Term: | Otitis media |
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Accession: | HP:0000388
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browse the term
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Definition: | Inflammation or infection of the middle ear. |
Synonyms: | exact_synonym: | Middle ear infection |
| xref: | EFO:0004992; SNOMEDCT_US:65363002; UMLS:C0029882 |
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A2ML1 |
alpha-2-macroglobulin like 1 |
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IAGP |
ClinVar Annotator: match by term: Otitis media |
ClinVar |
PMID:16199547 PMID:25862627 PMID:28492532 PMID:31009165 |
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NCBI chr12:8,822,621...8,887,459
Ensembl chr12:8,822,621...8,887,001
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A2ML1-AS1 |
A2ML1 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Otitis media |
ClinVar |
PMID:28492532 PMID:31009165 |
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NCBI chr12:8,776,211...8,831,306
Ensembl chr12:8,776,219...8,830,947
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ALMS1 |
ALMS1 centrosome and basal body associated protein |
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IAGP |
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HPO |
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MIM:203800 ORPHA:64 |
NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166
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ARL6 |
ARF 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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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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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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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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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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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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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 chr15:72,686,186...72,742,006
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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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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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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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BLM |
BLM RecQ like helicase |
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IAGP |
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HPO |
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ORPHA:125 |
NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166
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CCDC39 |
coiled-coil domain 39 molecular ruler complex subunit |
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IAGP |
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HPO |
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MIM:613807 |
NCBI chr 3:180,614,008...180,679,489
Ensembl chr 3:180,602,858...180,684,942
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CD19 |
CD19 molecule |
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IAGP |
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HPO |
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ORPHA:1572 |
NCBI chr16:28,931,971...28,939,342
Ensembl chr16:28,931,965...28,939,342
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CD247 |
CD247 molecule |
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IAGP |
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HPO |
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ORPHA:169160 |
NCBI chr 1:167,430,640...167,518,529
Ensembl chr 1:167,425,027...167,518,640
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CD3D |
CD3 delta subunit of T-cell receptor complex |
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IAGP |
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HPO |
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ORPHA:169160 |
NCBI chr11:118,338,954...118,342,705
Ensembl chr11:118,334,537...118,342,705
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CD3E |
CD3 epsilon subunit of T-cell receptor complex |
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IAGP |
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HPO |
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ORPHA:169160 |
NCBI chr11:118,304,730...118,316,173
Ensembl chr11:118,304,730...118,316,175
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CD81 |
CD81 molecule |
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IAGP |
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HPO |
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ORPHA:1572 |
NCBI chr11:2,376,180...2,397,397
Ensembl chr11:2,376,177...2,397,802
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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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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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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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CLCN7 |
chloride voltage-gated channel 7 |
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IAGP |
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HPO |
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ORPHA:667 |
NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077
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CR2 |
complement C3d receptor 2 |
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IAGP |
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HPO |
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ORPHA:1572 |
NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,453,024...207,489,895
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CREBBP |
CREB binding protein |
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IAGP |
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HPO |
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ORPHA:353277 ORPHA:353281 |
NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
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CTLA4 |
cytotoxic T-lymphocyte associated protein 4 |
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IAGP |
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HPO |
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ORPHA:900 |
NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
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CX3CR1 |
C-X3-C motif chemokine receptor 1 |
susceptibility |
IAGP |
DNA:missense mutation:cds:p.T280M |
RGD |
PMID:24718616 |
RGD:9491764 |
NCBI chr 3:39,263,494...39,292,966
Ensembl chr 3:39,263,495...39,281,735
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CXCR4 |
C-X-C motif chemokine receptor 4 |
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IAGP |
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HPO |
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ORPHA:51636 |
NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177
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CYBA |
cytochrome b-245 alpha chain |
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IAGP |
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HPO |
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ORPHA:379 |
NCBI chr16:88,643,289...88,651,053
Ensembl chr16:88,643,275...88,651,083
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CYBB |
cytochrome b-245 beta chain |
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IAGP |
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HPO |
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ORPHA:379 |
NCBI chr X:37,780,059...37,813,461
Ensembl chr X:37,780,018...37,813,461
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CYBC1 |
cytochrome b-245 chaperone 1 |
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IAGP |
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HPO |
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ORPHA:379 |
NCBI chr17:82,442,586...82,450,752
Ensembl chr17:82,440,912...82,450,829
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DCLRE1C |
DNA cross-link repair 1C |
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IAGP |
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HPO |
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MIM:602450 ORPHA:275 |
NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432
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DNAAF3 |
dynein axonemal assembly factor 3 |
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IAGP |
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HPO |
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MIM:606763 |
NCBI chr19:55,158,661...55,166,722
Ensembl chr19:55,158,661...55,166,722
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ELANE |
elastase, neutrophil expressed |
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IAGP |
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HPO |
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ORPHA:2686 |
NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247
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EP300 |
E1A binding protein p300 |
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IAGP |
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HPO |
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ORPHA:353284 |
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
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FGFR2 |
fibroblast growth factor receptor 2 |
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IAGP |
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HPO |
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ORPHA:87 |
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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FMR1 |
fragile X messenger ribonucleoprotein 1 |
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IAGP |
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HPO |
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ORPHA:908 |
NCBI chr X:147,911,919...147,951,125
Ensembl chr X:147,911,919...147,951,125
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G6PC3 |
glucose-6-phosphatase catalytic subunit 3 |
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IAGP |
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HPO |
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MIM:612541 |
NCBI chr17:44,070,673...44,076,344
Ensembl chr17:44,070,620...44,082,151
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GNPTAB |
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta |
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IAGP |
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HPO |
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ORPHA:576 |
NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959
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HLA-DPA1 |
major histocompatibility complex, class II, DP alpha 1 |
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IAGP |
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HPO |
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ORPHA:900 |
NCBI chr 6:33,064,569...33,080,748
Ensembl chr 6:33,064,569...33,080,775
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HLA-DPB1 |
major histocompatibility complex, class II, DP beta 1 |
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IAGP |
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HPO |
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ORPHA:900 |
NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696
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ICOS |
inducible T cell costimulator |
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IAGP |
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HPO |
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ORPHA:1572 |
NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577
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IFT172 |
intraflagellar transport 172 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805
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IFT27 |
intraflagellar transport 27 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr22:36,758,211...36,776,119
Ensembl chr22:36,758,202...36,776,256
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IFT74 |
intraflagellar transport 74 |
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IAGP |
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HPO |
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ORPHA:110 |
NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134
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IL10 |
interleukin 10 |
susceptibility |
IAGP |
DNA:SNP:promoter:-1082G>A associated with respiratory syncytial virus infectious disease, associated with common cold, DNA:SNPs, haplotypes:promoter:-1082G>A, -819T>C, -592A>C |
RGD |
PMID:17908769 PMID:18560870 |
RGD:7365054, RGD:7365038 |
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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IL2RG |
interleukin 2 receptor subunit gamma |
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IAGP |
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HPO |
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MIM:312863 |
NCBI chr X:71,107,404...71,111,577
Ensembl chr X:71,107,404...71,112,108
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IL7R |
interleukin 7 receptor |
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IAGP |
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HPO |
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MIM:608971 |
NCBI chr 5:35,856,891...35,879,603
