Term: | Abnormal dental morphology |
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Accession: | HP:0006482
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browse the term
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Definition: | An abnormality of the morphology of the tooth. |
Synonyms: | exact_synonym: | Abnormality of dental morphology; Abnormality of dental shape; Abnormality of shape of tooth; Abnormally shaped teeth; Deformity of teeth; Dental deformity; Dental malformations; Malformation of teeth; Malformed teeth; Misshapen teeth; Misshapened teeth |
| alt_id: | HP:0000697 |
| xref: | MESH:D014071; SNOMEDCT_US:422775003; UMLS:C0040427; UMLS:C0262444 |
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ADAMTS10 |
ADAM metallopeptidase with thrombospondin type 1 motif 10 |
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IAGP |
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HPO |
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OMIM:277600 |
NCBI chr19:8,580,240...8,610,715
Ensembl chr19:8,580,240...8,610,735
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ADAMTS3 |
ADAM metallopeptidase with thrombospondin type 1 motif 3 |
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IAGP |
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HPO |
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ORPHA:2136 |
NCBI chr 4:72,280,969...72,569,221
Ensembl chr 4:72,280,969...72,569,221
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ANTXR2 |
ANTXR cell adhesion molecule 2 |
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IAGP |
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HPO |
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ORPHA:2176 |
NCBI chr 4:79,901,146...80,073,472
Ensembl chr 4:79,901,146...80,125,454
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AXIN2 |
axin 2 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
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BAZ1B |
bromodomain adjacent to zinc finger domain 1B |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293
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BCL7B |
BAF chromatin remodeling complex subunit BCL7B |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,536,356...73,557,690
Ensembl chr 7:73,536,356...73,557,690
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BCOR |
BCL6 corepressor |
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IAGP |
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HPO |
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ORPHA:568 |
NCBI chr X:40,051,246...40,177,329
Ensembl chr X:40,049,815...40,177,329
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BUD23 |
BUD23 rRNA methyltransferase and ribosome maturation factor |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212
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CCBE1 |
collagen and calcium binding EGF domains 1 |
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IAGP |
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HPO |
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ORPHA:2136 |
NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662
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CDH3 |
cadherin 3 |
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IAGP |
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HPO |
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ORPHA:1897 |
NCBI chr16:68,645,310...68,733,771
Ensembl chr16:68,636,189...68,727,468
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CKAP2L |
cytoskeleton associated protein 2 like |
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IAGP |
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HPO |
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OMIM:272440 |
NCBI chr 2:112,736,349...112,764,609
Ensembl chr 2:112,736,349...112,764,664
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CLCN7 |
chloride voltage-gated channel 7 |
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IAGP |
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HPO |
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ORPHA:210110 |
NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077
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CLIP2 |
CAP-Gly domain containing linker protein 2 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935
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CSTB |
cystatin B |
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IAGP |
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HPO |
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ORPHA:248 |
NCBI chr21:43,773,950...43,776,308
Ensembl chr21:43,772,511...43,776,330
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DHCR7 |
7-dehydrocholesterol reductase |
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IAGP |
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HPO |
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ORPHA:818 |
NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868
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DNAJC30 |
DnaJ heat shock protein family (Hsp40) member C30 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453
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EDA |
ectodysplasin A |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr X:69,616,113...70,039,472
Ensembl chr X:69,616,067...70,039,472
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EDAR |
ectodysplasin A receptor |
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IAGP |
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HPO |
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ORPHA:1810 ORPHA:248 |
NCBI chr 2:108,894,471...108,989,220
Ensembl chr 2:108,894,471...108,989,372
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EDARADD |
EDAR associated via death domain |
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IAGP |
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HPO |
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ORPHA:1810 ORPHA:248 ORPHA:99798 |
NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915
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EIF4H |
eukaryotic translation initiation factor 4H |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122
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ELN |
elastin |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
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FAT4 |
FAT atypical cadherin 4 |
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IAGP |
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HPO |
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ORPHA:2136 |
NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932
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FBN1 |
fibrillin 1 |
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IAGP |
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HPO |
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OMIM:608328 |
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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ORPHA:99798 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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FKBP6 |
FKBP prolyl isomerase family member 6 (inactive) |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637
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GTF2I |
general transcription factor IIi |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692
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GTF2IRD1 |
GTF2I repeat domain containing 1 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605
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GTF2IRD2 |
GTF2I repeat domain containing 2 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605
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HRAS |
HRas proto-oncogene, GTPase |
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IAGP |
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HPO |
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OMIM:163200 |
NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
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IDS |
iduronate 2-sulfatase |
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IAGP |
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HPO |
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ORPHA:217085 ORPHA:217093 |
NCBI chr X:149,476,988...149,505,306
Ensembl chr X:149,476,988...149,521,096
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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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IRF6 |
interferon regulatory factor 6 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
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KANSL1 |
KAT8 regulatory NSL complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:363958 ORPHA:363965 |
NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389
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KDF1 |
keratinocyte differentiation factor 1 |
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IAGP |
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HPO |
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ORPHA:1810 |
NCBI chr 1:26,949,562...26,960,468
Ensembl chr 1:26,949,562...26,960,468
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KDM6A |
lysine demethylase 6A |
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IAGP |
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HPO |
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ORPHA:2322 |
NCBI chr X:44,873,188...45,112,779
Ensembl chr X:44,873,188...45,112,779
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KMT2D |
lysine methyltransferase 2D |
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IAGP |
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HPO |
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ORPHA:2322 |
NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
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KRAS |
KRAS proto-oncogene, GTPase |
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IAGP |
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HPO |
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OMIM:163200 |
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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KRT14 |
keratin 14 |
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IAGP |
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HPO |
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ORPHA:69087 |
NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
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KRT71 |
keratin 71 |
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IAGP |
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HPO |
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OMIM:615896 |
NCBI chr12:52,543,909...52,553,145
Ensembl chr12:52,543,909...52,553,145
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LIMK1 |
LIM domain kinase 1 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525
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LONP1 |
lon peptidase 1, mitochondrial |
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IAGP |
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HPO |
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ORPHA:1458 |
NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572
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LRP6 |
LDL receptor related protein 6 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
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METTL27 |
methyltransferase like 27 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516
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MLXIPL |
MLX interacting protein like |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543
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MSX1 |
msh homeobox 1 |
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IAGP |
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HPO |
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ORPHA:2228 ORPHA:99798 |
NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
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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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ORPHA:568 |
NCBI chr X:153,929,225...153,935,037
Ensembl chr X:153,929,225...153,935,080
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NCF1 |
neutrophil cytosolic factor 1 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315
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NECTIN1 |
nectin cell adhesion molecule 1 |
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IAGP |
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HPO |
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ORPHA:3253 |
NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
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NRAS |
NRAS proto-oncogene, GTPase |
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IAGP |
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HPO |
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OMIM:163200 |
NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
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PAX9 |
paired box 9 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
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PIGL |
phosphatidylinositol glycan anchor biosynthesis class L |
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IAGP |
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HPO |
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ORPHA:3474 |
NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797
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PKP1 |
plakophilin 1 |
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IAGP |
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HPO |
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ORPHA:158668 |
NCBI chr 1:201,283,506...201,332,989
Ensembl chr 1:201,283,452...201,332,993
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PLEKHM1 |
pleckstrin homology and RUN domain containing M1 |
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IAGP |
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HPO |
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ORPHA:210110 |
NCBI chr17:45,434,209...45,490,721
Ensembl chr17:45,435,900...45,490,758
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POLR1B |
RNA polymerase I subunit B |
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IAGP |
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HPO |
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ORPHA:861 |
NCBI chr 2:112,542,036...112,579,818
Ensembl chr 2:112,541,915...112,579,818
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POLR1C |
RNA polymerase I and III subunit C |
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IAGP |
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HPO |
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ORPHA:861 |
NCBI chr 6:43,517,089...44,461,400
Ensembl chr 6:43,509,702...43,562,419
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POLR1D |
RNA polymerase I and III subunit D |
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IAGP |
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HPO |
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ORPHA:861 |
NCBI chr13:27,620,743...27,667,411
Ensembl chr13:27,620,742...27,744,237
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PORCN |
porcupine O-acyltransferase |
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IAGP |
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HPO |
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ORPHA:2092 |
NCBI chr X:48,508,992...48,520,814
Ensembl chr X:48,508,959...48,520,814
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RAI1 |
