Term: | High, narrow palate |
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Accession: | HP:0002705
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browse the term
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Definition: | The presence of a high and narrow palate. |
Synonyms: | exact_synonym: | Gothic palate; High vaulted palate; Narrow and high arched palate; Narrow, high-arched palate; Narrow, high-arched roof of mouth; Narrow, highly arched palate; Narrow, highly arched roof of mouth |
| xref: | UMLS:C1837404 |
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AARS1 |
alanyl-tRNA synthetase 1 |
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IAGP |
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HPO |
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ORPHA:33364 |
NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707
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ABCC6 |
ATP binding cassette subfamily C member 6 |
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IAGP |
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HPO |
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OMIM:177850 |
NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
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ACTA1 |
actin alpha 1, skeletal muscle |
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IAGP |
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HPO |
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ORPHA:171433 |
NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104
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ACTA2 |
actin alpha 2, smooth muscle |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339
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ADNP |
activity dependent neuroprotector homeobox |
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IAGP |
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HPO |
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OMIM:615873 |
NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437
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AFF4 |
ALF transcription elongation factor 4 |
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IAGP |
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HPO |
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OMIM:616368 |
NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634
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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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ANTXR1 |
ANTXR cell adhesion molecule 1 |
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IAGP |
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HPO |
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OMIM:230740 |
NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327
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APC |
APC regulator of WNT signaling pathway |
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IAGP |
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HPO |
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ORPHA:3258 |
NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
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ARID2 |
AT-rich interaction domain 2 |
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IAGP |
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HPO |
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OMIM:617808 |
NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040
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ARL6 |
ADP ribosylation factor like GTPase 6 |
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IAGP |
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HPO |
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OMIM:209900 |
NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229
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ASXL3 |
ASXL transcriptional regulator 3 |
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IAGP |
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HPO |
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ORPHA:352577 |
NCBI chr18:33,578,219...33,751,195
Ensembl chr18:33,578,219...33,751,195
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ATN1 |
atrophin 1 |
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IAGP |
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HPO |
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OMIM:618494 |
NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321
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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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BBS1 |
Bardet-Biedl syndrome 1 |
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IAGP |
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HPO |
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OMIM:209900 |
NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613
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BCOR |
BCL6 corepressor |
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IAGP |
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HPO |
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OMIM:309800 |
NCBI chr X:40,051,246...40,177,329
Ensembl chr X:40,049,815...40,177,329
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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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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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BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
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IAGP |
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HPO |
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OMIM:163950 |
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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CARS1 |
cysteinyl-tRNA synthetase 1 |
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IAGP |
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HPO |
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ORPHA:33364 |
NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613
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CCDC22 |
coiled-coil domain containing 22 |
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IAGP |
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HPO |
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ORPHA:7 |
NCBI chr X:49,235,470...49,250,520
Ensembl chr X:49,235,470...49,250,520
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CCDC28B |
coiled-coil domain containing 28B |
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IAGP |
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HPO |
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OMIM:209900 |
NCBI chr 1:32,196,011...32,205,387
Ensembl chr 1:32,200,595...32,205,453
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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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CDK10 |
cyclin dependent kinase 10 |
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IAGP |
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HPO |
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OMIM:617694 |
NCBI chr16:89,686,689...89,696,354
Ensembl chr16:89,680,737...89,696,354
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CDK5RAP2 |
CDK5 regulatory subunit associated protein 2 |
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IAGP |
DNA:mutations:splice junction:c.383+1G>C,c.4005-9A>G(human) |
RGD |
PMID:26436113 |
RGD:13450906 |
NCBI chr 9:120,388,875...120,580,167
Ensembl chr 9:120,388,875...120,580,170
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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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CNTN1 |
contactin 1 |
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IAGP |
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HPO |
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OMIM:612540 |
NCBI chr12:40,692,439...41,072,415
Ensembl chr12:40,692,439...41,072,415
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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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OMIM:604841 |
NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872
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COL12A1 |
collagen type XII alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:536516 |
NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267
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COL3A1 |
collagen type III alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:286 |
NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
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COPB1 |
COPI coat complex subunit beta 1 |
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IAGP |