Ensembl chr 5:35,852,695...35,879,603
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IRF2BP2 |
interferon regulatory factor 2 binding protein 2 |
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IAGP |
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HPO |
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ORPHA:1572 |
NCBI chr 1:234,604,269...234,610,178
Ensembl chr 1:234,602,300...234,610,178
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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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MAN2B1 |
mannosidase alpha class 2B member 1 |
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IAGP |
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HPO |
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ORPHA:309282 |
NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,643,831...12,666,742
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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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MS4A1 |
membrane spanning 4-domains A1 |
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IAGP |
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HPO |
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ORPHA:1572 |
NCBI chr11:60,455,847...60,470,752
Ensembl chr11:60,455,846...60,470,752
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NCF1 |
neutrophil cytosolic factor 1 |
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IAGP |
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HPO |
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ORPHA:379 |
NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315
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NCF2 |
neutrophil cytosolic factor 2 |
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IAGP |
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HPO |
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ORPHA:379 |
NCBI chr 1:183,555,562...183,601,849
Ensembl chr 1:183,554,461...183,590,905
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NCF4 |
neutrophil cytosolic factor 4 |
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IAGP |
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HPO |
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ORPHA:379 |
NCBI chr22:36,861,006...36,878,015
Ensembl chr22:36,860,988...36,878,017
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NEK10 |
NIMA related kinase 10 |
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IAGP |
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HPO |
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MIM:618781 |
NCBI chr 3:27,106,484...27,369,383
Ensembl chr 3:27,106,484...27,369,460
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NFKB1 |
nuclear factor kappa B subunit 1 |
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IAGP |
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HPO |
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ORPHA:1572 |
NCBI chr 4:102,501,359...102,617,302
Ensembl chr 4:102,501,330...102,617,302
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NFKB2 |
nuclear factor kappa B subunit 2 |
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IAGP |
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HPO |
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ORPHA:1572 |
NCBI chr10:102,394,110...102,402,529
Ensembl chr10:102,394,110...102,402,524
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NIPBL |
NIPBL cohesin loading factor |
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IAGP |
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HPO |
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MIM:122470 |
NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413
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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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NSD1 |
nuclear receptor binding SET domain protein 1 |
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IAGP |
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HPO |
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MIM:117550 |
NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
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PNP |
purine nucleoside phosphorylase |
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IAGP |
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HPO |
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MIM:613179 |
NCBI chr14:20,469,406...20,477,089
Ensembl chr14:20,461,992...20,477,094
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PRKCD |
protein kinase C delta |
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IAGP |
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HPO |
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ORPHA:1572 |
NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717
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PRTN3 |
proteinase 3 |
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IAGP |
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HPO |
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ORPHA:900 |
NCBI chr19:840,999...848,175
Ensembl chr19:840,999...848,175
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PTPN22 |
protein tyrosine phosphatase non-receptor type 22 |
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IAGP |
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HPO |
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ORPHA:900 |
NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
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RAG1 |
recombination activating 1 |
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IAGP |
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HPO |
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MIM:601457 |
NCBI chr11:36,510,353...36,579,762
Ensembl chr11:36,510,372...36,593,156
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RAG2 |
recombination activating 2 |
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IAGP |
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HPO |
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MIM:601457 |
NCBI chr11:36,590,996...36,598,236
Ensembl chr11:36,575,574...36,598,279
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RNF168 |
ring finger protein 168 |
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IAGP |
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HPO |
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ORPHA:420741 |
NCBI chr 3:196,468,783...196,503,768
Ensembl chr 3:196,468,783...196,503,768
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RPGR |
retinitis pigmentosa GTPase regulator |
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IAGP |
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HPO |
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MIM:300455 |
NCBI chr X:38,269,163...38,327,509
Ensembl chr X:38,269,163...38,327,544
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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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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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SNX10 |
sorting nexin 10 |
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IAGP |
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HPO |
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ORPHA:667 |
NCBI chr 7:26,291,862...26,374,383
Ensembl chr 7:26,291,862...26,374,383
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SPTBN1 |
spectrin beta, non-erythrocytic 1 |
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IAGP |
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HPO |
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MIM:619475 |
NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446
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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:667 |
NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
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TLK2 |
tousled like kinase 2 |
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IAGP |
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HPO |
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MIM:618050 |
NCBI chr17:62,470,914...62,615,481
Ensembl chr17:62,458,658...62,615,481
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TNFRSF13B |
TNF receptor superfamily member 13B |
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IAGP |
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HPO |
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ORPHA:1572 |
NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118
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TNFRSF13C |
TNF receptor superfamily member 13C |
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IAGP |
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HPO |
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ORPHA:1572 |
NCBI chr22:41,922,032...41,926,806
Ensembl chr22:41,922,032...41,926,806
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TNFSF11 |
TNF superfamily member 11 |
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IAGP |
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HPO |
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ORPHA:667 |
NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013
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TNFSF12 |
TNF superfamily member 12 |
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IAGP |
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HPO |
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ORPHA:1572 |
NCBI chr17:7,549,058...7,557,881
Ensembl chr17:7,548,508...7,557,890
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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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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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WAS |
WASP actin nucleation promoting factor |
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IAGP |
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HPO |
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ORPHA:906 |
NCBI chr X:48,676,636...48,691,427
Ensembl chr X:48,676,596...48,691,431
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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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WIPF1 |
WAS/WASL interacting protein family member 1 |
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IAGP |
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HPO |
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ORPHA:906 |
NCBI chr 2:174,559,574...174,682,913
Ensembl chr 2:174,559,572...174,682,916
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CIITA |
class II major histocompatibility complex transactivator |
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IAGP |
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HPO |
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ORPHA:572 |
NCBI chr16:10,866,206...10,943,021
Ensembl chr16:10,866,222...10,943,021
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JAK3 |
Janus kinase 3 |
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IAGP |
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HPO |
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ORPHA:35078 |
NCBI chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071
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RFX5 |
regulatory factor X5 |
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IAGP |
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HPO |
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ORPHA:572 |
NCBI chr 1:151,340,640...151,347,252
Ensembl chr 1:151,340,640...151,347,326
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RFXANK |
regulatory factor X associated ankyrin containing protein |
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IAGP |
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HPO |
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ORPHA:572 |
NCBI chr19:19,192,258...19,201,866
Ensembl chr19:19,192,229...19,201,869
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RFXAP |
regulatory factor X associated protein |
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IAGP |
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HPO |
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ORPHA:572 |
NCBI chr13:36,819,222...36,829,104
Ensembl chr13:36,819,222...36,829,104
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TPP2 |
tripeptidyl peptidase 2 |
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IAGP |
ClinVar Annotator: match by term: Acute middle ear infection |
ClinVar |
PMID:33586135 |
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NCBI chr13:102,596,986...102,679,958
Ensembl chr13:102,596,958...102,679,958
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ABCA12 |
ATP binding cassette subfamily A member 12 |
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IAGP |
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HPO |
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ORPHA:313 |
NCBI chr 2:214,931,542...215,138,626
Ensembl chr 2:214,931,542...215,138,626
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AGA |
aspartylglucosaminidase |
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IAGP |
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HPO |
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ORPHA:93 |
NCBI chr 4:177,430,774...177,442,437
Ensembl chr 4:177,430,774...177,442,437
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AK2 |
adenylate kinase 2 |
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IAGP |
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HPO |
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ORPHA:33355 |
NCBI chr 1:33,007,940...33,036,883
