP |
cartilage oligomeric matrix protein |
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IAGP |
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HPO |
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MIM:132400 ORPHA:93308 |
NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305
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CREBBP |
CREB binding protein |
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IAGP |
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HPO |
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ORPHA:353277 ORPHA:353281 |
NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
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DVL1 |
dishevelled segment polarity protein 1 |
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IAGP |
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HPO |
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ORPHA:3107 |
NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
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DVL3 |
dishevelled segment polarity protein 3 |
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IAGP |
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HPO |
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ORPHA:3107 |
NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614
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EP300 |
E1A binding protein p300 |
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IAGP |
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HPO |
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ORPHA:353284 |
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
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EXT1 |
exostosin glycosyltransferase 1 |
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IAGP |
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HPO |
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ORPHA:502 |
NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826
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FN1 |
fibronectin 1 |
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IAGP |
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HPO |
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ORPHA:93315 |
NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073
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FZD2 |
frizzled class receptor 2 |
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IAGP |
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HPO |
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ORPHA:3107 |
NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262
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GNPTAB |
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta |
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IAGP |
ClinVar Annotator: match by term: Avascular necrosis of the capital femoral epiphysis |
ClinVar |
PMID:19617216 PMID:20301728 PMID:23566849 PMID:25505245 PMID:25741868 PMID:25788519 PMID:28492532 More...
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NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959
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HP |
haptoglobin |
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IAGP |
DNA:missense mutations, duplication:cds, exons, introns:p.A52D, p.E53K, 31-207dup |
RGD |
PMID:24567965 |
RGD:11041787 |
NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
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MATN3 |
matrilin 3 |
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IAGP |
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HPO |
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ORPHA:93311 |
NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668
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NEK9 |
NIMA related kinase 9 |
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IAGP |
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HPO |
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MIM:614262 |
NCBI chr14:75,079,353...75,127,202
Ensembl chr14:75,079,353...75,127,344
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RAB3GAP2 |
RAB3 GTPase activating non-catalytic protein subunit 2 |
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IAGP |
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HPO |
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MIM:212720 |
NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529
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RAD21 |
RAD21 cohesin complex component |
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IAGP |
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HPO |
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ORPHA:502 |
NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776
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SIL1 |
SIL1 nucleotide exchange factor |
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IAGP |
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HPO |
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ORPHA:559 |
NCBI chr 5:138,946,724...139,198,368
Ensembl chr 5:138,946,724...139,293,557
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SKIC3 |
SKI3 subunit of superkiller complex |
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IAGP |
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HPO |
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MIM:222470 |
NCBI chr 5:95,463,894...95,554,977
Ensembl chr 5:95,461,755...95,555,050
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SLC2A10 |
solute carrier family 2 member 10 |
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IAGP |
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HPO |
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ORPHA:3342 |
NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347
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SRCAP |
Snf2 related CREBBP activator protein |
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IAGP |
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HPO |
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ORPHA:2044 |
NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409
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TINF2 |
TERF1 interacting nuclear factor 2 |
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IAGP |
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HPO |
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MIM:613990 |
NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663
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TONSL |
tonsoku like, DNA repair protein |
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IAGP |
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HPO |
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ORPHA:93357 |
NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440
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TREX1 |
three prime repair exonuclease 1 |
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IAGP |
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HPO |
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ORPHA:247691 |
NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
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TRPS1 |
transcriptional repressor GATA binding 1 |
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IAGP |
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HPO |
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MIM:190350 MIM:190351 ORPHA:502 ORPHA:77258 |
NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673
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TRPV4 |
transient receptor potential cation channel subfamily V member 4 |
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IAGP |
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HPO |
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MIM:617383 |
NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
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UFSP2 |
UFM1 specific peptidase 2 |
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IAGP |
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HPO |
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MIM:142669 |
NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,537...185,425,979
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UNC45A |
unc-45 myosin chaperone A |
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IAGP |
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HPO |
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MIM:619377 |
NCBI chr15:90,930,180...90,954,093
Ensembl chr15:90,930,180...90,954,093
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WNT5A |
Wnt family member 5A |
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IAGP |
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HPO |
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ORPHA:3107 |
NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539
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FGFR2 |
fibroblast growth factor receptor 2 |
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IAGP |
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HPO |
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MIM:614592 |
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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SLC26A2 |
solute carrier family 26 member 2 |
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IAGP |
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HPO |
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MIM:256050 |
NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
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ROR2 |
receptor tyrosine kinase like orphan receptor 2 |
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IAGP |
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HPO |
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MIM:268310 |
NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228
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ALPL |
alkaline phosphatase, biomineralization associated |
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IAGP |
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HPO |
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MIM:241500 MIM:241510 |
NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410
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CILK1 |
ciliogenesis associated kinase 1 |
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IAGP |
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HPO |
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MIM:612651 |
NCBI chr 6:53,001,303...53,061,824
Ensembl chr 6:53,001,279...53,061,824
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B3GALT6 |
beta-1,3-galactosyltransferase 6 |
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IAGP |
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HPO |
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MIM:609465 |
NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041
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FGFR3 |
fibroblast growth factor receptor 3 |
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IAGP |
ClinVar Annotator: match by term: Bowed humerus |
ClinVar |
PMID:1908846 PMID:7773297 PMID:8640234 PMID:8858131 PMID:9438390 PMID:9677066 PMID:10073901 PMID:10696568 PMID:11241532 PMID:11529856 PMID:12833394 PMID:15772091 PMID:16501574 PMID:16841094 PMID:18000976 PMID:18642369 PMID:20301540 PMID:20420824 PMID:22045636 PMID:24864036 PMID:25606676 PMID:25614871 PMID:25741868 PMID:26740388 PMID:28492532 PMID:29593476 PMID:31299979 PMID:36135330 PMID:36474027 More...