retinoic acid induced 1 |
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IAGP |
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HPO |
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ORPHA:1713 |
NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453
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RFC2 |
replication factor C subunit 2 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458
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RNU12 |
RNA, U12 small nuclear |
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IAGP |
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HPO |
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ORPHA:85199 |
NCBI chr22:42,615,244...42,615,393
Ensembl chr22:42,615,244...42,615,393
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RPS6KA3 |
ribosomal protein S6 kinase A3 |
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IAGP |
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HPO |
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ORPHA:192 |
NCBI chr X:20,149,911...20,267,097
Ensembl chr X:20,149,911...20,267,519
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SATB1 |
SATB homeobox 1 |
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IAGP |
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HPO |
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OMIM:619229 |
NCBI chr 3:18,345,377...18,445,592
Ensembl chr 3:18,345,377...18,445,621
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SH3BP2 |
SH3 domain binding protein 2 |
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IAGP |
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HPO |
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ORPHA:184 |
NCBI chr 4:2,793,085...2,841,096
Ensembl chr 4:2,793,023...2,841,291
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STX1A |
syntaxin 1A |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672
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SUMO1 |
small ubiquitin like modifier 1 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
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TBL2 |
transducin beta like 2 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791
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TCIRG1 |
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 |
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IAGP |
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HPO |
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ORPHA:210110 |
NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
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TCOF1 |
treacle ribosome biogenesis factor 1 |
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IAGP |
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HPO |
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ORPHA:861 |
NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,308
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TGFA |
transforming growth factor alpha |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
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TMEM270 |
transmembrane protein 270 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890
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TP63 |
tumor protein p63 |
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IAGP |
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HPO |
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ORPHA:978 |
NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
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TRAF6 |
TNF receptor associated factor 6 |
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IAGP |
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HPO |
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ORPHA:1810 |
NCBI chr11:36,483,769...36,510,272
Ensembl chr11:36,483,769...36,510,272
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TRPM4 |
transient receptor potential cation channel subfamily M member 4 |
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IAGP |
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HPO |
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OMIM:618531 |
NCBI chr19:49,157,792...49,211,836
Ensembl chr19:49,157,741...49,211,836
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VPS37D |
VPS37D subunit of ESCRT-I |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112
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WNT10A |
Wnt family member 10A |
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IAGP |
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HPO |
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ORPHA:248 ORPHA:99798 |
NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
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WNT10B |
Wnt family member 10B |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735
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ZEB2 |
zinc finger E-box binding homeobox 2 |
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IAGP |
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HPO |
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ORPHA:261537 ORPHA:261552 |
NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
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ZNF141 |
zinc finger protein 141 |
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IAGP |
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HPO |
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OMIM:615226 |
NCBI chr 4:337,814...384,868
Ensembl chr 4:337,814...384,868
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FGF3 |
fibroblast growth factor 3 |
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IAGP |
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HPO |
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ORPHA:2791 |
NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416
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AXIN2 |
axin 2 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
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EDA |
ectodysplasin A |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr X:69,616,113...70,039,472
Ensembl chr X:69,616,067...70,039,472
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EDARADD |
EDAR associated via death domain |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915
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FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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IRF6 |
interferon regulatory factor 6 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
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LRP6 |
LDL receptor related protein 6 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
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MSX1 |
msh homeobox 1 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
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PAX9 |
paired box 9 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
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SMARCAL1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 |
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IAGP |
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HPO |
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ORPHA:1830 |
NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053
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SUMO1 |
small ubiquitin like modifier 1 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
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TGFA |
transforming growth factor alpha |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
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WNT10A |
Wnt family member 10A |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
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WNT10B |
Wnt family member 10B |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735
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ATR |
ATR serine/threonine kinase |
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IAGP |
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HPO |
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OMIM:614564 |
NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733
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B3GLCT |
beta 3-glucosyltransferase |
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IAGP |
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HPO |
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OMIM:261540 |
NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276
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CCBE1 |
collagen and calcium binding EGF domains 1 |
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IAGP |
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HPO |
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OMIM:235510 |
NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662
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DYNC2LI1 |
dynein cytoplasmic 2 light intermediate chain 1 |
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IAGP |
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HPO |
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ORPHA:289 |
NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010
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EVC |
EvC ciliary complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:289 |
NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305
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EVC2 |
EvC ciliary complex subunit 2 |
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IAGP |
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HPO |
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ORPHA:289 |
NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548
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FGFR2 |
fibroblast growth factor receptor 2 |
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IAGP |
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HPO |
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OMIM:149730 |
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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GLI1 |
GLI family zinc finger 1 |
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IAGP |
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HPO |
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ORPHA:289 |
NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268
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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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OMIM:300291 |
NCBI chr X:154,541,238...154,565,046
Ensembl chr X:154,541,199...154,565,046
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PRKACA |
protein kinase cAMP-activated catalytic subunit alpha |
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IAGP |
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HPO |
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ORPHA:289 |
NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084
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PRKACB |
protein kinase cAMP-activated catalytic subunit beta |
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IAGP |
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HPO |
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ORPHA:289 |
NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498
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WNT10A |
Wnt family member 10A |
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IAGP |
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HPO |
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OMIM:257980 |
NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
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ST14 |
ST14 transmembrane serine protease matriptase |
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IAGP |
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HPO |
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OMIM:602400 |
NCBI chr11:130,159,782...130,210,362
Ensembl chr11:130,159,782...130,210,362
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ALX4 |
ALX homeobox 4 |
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IAGP |
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HPO |
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OMIM:613451 ORPHA:228390 |
NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139
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ANAPC1 |
anaphase promoting complex subunit 1 |
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IAGP |
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HPO |
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OMIM:618625 |
NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690
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ARID1B |
AT-rich interaction domain 1B |
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IAGP |
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HPO |
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OMIM:135900 |
NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
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ATP6V1B2 |
ATPase H+ transporting V1 subunit B2 |
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IAGP |
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HPO |
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OMIM:124480 |
NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819
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CDH1 |
cadherin 1 |
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IAGP |
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HPO |
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OMIM:119580 ORPHA:1997 |
NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
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CTNND1 |
catenin delta 1 |
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IAGP |
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HPO |
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OMIM:617681 ORPHA:1997 |
NCBI chr11:57,761,802...57,819,540
Ensembl chr11:57,753,243...57,819,546
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DHODH |
dihydroorotate dehydrogenase (quinone) |
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IAGP |
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HPO |
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OMIM:263750 |
NCBI chr16:72,008,744...72,027,659
Ensembl chr16:72,008,588...72,027,664
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EDA |
ectodysplasin A |
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IAGP |
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HPO |
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OMIM:305100 |
NCBI chr X:69,616,113...70,039,472
Ensembl chr X:69,616,067...70,039,472
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EDAR |
ectodysplasin A receptor |
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IAGP |
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HPO |
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OMIM:224900 |
NCBI chr 2:108,894,471...108,989,220
Ensembl chr 2:108,894,471...108,989,372
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EDARADD |
EDAR associated via death domain |
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IAGP |
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HPO |
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OMIM:224900 OMIM:614941 |
NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915
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EVC |
EvC ciliary complex subunit 1 |
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IAGP |
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HPO |
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OMIM:193530 ORPHA:952 |
NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305
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EVC2 |
EvC ciliary complex subunit 2 |
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IAGP |
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HPO |
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OMIM:193530 ORPHA:952 |
NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548
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FGF3 |
fibroblast growth factor 3 |
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IAGP |
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HPO |
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OMIM:610706 ORPHA:90024 |
NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416
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FGFR3 |
fibroblast growth factor receptor 3 |
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IAGP |
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HPO |
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OMIM:620192 |
NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
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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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OMIM:300636 OMIM:301081 OMIM:308300 ORPHA:98813 |
NCBI chr X:154,541,238...154,565,046
Ensembl chr X:154,541,199...154,565,046
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MSX1 |
msh homeobox 1 |
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IAGP |
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HPO |
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ORPHA:2228 |
NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
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NECTIN4 |
nectin cell adhesion molecule 4 |
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IAGP |
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HPO |
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OMIM:613573 |
NCBI chr 1:161,070,998...161,089,558
Ensembl chr 1:161,070,998...161,089,558
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NFKBIA |
NFKB inhibitor alpha |
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IAGP |
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HPO |
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OMIM:612132 ORPHA:98813 |
NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749
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PRKACA |
protein kinase cAMP-activated catalytic subunit alpha |
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IAGP |
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HPO |
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OMIM:619142 |
NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084
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G |
PRKACB |
protein kinase cAMP-activated catalytic subunit beta |
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IAGP |
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HPO |
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OMIM:619143 |
NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498
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RHOA |
ras homolog family member A |
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IAGP |
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HPO |
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OMIM:618727 |
NCBI chr 3:49,359,145...49,411,976
Ensembl chr 3:49,359,139...49,412,998
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RUSC2 |
RUN and SH3 domain containing 2 |
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IAGP |
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HPO |
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OMIM:617773 |
NCBI chr 9:35,490,111...35,561,895
Ensembl chr 9:35,490,111...35,561,898
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SATB2 |
SATB homeobox 2 |
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IAGP |
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HPO |
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OMIM:612313 |
NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266
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G |
SMARCD2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 |
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IAGP |
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HPO |
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OMIM:617475 |
NCBI chr17:63,832,081...63,842,685
Ensembl chr17:63,832,081...63,843,065
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G |
TP63 |
tumor protein p63 |
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IAGP |
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HPO |
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OMIM:106260 OMIM:129400 |
NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
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TSPEAR |
thrombospondin type laminin G domain and EAR repeats |
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IAGP |
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HPO |
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OMIM:618180 |
NCBI chr21:44,497,893...44,711,572
Ensembl chr21:44,497,893...44,711,572
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TNFRSF11A |
TNF receptor superfamily member 11a |
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IAGP |
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HPO |
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OMIM:174810 |
NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,287...62,391,288
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BCOR |
BCL6 corepressor |
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IAGP |
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HPO |
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OMIM:300166 ORPHA:2712 |
NCBI chr X:40,051,246...40,177,329
Ensembl chr X:40,049,815...40,177,329
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MED12 |
mediator complex subunit 12 |
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IAGP |
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HPO |
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ORPHA:93932 |
NCBI chr X:71,118,596...71,142,450
Ensembl chr X:71,118,543...71,144,103
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G |
SLC35A2 |
solute carrier family 35 member A2 |
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IAGP |
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HPO |
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OMIM:300896 |
NCBI chr X:48,903,183...48,911,958
Ensembl chr X:48,903,180...48,911,958
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G |
WDR35 |
WD repeat domain 35 |
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IAGP |
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HPO |
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OMIM:613610 OMIM:614091 |
NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
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LAMB3 |
laminin subunit beta 3 |
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IAGP |
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HPO |
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OMIM:104530 |
NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425
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TONSL |
tonsoku like, DNA repair protein |
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IAGP |
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HPO |
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ORPHA:93357 |
NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440
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ABCC9 |
ATP binding cassette subfamily C member 9 |
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IAGP |
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HPO |
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OMIM:619719 |
NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543
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CTCF |
CCCTC-binding factor |
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IAGP |
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HPO |
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OMIM:615502 |
NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177
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G |
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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G |
PURA |
purine rich element binding protein A |
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IAGP |
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HPO |
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ORPHA:438216 |
NCBI chr 5:140,114,109...140,125,619
Ensembl chr 5:140,107,777...140,125,619
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DCHS1 |
dachsous cadherin-related 1 |
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IAGP |
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HPO |
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OMIM:601390 ORPHA:314679 |
NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809
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G |
FAT4 |
FAT atypical cadherin 4 |
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IAGP |
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HPO |
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OMIM:615546 OMIM:616006 ORPHA:314679 |
NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932
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NFIX |
nuclear factor I X |
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IAGP |
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HPO |
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OMIM:602535 |
NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796
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G |
NMNAT1 |
nicotinamide nucleotide adenylyltransferase 1 |
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IAGP |
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HPO |
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OMIM:619260 |
NCBI chr 1:9,942,923...9,996,892
Ensembl chr 1:9,943,428...9,985,501
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G |
RIN2 |
Ras and Rab interactor 2 |
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IAGP |
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HPO |
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OMIM:613075 ORPHA:217335 |
NCBI chr20:19,757,599...20,002,456
Ensembl chr20:19,757,606...20,002,457
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G |
SOX9 |
SRY-box transcription factor 9 |
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IAGP |
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HPO |
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OMIM:114290 |
NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
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G |
TMEM231 |
transmembrane protein 231 |
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IAGP |
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HPO |
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ORPHA:2752 |
NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289
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ANKRD11 |
ankyrin repeat domain containing 11 |
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IAGP |
DNA:deletions, SNPs:CDS:multiple |
HPO RGD |
PMID:21782149 |
OMIM:148050 ORPHA:2332, RGD:11068938 |
NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,630...89,490,561
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G |
BRCA1 |
BRCA1 DNA repair associated |
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IAGP |
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HPO |
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OMIM:617883 |
NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245
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G |
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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G |
DHX37 |
DEAH-box helicase 37 |
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IAGP |
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HPO |
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OMIM:618731 |
NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131
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G |
IRF6 |
interferon regulatory factor 6 |
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IAGP |
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HPO |
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ORPHA:199302 |
NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
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G |
MAPK8IP3 |
mitogen-activated protein kinase 8 interacting protein 3 |
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IAGP |
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HPO |
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OMIM:618443 |
NCBI chr16:1,706,195...1,770,351
Ensembl chr16:1,706,166...1,770,351
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G |
MBD5 |
methyl-CpG binding domain protein 5 |
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IAGP |
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HPO |
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ORPHA:228402 |
NCBI chr 2:148,020,927...148,516,971
Ensembl chr 2:148,021,011...148,516,971
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G |
MGAT2 |
alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase |
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IAGP |
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HPO |
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OMIM:212066 |
NCBI chr14:49,620,799...49,623,481
Ensembl chr14:49,620,799...49,623,481
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G |
MSX1 |
msh homeobox 1 |
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IAGP |
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HPO |
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ORPHA:199302 |
NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
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G |
NECTIN1 |
nectin cell adhesion molecule 1 |
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IAGP |
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HPO |
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ORPHA:199302 |
NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
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G |
PQBP1 |
polyglutamine binding protein 1 |
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IAGP |
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HPO |
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OMIM:309500 |
NCBI chr X:48,897,930...48,903,143
Ensembl chr X:48,890,197...48,903,402
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G |
SMOC1 |
SPARC related modular calcium binding 1 |
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IAGP |
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HPO |
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ORPHA:1106 |
NCBI chr14:69,879,416...70,032,366
Ensembl chr14:69,854,131...70,032,366
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G |
TP63 |
tumor protein p63 |
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IAGP |
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HPO |
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ORPHA:199302 |
NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
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G |
VPS13B |
vacuolar protein sorting 13 homolog B |
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IAGP |
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HPO |
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ORPHA:193 |
NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580
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G |