Ensembl chr 1:33,007,986...33,080,996
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ALOX12B |
arachidonate 12-lipoxygenase, 12R type |
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IAGP |
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HPO |
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ORPHA:313 |
NCBI chr17:8,072,636...8,087,716
Ensembl chr17:8,072,636...8,087,716
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ALOXE3 |
arachidonate epidermal lipoxygenase 3 |
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IAGP |
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HPO |
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ORPHA:313 |
NCBI chr17:8,095,900...8,118,916
Ensembl chr17:8,095,900...8,119,047
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ANKRD11 |
ankyrin repeat domain containing 11 |
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IAGP |
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HPO |
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ORPHA:261250 |
NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,619...89,490,561
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APC2 |
APC regulator of WNT signaling pathway 2 |
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IAGP |
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HPO |
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ORPHA:821 |
NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244
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ARVCF |
ARVCF delta catenin family member |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823
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ASPRV1 |
aspartic peptidase retroviral like 1 |
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IAGP |
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HPO |
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ORPHA:313 |
NCBI chr 2:69,932,717...70,087,375
Ensembl chr 2:69,960,089...69,961,631
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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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BLNK |
B cell linker |
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IAGP |
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HPO |
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ORPHA:33110 |
NCBI chr10:96,189,171...96,271,569
Ensembl chr10:96,189,171...96,271,587
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BMP4 |
bone morphogenetic protein 4 |
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IAGP |
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HPO |
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ORPHA:828 |
NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
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BTK |
Bruton tyrosine kinase |
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IAGP |
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HPO |
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ORPHA:47 |
NCBI chr X:101,349,450...101,390,796
Ensembl chr X:101,349,338...101,390,796
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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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CARMIL2 |
capping protein regulator and myosin 1 linker 2 |
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IAGP |
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HPO |
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MIM:618131 |
NCBI chr16:67,645,144...67,657,569
Ensembl chr16:67,644,988...67,657,569
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CCDC39 |
coiled-coil domain 39 molecular ruler complex subunit |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 3:180,614,008...180,679,489
Ensembl chr 3:180,602,858...180,684,942
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CCDC40 |
coiled-coil domain 40 molecular ruler complex subunit |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr17:80,036,642...80,100,613
Ensembl chr17:80,036,632...80,100,613
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CCDC65 |
coiled-coil domain containing 65 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr12:48,904,133...48,921,576
Ensembl chr12:48,904,110...48,931,840
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CCNO |
cyclin O |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 5:55,231,152...55,233,608
Ensembl chr 5:55,231,152...55,233,608
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CD19 |
CD19 molecule |
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IAGP |
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HPO |
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ORPHA:1572 |
NCBI chr16:28,931,971...28,939,342
Ensembl chr16:28,931,965...28,939,342
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CD79A |
CD79a molecule |
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IAGP |
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HPO |
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ORPHA:33110 |
NCBI chr19:41,877,279...41,881,372
Ensembl chr19:41,877,279...41,881,372
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CD79B |
CD79b molecule |
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IAGP |
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HPO |
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ORPHA:33110 |
NCBI chr17:63,928,740...63,932,331
Ensembl chr17:63,928,738...63,932,336
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CD81 |
CD81 molecule |
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IAGP |
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HPO |
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ORPHA:1572 |
NCBI chr11:2,376,180...2,397,397
Ensembl chr11:2,376,177...2,397,802
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CFAP221 |
cilia and flagella associated protein 221 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 2:119,544,449...119,660,323
Ensembl chr 2:119,544,432...119,662,251
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CFAP298 |
cilia and flagella associated protein 298 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr21:32,599,354...32,612,377
Ensembl chr21:32,592,079...32,612,603
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CFAP300 |
cilia and flagella associated protein 300 |
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IAGP |
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HPO |
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MIM:618063 ORPHA:244 |
NCBI chr11:102,047,437...102,084,554
Ensembl chr11:102,047,437...102,084,554
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CFAP45 |
cilia and flagella associated protein 45 |
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IAGP |
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HPO |
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MIM:619608 |
NCBI chr 1:159,872,364...159,900,165
Ensembl chr 1:159,872,364...159,900,165
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CFAP74 |
cilia and flagella associated protein 74 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 1:1,921,957...2,003,786
Ensembl chr 1:1,921,951...2,003,837
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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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COMT |
catechol-O-methyltransferase |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
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CPLX1 |
complexin 1 |
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IAGP |
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HPO |
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ORPHA:280 |
NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129
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CR2 |
complement C3d receptor 2 |
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IAGP |
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HPO |
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ORPHA:1572 |
NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,453,024...207,489,895
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CTBP1 |
C-terminal binding protein 1 |
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IAGP |
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HPO |
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ORPHA:280 |
NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333
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CTLA4 |
cytotoxic T-lymphocyte associated protein 4 |
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IAGP |
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HPO |
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ORPHA:900 |
NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
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CYP4F22 |
cytochrome P450 family 4 subfamily F member 22 |
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IAGP |
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HPO |
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ORPHA:313 |
NCBI chr19:15,508,525...15,552,317
Ensembl chr19:15,508,525...15,552,317
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DNAAF1 |
dynein axonemal assembly factor 1 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr16:84,145,308...84,177,920
Ensembl chr16:84,145,287...84,178,767
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DNAAF11 |
dynein axonemal assembly factor 11 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 8:132,570,416...132,702,913
Ensembl chr 8:132,570,416...132,675,592
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DNAAF19 |
dynein axonemal assembly factor 19 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr17:44,899,729...44,905,390
Ensembl chr17:44,899,142...44,905,390
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DNAAF2 |
dynein axonemal assembly factor 2 |
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IAGP |
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HPO |
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MIM:612518 ORPHA:244 |
NCBI chr14:49,625,174...49,635,244
Ensembl chr14:49,625,174...49,635,244
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DNAAF3 |
dynein axonemal assembly factor 3 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr19:55,158,661...55,166,722
Ensembl chr19:55,158,661...55,166,722
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DNAAF4 |
dynein axonemal assembly factor 4 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr15:55,417,755...55,508,234
Ensembl chr15:55,410,525...55,508,234
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DNAAF5 |
dynein axonemal assembly factor 5 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 7:726,699...786,475
Ensembl chr 7:726,699...786,475
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DNAAF6 |
dynein axonemal assembly factor 6 |
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IAGP |
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HPO |
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MIM:300991 ORPHA:244 |
NCBI chr X:107,206,611...107,244,247
Ensembl chr X:107,206,611...107,244,247
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DNAH1 |
dynein axonemal heavy chain 1 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 3:52,310,920...52,400,492
Ensembl chr 3:52,316,319...52,400,492
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DNAH11 |
dynein axonemal heavy chain 11 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 7:21,543,039...21,901,839
Ensembl chr 7:21,543,039...21,901,839
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DNAH5 |
dynein axonemal heavy chain 5 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 5:13,690,328...14,011,818
Ensembl chr 5:13,690,328...14,011,818
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DNAH9 |
dynein axonemal heavy chain 9 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr17:11,598,470...11,969,748
Ensembl chr17:11,598,470...11,969,748
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DNAI1 |
dynein axonemal intermediate chain 1 |
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IAGP |
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HPO |
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MIM:244400 ORPHA:244 |
NCBI chr 9:34,458,805...34,520,984
Ensembl chr 9:34,457,414...34,520,988
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DNAI2 |
dynein axonemal intermediate chain 2 |
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IAGP |
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HPO |
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MIM:612444 ORPHA:244 |
NCBI chr17:74,274,234...74,314,884
Ensembl chr17:74,274,234...74,314,884
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DNAJB13 |
DnaJ heat shock protein family (Hsp40) member B13 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr11:73,951,026...73,970,281
Ensembl chr11:73,951,026...73,970,366
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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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DNAL1 |
dynein axonemal light chain 1 |
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IAGP |
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HPO |
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MIM:614017 ORPHA:244 |
NCBI chr14:73,644,986...73,703,732
Ensembl chr14:73,644,875...73,703,732
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DOCK8 |
dedicator of cytokinesis 8 |
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IAGP |
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HPO |
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ORPHA:217390 |
NCBI chr 9:211,257...465,255
Ensembl chr 9:214,854...465,259
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DRC1 |
dynein regulatory complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 2:26,401,920...26,456,711
Ensembl chr 2:26,401,920...26,456,711