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NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
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FLNB |
filamin B |
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IAGP |
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HPO |
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MIM:272460 |
NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
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KIAA0753 |
KIAA0753 |
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IAGP |
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HPO |
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MIM:619479 |
NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711
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LAMA5 |
laminin subunit alpha 5 |
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IAGP |
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HPO |
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MIM:620076 |
NCBI chr20:62,309,065...62,367,312
Ensembl chr20:62,307,955...62,367,312
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LBR |
lamin B receptor |
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IAGP |
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HPO |
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MIM:618019 |
NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
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RNU4ATAC |
RNA, U4atac small nuclear |
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IAGP |
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HPO |
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MIM:210710 |
NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
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RSPO2 |
R-spondin 2 |
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IAGP |
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HPO |
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MIM:618022 |
NCBI chr 8:107,899,316...108,083,620
Ensembl chr 8:107,899,316...108,083,642
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SPARC |
secreted protein acidic and cysteine rich |
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IAGP |
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HPO |
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MIM:616507 |
NCBI chr 5:151,661,096...151,686,915
Ensembl chr 5:151,661,096...151,686,975
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KDELR2 |
KDEL endoplasmic reticulum protein retention receptor 2 |
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IAGP |
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HPO |
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MIM:619131 |
NCBI chr 7:6,461,089...6,484,152
Ensembl chr 7:6,445,953...6,484,190
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MBTPS2 |
membrane bound transcription factor peptidase, site 2 |
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IAGP |
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HPO |
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MIM:301014 |
NCBI chr X:21,839,617...21,885,423
Ensembl chr X:21,839,617...21,885,423
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SERPINF1 |
serpin family F member 1 |
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IAGP |
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HPO |
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MIM:613982 |
NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
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SP7 |
Sp7 transcription factor |
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IAGP |
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HPO |
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MIM:613849 |
NCBI chr12:53,326,575...53,344,793
Ensembl chr12:53,326,575...53,345,315
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TRIP11 |
thyroid hormone receptor interactor 11 |
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IAGP |
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HPO |
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MIM:200600 |
NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896
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ACP5 |
acid phosphatase 5, tartrate resistant |
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IAGP |
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HPO |
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ORPHA:1855 |
NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993
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ALPL |
alkaline phosphatase, biomineralization associated |
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IAGP |
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HPO |
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MIM:241500 MIM:241510 |
NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410
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ARCN1 |
archain 1 |
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IAGP |
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HPO |
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MIM:617164 |
NCBI chr11:118,572,409...118,603,033
Ensembl chr11:118,572,390...118,603,033
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CDC45 |
cell division cycle 45 |
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IAGP |
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HPO |
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MIM:617063 |
NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612
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CLCN5 |
chloride voltage-gated channel 5 |
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IAGP |
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HPO |
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MIM:300009 MIM:300554 |
NCBI chr X:49,922,596...50,099,230
Ensembl chr X:49,922,596...50,099,235
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CLDN16 |
claudin 16 |
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IAGP |
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HPO |
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MIM:248250 |
NCBI chr 3:190,290,361...190,412,138
Ensembl chr 3:190,322,541...190,412,138
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COL10A1 |
collagen type X alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:174 |
NCBI chr 6:116,118,909...116,217,144
Ensembl chr 6:116,118,909...116,158,747
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COL1A1 |
collagen type I alpha 1 chain |
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IAGP |
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HPO |
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MIM:114000 |
NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
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CRTAP |
cartilage associated protein |
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IAGP |
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HPO |
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MIM:610682 |
NCBI chr 3:33,114,014...33,147,773
Ensembl chr 3:33,114,014...33,147,773
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CYP27B1 |
cytochrome P450 family 27 subfamily B member 1 |
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IAGP |
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HPO |
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MIM:264700 |
NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986
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CYP2R1 |
cytochrome P450 family 2 subfamily R member 1 |
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IAGP |
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HPO |
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MIM:600081 |
NCBI chr11:14,877,440...14,892,443
Ensembl chr11:14,877,440...14,892,231
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CYP3A4 |
cytochrome P450 family 3 subfamily A member 4 |
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IAGP |
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HPO |
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MIM:619073 |
NCBI chr 7:99,756,967...99,784,184
Ensembl chr 7:99,756,960...99,784,248
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DDR2 |
discoidin domain receptor tyrosine kinase 2 |
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IAGP |
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HPO |
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MIM:271665 |
NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
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DDRGK1 |
DDRGK domain containing 1 |
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IAGP |
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HPO |
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ORPHA:93352 |
NCBI chr20:3,190,350...3,204,682
Ensembl chr20:3,190,350...3,204,685
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EHHADH |
enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase |
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IAGP |
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HPO |
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MIM:615605 |
NCBI chr 3:185,190,624...185,254,049
Ensembl chr 3:185,190,624...185,281,990
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FGF23 |
fibroblast growth factor 23 |
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IAGP |
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HPO |
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ORPHA:89937 |
NCBI chr12:4,368,227...4,379,712
Ensembl chr12:4,368,227...4,379,712
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FGFR2 |
fibroblast growth factor receptor 2 |
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IAGP |
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HPO |
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ORPHA:313855 |
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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FGFR3 |
fibroblast growth factor receptor 3 |
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IAGP |
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HPO |
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MIM:100800 ORPHA:15 |
NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
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FIBP |
FGF1 intracellular binding protein |
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IAGP |
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HPO |
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MIM:617107 |
NCBI chr11:65,883,740...65,888,471
Ensembl chr11:65,883,740...65,888,531
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HSPG2 |
heparan sulfate proteoglycan 2 |
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IAGP |
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HPO |
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MIM:255800 ORPHA:1865 |
NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
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KDELR2 |
KDEL endoplasmic reticulum protein retention receptor 2 |
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IAGP |
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HPO |
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MIM:619131 |
NCBI chr 7:6,461,089...6,484,152
Ensembl chr 7:6,445,953...6,484,190
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MATN3 |
matrilin 3 |
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IAGP |