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HPO |
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OMIM:619255 |
NCBI chr11:14,457,512...14,499,811
Ensembl chr11:14,443,440...14,500,027
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CPT2 |
carnitine palmitoyltransferase 2 |
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IAGP |
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HPO |
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ORPHA:228308 |
NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197
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CREBBP |
CREB binding protein |
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IAGP |
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HPO |
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OMIM:180849 |
NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
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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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DDX59 |
DEAD-box helicase 59 |
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IAGP |
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HPO |
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ORPHA:2919 |
NCBI chr 1:200,640,805...200,669,907
Ensembl chr 1:200,623,896...200,669,907
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DIS3L2 |
DIS3 like 3'-5' exoribonuclease 2 |
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IAGP |
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HPO |
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ORPHA:2849 |
NCBI chr 2:231,961,713...232,344,350
Ensembl chr 2:231,961,245...232,344,350
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DPM1 |
dolichyl-phosphate mannosyltransferase subunit 1, catalytic |
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IAGP |
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HPO |
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OMIM:608799 ORPHA:79322 |
NCBI chr20:50,934,855...50,958,564
Ensembl chr20:50,934,867...50,959,140
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DPYSL5 |
dihydropyrimidinase like 5 |
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IAGP |
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HPO |
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ORPHA:7 |
NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351
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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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ELN |
elastin |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
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EP300 |
E1A binding protein p300 |
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IAGP |
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HPO |
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OMIM:180849 |
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
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ERCC2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
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IAGP |
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HPO |
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ORPHA:33364 |
NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
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ERCC3 |
ERCC excision repair 3, TFIIH core complex helicase subunit |
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IAGP |
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HPO |
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ORPHA:33364 |
NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166
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ERMARD |
ER membrane associated RNA degradation |
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IAGP |
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HPO |
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ORPHA:75857 |
NCBI chr 6:169,751,306...169,781,600
Ensembl chr 6:169,751,622...169,781,600
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FBN1 |
fibrillin 1 |
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IAGP |
ClinVar Annotator: match by term: Narrow, highly arched roof of mouth |
ClinVar HPO |
PMID:25741868 PMID:28492532 |
OMIM:616914 ORPHA:2462 ORPHA:284979 ORPHA:91387 |
NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
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FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP |
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HPO |
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OMIM:190440 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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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:53271 |
NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
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FIG4 |
FIG4 phosphoinositide 5-phosphatase |
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IAGP |
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HPO |
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ORPHA:3472 |
NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098
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FOXE3 |
forkhead box E3 |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr 1:47,416,285...47,418,052
Ensembl chr 1:47,416,285...47,418,052
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FOXP2 |
forkhead box P2 |
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IAGP |
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HPO |
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ORPHA:209908 |
NCBI chr 7:114,086,327...114,693,765
Ensembl chr 7:114,086,327...114,693,772
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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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GIPC1 |
GIPC PDZ domain containing family member 1 |
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IAGP |
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HPO |
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ORPHA:98897 |
NCBI chr19:14,477,762...14,496,127
Ensembl chr19:14,477,760...14,496,149
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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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GNE |
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase |
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IAGP |
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HPO |
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ORPHA:3166 |
NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042
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GPC3 |
glypican 3 |
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IAGP |
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HPO |
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ORPHA:373 |
NCBI chr X:133,535,745...133,985,594
Ensembl chr X:133,535,745...133,987,100
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GPC4 |
glypican 4 |
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IAGP |
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HPO |
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ORPHA:373 |
NCBI chr X:133,300,103...133,415,489
Ensembl chr X:133,300,103...133,415,489
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GRB10 |
growth factor receptor bound protein 10 |
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IAGP |
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HPO |
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ORPHA:96182 |
NCBI chr 7:50,590,068...50,793,453
Ensembl chr 7:50,590,063...50,793,462
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GTF2E2 |
general transcription factor IIE subunit 2 |
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IAGP |
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HPO |
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ORPHA:33364 |
NCBI chr 8:30,578,318...30,658,236
Ensembl chr 8:30,578,318...30,658,236
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GTF2H5 |
general transcription factor IIH subunit 5 |
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IAGP |
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HPO |
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ORPHA:33364 |
NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344
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H4C5 |
H4 clustered histone 5 |
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IAGP |
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HPO |
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OMIM:619950 |
NCBI chr 6:26,204,610...26,205,021
Ensembl chr 6:26,204,610...26,205,021
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HECW2 |
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 |
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IAGP |