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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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FGFR2 |
fibroblast growth factor receptor 2 |
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IAGP |
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HPO |
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MIM:101200 |
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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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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FMR1 |
fragile X messenger ribonucleoprotein 1 |
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IAGP |
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HPO |
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ORPHA:908 |
NCBI chr X:147,911,919...147,951,125
Ensembl chr X:147,911,919...147,951,125
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FOXJ1 |
forkhead box J1 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr17:76,136,333...76,141,245
Ensembl chr17:76,136,333...76,141,245
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GAS2L2 |
growth arrest specific 2 like 2 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr17:35,744,511...35,753,239
Ensembl chr17:35,744,511...35,753,239
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GAS8 |
growth arrest specific 8 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr16:90,019,633...90,044,960
Ensembl chr16:90,019,629...90,044,975
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GATA2 |
GATA binding protein 2 |
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IAGP |
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HPO |
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ORPHA:228423 |
NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201
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GNB2 |
G protein subunit beta 2 |
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IAGP |
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HPO |
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MIM:619503 |
NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174
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GP1BB |
glycoprotein Ib platelet subunit beta |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
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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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G |
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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G |
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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G |
HIRA |
histone cell cycle regulator |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450
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G |
HLA-DPA1 |
major histocompatibility complex, class II, DP alpha 1 |
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IAGP |
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HPO |
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ORPHA:900 |
NCBI chr 6:33,064,569...33,080,748
Ensembl chr 6:33,064,569...33,080,775
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G |
HLA-DPB1 |
major histocompatibility complex, class II, DP beta 1 |
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IAGP |
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HPO |
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ORPHA:900 |
NCBI chr 6:33,075,990...33,089,696
Ensembl chr 6:33,075,936...33,089,696
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HYDIN |
HYDIN axonemal central pair apparatus protein |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr16:70,802,084...71,230,722
Ensembl chr16:70,802,084...71,230,722
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ICOS |
inducible T cell costimulator |
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IAGP |
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HPO |
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ORPHA:1572 |
NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577
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G |
IGHM |
immunoglobulin heavy constant mu |
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IAGP |
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HPO |
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ORPHA:33110 |
NCBI chr14:105,851,966...105,856,217
Ensembl chr14:105,851,705...105,856,218
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G |
IGLL1 |
immunoglobulin lambda like polypeptide 1 |
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IAGP |
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HPO |
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ORPHA:33110 |
NCBI chr22:23,573,125...23,580,290
Ensembl chr22:23,573,125...23,580,302
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G |
IL11RA |
interleukin 11 receptor subunit alpha |
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IAGP |
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HPO |
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MIM:614188 |
NCBI chr 9:34,652,185...34,661,902
Ensembl chr 9:34,652,162...34,661,902
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G |
IRF2BP2 |
interferon regulatory factor 2 binding protein 2 |
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IAGP |
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HPO |
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ORPHA:1572 |
NCBI chr 1:234,604,269...234,610,178
Ensembl chr 1:234,602,300...234,610,178
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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 |
JMJD1C |
jumonji domain containing 1C |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850
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G |
KAT6A |
lysine acetyltransferase 6A |
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IAGP |
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HPO |
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MIM:616268 |
NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994
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G |
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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G |
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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LETM1 |
leucine zipper and EF-hand containing transmembrane protein 1 |
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IAGP |
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HPO |
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ORPHA:280 |
NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
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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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LIPN |
lipase family member N |
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IAGP |
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HPO |
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ORPHA:313 |
NCBI chr10:88,757,226...88,779,626
Ensembl chr10:88,759,982...88,779,626
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LRRC56 |
leucine rich repeat containing 56 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912
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LRRC8A |
leucine rich repeat containing 8 VRAC subunit A |
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IAGP |
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HPO |
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ORPHA:33110 |
NCBI chr 9:128,882,133...128,918,039
Ensembl chr 9:128,882,133...128,918,039
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MCIDAS |
multiciliate differentiation and DNA synthesis associated cell cycle protein |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 5:55,219,564...55,227,315
Ensembl chr 5:55,219,564...55,227,315
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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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MS4A1 |
membrane spanning 4-domains A1 |
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IAGP |
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HPO |
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ORPHA:1572 |
NCBI chr11:60,455,847...60,470,752
Ensembl chr11:60,455,846...60,470,752
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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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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:199302 |
NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
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NEK10 |
NIMA related kinase 10 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 3:27,106,484...27,369,383
Ensembl chr 3:27,106,484...27,369,460
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NELFA |
negative elongation factor complex member A |
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IAGP |
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HPO |
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ORPHA:280 |
NCBI chr 4:1,982,723...2,008,974
Ensembl chr 4:1,982,717...2,041,903
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NFKB1 |
nuclear factor kappa B subunit 1 |
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IAGP |
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HPO |
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ORPHA:1572 |
NCBI chr 4:102,501,359...102,617,302
Ensembl chr 4:102,501,330...102,617,302
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NFKB2 |
nuclear factor kappa B subunit 2 |
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IAGP |
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HPO |
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ORPHA:1572 |
NCBI chr10:102,394,110...102,402,529
Ensembl chr10:102,394,110...102,402,524
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NIPAL4 |
NIPA like domain containing 4 |
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IAGP |
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HPO |
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ORPHA:313 |
NCBI chr 5:157,460,213...157,474,722
Ensembl chr 5:157,460,213...157,474,722
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NME5 |
NME/NM23 family member 5 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 5:138,115,175...138,139,428
Ensembl chr 5:138,115,175...138,139,443
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NME8 |
NME/NM23 family member 8 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 7:37,848,597...37,900,397
Ensembl chr 7:37,848,597...37,900,397
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NSD1 |
nuclear receptor binding SET domain protein 1 |
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IAGP |
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HPO |
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ORPHA:821 |
NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
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NSD2 |
nuclear receptor binding SET domain protein 2 |
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IAGP |
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HPO |
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ORPHA:280 |
NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207
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NXN |
nucleoredoxin |
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IAGP |
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HPO |
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ORPHA:1507 |
NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776
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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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ODAD1 |
outer dynein arm docking complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr19:48,296,452...48,321,971
Ensembl chr19:48,296,457...48,321,971
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ODAD2 |
outer dynein arm docking complex subunit 2 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr10:27,812,168...27,999,675
Ensembl chr10:27,775,186...27,999,079
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ODAD3 |
outer dynein arm docking complex subunit 3 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr19:11,420,605...11,435,782
Ensembl chr19:11,420,604...11,435,782
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ODAD4 |
outer dynein arm docking complex subunit 4 |
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IAGP |
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HPO |
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MIM:617092 ORPHA:244 |
NCBI chr17:41,930,617...41,966,503
Ensembl chr17:41,930,617...41,966,503
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OFD1 |
OFD1 centriole and centriolar satellite protein |
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IAGP |
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HPO |
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ORPHA:244 ORPHA:2750 |
NCBI chr X:13,714,505...13,773,738
Ensembl chr X:13,734,743...13,777,955
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PGM3 |
phosphoglucomutase 3 |
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IAGP |
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HPO |
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ORPHA:443811 |
NCBI chr 6:83,148,705...83,193,900
Ensembl chr 6:83,147,324...83,193,936
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PIGG |
phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) |
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IAGP |
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HPO |
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ORPHA:280 |
NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200
