Term: | Blue sclerae |
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Accession: | HP:0000592
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browse the term
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Definition: | An abnormal bluish coloration of the sclera. |
Synonyms: | exact_synonym: | Blue sclera; Bluish sclerae; Gray sclerae; Grey sclerae; Whites of eyes are a bluish-gray color; Whites of eyes are a bluish-gray colour |
| broad_synonym: | Blue outer white part of eyeball |
| xref: | SNOMEDCT_US:204164000; UMLS:C0542514 |
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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 ORPHA:758 |
NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
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ADAMTS2 |
ADAM metallopeptidase with thrombospondin type 1 motif 2 |
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IAGP |
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HPO |
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OMIM:225410 |
NCBI chr 5:179,110,853...179,345,461
Ensembl chr 5:179,110,853...179,345,461
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ALPL |
alkaline phosphatase, biomineralization associated |
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IAGP |
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HPO |
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OMIM:241500 |
NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410
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ATP6V0A2 |
ATPase H+ transporting V0 subunit a2 |
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IAGP |
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HPO |
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OMIM:278250 |
NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,353...123,761,755
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B3GALT6 |
beta-1,3-galactosyltransferase 6 |
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IAGP |
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HPO |
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OMIM:271640 OMIM:615349 ORPHA:536467 |
NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041
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B3GAT3 |
beta-1,3-glucuronyltransferase 3 |
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IAGP |
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HPO |
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OMIM:245600 |
NCBI chr11:62,615,296...62,621,986
Ensembl chr11:62,615,296...62,622,154
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B4GALT7 |
beta-1,4-galactosyltransferase 7 |
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IAGP |
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HPO |
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OMIM:130070 |
NCBI chr 5:177,600,132...177,610,330
Ensembl chr 5:177,600,132...177,610,330
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BCL11A |
BCL11 transcription factor A |
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IAGP |
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HPO |
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OMIM:617101 |
NCBI chr 2:60,450,520...60,553,924
Ensembl chr 2:60,450,520...60,554,467
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BMP1 |
bone morphogenetic protein 1 |
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IAGP |
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HPO |
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OMIM:614856 |
NCBI chr 8:22,165,372...22,212,326
Ensembl chr 8:22,165,140...22,212,326
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C1R |
complement C1r |
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IAGP |
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HPO |
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OMIM:130080 |
NCBI chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540
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CA2 |
carbonic anhydrase 2 |
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IAGP |
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HPO |
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ORPHA:2785 |
NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493
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CANT1 |
calcium activated nucleotidase 1 |
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IAGP |
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HPO |
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ORPHA:1425 |
NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867
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CHST14 |
carbohydrate sulfotransferase 14 |
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IAGP |
DNA:frameshift mutations, missense mutations:CDS:multiple |
HPO RGD |
PMID:26373698 |
OMIM:601776 ORPHA:2953, RGD:11061906 |
NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158
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CHST3 |
carbohydrate sulfotransferase 3 |
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IAGP |
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HPO |
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OMIM:245600 |
NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558
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CHSY1 |
chondroitin sulfate synthase 1 |
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IAGP |
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HPO |
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OMIM:605282 ORPHA:363417 |
NCBI chr15:101,175,727...101,252,048
Ensembl chr15:101,175,727...101,252,048
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COG4 |
component of oligomeric golgi complex 4 |
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IAGP |
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HPO |
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OMIM:618150 |
NCBI chr16:70,480,567...70,523,554
Ensembl chr16:70,480,568...70,523,560
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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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COL1A1 |
collagen type I alpha 1 chain |
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IAGP |
DNA:mutations:multiple: ClinVar Annotator: match by term: Blue sclerae ClinVar Annotator: match by term: Blue outer white part of eyeball |
ClinVar HPO RGD |
PMID:7942841 PMID:8364588 PMID:9295084 PMID:9443882 PMID:16199547 PMID:25741868 PMID:28492532 PMID:31447884 PMID:21667357 More...
