Term: | Abnormal pons morphology |
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Accession: | HP:0007361
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browse the term
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Definition: | A structural abnormality of the pons. |
Comment: | The pons is the portion of the brainstem superior to the medulla oblongata. |
Synonyms: | exact_synonym: | Abnormality of the pons |
| xref: | UMLS:C4024905 |
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DAG1 |
dystroglycan 1 |
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IAGP |
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HPO |
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ORPHA:370997 |
NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618
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FKRP |
fukutin related protein |
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IAGP |
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HPO |
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ORPHA:370968 |
NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988
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GALC |
galactosylceramidase |
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IAGP |
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HPO |
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ORPHA:206448 |
NCBI chr14:87,933,014...87,993,667
Ensembl chr14:87,837,820...87,993,665
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GMPPB |
GDP-mannose pyrophosphorylase B |
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IAGP |
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HPO |
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ORPHA:370968 |
NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973
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IDH1 |
isocitrate dehydrogenase (NADP(+)) 1 |
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IAGP |
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HPO |
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ORPHA:99646 |
NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
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LARGE1 |
LARGE xylosyl- and glucuronyltransferase 1 |
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IAGP |
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HPO |
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ORPHA:370968 |
NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841
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PIGA |
phosphatidylinositol glycan anchor biosynthesis class A |
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IAGP |
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HPO |
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OMIM:300868 |
NCBI chr X:15,319,451...15,335,554
Ensembl chr X:15,319,452...15,335,554
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POMT1 |
protein O-mannosyltransferase 1 |
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IAGP |
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HPO |
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ORPHA:370968 |
NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806
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POMT2 |
protein O-mannosyltransferase 2 |
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IAGP |
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HPO |
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ORPHA:370968 |
NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883
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RANBP2 |
RAN binding protein 2 |
susceptibility |
IAGP |
DNA:missense mutation:cds:p.T585M |
RGD |
PMID:19118815 |
RGD:9835035 |
NCBI chr 2:108,719,482...109,842,301
Ensembl chr 2:108,719,482...108,785,810
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SACS |
sacsin molecular chaperone |
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IAGP |
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HPO |
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ORPHA:98 |
NCBI chr13:23,328,830...23,433,702
Ensembl chr13:23,288,689...23,433,763
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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:370348 |
NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267
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AHI1 |
Abelson helper integration site 1 |
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IAGP |
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HPO |
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OMIM:608629 |
NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434
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ARL3 |
ADP ribosylation factor like GTPase 3 |
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IAGP |
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HPO |
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OMIM:618161 |
NCBI chr10:102,673,731...102,714,397
Ensembl chr10:102,673,731...102,714,397
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CLCN3 |
chloride voltage-gated channel 3 |
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IAGP |
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HPO |
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OMIM:619512 |
NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,633...169,723,673
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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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OMIM:615636 ORPHA:397715 |
NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778
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INPP5E |
inositol polyphosphate-5-phosphatase E |
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IAGP |
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HPO |
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OMIM:213300 |
NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845
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KIAA0586 |
KIAA0586 |
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IAGP |
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HPO |
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ORPHA:397715 |
NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297
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LAMA1 |
laminin subunit alpha 1 |
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IAGP |
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HPO |
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ORPHA:370022 |
NCBI chr18:6,941,742...7,117,797
Ensembl chr18:6,941,742...7,117,797
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NPHP1 |
nephrocystin 1 |
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IAGP |
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HPO |
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OMIM:609583 |
NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066
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TMEM216 |
transmembrane protein 216 |
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IAGP |
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HPO |
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OMIM:608091 |
NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866
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TMEM67 |
transmembrane protein 67 |
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IAGP |
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HPO |
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OMIM:610688 |
NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
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ADGRG1 |
adhesion G protein-coupled receptor G1 |
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IAGP |
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HPO |
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OMIM:606854 ORPHA:101070 |
NCBI chr16:57,619,738...57,665,567
Ensembl chr16:57,610,652...57,665,580
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AGTPBP1 |
ATP/GTP binding carboxypeptidase 1 |
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IAGP |
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HPO |