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PIGH |
phosphatidylinositol glycan anchor biosynthesis class H |
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IAGP |
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HPO |
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MIM:618010 |
NCBI chr14:67,589,306...67,600,301
Ensembl chr14:67,581,955...67,600,286
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G |
PIK3R1 |
phosphoinositide-3-kinase regulatory subunit 1 |
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IAGP |
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HPO |
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ORPHA:33110 |
NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821
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G |
PRKCD |
protein kinase C delta |
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IAGP |
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HPO |
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ORPHA:1572 |
NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717
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PRTN3 |
proteinase 3 |
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IAGP |
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HPO |
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ORPHA:900 |
NCBI chr19:840,999...848,175
Ensembl chr19:840,999...848,175
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PTPN22 |
protein tyrosine phosphatase non-receptor type 22 |
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IAGP |
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HPO |
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ORPHA:900 |
NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753
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RAI1 |
retinoic acid induced 1 |
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IAGP |
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HPO |
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MIM:182290 |
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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G |
ROR2 |
receptor tyrosine kinase like orphan receptor 2 |
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IAGP |
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HPO |
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ORPHA:1507 |
NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228
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RPGR |
retinitis pigmentosa GTPase regulator |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr X:38,269,163...38,327,509
Ensembl chr X:38,269,163...38,327,544
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G |
RREB1 |
ras responsive element binding protein 1 |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980
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G |
RSPH1 |
radial spoke head component 1 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr21:42,472,486...42,496,224
Ensembl chr21:42,472,486...42,496,246
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G |
RSPH3 |
radial spoke head 3 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 6:158,962,980...159,000,202
Ensembl chr 6:158,970,084...159,000,202
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RSPH4A |
radial spoke head component 4A |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 6:116,616,479...116,632,985
Ensembl chr 6:116,616,479...116,632,985
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G |
RSPH9 |
radial spoke head component 9 |
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IAGP |
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HPO |
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MIM:612650 ORPHA:244 |
NCBI chr 6:43,645,036...43,672,600
Ensembl chr 6:43,645,036...43,672,600
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G |
RUNX2 |
RUNX family transcription factor 2 |
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IAGP |
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HPO |
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ORPHA:1452 |
NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349
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G |
SDR9C7 |
short chain dehydrogenase/reductase family 9C member 7 |
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IAGP |
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HPO |
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ORPHA:313 |
NCBI chr12:56,923,133...56,934,408
Ensembl chr12:56,923,133...56,934,408
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G |
SEC24C |
SEC24 homolog C, COPII coat complex component |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161
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G |
SLC25A12 |
solute carrier family 25 member 12 |
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IAGP |
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HPO |
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MIM:612949 |
NCBI chr 2:171,783,405...171,894,244
Ensembl chr 2:171,783,405...171,999,859
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SLC39A7 |
solute carrier family 39 member 7 |
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IAGP |
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HPO |
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ORPHA:33110 |
NCBI chr 6:33,200,867...33,204,437
Ensembl chr 6:33,200,305...33,204,439
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G |
SPAG1 |
sperm associated antigen 1 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 8:100,158,038...100,241,904
Ensembl chr 8:100,157,906...100,259,278
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G |
SPEF2 |
sperm flagellar 2 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 5:35,617,863...35,814,611
Ensembl chr 5:35,617,844...35,814,611
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G |
SPI1 |
Spi-1 proto-oncogene |
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IAGP |
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HPO |
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ORPHA:33110 |
NCBI chr11:47,354,860...47,378,547
Ensembl chr11:47,354,860...47,409,369
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STAT3 |
signal transducer and activator of transcription 3 |
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IAGP |
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HPO |
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ORPHA:2314 |
NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
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G |
STK36 |
serine/threonine kinase 36 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 2:218,672,086...218,702,717
Ensembl chr 2:218,672,069...218,702,716
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G |
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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SULT2B1 |
sulfotransferase family 2B member 1 |
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IAGP |
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HPO |
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ORPHA:313 |
NCBI chr19:48,552,172...48,599,427
Ensembl chr19:48,552,172...48,599,425
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G |
TAF1 |
TATA-box binding protein associated factor 1 |
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IAGP |
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HPO |
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MIM:300966 ORPHA:480907 |
NCBI chr X:71,366,357...71,530,525
Ensembl chr X:71,366,136...71,532,374
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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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G |
TBX1 |
T-box transcription factor 1 |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
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G |
TBX4 |
T-box transcription factor 4 |
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IAGP |
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HPO |
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ORPHA:261279 |
NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110
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TCF3 |
transcription factor 3 |
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IAGP |
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HPO |
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ORPHA:33110 |
NCBI chr19:1,609,292...1,652,615
Ensembl chr19:1,609,291...1,652,615
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G |
TGDS |
TDP-glucose 4,6-dehydratase |
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IAGP |
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HPO |
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ORPHA:1388 |
NCBI chr13:94,574,054...94,596,273
Ensembl chr13:94,574,054...94,596,242
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G |
TGM1 |
transglutaminase 1 |
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IAGP |
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HPO |
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ORPHA:313 |
NCBI chr14:24,249,114...24,263,177
Ensembl chr14:24,249,114...24,264,432
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G |
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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TNFRSF13B |
TNF receptor superfamily member 13B |
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IAGP |
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HPO |
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ORPHA:1572 |
NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118
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G |
TNFRSF13C |
TNF receptor superfamily member 13C |
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IAGP |
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HPO |
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ORPHA:1572 |
NCBI chr22:41,922,032...41,926,806
Ensembl chr22:41,922,032...41,926,806
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TNFSF12 |
TNF superfamily member 12 |
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IAGP |
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HPO |
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ORPHA:1572 |
NCBI chr17:7,549,058...7,557,881
Ensembl chr17:7,548,508...7,557,890
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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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TP73 |
tumor protein p73 |
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IAGP |
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HPO |
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MIM:619466 |
NCBI chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201
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G |
TTC12 |
tetratricopeptide repeat domain 12 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr11:113,314,583...113,373,297
Ensembl chr11:113,314,579...113,383,544
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UFD1 |
ubiquitin recognition factor in ER associated degradation 1 |
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IAGP |
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HPO |
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ORPHA:567 |
NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202
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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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WAS |
WASP actin nucleation promoting factor |
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IAGP |
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HPO |
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ORPHA:906 |
NCBI chr X:48,676,636...48,691,427
Ensembl chr X:48,676,596...48,691,431
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G |
WIPF1 |
WAS/WASL interacting protein family member 1 |
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IAGP |
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HPO |
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ORPHA:906 |
NCBI chr 2:174,559,574...174,682,913
Ensembl chr 2:174,559,572...174,682,916
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G |
ZMYND10 |
zinc finger MYND-type containing 10 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 3:50,341,112...50,345,732
Ensembl chr 3:50,341,110...50,345,732
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G |
H4C3 |
H4 clustered histone 3 |
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IAGP |
|
HPO |
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MIM:619758 |
NCBI chr 6:26,103,933...26,104,337
Ensembl chr 6:26,103,933...26,104,337
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G |
SIN3A |
SIN3 transcription regulator family member A |
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IAGP |
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HPO |
|
MIM:613406 |
NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842
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G |
SLF2 |
SMC5-SMC6 complex localization factor 2 |
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IAGP |
|
HPO |
|
MIM:620184 |
NCBI chr10:100,912,963...100,965,134
Ensembl chr10:100,912,963...100,965,134
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G |
FGF3 |
fibroblast growth factor 3 |
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IAGP |
|
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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G |
A2ML1 |
alpha-2-macroglobulin like 1 |
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IAGP |
ClinVar Annotator: match by term: Otitis media, susceptibility to |
ClinVar HPO |
PMID:16199547 PMID:24824130 PMID:24896146 PMID:24939586 PMID:25741868 PMID:25862627 PMID:26121085 PMID:27484237 PMID:27618447 PMID:28492532 PMID:31009165 PMID:34426522 PMID:35904599 More...