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OMIM:166200 OMIM:166210 OMIM:166220 OMIM:259420 OMIM:619115, RGD:11667067 |
NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
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COL1A2 |
collagen type I alpha 2 chain |
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IAGP |
DNA:mutations:multiple: |
HPO RGD |
PMID:21667357 |
OMIM:166210 OMIM:166220 OMIM:259420 OMIM:619120, RGD:11667067 |
NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227
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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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COL5A1 |
collagen type V alpha 1 chain |
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IAGP |
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HPO |
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OMIM:130000 OMIM:619329 |
NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843
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CREB3L1 |
cAMP responsive element binding protein 3 like 1 |
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IAGP |
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HPO |
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OMIM:616229 |
NCBI chr11:46,277,662...46,321,409
Ensembl chr11:46,277,662...46,321,409
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CRTAP |
cartilage associated protein |
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IAGP |
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HPO |
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OMIM:610682 ORPHA:2050 |
NCBI chr 3:33,114,014...33,147,773
Ensembl chr 3:33,114,014...33,147,773
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CSGALNACT1 |
chondroitin sulfate N-acetylgalactosaminyltransferase 1 |
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IAGP |
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HPO |
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ORPHA:1425 |
NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,161...19,758,029
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CTSK |
cathepsin K |
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IAGP |
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HPO |
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ORPHA:763 |
NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,794,880...150,809,577
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CYB5A |
cytochrome b5 type A |
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IAGP |
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HPO |
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ORPHA:621 |
NCBI chr18:74,250,846...74,291,963
Ensembl chr18:74,250,846...74,291,973
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CYB5R3 |
cytochrome b5 reductase 3 |
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IAGP |
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HPO |
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ORPHA:621 |
NCBI chr22:42,617,840...42,649,392
Ensembl chr22:42,615,730...42,720,870
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DSE |
dermatan sulfate epimerase |
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IAGP |
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HPO |
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OMIM:615539 ORPHA:2953 |
NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,254,173...116,444,861
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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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OMIM:616894 ORPHA:3107 |
NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614
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ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
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IAGP |
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HPO |
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ORPHA:758 |
NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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ESCO2 |
establishment of sister chromatid cohesion N-acetyltransferase 2 |
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IAGP |
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HPO |
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OMIM:268300 ORPHA:3103 |
NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640
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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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FBN1 |
fibrillin 1 |
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IAGP |
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HPO |
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ORPHA:284979 |
NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
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FKBP10 |
FKBP prolyl isomerase 10 |
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IAGP |
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HPO |
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OMIM:610968 |
NCBI chr17:41,813,004...41,823,213
Ensembl chr17:41,812,680...41,823,213
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FKBP14 |
FKBP prolyl isomerase 14 |
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IAGP |
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HPO |
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OMIM:614557 |
NCBI chr 7:30,005,923...30,026,702
Ensembl chr 7:30,010,587...30,026,702
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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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GDF11 |
growth differentiation factor 11 |
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IAGP |
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HPO |
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OMIM:619122 |
NCBI chr12:55,743,122...55,757,264
Ensembl chr12:55,743,122...55,757,264
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GHR |
growth hormone receptor |
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IAGP |
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HPO |
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OMIM:262500 ORPHA:633 |
NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878
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GNB2 |
G protein subunit beta 2 |
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IAGP |
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HPO |
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OMIM:619503 |
NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174
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H19-ICR |
H19/IGF2 imprinting control region |
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IAGP |
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HPO |
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OMIM:180860 |
NCBI chr11:1,998,202...2,003,509
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HECTD4 |
HECT domain E3 ubiquitin protein ligase 4 |
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IAGP |
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HPO |