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OMIM:618276 ORPHA:2254 |
NCBI chr 9:85,546,539...85,805,483
Ensembl chr 9:85,546,539...85,742,029
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AHCY |
adenosylhomocysteinase |
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IAGP |
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HPO |
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ORPHA:88618 |
NCBI chr20:34,231,981...34,311,836
Ensembl chr20:34,280,268...34,311,802
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ALG3 |
ALG3 alpha-1,3- mannosyltransferase |
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IAGP |
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HPO |
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ORPHA:79321 |
NCBI chr 3:184,242,301...184,249,525
Ensembl chr 3:184,242,301...184,249,548
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AMPD2 |
adenosine monophosphate deaminase 2 |
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IAGP |
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HPO |
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OMIM:615809 |
NCBI chr 1:109,619,837...109,632,055
Ensembl chr 1:109,616,104...109,632,051
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APC2 |
APC regulator of WNT signaling pathway 2 |
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IAGP |
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HPO |
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OMIM:618677 |
NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244
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ARHGEF2 |
Rho/Rac guanine nucleotide exchange factor 2 |
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IAGP |
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HPO |
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OMIM:617523 |
NCBI chr 1:155,946,854...155,979,617
Ensembl chr 1:155,946,851...156,007,070
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ASNS |
asparagine synthetase (glutamine-hydrolyzing) |
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IAGP |
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HPO |
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OMIM:615574 |
NCBI chr 7:97,851,677...97,928,441
Ensembl chr 7:97,851,677...97,872,542
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ATXN8 |
ataxin 8 |
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IAGP |
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HPO |
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ORPHA:98760 |
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ATXN8OS |
ATXN8 opposite strand lncRNA |
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IAGP |
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HPO |
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ORPHA:98760 |
NCBI chr13:70,107,421...70,171,738
Ensembl chr13:70,107,213...70,171,738
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B3GALNT2 |
beta-1,3-N-acetylgalactosaminyltransferase 2 |
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IAGP |
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HPO |
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OMIM:615181 |
NCBI chr 1:235,439,796...235,504,452
Ensembl chr 1:235,447,190...235,504,452
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BRF1 |
BRF1 RNA polymerase III transcription initiation factor subunit |
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IAGP |
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HPO |
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OMIM:616202 ORPHA:444072 |
NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589
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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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OMIM:300749 |
NCBI chr X:41,514,934...41,923,554
Ensembl chr X:41,514,934...41,923,554
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CDON |
cell adhesion associated, oncogene regulated |
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IAGP |
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HPO |
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ORPHA:280195 |
NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335
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CLCN3 |
chloride voltage-gated channel 3 |
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IAGP |
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HPO |
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OMIM:619512 |
NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,633...169,723,673
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CRIPTO |
cripto, EGF-CFC family member |
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IAGP |
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HPO |
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ORPHA:280195 |
NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457
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DCC |
DCC netrin 1 receptor |
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IAGP |
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HPO |
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OMIM:617542 |
NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,899
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DEPDC5 |
DEP domain containing 5, GATOR1 subcomplex subunit |
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IAGP |
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HPO |
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OMIM:620504 |
NCBI chr22:31,753,968...31,908,033
Ensembl chr22:31,753,867...31,908,033
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DISP1 |
dispatched RND transporter family member 1 |
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IAGP |
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HPO |
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ORPHA:280195 |
NCBI chr 1:222,815,039...223,005,995
Ensembl chr 1:222,815,022...223,005,995
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DLL1 |
delta like canonical Notch ligand 1 |
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IAGP |
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HPO |
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ORPHA:280195 |
NCBI chr 6:170,282,206...170,291,078
Ensembl chr 6:170,282,206...170,306,565
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DOCK7 |
dedicator of cytokinesis 7 |
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IAGP |
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HPO |
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OMIM:615859 ORPHA:411986 |
NCBI chr 1:62,454,726...62,688,386
Ensembl chr 1:62,454,298...62,688,386
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EIF4A2 |
eukaryotic translation initiation factor 4A2 |
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IAGP |
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HPO |
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OMIM:620455 |
NCBI chr 3:186,783,577...186,789,897
Ensembl chr 3:186,783,205...186,789,897
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EPG5 |
ectopic P-granules 5 autophagy tethering factor |
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IAGP |
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HPO |
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ORPHA:1493 |
NCBI chr18:45,800,581...45,967,329
Ensembl chr18:45,800,581...45,967,329
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EXOSC1 |
exosome component 1 |
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IAGP |
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HPO |
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OMIM:619304 |
NCBI chr10:97,435,909...97,446,006
Ensembl chr10:97,435,909...97,446,017
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EXOSC3 |
exosome component 3 |
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IAGP |
ClinVar Annotator: match by term: Hypoplasia of the pons |
HPO ClinVar |
PMID:22544365 PMID:23883322 PMID:24524299 PMID:25741868 PMID:28053271 PMID:28492532 PMID:30221345 More...