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HPO |
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OMIM:617268 |
NCBI chr 2:196,194,072...196,593,554
Ensembl chr 2:196,189,099...196,593,684
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HEY2 |
hes related family bHLH transcription factor with YRPW motif 2 |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr 6:125,749,632...125,761,269
Ensembl chr 6:125,747,664...125,761,269
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HNRNPK |
heterogeneous nuclear ribonucleoprotein K |
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IAGP |
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HPO |
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ORPHA:352665 ORPHA:453504 |
NCBI chr 9:83,968,083...83,980,615
Ensembl chr 9:83,968,083...83,980,631
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IFT122 |
intraflagellar transport 122 |
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IAGP |
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HPO |
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OMIM:218330 |
NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510
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INTU |
inturned planar cell polarity protein |
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IAGP |
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HPO |
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OMIM:617926 |
NCBI chr 4:127,632,957...127,726,737
Ensembl chr 4:127,623,271...127,726,737
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IPO8 |
importin 8 |
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IAGP |
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HPO |
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OMIM:619472 |
NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869
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KCNK9 |
potassium two pore domain channel subfamily K member 9 |
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IAGP |
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HPO |
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ORPHA:166108 |
NCBI chr 8:139,600,838...139,703,123
Ensembl chr 8:139,600,838...139,704,109
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KIF26A |
kinesin family member 26A |
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IAGP |
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HPO |
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OMIM:620156 |
NCBI chr14:104,138,587...104,180,894
Ensembl chr14:104,136,454...104,180,894
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KLHL41 |
kelch like family member 41 |
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IAGP |
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HPO |
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ORPHA:171433 |
NCBI chr 2:169,509,702...169,526,258
Ensembl chr 2:169,509,702...169,526,258
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LOX |
lysyl oxidase |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,413
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LRP12 |
LDL receptor related protein 12 |
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IAGP |
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HPO |
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ORPHA:98897 |
NCBI chr 8:104,489,236...104,589,258
Ensembl chr 8:104,489,231...104,589,258
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LRP4 |
LDL receptor related protein 4 |
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IAGP |
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HPO |
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ORPHA:3258 |
NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642
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MAP2K1 |
mitogen-activated protein kinase kinase 1 |
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IAGP |
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HPO |
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OMIM:163950 |
NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656
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MAP3K7 |
mitogen-activated protein kinase kinase kinase 7 |
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IAGP |
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HPO |
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ORPHA:3238 |
NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086
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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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MARS1 |
methionyl-tRNA synthetase 1 |
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IAGP |
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HPO |
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OMIM:619692 |
NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569
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MAT2A |
methionine adenosyltransferase 2A |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr 2:85,539,168...85,545,281
Ensembl chr 2:85,539,168...85,545,281
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MCM3AP |
minichromosome maintenance complex component 3 associated protein |
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IAGP |
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HPO |
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OMIM:618124 |
NCBI chr21:46,235,133...46,286,265
Ensembl chr21:46,235,133...46,286,297
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MED12L |
mediator complex subunit 12L |
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IAGP |
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HPO |
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OMIM:618872 |
NCBI chr 3:151,085,664...151,436,653
Ensembl chr 3:151,085,286...151,437,072
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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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MEGF8 |
multiple EGF like domains 8 |
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IAGP |
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HPO |
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OMIM:614976 |
NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769
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MFAP5 |
microfibril associated protein 5 |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr12:8,645,943...8,662,826
Ensembl chr12:8,637,346...8,662,888
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MPLKIP |
M-phase specific PLK1 interacting protein |
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IAGP |
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HPO |
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ORPHA:33364 |
NCBI chr 7:40,126,027...40,134,622
Ensembl chr 7:40,126,027...40,134,622
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MUSK |
muscle associated receptor tyrosine kinase |
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IAGP |
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HPO |
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OMIM:208150 |
NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558
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MYH11 |
myosin heavy chain 11 |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438
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MYLK |
myosin light chain kinase |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332
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MYMX |
myomixer, myoblast fusion factor |
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IAGP |
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HPO |
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OMIM:619941 |
NCBI chr 6:44,192,721...44,218,234
Ensembl chr 6:44,216,926...44,218,234
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NAA10 |
N-alpha-acetyltransferase 10, NatA catalytic subunit |
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IAGP |
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HPO |
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OMIM:309800 ORPHA:276432 |
NCBI chr X:153,929,225...153,935,037
Ensembl chr X:153,929,225...153,935,080
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NDUFAF6 |
NADH:ubiquinone oxidoreductase complex assembly factor 6 |
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IAGP |
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HPO |
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OMIM:618239 |
NCBI chr 8:94,895,799...95,118,496
Ensembl chr 8:94,895,533...95,116,455
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NEB |
nebulin |
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IAGP |
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HPO |
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ORPHA:171433 |
NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487
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NFIX |
nuclear factor I X |
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IAGP |
ClinVar Annotator: match by term: High, narrow palate |
ClinVar |
PMID:25741868 |
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NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796
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NIPBL |
NIPBL cohesin loading factor |
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IAGP |
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HPO |
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OMIM:122470 |
NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413
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NONO |
non-POU domain containing octamer binding |
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IAGP |
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HPO |
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OMIM:300967 ORPHA:466791 |
NCBI chr X:71,283,635...71,301,168
Ensembl chr X:71,254,814...71,301,522
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NOTCH2NLC |
notch 2 N-terminal like C |
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IAGP |
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HPO |
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ORPHA:98897 |
NCBI chr 1:149,390,621...149,471,833
Ensembl chr 1:149,390,621...149,471,833
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NOTCH3 |
notch receptor 3 |
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IAGP |
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HPO |
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ORPHA:2789 |
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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OMIM:117550 |
NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
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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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PCDHGC4 |
protocadherin gamma subfamily C, 4 |
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IAGP |
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HPO |
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OMIM:619880 |
NCBI chr 5:141,485,030...141,512,975
Ensembl chr 5:141,484,997...141,512,975
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PCLO |
piccolo presynaptic cytomatrix protein |
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IAGP |
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HPO |
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OMIM:608027 |
NCBI chr 7:82,754,012...83,162,884
Ensembl chr 7:82,754,012...83,162,930
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PEX1 |
peroxisomal biogenesis factor 1 |
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IAGP |
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HPO |
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OMIM:214100 |
NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520
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PEX5 |
peroxisomal biogenesis factor 5 |
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IAGP |
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HPO |
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OMIM:202370 |
NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574
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PIEZO2 |
piezo type mechanosensitive ion channel component 2 |
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IAGP |
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HPO |
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OMIM:248700 |
NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569
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PIGT |
phosphatidylinositol glycan anchor biosynthesis class T |
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IAGP |
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HPO |
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ORPHA:369837 |
NCBI chr20:45,416,141...45,426,241
Ensembl chr20:45,416,084...45,456,934
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PLOD1 |
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 |
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IAGP |
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HPO |
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ORPHA:1900 |
NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538
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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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PRKG1 |
protein kinase cGMP-dependent 1 |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr10:50,990,888...52,298,350
Ensembl chr10:50,990,888...52,298,423
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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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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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PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
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IAGP |
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HPO |
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OMIM:163950 |
NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
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RECQL4 |
RecQ like helicase 4 |
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IAGP |
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HPO |
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OMIM:266280 |
NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
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RET |
ret proto-oncogene |
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IAGP |
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HPO |
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OMIM:162300 |
NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
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RILPL1 |
Rab interacting lysosomal protein like 1 |
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IAGP |
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HPO |
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ORPHA:98897 |
NCBI chr12:123,470,054...123,533,719
Ensembl chr12:123,470,054...123,533,719
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RNF113A |
ring finger protein 113A |
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IAGP |
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HPO |
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ORPHA:33364 |
NCBI chr X:119,870,475...119,871,733
Ensembl chr X:119,870,475...119,871,733
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RUNX2 |
RUNX family transcription factor 2 |
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IAGP |
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HPO |
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OMIM:119600 ORPHA:1452 |
NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349
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SCARF2 |
scavenger receptor class F member 2 |
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IAGP |
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HPO |
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OMIM:600920 |
NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,826
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SIN3A |
SIN3 transcription regulator family member A |
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IAGP |
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HPO |
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OMIM:613406 |
NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842
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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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SLC25A12 |
solute carrier family 25 member 12 |
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IAGP |
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HPO |
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OMIM:612949 |
NCBI chr 2:171,783,405...171,894,244
Ensembl chr 2:171,783,405...171,999,859
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SLC25A24 |
solute carrier family 25 member 24 |
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IAGP |
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HPO |
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OMIM:612289 |
NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849
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SLC6A17 |
solute carrier family 6 member 17 |
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IAGP |
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HPO |
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ORPHA:457212 |
NCBI chr 1:110,150,494...110,202,202