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OMIM:620250 |
NCBI chr12:112,160,195...112,382,431
Ensembl chr12:112,160,188...112,382,439
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IFITM5 |
interferon induced transmembrane protein 5 |
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IAGP |
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HPO |
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OMIM:610967 |
NCBI chr11:298,200...299,526
Ensembl chr11:298,200...299,526
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IGF2 |
insulin like growth factor 2 |
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IAGP |
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HPO |
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OMIM:180860 |
NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
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IKBKG |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
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IAGP |
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HPO |
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ORPHA:464 |
NCBI chr X:154,541,238...154,565,046
Ensembl chr X:154,541,199...154,565,046
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INPPL1 |
inositol polyphosphate phosphatase like 1 |
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IAGP |
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HPO |
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ORPHA:2746 |
NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,701...72,239,147
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IPO8 |
importin 8 |
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IAGP |
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HPO |
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OMIM:619472 ORPHA:60030 |
NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869
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KDM1A |
lysine demethylase 1A |
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IAGP |
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HPO |
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OMIM:616728 ORPHA:477993 |
NCBI chr 1:23,019,468...23,083,689
Ensembl chr 1:23,019,443...23,083,689
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KDM6A |
lysine demethylase 6A |
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IAGP |
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HPO |
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OMIM:147920 OMIM:300867 ORPHA:2322 |
NCBI chr X:44,873,188...45,112,779
Ensembl chr X:44,873,188...45,112,779
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KIFBP |
kinesin family binding protein |
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IAGP |
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HPO |
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OMIM:609460 |
NCBI chr10:68,988,803...69,016,982
Ensembl chr10:68,988,803...69,043,544
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KMT2A |
lysine methyltransferase 2A |
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IAGP |
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HPO |
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OMIM:605130 |
NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832
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KMT2D |
lysine methyltransferase 2D |
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IAGP |
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HPO |
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OMIM:147920 ORPHA:2322 |
NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
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LOC126862586 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901 |
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IAGP |
ClinVar Annotator: match by term: Blue sclerae |
ClinVar |
PMID:7942841 PMID:9295084 PMID:9443882 PMID:16199547 PMID:25741868 PMID:28492532 PMID:31447884 More...
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NCBI chr17:50,196,341...50,197,540
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LRP5 |
LDL receptor related protein 5 |
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IAGP |
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HPO |
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ORPHA:2788 |
NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275
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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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OMIM:157800 OMIM:617137 |
NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086
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MBTPS2 |
membrane bound transcription factor peptidase, site 2 |
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IAGP |
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HPO |
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OMIM:301014 |
NCBI chr X:21,839,617...21,885,423
Ensembl chr X:21,839,617...21,885,423
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MED27 |
mediator complex subunit 27 |
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IAGP |
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HPO |
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OMIM:619286 |
NCBI chr 9:131,860,112...132,079,867
Ensembl chr 9:131,852,928...132,079,867
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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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MESD |
mesoderm development LRP chaperone |
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IAGP |
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HPO |
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OMIM:618644 |
NCBI chr15:80,946,289...80,989,819
Ensembl chr15:80,946,289...80,989,828
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MSX2 |
msh homeobox 2 |
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IAGP |
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HPO |
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OMIM:168500 |
NCBI chr 5:174,724,582...174,730,896
Ensembl chr 5:174,724,582...174,730,896
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MVK |
mevalonate kinase |
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IAGP |
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HPO |
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OMIM:610377 ORPHA:29 |
NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125
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NFIX |
nuclear factor I X |
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IAGP |
ClinVar Annotator: match by term: Blue sclerae |
ClinVar HPO |
PMID:25741868 |
OMIM:602535 ORPHA:561 |
NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796
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NXN |
nucleoredoxin |
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IAGP |
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HPO |
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ORPHA:1507 |
NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776
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P4HB |