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HPO |
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MIM:608728 ORPHA:156728 |
NCBI chr 2:19,992,052...20,012,668
Ensembl chr 2:19,992,052...20,012,668
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G |
MBTPS2 |
membrane bound transcription factor peptidase, site 2 |
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IAGP |
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HPO |
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MIM:301014 |
NCBI chr X:21,839,617...21,885,423
Ensembl chr X:21,839,617...21,885,423
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MMP13 |
matrix metallopeptidase 13 |
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IAGP |
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HPO |
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MIM:250400 |
NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732
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G |
MMP9 |
matrix metallopeptidase 9 |
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IAGP |
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HPO |
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MIM:613073 |
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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G |
MTAP |
methylthioadenosine phosphorylase |
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IAGP |
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HPO |
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MIM:112250 |
NCBI chr 9:21,802,636...21,941,115
Ensembl chr 9:21,802,636...21,937,651
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NF1 |
neurofibromin 1 |
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IAGP |
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HPO |
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ORPHA:97685 |
NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
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G |
PAPSS2 |
3'-phosphoadenosine 5'-phosphosulfate synthase 2 |
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IAGP |
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HPO |
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MIM:612847 |
NCBI chr10:87,659,878...87,747,705
Ensembl chr10:87,659,613...87,747,705
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G |
PCYT1A |
phosphate cytidylyltransferase 1A, choline |
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IAGP |
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HPO |
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MIM:608940 ORPHA:85167 |
NCBI chr 3:196,234,368...196,287,726
Ensembl chr 3:196,214,222...196,287,957
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G |
PHEX |
phosphate regulating endopeptidase X-linked |
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IAGP |
ClinVar Annotator: match by term: Bowing of the legs |
ClinVar HPO |
PMID:25741868 |
MIM:307800 ORPHA:89936 |
NCBI chr X:22,032,325...22,251,310
Ensembl chr X:22,032,325...22,494,713
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PHLDB1 |
pleckstrin homology like domain family B member 1 |
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IAGP |
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HPO |
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MIM:620639 |
NCBI chr11:118,606,436...118,658,028
Ensembl chr11:118,606,440...118,658,031
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G |
PTCHD1-AS |
PTCHD1 antisense RNA (head to head) |
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IAGP |
ClinVar Annotator: match by term: Bowing of the legs |
ClinVar |
PMID:25741868 |
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NCBI chr X:22,193,005...23,293,146
Ensembl chr X:22,191,895...22,235,358
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SERPINF1 |
serpin family F member 1 |
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IAGP |
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HPO |
|
MIM:613982 |
NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
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G |
SLC34A1 |
solute carrier family 34 member 1 |
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IAGP |
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HPO |
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ORPHA:157215 |
NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848
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G |
SLC34A3 |
solute carrier family 34 member 3 |
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IAGP |
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HPO |
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MIM:241530 ORPHA:157215 |
NCBI chr 9:137,229,730...137,236,555
Ensembl chr 9:137,230,757...137,236,555
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G |
SP7 |
Sp7 transcription factor |
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IAGP |
|
HPO |
|
MIM:613849 |
NCBI chr12:53,326,575...53,344,793
Ensembl chr12:53,326,575...53,345,315
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G |
TRIP11 |
thyroid hormone receptor interactor 11 |
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IAGP |
|
HPO |
|
MIM:200600 |
NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896
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G |
UFSP2 |
UFM1 specific peptidase 2 |
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IAGP |
|
HPO |
|
MIM:617974 |
NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,537...185,425,979
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G |
VDR |
vitamin D receptor |
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IAGP |
|
HPO |
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MIM:277440 |
NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
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ANO5 |
anoctamin 5 |
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IAGP |
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HPO |
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MIM:166260 ORPHA:53697 |
NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567
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ATP7A |
ATPase copper transporting alpha |
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IAGP |
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HPO |
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ORPHA:565 |
NCBI chr X:77,910,693...78,050,395
Ensembl chr X:77,910,690...78,050,395
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B3GALT6 |
beta-1,3-galactosyltransferase 6 |
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IAGP |
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HPO |
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MIM:615349 ORPHA:536467 |
NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041
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B4GALT7 |
beta-1,4-galactosyltransferase 7 |
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IAGP |
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HPO |
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MIM:130070 |
NCBI chr 5:177,600,132...177,610,330
Ensembl chr 5:177,600,132...177,610,330
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B9D1 |
B9 domain containing 1 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193
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B9D2 |
B9 domain containing 2 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165
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BCR |
BCR activator of RhoGEF and GTPase |
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IAGP |
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HPO |
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ORPHA:261330 |
NCBI chr22:23,180,509...23,318,037
Ensembl chr22:23,179,704...23,318,037
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BMPR1B |
bone morphogenetic protein receptor type 1B |
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IAGP |
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HPO |
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ORPHA:2098 |
NCBI chr 4:94,757,955...95,158,450
Ensembl chr 4:94,757,955...95,158,448
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CC2D2A |
coiled-coil and C2 domain containing 2A |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552
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CCDC134 |
coiled-coil domain containing 134 |
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IAGP |
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HPO |
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MIM:619795 |
NCBI chr22:41,800,679...41,832,164
Ensembl chr22:41,800,679...41,832,164
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CEP290 |
centrosomal protein 290 |
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IAGP |
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HPO |
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MIM:611134 ORPHA:564 |
NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
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CLCN7 |
chloride voltage-gated channel 7 |
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IAGP |
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HPO |
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ORPHA:667 |
NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077
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COL2A1 |
collagen type II alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:85166 |
NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
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CREB3L1 |
cAMP responsive element binding protein 3 like 1 |
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IAGP |
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HPO |
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MIM:616229 |
NCBI chr11:46,277,662...46,321,409
Ensembl chr11:46,277,662...46,321,409
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CRKL |
CRK like proto-oncogene, adaptor protein |
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IAGP |
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HPO |
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ORPHA:261330 |
NCBI chr22:20,917,407...20,953,747
Ensembl chr22:20,917,407...20,953,747
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CRTAP |
cartilage associated protein |
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IAGP |
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HPO |
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ORPHA:2050 |
NCBI chr 3:33,114,014...33,147,773
Ensembl chr 3:33,114,014...33,147,773
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CSPP1 |
centrosome and spindle pole associated protein 1 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778
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CTC1 |
CST telomere replication complex component 1 |
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IAGP |
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HPO |
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MIM:612199 |
NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058
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DYNC2H1 |
dynein cytoplasmic 2 heavy chain 1 |
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IAGP |
ClinVar Annotator: match by term: Diaphyseal bowing of long bones ClinVar Annotator: match by term: Bowing of the long bones |
ClinVar |
PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:28492532 PMID:29068549 More...