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MIM:166760 |
NCBI chr12:8,822,621...8,887,459
Ensembl chr12:8,822,621...8,887,001
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G |
A2ML1-AS1 |
A2ML1 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Otitis media, susceptibility to |
ClinVar |
PMID:25741868 PMID:28492532 PMID:31009165 |
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NCBI chr12:8,776,211...8,831,306
Ensembl chr12:8,776,219...8,830,947
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ACP5 |
acid phosphatase 5, tartrate resistant |
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IAGP |
|
HPO |
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MIM:607944 |
NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993
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G |
ACTL6A |
actin like 6A |
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IAGP |
ClinVar Annotator: match by term: Recurrent otitis media |
ClinVar |
PMID:19215055 PMID:25741868 PMID:28649782 PMID:31994175 |
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NCBI chr 3:179,562,926...179,588,407
Ensembl chr 3:179,562,886...179,588,407
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ADA |
adenosine deaminase |
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IAGP |
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HPO |
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ORPHA:277 |
NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252
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G |
ADA2 |
adenosine deaminase 2 |
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IAGP |
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HPO |
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MIM:615688 |
NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235
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G |
ADAT3 |
adenosine deaminase tRNA specific 3 |
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IAGP |
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HPO |
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MIM:615286 ORPHA:363528 |
NCBI chr19:1,905,399...1,913,447
Ensembl chr19:1,905,399...1,913,447
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G |
AGR2 |
anterior gradient 2, protein disulphide isomerase family member |
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IAGP |
|
HPO |
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MIM:620233 |
NCBI chr 7:16,791,811...16,804,999
Ensembl chr 7:16,791,811...16,833,433
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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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MIM:618625 |
NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690
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AP3B1 |
adaptor related protein complex 3 subunit beta 1 |
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IAGP |
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HPO |
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MIM:608233 |
NCBI chr 5:78,000,522...78,294,698
Ensembl chr 5:77,991,640...78,294,762
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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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ATN1 |
atrophin 1 |
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IAGP |
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HPO |
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MIM:618494 |
NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321
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BAP1 |
BRCA1 associated deubiquitinase 1 |
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IAGP |
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HPO |
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MIM:619762 |
NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
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BCOR |
BCL6 corepressor |
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IAGP |
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HPO |
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MIM:309800 |
NCBI chr X:40,051,246...40,177,329
Ensembl chr X:40,049,815...40,177,329
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BLNK |
B cell linker |
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IAGP |
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HPO |
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MIM:613502 |
NCBI chr10:96,189,171...96,271,569
Ensembl chr10:96,189,171...96,271,587
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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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BPTF |
bromodomain PHD finger transcription factor |
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IAGP |
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HPO |
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ORPHA:529962 |
NCBI chr17:67,825,503...67,984,378
Ensembl chr17:67,825,503...67,984,378
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BRWD1 |
bromodomain and WD repeat domain containing 1 |
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IAGP |
ClinVar Annotator: match by term: Recurrent otitis media |
ClinVar |
PMID:33389130 |
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NCBI chr21:39,184,176...39,321,212
Ensembl chr21:39,184,176...39,321,559
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BTK |
Bruton tyrosine kinase |
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IAGP |
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HPO |
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MIM:300755 MIM:307200 |
NCBI chr X:101,349,450...101,390,796
Ensembl chr X:101,349,338...101,390,796
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C1QB |
complement C1q B chain |
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IAGP |
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HPO |
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MIM:620321 |
NCBI chr 1:22,653,236...22,661,637
Ensembl chr 1:22,652,762...22,661,637
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C4B |
complement C4B (Chido/Rodgers blood group) |
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IAGP |
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HPO |
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MIM:614379 |
NCBI chr 6:32,014,795...32,035,418
Ensembl chr 6:32,014,795...32,035,418
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CBLB |
Cbl proto-oncogene B |
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IAGP |
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HPO |
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MIM:620430 |
NCBI chr 3:105,655,461...105,869,449
Ensembl chr 3:105,655,461...105,869,552
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CCDC39 |
coiled-coil domain 39 molecular ruler complex subunit |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 3:180,614,008...180,679,489
Ensembl chr 3:180,602,858...180,684,942
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CCDC40 |
coiled-coil domain 40 molecular ruler complex subunit |
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IAGP |
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HPO |
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MIM:613808 ORPHA:244 |
NCBI chr17:80,036,642...80,100,613
Ensembl chr17:80,036,632...80,100,613
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CCDC47 |
coiled-coil domain containing 47 |
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IAGP |
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HPO |
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MIM:618268 |
NCBI chr17:63,745,255...63,773,597
Ensembl chr17:63,745,255...63,776,351
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CCDC65 |
coiled-coil domain containing 65 |
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IAGP |
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HPO |
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MIM:615504 ORPHA:244 |
NCBI chr12:48,904,133...48,921,576
Ensembl chr12:48,904,110...48,931,840
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CCNO |
cyclin O |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 5:55,231,152...55,233,608
Ensembl chr 5:55,231,152...55,233,608
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CD19 |
CD19 molecule |
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IAGP |
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HPO |
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MIM:240500 MIM:613493 |
NCBI chr16:28,931,971...28,939,342
Ensembl chr16:28,931,965...28,939,342
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CD3D |
CD3 delta subunit of T-cell receptor complex |
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IAGP |
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HPO |
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MIM:615617 |
NCBI chr11:118,338,954...118,342,705
Ensembl chr11:118,334,537...118,342,705
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CD3E |
CD3 epsilon subunit of T-cell receptor complex |
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IAGP |
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HPO |
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MIM:615615 |
NCBI chr11:118,304,730...118,316,173
Ensembl chr11:118,304,730...118,316,175
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CD3G |
CD3 gamma subunit of T-cell receptor complex |
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IAGP |
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HPO |
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MIM:615607 |
NCBI chr11:118,344,344...118,355,161
Ensembl chr11:118,344,344...118,355,161
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CD4 |
CD4 molecule |
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IAGP |
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HPO |
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MIM:619238 |
NCBI chr12:6,789,528...6,820,799
Ensembl chr12:6,786,858...6,820,799
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CD79A |
CD79a molecule |
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IAGP |
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HPO |
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MIM:613501 |
NCBI chr19:41,877,279...41,881,372
Ensembl chr19:41,877,279...41,881,372
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CD79B |
CD79b molecule |
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IAGP |
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HPO |
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MIM:612692 |
NCBI chr17:63,928,740...63,932,331
Ensembl chr17:63,928,738...63,932,336
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CDC42BPB |
CDC42 binding protein kinase beta |
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IAGP |
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HPO |
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MIM:619841 |
NCBI chr14:102,932,380...103,057,549
Ensembl chr14:102,932,380...103,057,549
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CDCA7 |
cell division cycle associated 7 |
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IAGP |
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HPO |
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MIM:616910 |
NCBI chr 2:173,354,872...173,368,997
Ensembl chr 2:173,354,820...173,368,997
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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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CEBPE |
CCAAT enhancer binding protein epsilon |
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IAGP |
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HPO |
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MIM:245480 |
NCBI chr14:23,117,306...23,119,255
Ensembl chr14:23,117,036...23,120,256
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CFAP221 |
cilia and flagella associated protein 221 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 2:119,544,449...119,660,323
Ensembl chr 2:119,544,432...119,662,251
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CFAP298 |
cilia and flagella associated protein 298 |
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IAGP |
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HPO |
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MIM:615500 ORPHA:244 |
NCBI chr21:32,599,354...32,612,377
Ensembl chr21:32,592,079...32,612,603
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CFAP300 |
cilia and flagella associated protein 300 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr11:102,047,437...102,084,554
Ensembl chr11:102,047,437...102,084,554
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CFAP52 |
cilia and flagella associated protein 52 |
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IAGP |
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HPO |
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MIM:619607 |
NCBI chr17:9,576,642...9,645,554
Ensembl chr17:9,576,627...9,643,447
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CFAP74 |
cilia and flagella associated protein 74 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 1:1,921,957...2,003,786
Ensembl chr 1:1,921,951...2,003,837
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CFI |
complement factor I |
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IAGP |
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HPO |
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MIM:610984 |
NCBI chr 4:109,730,982...109,801,999
Ensembl chr 4:109,731,008...109,802,150
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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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COL11A1 |
collagen type XI alpha 1 chain |
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IAGP |
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HPO |
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MIM:154780 |
NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872
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COL2A1 |
collagen type II alpha 1 chain |
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IAGP |
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HPO |
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MIM:156550 |
NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
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CORO1A |
coronin 1A |
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IAGP |
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HPO |
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MIM:615401 |
NCBI chr16:30,183,602...30,189,076
Ensembl chr16:30,182,827...30,189,076
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CR2 |
complement C3d receptor 2 |
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IAGP |
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HPO |
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MIM:240500 |
NCBI chr 1:207,454,328...207,489,892
Ensembl chr 1:207,453,024...207,489,895
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DAW1 |
dynein assembly factor with WD repeats 1 |