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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G |
ATP6V1B2 |
ATPase H+ transporting V1 subunit B2 |
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IAGP |
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HPO |
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ORPHA:79500 |
NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819
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G |
BRD4 |
bromodomain containing 4 |
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IAGP |
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HPO |
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OMIM:620568 |
NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545
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G |
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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G |
CACNA1I |
calcium voltage-gated channel subunit alpha1 I |
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IAGP |
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HPO |
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OMIM:620114 |
NCBI chr22:39,570,753...39,689,735
Ensembl chr22:39,570,753...39,689,735
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G |
COL11A1 |
collagen type XI alpha 1 chain |
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IAGP |
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HPO |
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OMIM:154780 |
NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872
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G |
CTCF |
CCCTC-binding factor |
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IAGP |
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HPO |
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ORPHA:363611 |
NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177
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G |
FARS2 |
phenylalanyl-tRNA synthetase 2, mitochondrial |
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IAGP |
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HPO |
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ORPHA:466722 |
NCBI chr 6:5,249,934...5,771,583
Ensembl chr 6:5,261,044...5,829,192
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G |
GJA1 |
gap junction protein alpha 1 |
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IAGP |
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HPO |
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OMIM:257850 |
NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
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G |
GRIA3 |
glutamate ionotropic receptor AMPA type subunit 3 |
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IAGP |
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HPO |
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ORPHA:364028 |
NCBI chr X:123,184,278...123,490,915
Ensembl chr X:123,184,153...123,490,915
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G |
KCNMA1 |
potassium calcium-activated channel subfamily M alpha 1 |
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IAGP |
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HPO |
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OMIM:618729 |
NCBI chr10:76,869,602...77,637,808
Ensembl chr10:76,869,601...77,638,369
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G |
PACS2 |
phosphofurin acidic cluster sorting protein 2 |
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IAGP |
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HPO |
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OMIM:618067 |
NCBI chr14:105,300,774...105,398,147
Ensembl chr14:105,300,563...105,398,147
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G |
TBC1D24 |
TBC1 domain family member 24 |
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IAGP |
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HPO |
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ORPHA:79500 |
NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560
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G |
VPS13B |
vacuolar protein sorting 13 homolog B |
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IAGP |
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HPO |
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OMIM:216550 |
NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580
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ADGRV1 |
adhesion G protein-coupled receptor V1 |
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IAGP |
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HPO |
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ORPHA:231178 |
NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437
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G |
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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G |
ANAPC1 |
anaphase promoting complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:221008 |
NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690
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G |
ARID1B |
AT-rich interaction domain 1B |
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IAGP |
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HPO |
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OMIM:135900 |
NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
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G |
ARL6 |
ADP ribosylation factor like GTPase 6 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229
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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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G |
AXIN2 |
axin 2 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
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G |
B3GALT6 |
beta-1,3-galactosyltransferase 6 |
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IAGP |
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HPO |
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ORPHA:536467 |
NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041
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G |
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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G |
BAZ1B |
bromodomain adjacent to zinc finger domain 1B |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293
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G |
BBIP1 |
BBSome interacting protein 1 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr10:110,898,730...110,919,366
Ensembl chr10:110,898,730...110,919,201
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G |
BBS1 |
Bardet-Biedl syndrome 1 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613
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G |
BBS10 |
Bardet-Biedl syndrome 10 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr12:76,344,474...76,348,415
Ensembl chr12:76,344,474...76,348,415
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G |
BBS12 |
Bardet-Biedl syndrome 12 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 4:122,700,442...122,744,939
Ensembl chr 4:122,732,702...122,744,942
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G |
BBS2 |
Bardet-Biedl syndrome 2 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667
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G |
BBS4 |
Bardet-Biedl syndrome 4 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,179...72,738,475
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G |
BBS5 |
Bardet-Biedl syndrome 5 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 2:169,479,494...169,506,655
Ensembl chr 2:169,479,480...169,506,655
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G |
BBS7 |
Bardet-Biedl syndrome 7 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 4:121,824,329...121,870,474
Ensembl chr 4:121,824,329...121,870,487
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G |
BBS9 |
Bardet-Biedl syndrome 9 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 7:33,129,285...33,635,767
Ensembl chr 7:33,109,557...33,877,180
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G |
BCL11B |
BCL11 transcription factor B |
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IAGP |
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HPO |
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OMIM:618092 |
NCBI chr14:99,169,287...99,272,197
Ensembl chr14:99,169,287...99,272,197
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G |
BCL7B |
BAF chromatin remodeling complex subunit BCL7B |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,536,356...73,557,690
Ensembl chr 7:73,536,356...73,557,690
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G |
BUD23 |
BUD23 rRNA methyltransferase and ribosome maturation factor |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212
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G |
C1R |
complement C1r |
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IAGP |
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HPO |
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ORPHA:75392 |
NCBI chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540
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G |
C1S |
complement C1s |
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IAGP |
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HPO |
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ORPHA:75392 |
NCBI chr12:7,060,718...7,071,032
Ensembl chr12:6,988,259...7,071,032
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G |
CACNA1C |
calcium voltage-gated channel subunit alpha1 C |
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IAGP |
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HPO |
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OMIM:601005 |
NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950
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G |
CCDC47 |
coiled-coil domain containing 47 |
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IAGP |
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HPO |
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OMIM:618268 |
NCBI chr17:63,745,255...63,773,597
Ensembl chr17:63,745,255...63,776,351
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G |
CDH11 |
cadherin 11 |
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IAGP |
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HPO |
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OMIM:619736 |
NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112
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G |
CDH3 |
cadherin 3 |
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IAGP |
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HPO |
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OMIM:225280 ORPHA:1897 |
NCBI chr16:68,645,310...68,733,771
Ensembl chr16:68,636,189...68,727,468
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G |
CDK13 |
cyclin dependent kinase 13 |
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IAGP |
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HPO |
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OMIM:617360 |
NCBI chr 7:39,950,256...40,099,580
Ensembl chr 7:39,950,121...40,099,580
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G |
CEP19 |
centrosomal protein 19 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 3:196,706,277...196,712,250
Ensembl chr 3:196,706,277...196,712,250
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G |
CEP290 |
centrosomal protein 290 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
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G |
CFAP418 |
cilia and flagella associated protein 418 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201
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G |
CHST3 |
carbohydrate sulfotransferase 3 |
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IAGP |
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HPO |
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OMIM:143095 OMIM:245600 |
NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558
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G |
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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G |
CKAP2L |
cytoskeleton associated protein 2 like |
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IAGP |
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HPO |
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OMIM:272440 |
NCBI chr 2:112,736,349...112,764,609
Ensembl chr 2:112,736,349...112,764,664
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G |
CLIP2 |
CAP-Gly domain containing linker protein 2 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935
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G |
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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G |
CTCF |
CCCTC-binding factor |
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IAGP |
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HPO |
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ORPHA:363611 |
NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177
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G |
DLX3 |
distal-less homeobox 3 |
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IAGP |
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HPO |
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OMIM:190320 ORPHA:3352 |
NCBI chr17:49,990,005...49,995,224
Ensembl chr17:49,990,005...49,995,224
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G |
DNAJC21 |
DnaJ heat shock protein family (Hsp40) member C21 |
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IAGP |
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HPO |
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OMIM:617052 |
NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964
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G |
DNAJC30 |
DnaJ heat shock protein family (Hsp40) member C30 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453
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G |
DPF2 |
double PHD fingers 2 |
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IAGP |
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HPO |
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OMIM:618027 |
NCBI chr11:65,333,852...65,354,262
Ensembl chr11:65,333,843...65,354,262
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G |
DYNC2LI1 |
dynein cytoplasmic 2 light intermediate chain 1 |
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IAGP |
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HPO |
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ORPHA:289 |
NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010
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G |
EDA |
ectodysplasin A |
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IAGP |
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HPO |
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OMIM:305100 ORPHA:181 ORPHA:99798 |
NCBI chr X:69,616,113...70,039,472
Ensembl chr X:69,616,067...70,039,472
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G |
EDA2R |
ectodysplasin A2 receptor |
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IAGP |
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HPO |
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ORPHA:181 |
NCBI chr X:66,595,637...66,639,269
Ensembl chr X:66,595,637...66,639,298
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G |
EDAR |
ectodysplasin A receptor |
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IAGP |
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HPO |
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OMIM:129490 OMIM:224900 |
NCBI chr 2:108,894,471...108,989,220
Ensembl chr 2:108,894,471...108,989,372