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NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863
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EFEMP2 |
EGF containing fibulin extracellular matrix protein 2 |
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IAGP |
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HPO |
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MIM:614437 |
NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,873,592
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ESCO2 |
establishment of sister chromatid cohesion N-acetyltransferase 2 |
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IAGP |
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HPO |
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ORPHA:3103 |
NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640
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EXT1 |
exostosin glycosyltransferase 1 |
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IAGP |
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HPO |
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ORPHA:321 |
NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826
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EXT2 |
exostosin glycosyltransferase 2 |
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IAGP |
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HPO |
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ORPHA:321 |
NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962
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FAM20C |
FAM20C golgi associated secretory pathway kinase |
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IAGP |
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HPO |
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MIM:259775 |
NCBI chr 7:192,571...260,772
Ensembl chr 7:192,571...260,772
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FBN1 |
fibrillin 1 |
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IAGP |
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HPO |
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ORPHA:2462 |
NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
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FBN2 |
fibrillin 2 |
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IAGP |
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HPO |
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MIM:121050 |
NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185
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FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP |
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HPO |
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MIM:166250 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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FGFR2 |
fibroblast growth factor receptor 2 |
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IAGP |
DNA:missense mutations:cds:p.M391R, p.Y381D |
RGD |
PMID:22387015 |
RGD:12801468 |
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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FGFR3 |
fibroblast growth factor receptor 3 |
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IAGP |
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HPO |
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MIM:187600 ORPHA:1860 ORPHA:429 |
NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
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FKBP10 |
FKBP prolyl isomerase 10 |
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IAGP |
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HPO |
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ORPHA:2771 |
NCBI chr17:41,813,004...41,823,213
Ensembl chr17:41,812,680...41,823,213
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FLNA |
filamin A |
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IAGP |
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HPO |
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MIM:304120 MIM:305620 ORPHA:2484 ORPHA:90650 ORPHA:90652 |
NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
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GDF5 |
growth differentiation factor 5 |
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IAGP |
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HPO |
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ORPHA:2098 |
NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
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HBB |
hemoglobin subunit beta |
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IAGP |
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HPO |
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ORPHA:231214 ORPHA:231226 |
NCBI chr11:5,225,464...5,227,071
Ensembl chr11:5,225,464...5,229,395
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HSPG2 |
heparan sulfate proteoglycan 2 |
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IAGP |
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HPO |
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MIM:224410 MIM:255800 ORPHA:800 |
NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
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IL6ST |
interleukin 6 cytokine family signal transducer |
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IAGP |
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HPO |
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MIM:619751 |
NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022
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LIFR |
LIF receptor subunit alpha |
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IAGP |
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HPO |
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MIM:601559 ORPHA:3206 |
NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354
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MAPK1 |
mitogen-activated protein kinase 1 |
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IAGP |
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HPO |
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ORPHA:261330 |
NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
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MKS1 |
MKS transition zone complex subunit 1 |
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IAGP |
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HPO |
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MIM:249000 ORPHA:564 |
NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
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MMP13 |
matrix metallopeptidase 13 |
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IAGP |
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HPO |
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ORPHA:1040 ORPHA:2501 |
NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732
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MMP9 |
matrix metallopeptidase 9 |
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IAGP |
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HPO |
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ORPHA:1040 |
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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NFIX |
nuclear factor I X |
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IAGP |
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HPO |
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ORPHA:561 |
NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796
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NOTCH2 |
notch receptor 2 |
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IAGP |
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HPO |
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ORPHA:955 |
NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779
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NPR2 |
natriuretic peptide receptor 2 |
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IAGP |
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HPO |
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ORPHA:40 |
NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732
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P4HB |
prolyl 4-hydroxylase subunit beta |
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IAGP |
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HPO |
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ORPHA:2050 |
NCBI chr17:81,843,166...81,860,535
Ensembl chr17:81,843,159...81,860,856
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PCYT1A |
phosphate cytidylyltransferase 1A, choline |
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IAGP |
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HPO |
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ORPHA:85167 |
NCBI chr 3:196,234,368...196,287,726
Ensembl chr 3:196,214,222...196,287,957
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PDE4D |
phosphodiesterase 4D |
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IAGP |
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HPO |
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ORPHA:950 |
NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120
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PHEX |
phosphate regulating endopeptidase X-linked |
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IAGP |
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HPO |
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ORPHA:89936 |
NCBI chr X:22,032,325...22,251,310
Ensembl chr X:22,032,325...22,494,713
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PLOD2 |
procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 |
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IAGP |
ClinVar Annotator: match by term: Bowing of the long bones |
ClinVar HPO |
PMID:22689593 PMID:25238597 PMID:25741868 PMID:28492532 PMID:29177700 PMID:29178448 PMID:32612477 More...
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ORPHA:2771 |
NCBI chr 3:146,069,440...146,161,184
Ensembl chr 3:146,035,139...146,163,725
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POR |
cytochrome p450 oxidoreductase |
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IAGP |
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HPO |
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ORPHA:95699 |
NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
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PPIB |
peptidylprolyl isomerase B |
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IAGP |
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HPO |
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MIM:259440 |
NCBI chr15:64,155,817...64,163,022
Ensembl chr15:64,155,740...64,163,134
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PRKAR1A |
protein kinase cAMP-dependent type I regulatory subunit alpha |
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IAGP |
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HPO |
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ORPHA:950 |
NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
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PTH1R |
parathyroid hormone 1 receptor |
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IAGP |
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HPO |
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MIM:156400 ORPHA:50945 |
NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799
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PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
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IAGP |
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HPO |
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MIM:156250 |
NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
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PYCR1 |
pyrroline-5-carboxylate reductase 1 |
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IAGP |
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HPO |
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MIM:612940 |
NCBI chr17:81,932,391...81,937,300
Ensembl chr17:81,932,384...81,942,412
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RECQL4 |
RecQ like helicase 4 |
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IAGP |
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HPO |
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ORPHA:1225 |
NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
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RMRP |
RNA component of mitochondrial RNA processing endoribonuclease |
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IAGP |
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HPO |
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ORPHA:175 |
NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017
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RNU4ATAC |
RNA, U4atac small nuclear |
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IAGP |
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HPO |
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MIM:210710 |
NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
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RPGRIP1 |
RPGR interacting protein 1 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301
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RPGRIP1L |
RPGRIP1 like |
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IAGP |