prolyl 4-hydroxylase subunit beta |
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IAGP |
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HPO |
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ORPHA:2050 |
NCBI chr17:81,843,166...81,860,535
Ensembl chr17:81,843,159...81,860,856
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PAX1 |
paired box 1 |
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IAGP |
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HPO |
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OMIM:615560 |
NCBI chr20:21,705,664...21,718,481
Ensembl chr20:21,705,659...21,718,481
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PGM1 |
phosphoglucomutase 1 |
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IAGP |
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HPO |
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OMIM:614921 |
NCBI chr 1:63,593,411...63,660,245
Ensembl chr 1:63,593,411...63,660,245
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PHLDB1 |
pleckstrin homology like domain family B member 1 |
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IAGP |
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HPO |
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OMIM:620639 |
NCBI chr11:118,606,436...118,658,028
Ensembl chr11:118,606,440...118,658,031
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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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OMIM:225400 ORPHA:1900 |
NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538
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POLR3A |
RNA polymerase III subunit A |
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IAGP |
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HPO |
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OMIM:264090 ORPHA:3455 |
NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522
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POLRMT |
RNA polymerase mitochondrial |
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IAGP |
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HPO |
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OMIM:619743 |
NCBI chr19:617,221...633,537
Ensembl chr19:617,221...633,537
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PPIB |
peptidylprolyl isomerase B |
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IAGP |
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HPO |
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OMIM:259440 |
NCBI chr15:64,155,817...64,163,022
Ensembl chr15:64,155,740...64,163,134
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PPP1R15B |
protein phosphatase 1 regulatory subunit 15B |
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IAGP |
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HPO |
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OMIM:616817 ORPHA:391408 |
NCBI chr 1:204,395,826...204,411,817
Ensembl chr 1:204,396,492...204,411,887
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PPP1R21 |
protein phosphatase 1 regulatory subunit 21 |
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IAGP |
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HPO |
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OMIM:619383 |
NCBI chr 2:48,440,766...48,515,386
Ensembl chr 2:48,440,598...48,515,391
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PRDM5 |
PR/SET domain 5 |
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IAGP |
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HPO |
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OMIM:614170 ORPHA:90354 |
NCBI chr 4:120,684,291...120,922,726
Ensembl chr 4:120,684,919...120,922,870
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PRKG2 |
protein kinase cGMP-dependent 2 |
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IAGP |
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HPO |
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OMIM:619638 |
NCBI chr 4:81,087,370...81,217,836
Ensembl chr 4:81,087,370...81,215,222
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PRMT7 |
protein arginine methyltransferase 7 |
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IAGP |
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HPO |
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ORPHA:464288 |
NCBI chr16:68,311,019...68,360,870
Ensembl chr16:68,310,951...68,360,852
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PUS3 |
pseudouridine synthase 3 |
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IAGP |
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HPO |
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OMIM:617051 ORPHA:488627 |
NCBI chr11:125,893,485...125,903,206
Ensembl chr11:125,893,485...125,903,221
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PYCR1 |
pyrroline-5-carboxylate reductase 1 |
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IAGP |
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HPO |
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OMIM:612940 OMIM:614438 |
NCBI chr17:81,932,391...81,937,300
Ensembl chr17:81,932,384...81,942,412
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RMRP |
RNA component of mitochondrial RNA processing endoribonuclease |
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IAGP |
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HPO |
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ORPHA:175 |
NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017
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ROR2 |
receptor tyrosine kinase like orphan receptor 2 |
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IAGP |
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HPO |
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ORPHA:1507 |
NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228
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RPS23 |
ribosomal protein S23 |
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IAGP |
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HPO |
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OMIM:617412 |
NCBI chr 5:82,273,320...82,278,354
Ensembl chr 5:82,273,320...82,278,396
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RYR3 |
ryanodine receptor 3 |
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IAGP |
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HPO |
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OMIM:620310 |
NCBI chr15:33,310,967...33,866,102
Ensembl chr15:33,310,962...33,866,121
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SEC24D |
SEC24 homolog D, COPII coat complex component |
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IAGP |
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HPO |
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OMIM:616294 ORPHA:2050 |
NCBI chr 4:118,722,823...118,836,126
Ensembl chr 4:118,722,823...118,838,683
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SERPINF1 |
serpin family F member 1 |
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IAGP |
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HPO |
