Term: | Abnormality of the humerus |
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Accession: | HP:0003063
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browse the term
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Definition: | An abnormality of the humerus (i.e., upper arm bone). |
Synonyms: | exact_synonym: | Abnormality of the humeri |
| alt_id: | HP:0002988 |
| xref: | UMLS:C4021742 |
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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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MIM:127300 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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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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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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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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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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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:10471491 PMID:10696568 PMID:11241532 PMID:11529856 PMID:12833394 PMID:15772091 PMID:16841094 PMID:18642369 PMID:20301540 PMID:20420824 PMID:22045636 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29593476 PMID:31299979 PMID:36135330 PMID:36474027 More...
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NCBI chr 4:1,793,293...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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GNAS |
GNAS complex locus |
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IAGP |
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HPO |
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ORPHA:94089 |
NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
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STX16 |
syntaxin 16 |
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IAGP |
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HPO |
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ORPHA:94089 |
NCBI chr20:58,651,283...58,679,526
Ensembl chr20:58,651,272...58,679,526
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IHH |
Indian hedgehog signaling molecule |
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IAGP |
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HPO |
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MIM:607778 |
NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921
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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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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 |
NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321
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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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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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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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CYP26B1 |
cytochrome P450 family 26 subfamily B member 1 |
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IAGP |
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HPO |
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MIM:614416 |
NCBI chr 2:72,129,238...72,147,862
Ensembl chr 2:72,129,238...72,147,862
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DONSON |
DNA replication fork stabilization factor DONSON |
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IAGP |
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HPO |
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MIM:251230 |
NCBI chr21:33,577,551...33,588,684
Ensembl chr21:33,559,542...33,588,706
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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 |
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 |
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:101200 MIM:101600 MIM:207410 |
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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GDF5 |
growth differentiation factor 5 |
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IAGP |
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HPO |
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MIM:610017 |
NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
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NOG |
noggin |
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IAGP |
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HPO |
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MIM:186570 |
NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
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POR |
cytochrome p450 oxidoreductase |
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IAGP |
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HPO |
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MIM:201750 MIM:207410 ORPHA:95699 |
NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
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PTDSS1 |
phosphatidylserine synthase 1 |
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IAGP |
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HPO |
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MIM:151050 |
NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995
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TBX15 |
T-box transcription factor 15 |
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IAGP |
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HPO |
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MIM:260660 ORPHA:93333 |
NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556
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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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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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FZD2 |
frizzled class receptor 2 |
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IAGP |
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HPO |
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MIM:164745 |
NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262
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GPC6 |
glypican 6 |
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IAGP |
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HPO |
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MIM:258315 ORPHA:93329 |
NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020
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DYM |
dymeclin |
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IAGP |
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HPO |
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MIM:223800 |
NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347
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PRKG2 |
protein kinase cGMP-dependent 2 |
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IAGP |
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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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GSC |
goosecoid homeobox |
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IAGP |
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HPO |
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MIM:602471 |
NCBI chr14:94,768,223...94,770,113
Ensembl chr14:94,768,223...94,770,113
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AGPS |
alkylglycerone phosphate synthase |
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IAGP |
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HPO |
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MIM:600121 |
NCBI chr 2:177,392,773...177,543,834
Ensembl chr 2:177,392,746...177,567,024
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ALG12 |
ALG12 alpha-1,6-mannosyltransferase |
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IAGP |
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HPO |
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MIM:607143 |
NCBI chr22:49,859,311...49,918,438
Ensembl chr22:49,900,229...49,918,438
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ATP7A |
ATPase copper transporting alpha |
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IAGP |
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HPO |
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MIM:304150 |
NCBI chr X:77,910,693...78,050,395
Ensembl chr X:77,910,690...78,050,395
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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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FANCB |
FA complementation group B |