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ORPHA:2254 |
NCBI chr 9:37,779,714...37,785,092
Ensembl chr 9:37,759,234...37,832,117
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EXOSC8 |
exosome component 8 |
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IAGP |
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HPO |
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ORPHA:2254 |
NCBI chr13:37,000,786...37,009,614
Ensembl chr13:36,998,816...37,025,881
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EXOSC9 |
exosome component 9 |
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IAGP |
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HPO |
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ORPHA:2254 |
NCBI chr 4:121,801,323...121,817,021
Ensembl chr 4:121,801,318...121,817,021
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FGF8 |
fibroblast growth factor 8 |
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IAGP |
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HPO |
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ORPHA:280195 |
NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371
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FKRP |
fukutin related protein |
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IAGP |
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HPO |
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OMIM:613153 ORPHA:370959 |
NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988
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FOXH1 |
forkhead box H1 |
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IAGP |
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HPO |
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ORPHA:280195 |
NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849
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GAS1 |
growth arrest specific 1 |
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IAGP |
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HPO |
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ORPHA:280195 |
NCBI chr 9:86,944,362...86,947,506
Ensembl chr 9:86,944,362...86,947,506
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GLI2 |
GLI family zinc finger 2 |
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IAGP |
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HPO |
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ORPHA:280195 |
NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
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GMPPB |
GDP-mannose pyrophosphorylase B |
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IAGP |
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HPO |
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OMIM:615350 ORPHA:370959 |
NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973
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GPHN |
gephyrin |
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IAGP |
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HPO |
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OMIM:615501 |
NCBI chr14:66,508,147...67,735,355
Ensembl chr14:66,507,407...67,181,803
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LARGE1 |
LARGE xylosyl- and glucuronyltransferase 1 |
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IAGP |
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HPO |
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OMIM:613154 |
NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841
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MAB21L1 |
mab-21 like 1 |
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IAGP |
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HPO |
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OMIM:618479 |
NCBI chr13:35,473,789...35,476,689
Ensembl chr13:35,473,419...35,478,764
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MACF1 |
microtubule actin crosslinking factor 1 |
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IAGP |
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HPO |
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OMIM:618325 |
NCBI chr 1:39,084,167...39,487,138
Ensembl chr 1:39,081,316...39,487,177
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MARS2 |
methionyl-tRNA synthetase 2, mitochondrial |
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IAGP |
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HPO |
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OMIM:616430 |
NCBI chr 2:197,705,369...197,708,395
Ensembl chr 2:197,705,369...197,708,395
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MDH1 |
malate dehydrogenase 1 |
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IAGP |
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HPO |
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OMIM:618959 |
NCBI chr 2:63,588,963...63,607,197
Ensembl chr 2:63,588,609...63,607,197
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MED23 |
mediator complex subunit 23 |
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IAGP |
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HPO |
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OMIM:614249 |
NCBI chr 6:131,573,966...131,628,313
Ensembl chr 6:131,573,966...131,628,242
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MINPP1 |
multiple inositol-polyphosphate phosphatase 1 |
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IAGP |
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HPO |
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OMIM:619527 |
NCBI chr10:87,504,893...87,553,461
Ensembl chr10:87,504,875...87,553,461
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NODAL |
nodal growth differentiation factor |
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IAGP |
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HPO |
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ORPHA:280195 |
NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951
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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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PI4KA |
phosphatidylinositol 4-kinase alpha |
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IAGP |
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HPO |
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OMIM:619708 |
NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417
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PIGS |
phosphatidylinositol glycan anchor biosynthesis class S |
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IAGP |
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HPO |
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OMIM:618143 |
NCBI chr17:28,553,387...28,571,524
Ensembl chr17:28,553,383...28,571,794
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PLK4 |
polo like kinase 4 |
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IAGP |
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HPO |
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OMIM:616171 |
NCBI chr 4:127,880,893...127,899,224
Ensembl chr 4:127,880,893...127,899,224
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POGZ |
pogo transposable element derived with ZNF domain |
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IAGP |
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HPO |
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ORPHA:468678 |
NCBI chr 1:151,402,724...151,459,494
Ensembl chr 1:151,402,724...151,459,494
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POMGNT1 |
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
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IAGP |
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HPO |
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OMIM:613151 ORPHA:370959 |
NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305
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POMK |
protein O-mannose kinase |
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IAGP |
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HPO |
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ORPHA:370959 |
NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180