Ensembl chr 1:110,150,494...110,202,202
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SMAD2 |
SMAD family member 2 |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146
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SMAD3 |
SMAD family member 3 |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173
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SMAD4 |
SMAD family member 4 |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
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SMARCA2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
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IAGP |
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HPO |
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OMIM:601358 ORPHA:3051 |
NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624
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SMG9 |
SMG9 nonsense mediated mRNA decay factor |
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IAGP |
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HPO |
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OMIM:616920 |
NCBI chr19:43,727,983...43,754,962
Ensembl chr19:43,727,983...43,754,962
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SMS |
spermine synthase |
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IAGP |
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HPO |
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OMIM:309583 |
NCBI chr X:21,940,709...21,994,837
Ensembl chr X:21,940,709...21,994,837
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SPEN |
spen family transcriptional repressor |
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IAGP |
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HPO |
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OMIM:619312 |
NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456
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SPRED1 |
sprouty related EVH1 domain containing 1 |
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IAGP |
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HPO |
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OMIM:611431 |
NCBI chr15:38,252,836...38,357,249
Ensembl chr15:38,252,836...38,357,249
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SPRED2 |
sprouty related EVH1 domain containing 2 |
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IAGP |
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HPO |
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OMIM:619745 |
NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637
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SPTBN1 |
spectrin beta, non-erythrocytic 1 |
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IAGP |
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HPO |
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OMIM:619475 |
NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446
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TAF1 |
TATA-box binding protein associated factor 1 |
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IAGP |
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HPO |
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OMIM:300966 |
NCBI chr X:71,366,357...71,530,525
Ensembl chr X:71,366,136...71,532,374
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TAOK1 |
TAO kinase 1 |
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IAGP |
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HPO |
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OMIM:619575 |
NCBI chr17:29,390,363...29,551,903
Ensembl chr17:29,390,363...29,551,903
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TARS1 |
threonyl-tRNA synthetase 1 |
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IAGP |
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HPO |
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ORPHA:33364 |
NCBI chr 5:33,440,696...33,468,091
Ensembl chr 5:33,440,696...33,468,091
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TBCK |
TBC1 domain containing kinase |
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IAGP |
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HPO |
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ORPHA:488632 |
NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683
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TBX1 |
T-box transcription factor 1 |
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IAGP |
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HPO |
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OMIM:188400 |
NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
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TCTN3 |
tectonic family member 3 |
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IAGP |
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HPO |
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ORPHA:2753 |
NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143
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TGFB2 |
transforming growth factor beta 2 |
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IAGP |
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HPO |
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OMIM:614816 ORPHA:91387 |
NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619
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TGFB3 |
transforming growth factor beta 3 |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011
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TGFBR1 |
transforming growth factor beta receptor 1 |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192
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TGFBR2 |
transforming growth factor beta receptor 2 |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249
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THSD4 |
thrombospondin type 1 domain containing 4 |
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IAGP |
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HPO |
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ORPHA:91387 |
NCBI chr15:71,096,894...71,783,383
Ensembl chr15:71,096,952...71,783,383
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TPM3 |
tropomyosin 3 |
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IAGP |
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HPO |
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ORPHA:171433 |
NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648
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UBE3B |
ubiquitin protein ligase E3B |
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IAGP |
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HPO |
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ORPHA:2707 |
NCBI chr12:109,477,634...109,547,829
Ensembl chr12:109,477,402...109,536,705
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UFC1 |
ubiquitin-fold modifier conjugating enzyme 1 |
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IAGP |
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HPO |
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OMIM:618076 |
NCBI chr 1:161,153,978...161,158,856
Ensembl chr 1:161,152,776...161,158,856
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VAC14 |
VAC14 component of PIKFYVE complex |
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IAGP |
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HPO |
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ORPHA:3472 |
NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160
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VPS13B |
vacuolar protein sorting 13 homolog B |
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IAGP |
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HPO |
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OMIM:216550 ORPHA:193 |
NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580
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VPS35L |
VPS35 endosomal protein sorting factor like |
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IAGP |
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HPO |
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ORPHA:7 |
NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793
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WASHC5 |
WASH complex subunit 5 |
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IAGP |
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HPO |
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ORPHA:7 |
NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819
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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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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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Term paths to the root
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