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IAGP |
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HPO |
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MIM:314390 |
NCBI chr X:14,689,524...14,873,069
Ensembl chr X:14,690,388...14,873,255
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FLNA |
filamin A |
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IAGP |
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HPO |
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MIM:309350 |
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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MIM:108720 |
NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
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FZD2 |
frizzled class receptor 2 |
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IAGP |
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HPO |
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MIM:164745 ORPHA:93328 |
NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262
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GDF5 |
growth differentiation factor 5 |
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IAGP |
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HPO |
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MIM:200700 |
NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
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GNPAT |
glyceronephosphate O-acyltransferase |
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IAGP |
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HPO |
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MIM:222765 |
NCBI chr 1:231,241,212...231,277,973
Ensembl chr 1:231,241,207...231,277,973
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GPC6 |
glypican 6 |
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IAGP |
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HPO |
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MIM:258315 |
NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020
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GSC |
goosecoid homeobox |
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IAGP |
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HPO |
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MIM:602471 |
NCBI chr14:94,768,223...94,770,113
Ensembl chr14:94,768,223...94,770,113
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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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IHH |
Indian hedgehog signaling molecule |
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IAGP |
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HPO |
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MIM:607778 |
NCBI chr 2:219,054,424...219,060,921
Ensembl chr 2:219,054,424...219,060,921
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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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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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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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MTHFS |
methenyltetrahydrofolate synthetase |
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IAGP |
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HPO |
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MIM:618367 |
NCBI chr15:79,843,547...79,897,285
Ensembl chr15:79,833,585...79,897,379
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MYSM1 |
Myb like, SWIRM and MPN domains 1 |
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IAGP |
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HPO |
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ORPHA:508542 |
NCBI chr 1:58,654,743...58,700,062
Ensembl chr 1:58,643,440...58,700,090
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NOG |
noggin |
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IAGP |
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HPO |
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MIM:186500 |
NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
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PEX5 |
peroxisomal biogenesis factor 5 |
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IAGP |
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HPO |
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MIM:616716 |
NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574
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POLR3A |
RNA polymerase III subunit A |
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IAGP |
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HPO |
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MIM:264090 ORPHA:3455 |
NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522
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RECQL4 |
RecQ like helicase 4 |
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IAGP |
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HPO |
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MIM:218600 |
NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
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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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SALL4 |
spalt like transcription factor 4 |
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IAGP |
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HPO |
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MIM:607323 ORPHA:959 |
NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
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SNRPB |
small nuclear ribonucleoprotein polypeptides B and B1 |
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IAGP |
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HPO |
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MIM:117650 |
NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853
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SUCLG1 |
succinate-CoA ligase GDP/ADP-forming subunit alpha |
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IAGP |
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HPO |
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ORPHA:17 |
NCBI chr 2:84,423,528...84,459,280
Ensembl chr 2:84,423,528...84,460,045
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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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TGDS |
TDP-glucose 4,6-dehydratase |
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IAGP |
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HPO |
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MIM:616145 |
NCBI chr13:94,574,054...94,596,273
Ensembl chr13:94,574,054...94,596,242
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TNFRSF11B |
TNF receptor superfamily member 11b |
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IAGP |
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HPO |
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MIM:239000 |
NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885
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ZIC3 |
Zic family member 3 |
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IAGP |
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HPO |
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MIM:314390 |
NCBI chr X:137,566,127...137,577,691
Ensembl chr X:137,566,127...137,577,691
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GNPAT |
glyceronephosphate O-acyltransferase |
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IAGP |
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HPO |
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MIM:222765 |
NCBI chr 1:231,241,212...231,277,973
Ensembl chr 1:231,241,207...231,277,973
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FLNB |
filamin B |
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IAGP |
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HPO |
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MIM:150250 |
NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
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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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MIM:252500 |
NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959
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LYSET |
lysosomal enzyme trafficking factor |
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IAGP |
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HPO |
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MIM:619345 |
NCBI chr14:93,184,974...93,188,463
Ensembl chr14:93,184,951...93,188,463
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Term paths to the root
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