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IAGP |
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HPO |
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MIM:620570 |
NCBI chr 2:227,871,631...227,924,344
Ensembl chr 2:227,871,054...227,924,344
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DDB1 |
damage specific DNA binding protein 1 |
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IAGP |
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HPO |
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MIM:619426 |
NCBI chr11:61,299,451...61,333,105
Ensembl chr11:61,299,451...61,342,596
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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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DHCR7 |
7-dehydrocholesterol reductase |
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IAGP |
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HPO |
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MIM:270400 |
NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868
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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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G |
DLK1 |
delta like non-canonical Notch ligand 1 |
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IAGP |
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HPO |
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ORPHA:254531 ORPHA:96184 |
NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224
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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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DNAAF1 |
dynein axonemal assembly factor 1 |
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IAGP |
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HPO |
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MIM:613193 ORPHA:244 |
NCBI chr16:84,145,308...84,177,920
Ensembl chr16:84,145,287...84,178,767
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G |
DNAAF11 |
dynein axonemal assembly factor 11 |
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IAGP |
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HPO |
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MIM:614935 ORPHA:244 |
NCBI chr 8:132,570,416...132,702,913
Ensembl chr 8:132,570,416...132,675,592
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DNAAF19 |
dynein axonemal assembly factor 19 |
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IAGP |
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HPO |
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MIM:614679 ORPHA:244 |
NCBI chr17:44,899,729...44,905,390
Ensembl chr17:44,899,142...44,905,390
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DNAAF2 |
dynein axonemal assembly factor 2 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr14:49,625,174...49,635,244
Ensembl chr14:49,625,174...49,635,244
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G |
DNAAF3 |
dynein axonemal assembly factor 3 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr19:55,158,661...55,166,722
Ensembl chr19:55,158,661...55,166,722
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G |
DNAAF4 |
dynein axonemal assembly factor 4 |
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IAGP |
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HPO |
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MIM:615482 ORPHA:244 |
NCBI chr15:55,417,755...55,508,234
Ensembl chr15:55,410,525...55,508,234
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G |
DNAAF5 |
dynein axonemal assembly factor 5 |
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IAGP |
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HPO |
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MIM:614874 ORPHA:244 |
NCBI chr 7:726,699...786,475
Ensembl chr 7:726,699...786,475
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DNAAF6 |
dynein axonemal assembly factor 6 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr X:107,206,611...107,244,247
Ensembl chr X:107,206,611...107,244,247
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DNAH1 |
dynein axonemal heavy chain 1 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 3:52,310,920...52,400,492
Ensembl chr 3:52,316,319...52,400,492
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DNAH11 |
dynein axonemal heavy chain 11 |
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IAGP |
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HPO |
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MIM:611884 ORPHA:244 |
NCBI chr 7:21,543,039...21,901,839
Ensembl chr 7:21,543,039...21,901,839
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DNAH5 |
dynein axonemal heavy chain 5 |
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IAGP |
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HPO |
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MIM:608644 ORPHA:244 |
NCBI chr 5:13,690,328...14,011,818
Ensembl chr 5:13,690,328...14,011,818
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DNAH9 |
dynein axonemal heavy chain 9 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr17:11,598,470...11,969,748
Ensembl chr17:11,598,470...11,969,748
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DNAI1 |
dynein axonemal intermediate chain 1 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 9:34,458,805...34,520,984
Ensembl chr 9:34,457,414...34,520,988
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DNAI2 |
dynein axonemal intermediate chain 2 |
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IAGP |
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HPO |
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MIM:612444 ORPHA:244 |
NCBI chr17:74,274,234...74,314,884
Ensembl chr17:74,274,234...74,314,884
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DNAJB13 |
DnaJ heat shock protein family (Hsp40) member B13 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr11:73,951,026...73,970,281
Ensembl chr11:73,951,026...73,970,366
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DNAL1 |
dynein axonemal light chain 1 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr14:73,644,986...73,703,732
Ensembl chr14:73,644,875...73,703,732
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DOCK11 |
dedicator of cytokinesis 11 |
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IAGP |
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HPO |
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MIM:301109 |
NCBI chr X:118,495,815...118,686,147
Ensembl chr X:118,495,815...118,686,163
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DOCK2 |
dedicator of cytokinesis 2 |
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IAGP |
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HPO |
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MIM:616433 |
NCBI chr 5:169,637,275...170,083,382
Ensembl chr 5:169,637,268...170,083,382
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DOCK8 |
dedicator of cytokinesis 8 |
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IAGP |
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HPO |
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MIM:243700 |
NCBI chr 9:211,257...465,255
Ensembl chr 9:214,854...465,259
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DPF2 |
double PHD fingers 2 |
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IAGP |
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HPO |
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MIM:618027 |
NCBI chr11:65,333,852...65,354,262
Ensembl chr11:65,333,843...65,354,262
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DPP9 |
dipeptidyl peptidase 9 |
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IAGP |
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HPO |
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MIM:620331 |
NCBI chr19:4,675,227...4,723,842
Ensembl chr19:4,674,341...4,724,673
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G |
DRC1 |
dynein regulatory complex subunit 1 |
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IAGP |
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HPO |
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MIM:615294 ORPHA:244 |
NCBI chr 2:26,401,920...26,456,711
Ensembl chr 2:26,401,920...26,456,711
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G |
DYRK1A |
dual specificity tyrosine phosphorylation regulated kinase 1A |
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IAGP |
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HPO |
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MIM:614104 |
NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358
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G |
ELN |
elastin |
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IAGP |
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HPO |
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MIM:194050 |
NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
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G |
EYA4 |
EYA transcriptional coactivator and phosphatase 4 |
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IAGP |
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HPO |
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ORPHA:217622 |
NCBI chr 6:133,240,593...133,532,128
Ensembl chr 6:133,240,514...133,532,128
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G |
FBXO11 |
F-box protein 11 |
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IAGP |
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HPO |
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MIM:618089 |
NCBI chr 2:47,806,920...47,906,498
Ensembl chr 2:47,789,316...47,906,498
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G |
FCGR3A |
Fc gamma receptor IIIa |
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IAGP |
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HPO |
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MIM:615707 |
NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,968
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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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MIM:100800 MIM:602849 MIM:616482 |
NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
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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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FLNA |
filamin A |
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IAGP |
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HPO |
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MIM:309350 |
NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
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G |
FMR1 |
fragile X messenger ribonucleoprotein 1 |
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IAGP |
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HPO |
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ORPHA:449291 |
NCBI chr X:147,911,919...147,951,125
Ensembl chr X:147,911,919...147,951,125
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G |
FOCAD |
focadhesin |
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IAGP |
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HPO |
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MIM:619991 |
NCBI chr 9:20,655,625...20,995,950
Ensembl chr 9:20,658,309...20,995,955
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G |
FOXJ1 |
forkhead box J1 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr17:76,136,333...76,141,245
Ensembl chr17:76,136,333...76,141,245
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G |
FOXP1 |
forkhead box P1 |
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IAGP |
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HPO |
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ORPHA:391372 |
NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978
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G |
FZD2 |
frizzled class receptor 2 |
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IAGP |
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HPO |
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MIM:164745 |
NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262
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G |
GAS2L2 |
growth arrest specific 2 like 2 |
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IAGP |
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HPO |
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MIM:618449 ORPHA:244 |
NCBI chr17:35,744,511...35,753,239
Ensembl chr17:35,744,511...35,753,239
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G |
GAS8 |
growth arrest specific 8 |
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IAGP |
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HPO |
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MIM:616726 ORPHA:244 |
NCBI chr16:90,019,633...90,044,960
Ensembl chr16:90,019,629...90,044,975
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G |
GLRA2 |
glycine receptor alpha 2 |
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IAGP |
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HPO |
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MIM:301076 |
NCBI chr X:14,448,779...14,731,812
Ensembl chr X:14,529,298...14,731,812
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G |
GNB2 |
G protein subunit beta 2 |
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IAGP |
|
HPO |
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MIM:619503 |
NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174
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G |
GNPTAB |
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta |
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IAGP |
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HPO |
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MIM:252500 ORPHA:423461 |
NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959
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GNS |
glucosamine (N-acetyl)-6-sulfatase |
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IAGP |
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HPO |
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MIM:252940 |
NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,445...64,759,431
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GRHL3 |
grainyhead like transcription factor 3 |
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IAGP |
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HPO |
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ORPHA:99772 |
NCBI chr 1:24,319,357...24,364,482
Ensembl chr 1:24,199,558...24,364,482
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GUSB |
glucuronidase beta |
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IAGP |
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HPO |
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MIM:253220 |
NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,684...65,982,215
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H4C3 |
H4 clustered histone 3 |