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G |
EDARADD |
EDAR associated via death domain |
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IAGP |
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HPO |
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OMIM:129490 OMIM:224900 ORPHA:99798 |
NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915
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G |
EIF4H |
eukaryotic translation initiation factor 4H |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122
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G |
ELN |
elastin |
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IAGP |
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HPO |
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OMIM:194050 ORPHA:904 |
NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
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G |
EVC |
EvC ciliary complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:289 |
NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305
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G |
EVC2 |
EvC ciliary complex subunit 2 |
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IAGP |
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HPO |
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ORPHA:289 |
NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548
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G |
EYA1 |
EYA transcriptional coactivator and phosphatase 1 |
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IAGP |
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HPO |
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OMIM:113650 |
NCBI chr 8:71,197,433...71,548,094
Ensembl chr 8:71,197,433...71,592,025
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G |
FAM20C |
FAM20C golgi associated secretory pathway kinase |
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IAGP |
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HPO |
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OMIM:259775 |
NCBI chr 7:192,571...260,772
Ensembl chr 7:192,571...260,772
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G |
FBXO28 |
F-box protein 28 |
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IAGP |
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HPO |
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OMIM:619777 |
NCBI chr 1:224,114,111...224,162,047
Ensembl chr 1:224,114,111...224,162,047
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G |
FGF10 |
fibroblast growth factor 10 |
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IAGP |
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HPO |
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ORPHA:2363 |
NCBI chr 5:44,300,247...44,389,420
Ensembl chr 5:44,300,247...44,389,706
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G |
FGF3 |
fibroblast growth factor 3 |
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IAGP |
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HPO |
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OMIM:610706 ORPHA:90024 |
NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416
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FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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G |
FGFR2 |
fibroblast growth factor receptor 2 |
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IAGP |
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HPO |
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OMIM:149730 ORPHA:2363 |
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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G |
FGFR3 |
fibroblast growth factor receptor 3 |
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IAGP |
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HPO |
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OMIM:620192 ORPHA:2363 |
NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
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G |
FKBP6 |
FKBP prolyl isomerase family member 6 (inactive) |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637
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G |
FOXC1 |
forkhead box C1 |
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IAGP |
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HPO |
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OMIM:602482 ORPHA:782 |
NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897
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G |
GHR |
growth hormone receptor |
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IAGP |
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HPO |
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ORPHA:633 |
NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878
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G |
GJA1 |
gap junction protein alpha 1 |
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IAGP |
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HPO |
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OMIM:164200 |
NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
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G |
GJA5 |
gap junction protein alpha 5 |
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IAGP |
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HPO |
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OMIM:612474 |
NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362
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G |
GJA8 |
gap junction protein alpha 8 |
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IAGP |
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HPO |
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OMIM:612474 |
NCBI chr 1:147,902,795...147,914,486
Ensembl chr 1:147,902,795...147,909,269
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G |
GJB2 |
gap junction protein beta 2 |
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IAGP |
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HPO |
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OMIM:148210 |
NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938
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G |
GLI1 |
GLI family zinc finger 1 |
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IAGP |
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HPO |
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ORPHA:289 |
NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268
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G |
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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G |
GREM2 |
gremlin 2, DAN family BMP antagonist |
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IAGP |
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HPO |
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OMIM:617275 |
NCBI chr 1:240,489,573...240,612,155
Ensembl chr 1:240,489,573...240,612,155
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G |
GTF2I |
general transcription factor IIi |
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IAGP |
|
HPO |
|
ORPHA:904 |
NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692
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G |
GTF2IRD1 |
GTF2I repeat domain containing 1 |
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IAGP |
|
HPO |
|
ORPHA:904 |
NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605
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G |
GTF2IRD2 |
GTF2I repeat domain containing 2 |
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IAGP |
|
HPO |
|
ORPHA:904 |
NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605
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G |
H4C5 |
H4 clustered histone 5 |
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IAGP |
|
HPO |
|
OMIM:619950 |
NCBI chr 6:26,204,610...26,205,021
Ensembl chr 6:26,204,610...26,205,021
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G |
HEPHL1 |
hephaestin like 1 |
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IAGP |
|
HPO |
|
OMIM:261990 |
NCBI chr11:94,021,354...94,114,208
Ensembl chr11:94,021,354...94,114,208
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G |
HS2ST1 |
heparan sulfate 2-O-sulfotransferase 1 |
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IAGP |
|
HPO |
|
OMIM:619194 |
NCBI chr 1:86,914,635...87,109,982
Ensembl chr 1:86,914,635...87,109,982
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G |
IDUA |
alpha-L-iduronidase |
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IAGP |
|
HPO |
|
OMIM:607014 |
NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564
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G |
IFT122 |
intraflagellar transport 122 |
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IAGP |
|
HPO |
|
OMIM:218330 ORPHA:1515 |
NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510
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G |
IFT140 |
intraflagellar transport 140 |
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IAGP |
|
HPO |
|
OMIM:266920 |
NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072
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G |
IFT172 |
intraflagellar transport 172 |
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IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805
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G |
IFT27 |
intraflagellar transport 27 |
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IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr22:36,758,211...36,776,119
Ensembl chr22:36,758,202...36,776,256
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G |
IFT43 |
intraflagellar transport 43 |
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IAGP |
|
HPO |
|
ORPHA:1515 |
NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585
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G |
IFT52 |
intraflagellar transport 52 |
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IAGP |
|
HPO |
|
ORPHA:1515 |
NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299
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G |
IFT74 |
intraflagellar transport 74 |
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IAGP |
|
HPO |
|
ORPHA:110 |
NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134
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G |
IRF6 |
interferon regulatory factor 6 |
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IAGP |
|
HPO |
|
ORPHA:99798 |
NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
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G |
KAT6B |
lysine acetyltransferase 6B |
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IAGP |
|
HPO |
|
OMIM:603736 |
NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624
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G |
KDM6A |
lysine demethylase 6A |
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IAGP |
|
HPO |
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ORPHA:2322 |
NCBI chr X:44,873,188...45,112,779
Ensembl chr X:44,873,188...45,112,779
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KIAA0753 |
KIAA0753 |
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IAGP |
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HPO |
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OMIM:619479 |
NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711
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KMT2D |
lysine methyltransferase 2D |
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IAGP |
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HPO |
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ORPHA:2322 |
NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
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LIMK1 |
LIM domain kinase 1 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525
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LMBRD2 |
LMBR1 domain containing 2 |
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IAGP |
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HPO |
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OMIM:619694 |
NCBI chr 5:36,098,407...36,151,887
Ensembl chr 5:36,098,407...36,151,887
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LRP6 |
LDL receptor related protein 6 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
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LTBP3 |
latent transforming growth factor beta binding protein 3 |
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IAGP |
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HPO |
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OMIM:601216 |
NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930
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LZTFL1 |
leucine zipper transcription factor like 1 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 3:45,823,316...45,915,724
Ensembl chr 3:45,823,316...45,916,042
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MAPK1 |
mitogen-activated protein kinase 1 |
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IAGP |
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HPO |
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OMIM:619087 |
NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
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MAPRE2 |
microtubule associated protein RP/EB family member 2 |
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IAGP |
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HPO |
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OMIM:616734 |
NCBI chr18:34,977,027...35,143,470
Ensembl chr18:34,976,928...35,143,470
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MBD5 |
methyl-CpG binding domain protein 5 |
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IAGP |
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HPO |
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OMIM:156200 |
NCBI chr 2:148,020,927...148,516,971
Ensembl chr 2:148,021,011...148,516,971
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MCOLN1 |
mucolipin TRP cation channel 1 |
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IAGP |
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HPO |
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ORPHA:578 |
NCBI chr19:7,522,624...7,534,009
Ensembl chr19:7,522,624...7,534,009
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MED12 |
mediator complex subunit 12 |
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IAGP |
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HPO |
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OMIM:300895 ORPHA:2728 |
NCBI chr X:71,118,596...71,142,450
Ensembl chr X:71,118,543...71,144,103
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METTL27 |
methyltransferase like 27 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516
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MKKS |
MKKS centrosomal shuttling protein |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222
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MKS1 |
MKS transition zone complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
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MLXIPL |
MLX interacting protein like |
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IAGP |
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HPO |
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OMIM:194050 ORPHA:904 |
NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543
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MSX1 |
msh homeobox 1 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
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MYO7A |
myosin VIIA |
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IAGP |
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HPO |