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POMT1 |
protein O-mannosyltransferase 1 |
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IAGP |
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HPO |
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ORPHA:370959 |
NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806
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POMT2 |
protein O-mannosyltransferase 2 |
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IAGP |
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HPO |
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ORPHA:370959 |
NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883
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PPIL1 |
peptidylprolyl isomerase like 1 |
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IAGP |
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HPO |
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OMIM:619301 |
NCBI chr 6:36,854,829...36,874,803
Ensembl chr 6:36,854,827...36,874,803
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PRDM13 |
PR/SET domain 13 |
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IAGP |
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HPO |
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OMIM:619909 |
NCBI chr 6:99,606,833...99,615,562
Ensembl chr 6:99,606,774...99,615,578
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PTCH1 |
patched 1 |
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IAGP |
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HPO |
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ORPHA:280195 |
NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
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PTEN |
phosphatase and tensin homolog |
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IAGP |
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HPO |
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ORPHA:101070 |
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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RELN |
reelin |
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IAGP |
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HPO |
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OMIM:257320 |
NCBI chr 7:103,471,789...103,989,658
Ensembl chr 7:103,471,381...103,989,658
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RERE |
arginine-glutamic acid dipeptide repeats |
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IAGP |
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HPO |
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OMIM:616975 |
NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921
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ROBO1 |
roundabout guidance receptor 1 |
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IAGP |
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HPO |
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OMIM:620305 |
NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998
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ROBO3 |
roundabout guidance receptor 3 |
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IAGP |
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HPO |
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OMIM:607313 |
NCBI chr11:124,865,432...124,881,471
Ensembl chr11:124,865,432...124,881,471
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RTTN |
rotatin |
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IAGP |
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HPO |
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ORPHA:468631 |
NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,205,726
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SETD2 |
SET domain containing 2, histone lysine methyltransferase |
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IAGP |
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HPO |
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OMIM:620155 OMIM:620157 |
NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113
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SHH |
sonic hedgehog signaling molecule |
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IAGP |
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HPO |
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ORPHA:280195 |
NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
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SIX3 |
SIX homeobox 3 |
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IAGP |
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HPO |
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ORPHA:280195 |
NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071
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SLC25A46 |
solute carrier family 25 member 46 |
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IAGP |
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HPO |
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OMIM:619303 ORPHA:2254 |
NCBI chr 5:110,738,145...110,765,157
Ensembl chr 5:110,738,136...110,765,161
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SLC5A6 |
solute carrier family 5 member 6 |
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IAGP |
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HPO |
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OMIM:618973 |
NCBI chr 2:27,199,587...27,212,787
Ensembl chr 2:27,199,587...27,212,958
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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:619293 |
NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624
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SNX14 |
sorting nexin 14 |
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IAGP |
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HPO |
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ORPHA:397709 |
NCBI chr 6:85,505,496...85,593,858
Ensembl chr 6:85,504,776...85,594,156
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STIL |
STIL centriolar assembly protein |
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IAGP |
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HPO |
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ORPHA:280195 |
NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892
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STUB1 |
STIP1 homology and U-box containing protein 1 |
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IAGP |
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HPO |
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ORPHA:412057 |
NCBI chr16:680,410...682,801
Ensembl chr16:680,224...682,870
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TBC1D23 |
TBC1 domain family member 23 |
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IAGP |
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HPO |
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OMIM:617695 |
NCBI chr 3:100,260,992...100,325,238
Ensembl chr 3:100,260,992...100,325,251
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TGIF1 |
TGFB induced factor homeobox 1 |
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IAGP |
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HPO |
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ORPHA:280195 |
NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978
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TOE1 |
target of EGR1, exonuclease |
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IAGP |
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HPO |
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OMIM:614969 |
NCBI chr 1:45,340,170...45,343,973
Ensembl chr 1:45,340,052...45,343,973
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TRAPPC12 |
trafficking protein particle complex subunit 12 |
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IAGP |
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HPO |
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OMIM:617669 ORPHA:500144 |
NCBI chr 2:3,379,694...3,479,565
Ensembl chr 2:3,379,675...3,485,094
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TSEN15 |
tRNA splicing endonuclease subunit 15 |
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IAGP |