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HPO |
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MIM:611561 ORPHA:564 |
NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938
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SEC24D |
SEC24 homolog D, COPII coat complex component |
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IAGP |
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HPO |
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ORPHA:2050 |
NCBI chr 4:118,722,823...118,836,126
Ensembl chr 4:118,722,823...118,838,683
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SERPINH1 |
serpin family H member 1 |
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IAGP |
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HPO |
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MIM:613848 |
NCBI chr11:75,562,253...75,572,783
Ensembl chr11:75,562,056...75,572,783
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SH3PXD2B |
SH3 and PX domains 2B |
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IAGP |
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HPO |
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MIM:249420 |
NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,525
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SHOX |
SHOX homeobox |
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IAGP |
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HPO |
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ORPHA:2632 |
NCBI chr Y:624,344...659,411 NCBI chr X:624,344...659,411
Ensembl chr Y:624,344...659,411 Ensembl chr X:624,344...659,411
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SKI |
SKI proto-oncogene |
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IAGP |
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HPO |
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ORPHA:2462 |
NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213
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SLC26A2 |
solute carrier family 26 member 2 |
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IAGP |
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HPO |
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ORPHA:628 |
NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
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SLC2A2 |
solute carrier family 2 member 2 |
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IAGP |
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HPO |
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ORPHA:2088 |
NCBI chr 3:170,996,347...171,026,720
Ensembl chr 3:170,996,347...171,026,743
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SMOC1 |
SPARC related modular calcium binding 1 |
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IAGP |
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HPO |
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ORPHA:1106 |
NCBI chr14:69,879,416...70,032,366
Ensembl chr14:69,854,131...70,032,366
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SNX10 |
sorting nexin 10 |
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IAGP |
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HPO |
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ORPHA:667 |
NCBI chr 7:26,291,862...26,374,383
Ensembl chr 7:26,291,862...26,374,383
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SOX9 |
SRY-box transcription factor 9 |
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IAGP |
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HPO |
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MIM:114290 ORPHA:140 |
NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
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SP7 |
Sp7 transcription factor |
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IAGP |
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HPO |
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MIM:613849 |
NCBI chr12:53,326,575...53,344,793
Ensembl chr12:53,326,575...53,345,315
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TBXAS1 |
thromboxane A synthase 1 |
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IAGP |
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HPO |
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ORPHA:1802 |
NCBI chr 7:139,778,242...140,020,293
Ensembl chr 7:139,777,051...140,020,325
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G |
TCIRG1 |
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 |
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IAGP |
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HPO |
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ORPHA:667 |
NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
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G |
TCTN1 |
tectonic family member 1 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr12:110,614,129...110,649,430
Ensembl chr12:110,614,027...110,663,431
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G |
TCTN2 |
tectonic family member 2 |
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IAGP |
|
HPO |
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ORPHA:564 |
NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399
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G |
TCTN3 |
tectonic family member 3 |
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IAGP |
|
HPO |
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MIM:614815 ORPHA:564 |
NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
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TENT5A |
terminal nucleotidyltransferase 5A |
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IAGP |
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HPO |
|
MIM:617952 |
NCBI chr 6:81,745,730...81,752,681
Ensembl chr 6:81,491,439...81,752,774
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TMEM107 |
transmembrane protein 107 |
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IAGP |
|
HPO |
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ORPHA:564 |
NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399
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TMEM216 |
transmembrane protein 216 |
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IAGP |
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HPO |
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MIM:603194 ORPHA:564 |
NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866
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TMEM231 |
transmembrane protein 231 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289
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TMEM237 |
transmembrane protein 237 |
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IAGP |
|
HPO |
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ORPHA:564 |
NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570
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TMEM67 |
transmembrane protein 67 |
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IAGP |
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HPO |
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ORPHA:564 |
NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
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TNFRSF11A |
TNF receptor superfamily member 11a |
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IAGP |
|
HPO |
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MIM:174810 MIM:602080 ORPHA:2801 |
NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,287...62,391,288
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G |
TNFRSF11B |
TNF receptor superfamily member 11b |
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IAGP |
|
HPO |
|
MIM:239000 ORPHA:2801 |
NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885
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G |
TNFSF11 |
TNF superfamily member 11 |
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IAGP |
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HPO |
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ORPHA:667 |
NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013
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G |
TRIP11 |
thyroid hormone receptor interactor 11 |
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IAGP |
|
HPO |
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ORPHA:166272 |
NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896
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G |
TRPV4 |
transient receptor potential cation channel subfamily V member 4 |
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IAGP |
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HPO |
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MIM:168400 |
NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
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TXNDC15 |
thioredoxin domain containing 15 |
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IAGP |
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HPO |
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MIM:619879 ORPHA:564 |
NCBI chr 5:134,873,770...134,901,635
Ensembl chr 5:134,874,371...134,901,635
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WDR35 |
WD repeat domain 35 |
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IAGP |
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HPO |
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MIM:614091 |
NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
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WNT7A |
Wnt family member 7A |
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IAGP |
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HPO |
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ORPHA:2879 |
NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071
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GNAS |
GNAS complex locus |
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IAGP |
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HPO |
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ORPHA:79443 |
NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
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B3GAT3 |
beta-1,3-glucuronyltransferase 3 |
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IAGP |
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HPO |
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MIM:245600 |
NCBI chr11:62,615,296...62,621,986
Ensembl chr11:62,615,296...62,622,154
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CHST3 |
carbohydrate sulfotransferase 3 |
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IAGP |
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HPO |
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MIM:245600 |
NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558
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IFT122 |
intraflagellar transport 122 |
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IAGP |
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HPO |
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MIM:218330 |
NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510
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AMMECR1 |
AMMECR nuclear protein 1 |
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IAGP |
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HPO |
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MIM:300990 |
NCBI chr X:110,194,186...110,440,233
Ensembl chr X:110,194,186...110,440,318
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B3GALT6 |
beta-1,3-galactosyltransferase 6 |
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IAGP |
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HPO |
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MIM:271640 MIM:609465 |
NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041
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BGN |
biglycan |
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IAGP |
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HPO |
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MIM:300989 |
NCBI chr X:153,494,980...153,509,546
Ensembl chr X:153,494,980...153,509,546
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CREBBP |
CREB binding protein |
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IAGP |
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HPO |
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MIM:180849 ORPHA:353277 ORPHA:353281 |
NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
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DLK1 |
delta like non-canonical Notch ligand 1 |
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IAGP |
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HPO |
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ORPHA:96334 |
NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224
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EP300 |
E1A binding protein p300 |
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IAGP |
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HPO |
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MIM:180849 ORPHA:353284 |
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
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EXOSC2 |
exosome component 2 |
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IAGP |
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HPO |
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MIM:617763 |