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ORPHA:231178 |
NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241
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NCF1 |
neutrophil cytosolic factor 1 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315
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NECTIN1 |
nectin cell adhesion molecule 1 |
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IAGP |
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HPO |
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OMIM:225060 |
NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
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NFIX |
nuclear factor I X |
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IAGP |
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HPO |
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OMIM:602535 |
NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796
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NHP2 |
NHP2 ribonucleoprotein |
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IAGP |
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HPO |
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OMIM:224230 |
NCBI chr 5:178,149,463...178,153,885
Ensembl chr 5:178,149,463...178,153,894
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NOP10 |
NOP10 ribonucleoprotein |
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IAGP |
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HPO |
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OMIM:224230 |
NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180
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NPHP1 |
nephrocystin 1 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066
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ORC1 |
origin recognition complex subunit 1 |
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IAGP |
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HPO |
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OMIM:224690 |
NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423
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P4HB |
prolyl 4-hydroxylase subunit beta |
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IAGP |
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HPO |
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OMIM:112240 |
NCBI chr17:81,843,166...81,860,535
Ensembl chr17:81,843,159...81,860,856
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PAX9 |
paired box 9 |
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IAGP |
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HPO |
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OMIM:604625 ORPHA:99798 |
NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
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PCGF2 |
polycomb group ring finger 2 |
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IAGP |
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HPO |
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OMIM:618371 |
NCBI chr17:38,733,898...38,749,792
Ensembl chr17:38,733,898...38,749,817
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PCNT |
pericentrin |
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IAGP |
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HPO |
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OMIM:210720 ORPHA:2637 |
NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769
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PDZD7 |
PDZ domain containing 7 |
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IAGP |
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HPO |
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ORPHA:231178 |
NCBI chr10:101,007,679...101,031,129
Ensembl chr10:101,007,679...101,032,295
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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 OMIM:301072 |
NCBI chr X:15,319,451...15,335,554
Ensembl chr X:15,319,452...15,335,554
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PIGF |
phosphatidylinositol glycan anchor biosynthesis class F |
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IAGP |
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HPO |
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OMIM:619356 |
NCBI chr 2:46,580,937...46,617,041
Ensembl chr 2:46,580,937...46,617,055
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PIGL |
phosphatidylinositol glycan anchor biosynthesis class L |
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IAGP |
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HPO |
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ORPHA:3474 |
NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797
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PIK3C2A |
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha |
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IAGP |
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HPO |
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ORPHA:557003 |
NCBI chr11:17,086,575...17,207,986
Ensembl chr11:17,077,730...17,207,986
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PIK3R1 |
phosphoinositide-3-kinase regulatory subunit 1 |
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IAGP |
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HPO |
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ORPHA:3163 |
NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821
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PITX2 |
paired like homeodomain 2 |
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IAGP |
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HPO |
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OMIM:180500 ORPHA:782 |
NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123
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PLXNA1 |
plexin A1 |
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IAGP |
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HPO |
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OMIM:619955 |
NCBI chr 3:126,983,115...127,037,389
Ensembl chr 3:126,982,693...127,037,389
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PLXND1 |
plexin D1 |
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IAGP |
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HPO |
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ORPHA:570 |
NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676
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PRIM1 |
DNA primase subunit 1 |
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IAGP |
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HPO |
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OMIM:620005 |
NCBI chr12:56,731,580...56,752,323
Ensembl chr12:56,730,438...56,752,374
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PRKACA |
protein kinase cAMP-activated catalytic subunit alpha |
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IAGP |
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HPO |
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ORPHA:289 |
NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084
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PRKACB |
protein kinase cAMP-activated catalytic subunit beta |
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IAGP |
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HPO |
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ORPHA:289 |
NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498
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PRKD1 |
protein kinase D1 |
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IAGP |
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HPO |
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OMIM:617364 |
NCBI chr14:29,576,479...29,927,847
Ensembl chr14:29,576,479...30,191,898
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RBBP8 |
RB binding protein 8, endonuclease |
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IAGP |
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HPO |
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OMIM:606744 |
NCBI chr18:22,914,139...23,026,486
Ensembl chr18:22,798,261...23,026,488
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RECQL4 |
RecQ like helicase 4 |
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IAGP |
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HPO |
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OMIM:268400 ORPHA:221016 |
NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
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REV3L |
REV3 like, DNA directed polymerase zeta catalytic subunit |
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IAGP |
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HPO |
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ORPHA:570 |
NCBI chr 6:111,299,033...111,483,711
Ensembl chr 6:111,299,028...111,483,715
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RFC2 |
replication factor C subunit 2 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458
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RHOA |
ras homolog family member A |
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IAGP |
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HPO |
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OMIM:618727 |
NCBI chr 3:49,359,145...49,411,976
Ensembl chr 3:49,359,139...49,412,998
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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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OMIM:607095 |
NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017
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SATB2 |
SATB homeobox 2 |
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IAGP |
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HPO |
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ORPHA:251028 |
NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266
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SCAPER |
S-phase cyclin A associated protein in the ER |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr15:76,347,904...76,905,340
Ensembl chr15:76,347,904...76,905,444
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SCLT1 |
sodium channel and clathrin linker 1 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 4:128,873,241...129,093,539
Ensembl chr 4:128,864,921...129,093,600
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SCNM1 |
sodium channel modifier 1 |
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IAGP |
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HPO |
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OMIM:620107 |
NCBI chr 1:151,166,144...151,170,296
Ensembl chr 1:151,156,664...151,170,296
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SDCCAG8 |
SHH signaling and ciliogenesis regulator SDCCAG8 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091
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SEC23A |
SEC23 homolog A, COPII coat complex component |
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IAGP |
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HPO |
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ORPHA:50814 |
NCBI chr14:39,031,919...39,103,235
Ensembl chr14:39,031,919...39,109,646
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SIX1 |
SIX homeobox 1 |
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IAGP |
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HPO |
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OMIM:113650 |
NCBI chr14:60,643,421...60,649,477
Ensembl chr14:60,643,421...60,658,259
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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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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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SMARCAL1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 |
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IAGP |
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HPO |
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OMIM:242900 ORPHA:1830 |
NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053
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SMC3 |
structural maintenance of chromosomes 3 |
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IAGP |
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HPO |
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OMIM:610759 |
NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,684...110,606,048
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SMOC2 |
SPARC related modular calcium binding 2 |
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IAGP |
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HPO |
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OMIM:125400 |
NCBI chr 6:168,441,184...168,667,992
Ensembl chr 6:168,441,151...168,673,445
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SRCAP |
Snf2 related CREBBP activator protein |
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IAGP |
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HPO |
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OMIM:136140 ORPHA:2044 |
NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409
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STX1A |
syntaxin 1A |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672
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SUMO1 |
small ubiquitin like modifier 1 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
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TBL2 |
transducin beta like 2 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791
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TCF12 |
transcription factor 12 |
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IAGP |
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HPO |
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OMIM:619718 |
NCBI chr15:56,918,090...57,291,310
Ensembl chr15:56,918,623...57,299,281
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TFAP2A |
transcription factor AP-2 alpha |
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IAGP |
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HPO |
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ORPHA:1297 |
NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659
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TGFA |
transforming growth factor alpha |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
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TMEM270 |
transmembrane protein 270 |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890
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TONSL |
tonsoku like, DNA repair protein |
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IAGP |
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HPO |
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ORPHA:93357 |
NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440
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TP63 |
tumor protein p63 |
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IAGP |
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HPO |
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OMIM:103285 OMIM:129400 OMIM:604292 ORPHA:1896 |
NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
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TRIM32 |
tripartite motif containing 32 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300
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TRPS1 |
transcriptional repressor GATA binding 1 |
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IAGP |
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HPO |
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OMIM:190350 |
NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673
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TTC8 |