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HPO |
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OMIM:617026 |
NCBI chr 1:184,051,730...184,097,485
Ensembl chr 1:184,051,651...184,123,978
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TSEN54 |
tRNA splicing endonuclease subunit 54 |
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IAGP |
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HPO |
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OMIM:225753 OMIM:277470 |
NCBI chr17:75,516,528...75,524,735
Ensembl chr17:75,515,944...75,524,735
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TUBA1A |
tubulin alpha 1a |
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IAGP |
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HPO |
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ORPHA:467166 |
NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,080
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TUBB2B |
tubulin beta 2B class IIb |
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IAGP |
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HPO |
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ORPHA:300573 ORPHA:467166 |
NCBI chr 6:3,224,277...3,227,653
Ensembl chr 6:3,223,324...3,231,730
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TUBB3 |
tubulin beta 3 class III |
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IAGP |
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HPO |
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ORPHA:467166 |
NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761
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UBE2A |
ubiquitin conjugating enzyme E2 A |
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IAGP |
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HPO |
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ORPHA:163956 |
NCBI chr X:119,574,563...119,584,423
Ensembl chr X:119,474,802...119,591,083
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VPS51 |
VPS51 subunit of GARP complex |
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IAGP |
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HPO |
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OMIM:618606 |
NCBI chr11:65,096,214...65,111,862
Ensembl chr11:65,089,324...65,111,862
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VRK1 |
VRK serine/threonine kinase 1 |
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IAGP |
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HPO |
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OMIM:607596 OMIM:620542 ORPHA:2254 |
NCBI chr14:96,797,382...96,881,609
Ensembl chr14:96,797,304...96,954,846
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WNT1 |
Wnt family member 1 |
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IAGP |
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HPO |
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OMIM:615220 |
NCBI chr12:48,978,322...48,982,620
Ensembl chr12:48,978,322...48,982,620
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ZIC1 |
Zic family member 1 |
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IAGP |
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HPO |
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OMIM:618736 |
NCBI chr 3:147,409,365...147,416,719
Ensembl chr 3:147,393,422...147,510,293
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ZIC2 |
Zic family member 2 |
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IAGP |
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HPO |
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ORPHA:280195 |
NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765
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SEPSECS |
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase |
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IAGP |
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HPO |
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ORPHA:2524 |
NCBI chr 4:25,120,014...25,160,582
Ensembl chr 4:25,120,014...25,160,550
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TSEN15 |
tRNA splicing endonuclease subunit 15 |
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IAGP |
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HPO |
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ORPHA:2524 |
NCBI chr 1:184,051,730...184,097,485
Ensembl chr 1:184,051,651...184,123,978
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TSEN2 |
tRNA splicing endonuclease subunit 2 |
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IAGP |
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HPO |
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ORPHA:2524 |
NCBI chr 3:12,480,231...12,539,624
Ensembl chr 3:12,484,421...12,541,549
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TSEN34 |
tRNA splicing endonuclease subunit 34 |
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IAGP |
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HPO |
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ORPHA:2524 |
NCBI chr19:54,189,441...54,194,532
Ensembl chr19:54,189,938...54,194,536
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TSEN54 |
tRNA splicing endonuclease subunit 54 |
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IAGP |
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HPO |
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ORPHA:2524 |
NCBI chr17:75,516,528...75,524,735
Ensembl chr17:75,515,944...75,524,735
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VRK1 |
VRK serine/threonine kinase 1 |
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IAGP |
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HPO |
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OMIM:607596 |
NCBI chr14:96,797,382...96,881,609
Ensembl chr14:96,797,304...96,954,846
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ATXN2 |
ataxin 2 |
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IAGP |
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HPO |
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ORPHA:98756 |
NCBI chr12:111,452,214...111,599,673
Ensembl chr12:111,443,485...111,599,676
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CFAP96 |
cilia and flagella associated protein 96 |
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IAGP |
ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia |
ClinVar |
PMID:25741868 PMID:25741905 PMID:28492532 PMID:33473208 |
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NCBI chr 4:185,408,434...185,449,826
Ensembl chr 4:185,426,249...185,449,826
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FKRP |
fukutin related protein |
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IAGP |
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HPO |
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ORPHA:370959 |
NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988
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GMPPB |
GDP-mannose pyrophosphorylase B |
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IAGP |
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HPO |
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ORPHA:370959 |
NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973
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LOC112533671 |
Sharpr-MPRA regulatory region 12010 |
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IAGP |
ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia |
ClinVar |
PMID:18414213 |
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NCBI chr17:75,516,308...75,516,766
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MINPP1 |
multiple inositol-polyphosphate phosphatase 1 |
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IAGP |
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HPO |
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ORPHA:284339 |
NCBI chr10:87,504,893...87,553,461
Ensembl chr10:87,504,875...87,553,461
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PMM2 |
phosphomannomutase 2 |
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IAGP |
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HPO |
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OMIM:212065 |
NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534
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POMGNT1 |
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
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IAGP |
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HPO |
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ORPHA:370959 |
NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305
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POMK |
protein O-mannose kinase |
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IAGP |
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HPO |
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ORPHA:370959 |
NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180
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POMT1 |
protein O-mannosyltransferase 1 |
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IAGP |
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HPO |
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ORPHA:370959 |
NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806
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POMT2 |
protein O-mannosyltransferase 2 |
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IAGP |
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HPO |
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ORPHA:370959 |
NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883
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PPP2R1A |
protein phosphatase 2 scaffold subunit Aalpha |
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IAGP |
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HPO |
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ORPHA:457284 |
NCBI chr19:52,190,052...52,229,518
Ensembl chr19:52,170,936...52,229,518
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RTTN |
rotatin |
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IAGP |
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HPO |
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ORPHA:468631 |
NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,205,726
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TOE1 |
target of EGR1, exonuclease |
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IAGP |
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HPO |
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ORPHA:284339 |
NCBI chr 1:45,340,170...45,343,973
Ensembl chr 1:45,340,052...45,343,973
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TSEN54 |
tRNA splicing endonuclease subunit 54 |
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IAGP |
ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia |
ClinVar HPO |
PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20301773 PMID:20803644 PMID:20952379 PMID:20956791 PMID:21368912 PMID:21468723 PMID:21609947 PMID:23177318 PMID:23307886 PMID:24033266 PMID:24886362 PMID:25326635 PMID:25741868 PMID:26701950 PMID:27430971 PMID:27570394 PMID:28492532 PMID:29410950 More...
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OMIM:610204 ORPHA:166063 |
NCBI chr17:75,516,528...75,524,735
Ensembl chr17:75,515,944...75,524,735
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UFSP2 |
UFM1 specific peptidase 2 |
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IAGP |
ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia |
ClinVar |
PMID:25741868 PMID:25741905 PMID:28492532 PMID:33473208 |
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NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,537...185,425,979
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SACS |
sacsin molecular chaperone |
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IAGP |
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HPO |
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OMIM:270550 |
NCBI chr13:23,328,830...23,433,702
Ensembl chr13:23,288,689...23,433,763
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CCDC88C |
coiled-coil domain containing 88C |
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IAGP |
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HPO |
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OMIM:616053 ORPHA:423275 |
NCBI chr14:91,271,323...91,417,820
Ensembl chr14:91,271,323...91,417,844
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CLTC |
clathrin heavy chain |
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IAGP |
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HPO |
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OMIM:617854 |
NCBI chr17:59,619,895...59,696,956
Ensembl chr17:59,619,684...59,696,956
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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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FA2H |
fatty acid 2-hydroxylase |
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IAGP |
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HPO |
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ORPHA:171629 |
NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831
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INTS11 |
integrator complex subunit 11 |
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IAGP |
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HPO |
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OMIM:620428 |
NCBI chr 1:1,311,600...1,324,660
Ensembl chr 1:1,311,585...1,324,687
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LAMA2 |
laminin subunit alpha 2 |
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IAGP |
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HPO |
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ORPHA:258 |
NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566
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RORA |
RAR related orphan receptor A |
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IAGP |
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HPO |
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OMIM:618060 |
NCBI chr15:60,488,284...61,229,302
Ensembl chr15:60,488,284...61,229,302
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SETX |
senataxin |
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IAGP |
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HPO |
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OMIM:606002 |
NCBI chr 9:132,261,356...132,356,744
Ensembl chr 9:132,261,356...132,354,986
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VPS4A |
vacuolar protein sorting 4 homolog A |
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IAGP |
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HPO |
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OMIM:619273 |
NCBI chr16:69,311,350...69,326,939
Ensembl chr16:69,311,350...69,326,939
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CEP290 |
centrosomal protein 290 |
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IAGP |
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HPO |
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OMIM:610188 |
NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
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NPHP1 |
nephrocystin 1 |
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IAGP |
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HPO |
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OMIM:609583 |
NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066
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TMEM216 |
transmembrane protein 216 |
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IAGP |
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HPO |
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OMIM:608091 |
NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866
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TMEM67 |
transmembrane protein 67 |
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IAGP |
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HPO |
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OMIM:610688 |
NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234
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Term paths to the root
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