NCBI chr 9:130,693,760...130,704,894
Ensembl chr 9:130,693,721...130,707,288
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FBXO11 |
F-box protein 11 |
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IAGP |
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HPO |
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MIM:618089 |
NCBI chr 2:47,806,920...47,906,498
Ensembl chr 2:47,789,316...47,906,498
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FLNA |
filamin A |
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IAGP |
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HPO |
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MIM:311300 |
NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
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FLNB |
filamin B |
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IAGP |
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HPO |
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ORPHA:503 |
NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
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GATAD2B |
GATA zinc finger domain containing 2B |
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IAGP |
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HPO |
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ORPHA:363686 |
NCBI chr 1:153,804,725...153,922,972
Ensembl chr 1:153,789,030...153,923,360
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GPC4 |
glypican 4 |
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IAGP |
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HPO |
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MIM:301026 ORPHA:2662 |
NCBI chr X:133,300,103...133,415,489
Ensembl chr X:133,300,103...133,415,489
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HS2ST1 |
heparan sulfate 2-O-sulfotransferase 1 |
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IAGP |
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HPO |
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MIM:619194 |
NCBI chr 1:86,914,635...87,109,982
Ensembl chr 1:86,914,635...87,109,982
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KIF22 |
kinesin family member 22 |
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IAGP |
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HPO |
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MIM:603546 |
NCBI chr16:29,790,751...29,805,385
Ensembl chr16:29,790,727...29,805,385
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MEG3 |
maternally expressed 3 |
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IAGP |
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HPO |
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ORPHA:96334 |
NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,206...100,861,031
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RNU4ATAC |
RNA, U4atac small nuclear |
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IAGP |
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HPO |
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ORPHA:2636 |
NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
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RTL1 |
retrotransposon Gag like 1 |
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IAGP |
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HPO |
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ORPHA:96334 |
NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722
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SETD5 |
SET domain containing 5 |
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IAGP |
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HPO |
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MIM:615761 ORPHA:404440 |
NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,615...9,479,240
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SMARCA2 |
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 |
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IAGP |
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HPO |
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MIM:601358 ORPHA:3051 |
NCBI chr 9:2,015,347...2,193,620
Ensembl chr 9:1,980,290...2,193,624
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WDR19 |
WD repeat domain 19 |
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IAGP |
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HPO |
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MIM:614378 |
NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
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WLS |
Wnt ligand secretion mediator |
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IAGP |
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HPO |
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MIM:619648 |
NCBI chr 1:68,098,459...68,232,546
Ensembl chr 1:68,098,473...68,233,120
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FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP |
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HPO |
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MIM:123150 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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FGFR2 |
fibroblast growth factor receptor 2 |
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IAGP |
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HPO |
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MIM:123150 |
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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HOXD13 |
homeobox D13 |
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IAGP |
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HPO |
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MIM:113200 |
NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
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FGFR2 |
fibroblast growth factor receptor 2 |
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IAGP |
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HPO |
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MIM:101200 |
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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FLNA |
filamin A |
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IAGP |
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HPO |
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MIM:311300 |
NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
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G |
GNAS |
GNAS complex locus |
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IAGP |
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HPO |
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ORPHA:79443 ORPHA:79444 |
NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
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HOXD13 |
homeobox D13 |
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IAGP |
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HPO |
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MIM:113200 |
NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944
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HS2ST1 |
heparan sulfate 2-O-sulfotransferase 1 |
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IAGP |
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HPO |
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MIM:619194 |
NCBI chr 1:86,914,635...87,109,982
Ensembl chr 1:86,914,635...87,109,982
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MED25 |
mediator complex subunit 25 |
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IAGP |
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HPO |
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ORPHA:464738 |
NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383
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ABCC9 |
ATP binding cassette subfamily C member 9 |
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IAGP |
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HPO |
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ORPHA:1517 |
NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543
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BMP2 |
bone morphogenetic protein 2 |
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IAGP |
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HPO |
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ORPHA:261295 |
NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246
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CREBBP |
CREB binding protein |
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IAGP |
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HPO |
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MIM:180849 |
NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
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CTCF |
CCCTC-binding factor |
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IAGP |
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HPO |
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ORPHA:363611 |
NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177
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DACT1 |
dishevelled binding antagonist of beta catenin 1 |
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IAGP |
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HPO |
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ORPHA:857 |
NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321
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EFNB1 |
ephrin B1 |
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IAGP |
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HPO |
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ORPHA:1520 |
NCBI chr X:68,829,021...68,842,160
Ensembl chr X:68,829,021...68,842,160
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EP300 |
E1A binding protein p300 |
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IAGP |
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HPO |
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MIM:180849 |
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
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FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP |
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HPO |
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ORPHA:93258 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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FGFR2 |
fibroblast growth factor receptor 2 |
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IAGP |
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HPO |
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ORPHA:1540 ORPHA:168624 ORPHA:93258 ORPHA:93259 ORPHA:93260 |
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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FLI1 |
Fli-1 proto-oncogene, ETS transcription factor |
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IAGP |
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HPO |
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ORPHA:2308 |
NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267
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GATA4 |
GATA binding protein 4 |
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IAGP |
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HPO |
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ORPHA:251071 |
NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002
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GLI3 |
GLI family zinc finger 3 |
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IAGP |
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HPO |
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MIM:175700 ORPHA:380 |
NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
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GPC4 |
glypican 4 |
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IAGP |
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HPO |
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ORPHA:2662 |
NCBI chr X:133,300,103...133,415,489
Ensembl chr X:133,300,103...133,415,489
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KCNJ8 |
potassium inwardly rectifying channel subfamily J member 8 |
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IAGP |
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HPO |
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ORPHA:1517 |
NCBI chr12:21,764,955...21,774,706
Ensembl chr12:21,764,955...21,775,600
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NXN |
nucleoredoxin |
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IAGP |
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HPO |
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ORPHA:1507 |
NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776
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ROR2 |
receptor tyrosine kinase like orphan receptor 2 |
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IAGP |
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HPO |
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ORPHA:1507 |
NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228
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SALL1 |
spalt like transcription factor 1 |
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IAGP |
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HPO |
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ORPHA:857 |
NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,334
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SALL4 |
spalt like transcription factor 4 |
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IAGP |
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HPO |
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ORPHA:959 |
NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
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G |
SATB2 |
SATB homeobox 2 |
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IAGP |
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HPO |
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ORPHA:251019 |
NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266
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SUMF1 |
sulfatase modifying factor 1 |
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IAGP |
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HPO |
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ORPHA:585 |
NCBI chr 3:4,034,486...4,467,269
Ensembl chr 3:3,700,814...4,467,273
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BGN |
biglycan |
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IAGP |
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HPO |
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MIM:300106 |
NCBI chr X:153,494,980...153,509,546
Ensembl chr X:153,494,980...153,509,546
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GLB1 |
galactosidase beta 1 |
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IAGP |
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HPO |
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ORPHA:79255 |
NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202
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TFE3 |
transcription factor binding to IGHM enhancer 3 |
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IAGP |
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HPO |
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MIM:301066 |
NCBI chr X:49,028,726...49,043,357
Ensembl chr X:49,028,726...49,043,410
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WDR19 |
WD repeat domain 19 |
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IAGP |
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HPO |
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MIM:614376 |
NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
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BGN |
biglycan |
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IAGP |
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HPO |
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MIM:300106 |
NCBI chr X:153,494,980...153,509,546
Ensembl chr X:153,494,980...153,509,546
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COL11A1 |
collagen type XI alpha 1 chain |
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IAGP |
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HPO |
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MIM:228520 |
NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872
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COL1A1 |
collagen type I alpha 1 chain |
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IAGP |
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HPO |
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MIM:166210 |
NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
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COL1A2 |
collagen type I alpha 2 chain |
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IAGP |
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HPO |
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MIM:166210 |
NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
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COL2A1 |
collagen type II alpha 1 chain |
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IAGP |
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HPO |
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MIM:200610 |
NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
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DDR2 |
discoidin domain receptor tyrosine kinase 2 |
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IAGP |
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HPO |
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MIM:271665 |
NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
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GJA1 |
gap junction protein alpha 1 |
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IAGP |
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HPO |
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MIM:257850 |
NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
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HHAT |
hedgehog acyltransferase |
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IAGP |
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HPO |
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ORPHA:1422 |
NCBI chr 1:210,327,328...210,676,290
Ensembl chr 1:210,328,252...210,676,296
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G |
HSPG2 |
heparan sulfate proteoglycan 2 |
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IAGP |
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HPO |
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ORPHA:1865 |
NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
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IHH |
Indian hedgehog signaling molecule |
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IAGP |
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HPO |
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MIM:112500 |
NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921
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COL10A1 |
collagen type X alpha 1 chain |
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IAGP |
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HPO |
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MIM:156500 |
NCBI chr 6:116,118,909...116,217,144
Ensembl chr 6:116,118,909...116,158,747
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G |
KNSTRN |
kinetochore localized astrin (SPAG5) binding protein |
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IAGP |
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HPO |
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ORPHA:221139 |
NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,288
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NEPRO |
nucleolus and neural progenitor protein |
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IAGP |
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HPO |
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MIM:618853 |
NCBI chr 3:113,002,444...113,019,671
Ensembl chr 3:113,002,444...113,019,861
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G |
PIK3CD |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta |
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IAGP |
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HPO |
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ORPHA:221139 |
NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114
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ZNF141 |
zinc finger protein 141 |
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IAGP |
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HPO |
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MIM:615226 |
NCBI chr 4:337,814...384,868
Ensembl chr 4:337,814...384,868
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G |
ADAMTS10 |
ADAM metallopeptidase with thrombospondin type 1 motif 10 |
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IAGP |
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HPO |
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MIM:277600 |
NCBI chr19:8,580,240...8,610,715
Ensembl chr19:8,580,240...8,610,735
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G |
EXTL3 |
exostosin like glycosyltransferase 3 |
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IAGP |
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HPO |
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ORPHA:508533 |
NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561
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G |
FBN1 |
fibrillin 1 |
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IAGP |
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HPO |
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MIM:608328 |
NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
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G |
FLNA |
filamin A |
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IAGP |
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HPO |
|
MIM:305620 |
NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
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G |
BGN |
biglycan |
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IAGP |
|
HPO |
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MIM:300106 |
NCBI chr X:153,494,980...153,509,546
Ensembl chr X:153,494,980...153,509,546
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G |
DDR2 |
discoidin domain receptor tyrosine kinase 2 |
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IAGP |
|
HPO |
|
MIM:271665 |
NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
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G |
DNMT3A |
DNA methyltransferase 3 alpha |
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IAGP |
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HPO |
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MIM:618724 |
NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590
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G |
FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP |
|
HPO |
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MIM:166250 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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G |
NPR2 |
natriuretic peptide receptor 2 |
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IAGP |
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HPO |
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MIM:602875 |
NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732
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G |
PDE4D |
phosphodiesterase 4D |
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IAGP |
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HPO |
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ORPHA:439822 |
NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120
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G |
PRKG2 |
protein kinase cGMP-dependent 2 |
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IAGP |
|
HPO |
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MIM:619636 |
NCBI chr 4:81,087,370...81,217,836
Ensembl chr 4:81,087,370...81,215,222
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G |
PUF60 |
poly(U) binding splicing factor 60 |
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IAGP |
|
HPO |
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ORPHA:508498 |
NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709
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G |
RAB33B |
RAB33B, member RAS oncogene family |
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IAGP |
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HPO |
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MIM:615222 |
NCBI chr 4:139,438,376...139,476,609
Ensembl chr 4:139,453,232...139,476,609
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SLC26A2 |
solute carrier family 26 member 2 |
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IAGP |
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HPO |
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ORPHA:56304 |
NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
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ARX |
aristaless related homeobox |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr X:25,003,694...25,015,965
Ensembl chr X:25,003,694...25,016,420
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BMPR1A |
bone morphogenetic protein receptor type 1A |
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IAGP |
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HPO |
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ORPHA:79076 |
NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825
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CASK |
calcium/calmodulin dependent serine protein kinase |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr X:41,514,934...41,923,554
Ensembl chr X:41,514,934...41,923,554
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CDKL5 |
cyclin dependent kinase like 5 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr X:18,425,608...18,653,629
Ensembl chr X:18,425,583...18,653,629
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DMXL2 |
Dmx like 2 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833
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GNAO1 |
G protein subunit alpha o1 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr16:56,191,489...56,357,444
Ensembl chr16:56,189,660...56,357,444
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GRIN1 |
glutamate ionotropic receptor NMDA type subunit 1 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756
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GRM7 |