tetratricopeptide repeat domain 8 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr14:88,824,153...88,881,079
Ensembl chr14:88,824,153...88,881,078
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TWIST2 |
twist family bHLH transcription factor 2 |
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IAGP |
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HPO |
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ORPHA:920 |
NCBI chr 2:238,848,085...238,910,534
Ensembl chr 2:238,848,032...238,910,534
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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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UBR1 |
ubiquitin protein ligase E3 component n-recognin 1 |
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IAGP |
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HPO |
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ORPHA:2315 |
NCBI chr15:42,942,897...43,106,038
Ensembl chr15:42,942,897...43,106,113
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USH2A |
usherin |
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IAGP |
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HPO |
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ORPHA:231178 |
NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
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VPS37D |
VPS37D subunit of ESCRT-I |
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IAGP |
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HPO |
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ORPHA:904 |
NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112
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WDPCP |
WD repeat containing planar cell polarity effector |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 2:63,119,559...63,840,826
Ensembl chr 2:63,119,559...63,827,843
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WDR19 |
WD repeat domain 19 |
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IAGP |
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HPO |
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ORPHA:1515 |
NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
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WDR35 |
WD repeat domain 35 |
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IAGP |
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HPO |
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OMIM:613610 OMIM:614091 ORPHA:1515 |
NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
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WDR4 |
WD repeat domain 4 |
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IAGP |
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HPO |
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OMIM:618347 |
NCBI chr21:42,843,094...42,892,998
Ensembl chr21:42,843,094...42,879,568
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WHRN |
whirlin |
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IAGP |
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HPO |
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ORPHA:231178 |
NCBI chr 9:114,402,080...114,505,473
Ensembl chr 9:114,402,080...114,505,473
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WNT10A |
Wnt family member 10A |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
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WNT10B |
Wnt family member 10B |
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IAGP |
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HPO |
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OMIM:617073 ORPHA:99798 |
NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735
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MSX1 |
msh homeobox 1 |
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IAGP |
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HPO |
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OMIM:189500 |
NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
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SNRPN |
small nuclear ribonucleoprotein polypeptide N |
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IAGP |
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HPO |
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ORPHA:177907 |
NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723
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TMCO1 |
transmembrane and coiled-coil domains 1 |
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IAGP |
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HPO |
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OMIM:213980 |
NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755
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NHS |
NHS actin remodeling regulator |
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IAGP |
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HPO |
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OMIM:302350 |
NCBI chr X:17,375,200...17,735,994
Ensembl chr X:17,375,200...17,735,994
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DPH2 |
diphthamide biosynthesis 2 |
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IAGP |
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HPO |
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OMIM:620062 |
NCBI chr 1:43,970,010...43,973,369
Ensembl chr 1:43,970,000...43,973,369
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PPP1R13L |
protein phosphatase 1 regulatory subunit 13 like |
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IAGP |
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HPO |
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OMIM:620519 |
NCBI chr19:45,379,638...45,406,361
Ensembl chr19:45,379,638...45,406,349
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ARHGAP29 |
Rho GTPase activating protein 29 |
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IAGP |
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HPO |
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ORPHA:199306 |
NCBI chr 1:94,168,905...94,314,592
Ensembl chr 1:94,148,988...94,275,068
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ARHGEF38 |
Rho guanine nucleotide exchange factor 38 |
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IAGP |
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HPO |
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ORPHA:199306 |
NCBI chr 4:105,552,620...105,682,566
Ensembl chr 4:105,552,620...105,708,093
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AXIN2 |
axin 2 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
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BMP4 |
bone morphogenetic protein 4 |
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IAGP |
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HPO |
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ORPHA:199306 |
NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
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CDH1 |
cadherin 1 |
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IAGP |
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HPO |
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ORPHA:199306 |
NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
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COBLL1 |
cordon-bleu WH2 repeat protein like 1 |
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IAGP |
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HPO |
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ORPHA:199306 |
NCBI chr 2:164,657,931...164,842,076
Ensembl chr 2:164,653,624...164,843,679
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DLG1 |
discs large MAGUK scaffold protein 1 |
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IAGP |
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HPO |
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ORPHA:199306 |
NCBI chr 3:197,042,560...197,299,321
Ensembl chr 3:197,042,560...197,299,330
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DLX4 |
distal-less homeobox 4 |
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IAGP |
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HPO |
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ORPHA:199306 |
NCBI chr17:49,968,572...49,974,959
Ensembl chr17:49,968,588...49,974,959
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EDA |
ectodysplasin A |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr X:69,616,113...70,039,472
Ensembl chr X:69,616,067...70,039,472
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EDARADD |
EDAR associated via death domain |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915
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FGF3 |
fibroblast growth factor 3 |
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IAGP |
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HPO |
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OMIM:610706 |
NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416
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FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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IRF6 |
interferon regulatory factor 6 |
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IAGP |
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HPO |
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ORPHA:199306 ORPHA:99798 |
NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
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KAT6A |
lysine acetyltransferase 6A |
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IAGP |
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HPO |
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OMIM:616268 |
NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994
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LRP6 |
LDL receptor related protein 6 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
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MSX1 |
msh homeobox 1 |
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IAGP |
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HPO |
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ORPHA:199306 ORPHA:99798 |
NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
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NECTIN1 |
nectin cell adhesion molecule 1 |
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IAGP |
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HPO |
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ORPHA:199306 |
NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
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NEK1 |
NIMA related kinase 1 |
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IAGP |
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HPO |
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ORPHA:2751 |
NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632
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PAX9 |
paired box 9 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
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PDGFRA |
platelet derived growth factor receptor alpha |
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IAGP |
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HPO |
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ORPHA:199306 |
NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
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RIC1 |
RIC1 homolog, RAB6A GEF complex partner 1 |
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IAGP |
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HPO |
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ORPHA:199306 |
NCBI chr 9:5,629,107...5,778,633
Ensembl chr 9:5,629,025...5,776,557
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SUMO1 |
small ubiquitin like modifier 1 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
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TGFA |
transforming growth factor alpha |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
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TP63 |
tumor protein p63 |
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IAGP |
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HPO |
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ORPHA:199306 |
NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
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WNT10A |
Wnt family member 10A |
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IAGP |
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HPO |
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OMIM:150400 ORPHA:99798 |
NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
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WNT10B |
Wnt family member 10B |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735
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BCOR |
BCL6 corepressor |
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IAGP |
DNA:mutations:cds: |
HPO RGD |
PMID:15004558 |
OMIM:300166, RGD:1600504 |
NCBI chr X:40,051,246...40,177,329
Ensembl chr X:40,049,815...40,177,329
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CDH11 |
cadherin 11 |
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IAGP |
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HPO |
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ORPHA:1299 |
NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112
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NHS |
NHS actin remodeling regulator |
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IAGP |
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HPO |
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OMIM:302350 |
NCBI chr X:17,375,200...17,735,994
Ensembl chr X:17,375,200...17,735,994
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CKAP2L |
cytoskeleton associated protein 2 like |
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IAGP |
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HPO |
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OMIM:272440 |
NCBI chr 2:112,736,349...112,764,609
Ensembl chr 2:112,736,349...112,764,664
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AXIN2 |
axin 2 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
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EDA |
ectodysplasin A |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr X:69,616,113...70,039,472
Ensembl chr X:69,616,067...70,039,472
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EDARADD |
EDAR associated via death domain |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915
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FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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IFIH1 |
interferon induced with helicase C domain 1 |
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IAGP |
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HPO |
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OMIM:182250 |
NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
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IRF6 |
interferon regulatory factor 6 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
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LRP6 |
LDL receptor related protein 6 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
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MSX1 |
msh homeobox 1 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
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PAX9 |
paired box 9 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
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SMOC2 |
SPARC related modular calcium binding 2 |
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IAGP |
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HPO |