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OMIM:613982 |
NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
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SERPINH1 |
serpin family H member 1 |
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IAGP |
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HPO |
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OMIM:613848 |
NCBI chr11:75,562,253...75,572,783
Ensembl chr11:75,562,056...75,572,783
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SLC26A2 |
solute carrier family 26 member 2 |
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IAGP |
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HPO |
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ORPHA:628 |
NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
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SLC39A13 |
solute carrier family 39 member 13 |
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IAGP |
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HPO |
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OMIM:612350 ORPHA:157965 |
NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,496
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SMAD2 |
SMAD family member 2 |
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IAGP |
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HPO |
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ORPHA:60030 |
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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OMIM:613795 ORPHA:60030 |
NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173
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SON |
SON DNA and RNA binding protein |
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IAGP |
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HPO |
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ORPHA:500150 |
NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481
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SP7 |
Sp7 transcription factor |
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IAGP |
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HPO |
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OMIM:613849 |
NCBI chr12:53,326,575...53,344,793
Ensembl chr12:53,326,575...53,345,315
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TELO2 |
telomere maintenance 2 |
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IAGP |
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HPO |
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ORPHA:488642 |
NCBI chr16:1,493,360...1,510,454
Ensembl chr16:1,493,344...1,510,457
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TENT5A |
terminal nucleotidyltransferase 5A |
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IAGP |
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HPO |
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OMIM:617952 |
NCBI chr 6:81,745,730...81,752,681
Ensembl chr 6:81,491,439...81,752,774
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TGFB2 |
transforming growth factor beta 2 |
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IAGP |
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HPO |
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ORPHA:60030 |
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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OMIM:615582 ORPHA:60030 |
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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OMIM:609192 ORPHA:60030 |
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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OMIM:610168 ORPHA:60030 |
NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249
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TMEM163 |
transmembrane protein 163 |
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IAGP |
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HPO |
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OMIM:620243 |
NCBI chr 2:134,455,759...134,719,000
Ensembl chr 2:134,455,759...134,719,000
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TMEM38B |
transmembrane protein 38B |
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IAGP |
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HPO |
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OMIM:615066 |
NCBI chr 9:105,694,541...105,776,629
Ensembl chr 9:105,694,541...105,776,629
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TRMT10A |
tRNA methyltransferase 10A |
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IAGP |
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HPO |
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ORPHA:391408 |
NCBI chr 4:99,546,711...99,564,039
Ensembl chr 4:99,546,709...99,564,039
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TRMT5 |
tRNA methyltransferase 5 |
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IAGP |
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HPO |
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OMIM:616539 |
NCBI chr14:60,971,441...60,981,690
Ensembl chr14:60,971,441...60,981,170
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UNC45A |
unc-45 myosin chaperone A |
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IAGP |
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HPO |
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OMIM:619377 |
NCBI chr15:90,930,180...90,954,093
Ensembl chr15:90,930,180...90,954,093
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WASF1 |
WASP family member 1 |
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IAGP |
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HPO |
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OMIM:618707 |
NCBI chr 6:110,099,819...110,179,670
Ensembl chr 6:110,099,819...110,180,004
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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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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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WWOX |
WW domain containing oxidoreductase |
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IAGP |
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HPO |
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OMIM:616211 |
NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667
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XYLT1 |
xylosyltransferase 1 |
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IAGP |
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HPO |
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OMIM:615777 ORPHA:1425 |
NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960
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ZNF469 |
zinc finger protein 469 |
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IAGP |
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HPO |
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OMIM:229200 ORPHA:90354 |
NCBI chr16:88,100,931...88,440,753
Ensembl chr16:88,382,959...88,440,757
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Term paths to the root
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