glutamate metabotropic receptor 7 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr 3:6,861,115...7,741,533
Ensembl chr 3:6,770,001...7,741,533
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KCNA1 |
potassium voltage-gated channel subfamily A member 1 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr12:4,909,905...4,918,256
Ensembl chr12:4,909,905...4,918,256
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NEUROD2 |
neuronal differentiation 2 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr17:39,603,768...39,607,920
Ensembl chr17:39,603,536...39,609,777
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PIGP |
phosphatidylinositol glycan anchor biosynthesis class P |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr21:37,065,364...37,073,071
Ensembl chr21:37,062,846...37,073,170
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PIGQ |
phosphatidylinositol glycan anchor biosynthesis class Q |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr16:569,968...584,109
Ensembl chr16:566,995...584,109
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PNKP |
polynucleotide kinase 3'-phosphatase |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351
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PTEN |
phosphatase and tensin homolog |
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IAGP |
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HPO |
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ORPHA:79076 |
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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SCN1B |
sodium voltage-gated channel beta subunit 1 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449
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SCN2A |
sodium voltage-gated channel alpha subunit 2 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310
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SIK1 |
salt inducible kinase 1 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr21:43,414,483...43,427,131
Ensembl chr21:43,414,483...43,427,131
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SLC25A22 |
solute carrier family 25 member 22 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr11:790,475...798,281
Ensembl chr11:790,475...798,281
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SLC32A1 |
solute carrier family 32 member 1 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr20:38,724,486...38,729,372
Ensembl chr20:38,724,486...38,729,372
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TRIM8 |
tripartite motif containing 8 |
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IAGP |
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HPO |
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ORPHA:1934 |
NCBI chr10:102,644,479...102,658,319
Ensembl chr10:102,642,503...102,662,789
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WDR19 |
WD repeat domain 19 |
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IAGP |
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HPO |
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MIM:614378 |
NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
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CDKL5 |
cyclin dependent kinase like 5 |
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IAGP |
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HPO |
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ORPHA:505652 |
NCBI chr X:18,425,608...18,653,629
Ensembl chr X:18,425,583...18,653,629
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COL10A1 |
collagen type X alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:174 |
NCBI chr 6:116,118,909...116,217,144
Ensembl chr 6:116,118,909...116,158,747
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FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP |
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HPO |
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MIM:123150 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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FGFR2 |
fibroblast growth factor receptor 2 |
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IAGP |
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HPO |
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MIM:123150 |
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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ACAN |
aggrecan |
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IAGP |
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HPO |
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MIM:612813 ORPHA:171866 |
NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353
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ACTL6A |
actin like 6A |
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IAGP |
ClinVar Annotator: match by term: Broad thumb |
ClinVar |
PMID:19215055 PMID:25741868 PMID:28649782 PMID:31994175 |
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NCBI chr 3:179,562,926...179,588,407
Ensembl chr 3:179,562,886...179,588,407
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ADNP |
activity dependent neuroprotector homeobox |
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IAGP |
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HPO |
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ORPHA:404448 |
NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437
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ALX4 |
ALX homeobox 4 |
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IAGP |
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HPO |
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ORPHA:60015 |
NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139
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BICRA |
BRD4 interacting chromatin remodeling complex associated protein |
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IAGP |
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HPO |
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MIM:619325 |
NCBI chr19:47,608,196...47,703,277
Ensembl chr19:47,608,196...47,703,277
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BMP2 |
bone morphogenetic protein 2 |
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IAGP |
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HPO |
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ORPHA:261295 |
NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246
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BMPR1A |
bone morphogenetic protein receptor type 1A |
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IAGP |
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HPO |
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ORPHA:79076 |
NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,755,786...86,932,825
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BPTF |
bromodomain PHD finger transcription factor |
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IAGP |
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HPO |
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ORPHA:529962 |
NCBI chr17:67,825,503...67,984,378
Ensembl chr17:67,825,503...67,984,378
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CBFB |
core-binding factor subunit beta |
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IAGP |
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HPO |
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MIM:620099 |
NCBI chr16:67,029,149...67,101,058
Ensembl chr16:67,028,984...67,101,058
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COL2A1 |
collagen type II alpha 1 chain |
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IAGP |
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HPO |
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MIM:271700 |
NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
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CREBBP |
CREB binding protein |
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IAGP |
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HPO |
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MIM:180849 ORPHA:353277 ORPHA:353281 |
NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
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DACT1 |
dishevelled binding antagonist of beta catenin 1 |
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IAGP |
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HPO |
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ORPHA:857 |
NCBI chr14:58,634,061...58,648,321
Ensembl chr14:58,633,967...58,648,321
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DHX30 |
DExH-box helicase 30 |
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IAGP |
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HPO |
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MIM:617804 |
NCBI chr 3:47,803,138...47,850,193
Ensembl chr 3:47,802,909...47,850,195
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DNM1L |
dynamin 1 like |
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IAGP |
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HPO |
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MIM:614388 |
NCBI chr12:32,679,301...32,745,650
Ensembl chr12:32,679,200...32,745,650
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DVL1 |
dishevelled segment polarity protein 1 |
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IAGP |
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HPO |
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MIM:180700 MIM:616331 |
NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
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DVL3 |
dishevelled segment polarity protein 3 |
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IAGP |
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HPO |
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MIM:616894 |
NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614
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EED |
embryonic ectoderm development |
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IAGP |
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HPO |
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MIM:617561 |
NCBI chr11:86,244,753...86,287,615
Ensembl chr11:86,201,212...86,279,807
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EP300 |
E1A binding protein p300 |
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IAGP |
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HPO |
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MIM:180849 MIM:613684 ORPHA:353284 |
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
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EXOSC2 |
exosome component 2 |
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IAGP |
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HPO |
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MIM:617763 |
NCBI chr 9:130,693,760...130,704,894
Ensembl chr 9:130,693,721...130,707,288
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EZH2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
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IAGP |
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HPO |
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MIM:277590 ORPHA:3447 |
NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321
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FGF9 |
fibroblast growth factor 9 |
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IAGP |
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HPO |
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MIM:612961 ORPHA:3237 |
NCBI chr13:21,671,073...21,704,498
Ensembl chr13:21,671,073...21,704,498
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FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP |
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HPO |
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MIM:101600 MIM:166250 ORPHA:93258 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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FGFR2 |
fibroblast growth factor receptor 2 |
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IAGP |
DNA:SNPs, missense mutation:splice junction, CDS:multiple |
HPO RGD |
PMID:7795583 |
MIM:101200 MIM:101600 ORPHA:794 ORPHA:87 ORPHA:93258 ORPHA:93259 ORPHA:93260, RGD:155663661 |
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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FGFR3 |
fibroblast growth factor receptor 3 |
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IAGP |
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HPO |
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MIM:602849 ORPHA:794 |
NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
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FLNA |
filamin A |
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IAGP |
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HPO |
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MIM:304120 ORPHA:1826 |
NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
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FLNB |
filamin B |
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IAGP |
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HPO |
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ORPHA:503 |
NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
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G6PC3 |
glucose-6-phosphatase catalytic | |