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OMIM:125400 |
NCBI chr 6:168,441,184...168,667,992
Ensembl chr 6:168,441,151...168,673,445
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SUMO1 |
small ubiquitin like modifier 1 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
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TGFA |
transforming growth factor alpha |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
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TONSL |
tonsoku like, DNA repair protein |
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IAGP |
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HPO |
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OMIM:271510 ORPHA:93357 |
NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440
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WNT10A |
Wnt family member 10A |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
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WNT10B |
Wnt family member 10B |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735
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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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ORPHA:2834 |
NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,353...123,761,755
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ATP6V1B2 |
ATPase H+ transporting V1 subunit B2 |
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IAGP |
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HPO |
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ORPHA:79499 |
NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819
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TP63 |
tumor protein p63 |
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IAGP |
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HPO |
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OMIM:129400 |
NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
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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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CREBBP |
CREB binding protein |
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IAGP |
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HPO |
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OMIM:180849 ORPHA:353277 ORPHA:353281 |
NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
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EP300 |
E1A binding protein p300 |
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IAGP |
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HPO |
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OMIM:180849 OMIM:613684 ORPHA:353284 |
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
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NEK1 |
NIMA related kinase 1 |
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IAGP |
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HPO |
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ORPHA:2751 |
NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632
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AXIN2 |
axin 2 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
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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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CHD3 |
chromodomain helicase DNA binding protein 3 |
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IAGP |
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HPO |
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OMIM:618205 |
NCBI chr17:7,884,796...7,912,755
Ensembl chr17:7,884,796...7,912,760
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CTC1 |
CST telomere replication complex component 1 |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058
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DEAF1 |
DEAF1 transcription factor |
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IAGP |
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HPO |
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ORPHA:819 |
NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118
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DKC1 |
dyskerin pseudouridine synthase 1 |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr X:154,762,864...154,777,689
Ensembl chr X:154,762,742...154,777,689
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DLX3 |
distal-less homeobox 3 |
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IAGP |
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HPO |
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OMIM:104510 OMIM:190320 ORPHA:3352 |
NCBI chr17:49,990,005...49,995,224
Ensembl chr17:49,990,005...49,995,224
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EDA |
ectodysplasin A |
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IAGP |
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HPO |
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OMIM:305100 ORPHA:99798 |
NCBI chr X:69,616,113...70,039,472
Ensembl chr X:69,616,067...70,039,472
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EDARADD |
EDAR associated via death domain |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915
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ENAM |
enamelin |
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IAGP |
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HPO |
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OMIM:204650 |
NCBI chr 4:70,628,744...70,646,824
Ensembl chr 4:70,628,744...70,646,824
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FGF3 |
fibroblast growth factor 3 |
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IAGP |
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HPO |
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ORPHA:2791 |
NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416
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FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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FLII |
FLII actin remodeling protein |
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IAGP |
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HPO |
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ORPHA:819 |
NCBI chr17:18,244,815...18,259,022
Ensembl chr17:18,244,815...18,258,738
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GALNT3 |
polypeptide N-acetylgalactosaminyltransferase 3 |
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IAGP |
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HPO |
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OMIM:211900 |
NCBI chr 2:165,747,588...165,794,692
Ensembl chr 2:165,747,588...165,846,201
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GJA1 |
gap junction protein alpha 1 |
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IAGP |
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HPO |
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OMIM:164200 ORPHA:2710 |
NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
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GREM2 |
gremlin 2, DAN family BMP antagonist |
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IAGP |
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HPO |
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OMIM:617275 |
NCBI chr 1:240,489,573...240,612,155
Ensembl chr 1:240,489,573...240,612,155
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IFT122 |
intraflagellar transport 122 |
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IAGP |
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HPO |
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ORPHA:1515 |
NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510
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IFT43 |
intraflagellar transport 43 |
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IAGP |
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HPO |
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ORPHA:1515 |
NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585
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IFT52 |
intraflagellar transport 52 |
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IAGP |
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HPO |
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ORPHA:1515 |
NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299
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IQSEC2 |
IQ motif and Sec7 domain ArfGEF 2 |
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IAGP |
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HPO |
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ORPHA:819 |
NCBI chr X:53,225,813...53,321,350
Ensembl chr X:53,225,828...53,321,350
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IRF6 |
interferon regulatory factor 6 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
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G |
LAMB3 |
laminin subunit beta 3 |
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IAGP |
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HPO |
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OMIM:104530 |
NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425
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G |
LRP6 |
LDL receptor related protein 6 |
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IAGP |
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HPO |
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OMIM:616724 ORPHA:99798 |
NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
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G |
MSX1 |
msh homeobox 1 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
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NEK1 |
NIMA related kinase 1 |
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IAGP |
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HPO |
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ORPHA:2751 |
NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632
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NHP2 |
NHP2 ribonucleoprotein |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr 5:178,149,463...178,153,885
Ensembl chr 5:178,149,463...178,153,894
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NOP10 |
NOP10 ribonucleoprotein |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180
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NPM1 |
nucleophosmin 1 |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810
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OCRL |
OCRL inositol polyphosphate-5-phosphatase |
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IAGP |
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HPO |
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ORPHA:534 |
NCBI chr X:129,540,259...129,592,556
Ensembl chr X:129,539,849...129,592,561
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PARN |
poly(A)-specific ribonuclease |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728
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G |
PAX9 |
paired box 9 |
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IAGP |
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HPO |
|
ORPHA:99798 |
NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
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G |
PEX1 |
peroxisomal biogenesis factor 1 |
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IAGP |
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HPO |
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ORPHA:3220 |
NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520
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G |
PEX6 |
peroxisomal biogenesis factor 6 |
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IAGP |
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HPO |
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ORPHA:3220 |
NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181
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G |
RAI1 |
retinoic acid induced 1 |
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IAGP |
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HPO |
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ORPHA:819 |
NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453
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RTEL1 |
regulator of telomere elongation helicase 1 |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
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SMOC2 |
SPARC related modular calcium binding 2 |
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IAGP |
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HPO |
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OMIM:125400 |
NCBI chr 6:168,441,184...168,667,992
Ensembl chr 6:168,441,151...168,673,445
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SUMO1 |
small ubiquitin like modifier 1 |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
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TERC |
telomerase RNA component |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047 Ensembl chr 3:169,764,610...169,765,047
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TERT |
telomerase reverse transcriptase |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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TGFA |
transforming growth factor alpha |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
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TINF2 |
TERF1 interacting nuclear factor 2 |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663
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TP63 |
tumor protein p63 |
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IAGP |
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HPO |
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OMIM:129400 ORPHA:1896 |
NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
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TYMS |
thymidylate synthetase |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578
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USB1 |
U6 snRNA biogenesis phosphodiesterase 1 |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618
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WDR19 |
WD repeat domain 19 |
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IAGP |
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HPO |
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OMIM:614378 ORPHA:1515 |
NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
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WDR35 |
WD repeat domain 35 |
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IAGP |
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HPO |
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ORPHA:1515 |
NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
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WNT10A |
Wnt family member 10A |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
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WNT10B |
Wnt family member 10B |
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IAGP |
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HPO |
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ORPHA:99798 |
NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735
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WRAP53 |
WD repeat containing antisense to TP53 |
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IAGP |
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HPO |
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ORPHA:1775 |
NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502
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Term paths to the root
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