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IAGP |
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HPO |
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MIM:619758 |
NCBI chr 6:26,103,933...26,104,337
Ensembl chr 6:26,103,933...26,104,337
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H4C5 |
H4 clustered histone 5 |
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IAGP |
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HPO |
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MIM:619950 |
NCBI chr 6:26,204,610...26,205,021
Ensembl chr 6:26,204,610...26,205,021
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HEPHL1 |
hephaestin like 1 |
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IAGP |
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HPO |
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MIM:261990 |
NCBI chr11:94,021,354...94,114,208
Ensembl chr11:94,021,354...94,114,208
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HYAL1 |
hyaluronidase 1 |
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IAGP |
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HPO |
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MIM:601492 |
NCBI chr 3:50,299,893...50,312,381
Ensembl chr 3:50,299,890...50,312,381
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HYDIN |
HYDIN axonemal central pair apparatus protein |
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IAGP |
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HPO |
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MIM:608647 ORPHA:244 |
NCBI chr16:70,802,084...71,230,722
Ensembl chr16:70,802,084...71,230,722
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ICOS |
inducible T cell costimulator |
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IAGP |
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HPO |
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MIM:240500 MIM:607594 |
NCBI chr 2:203,936,763...203,961,577
Ensembl chr 2:203,936,763...203,961,577
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G |
IDS |
iduronate 2-sulfatase |
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IAGP |
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HPO |
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MIM:309900 |
NCBI chr X:149,476,988...149,505,306
Ensembl chr X:149,476,988...149,521,096
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G |
IDUA |
alpha-L-iduronidase |
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IAGP |
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HPO |
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MIM:607014 |
NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564
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IGHG2 |
immunoglobulin heavy constant gamma 2 (G2m marker) |
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IAGP |
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HPO |
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ORPHA:183675 |
NCBI chr14:105,643,203...105,644,789
Ensembl chr14:105,639,559...105,644,790
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IGHM |
immunoglobulin heavy constant mu |
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IAGP |
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HPO |
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MIM:601495 |
NCBI chr14:105,851,966...105,856,217
Ensembl chr14:105,851,705...105,856,218
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IGKC |
immunoglobulin kappa constant |
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IAGP |
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HPO |
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ORPHA:183675 |
NCBI chr 2:88,857,361...88,857,683
Ensembl chr 2:88,857,161...88,857,683
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IGLL1 |
immunoglobulin lambda like polypeptide 1 |
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IAGP |
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HPO |
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MIM:613500 |
NCBI chr22:23,573,125...23,580,290
Ensembl chr22:23,573,125...23,580,302
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G |
IKBKB |
inhibitor of nuclear factor kappa B kinase subunit beta |
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IAGP |
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HPO |
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MIM:618204 |
NCBI chr 8:42,271,302...42,332,460
Ensembl chr 8:42,271,302...42,332,460
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G |
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:98813 |
NCBI chr X:154,541,238...154,565,046
Ensembl chr X:154,541,199...154,565,046
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G |
IL17RA |
interleukin 17 receptor A |
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IAGP |
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HPO |
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MIM:613953 |
NCBI chr22:17,085,000...17,115,693
Ensembl chr22:17,084,954...17,115,693
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G |
IL21R |
interleukin 21 receptor |
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IAGP |
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HPO |
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MIM:615207 |
NCBI chr16:27,402,174...27,452,042
Ensembl chr16:27,402,174...27,452,042
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G |
IL2RB |
interleukin 2 receptor subunit beta |
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IAGP |
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HPO |
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MIM:618495 |
NCBI chr22:37,125,838...37,175,118
Ensembl chr22:37,118,666...37,175,118
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G |
IL6R |
interleukin 6 receptor |
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IAGP |
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HPO |
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MIM:618944 |
NCBI chr 1:154,405,343...154,469,450
Ensembl chr 1:154,405,193...154,469,450
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G |
IL6ST |
interleukin 6 cytokine family signal transducer |
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IAGP |
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HPO |
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MIM:618523 |
NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022
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G |
IL7R |
interleukin 7 receptor |
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IAGP |
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HPO |
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MIM:608971 |
NCBI chr 5:35,856,891...35,879,603
Ensembl chr 5:35,852,695...35,879,603
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G |
INSR |
insulin receptor |
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IAGP |
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HPO |
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MIM:246200 |
NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414
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G |
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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G |
IRF6 |
interferon regulatory factor 6 |
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IAGP |
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HPO |
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ORPHA:199306 |
NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
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G |
JAGN1 |
jagunal homolog 1 |
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IAGP |
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HPO |
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MIM:616022 |
NCBI chr 3:9,890,610...9,894,349
Ensembl chr 3:9,890,574...9,894,349
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G |
JAK3 |
Janus kinase 3 |
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IAGP |
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HPO |
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MIM:600802 |
NCBI chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071
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G |
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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G |
KAT6A |
lysine acetyltransferase 6A |
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IAGP |
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HPO |
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MIM:616268 |
NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994
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G |
KDM6A |
lysine demethylase 6A |
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IAGP |
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HPO |
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MIM:147920 MIM:300867 |
NCBI chr X:44,873,188...45,112,779
Ensembl chr X:44,873,188...45,112,779
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G |
KIF15 |
kinesin family member 15 |
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IAGP |
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HPO |
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ORPHA:261323 |
NCBI chr 3:44,761,794...44,868,687
Ensembl chr 3:44,761,721...44,873,376
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G |
KMT2A |
lysine methyltransferase 2A |
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IAGP |
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HPO |
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MIM:605130 |
NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832
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G |
KMT2D |
lysine methyltransferase 2D |
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IAGP |
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HPO |
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MIM:147920 |
NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
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G |
KMT5B |
lysine methyltransferase 5B |
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IAGP |
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HPO |
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MIM:617788 |
NCBI chr11:68,154,863...68,213,648
Ensembl chr11:68,154,863...68,213,852
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G |
LBR |
lamin B receptor |
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IAGP |
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HPO |
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MIM:169400 |
NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
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G |
LIG1 |
DNA ligase 1 |
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IAGP |
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HPO |
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MIM:619774 |
NCBI chr19:48,115,445...48,170,344
Ensembl chr19:48,115,445...48,170,603
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G |
LIG4 |
DNA ligase 4 |
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IAGP |
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HPO |
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ORPHA:235 |
NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368
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G |
LRBA |
LPS responsive beige-like anchor protein |
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IAGP |
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HPO |
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MIM:614700 |
NCBI chr 4:150,264,435...151,015,727
Ensembl chr 4:150,264,435...151,015,727
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G |
LRRC56 |
leucine rich repeat containing 56 |
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IAGP |
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HPO |
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MIM:618254 ORPHA:244 |
NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912
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G |
MAGT1 |
magnesium transporter 1 |
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IAGP |
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HPO |
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MIM:300853 |
NCBI chr X:77,825,747...77,895,568
Ensembl chr X:77,825,747...77,899,271
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G |
MAP3K7 |
mitogen-activated protein kinase kinase kinase 7 |
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IAGP |
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HPO |
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MIM:157800 |
NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086
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G |
MAPK1 |
mitogen-activated protein kinase 1 |
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IAGP |
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HPO |
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MIM:619087 |
NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
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G |
MCIDAS |
multiciliate differentiation and DNA synthesis associated cell cycle protein |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 5:55,219,564...55,227,315
Ensembl chr 5:55,219,564...55,227,315
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G |
MED12 |
mediator complex subunit 12 |
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IAGP |
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HPO |
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ORPHA:2728 |
NCBI chr X:71,118,596...71,142,450
Ensembl chr X:71,118,543...71,144,103
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G |
MEG3 |
maternally expressed 3 |
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IAGP |
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HPO |
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ORPHA:254531 ORPHA:96184 |
NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,206...100,861,031
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G |
MGP |
matrix Gla protein |
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IAGP |
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HPO |
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MIM:245150 ORPHA:85202 |
NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857
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G |
MLXIPL |
MLX interacting protein like |
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IAGP |
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HPO |
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MIM:194050 |
NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543
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G |
MNS1 |
meiosis specific nuclear structural 1 |
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IAGP |
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HPO |
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MIM:618948 |
NCBI chr15:56,428,724...56,465,137
Ensembl chr15:56,421,544...56,465,137
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G |
MSX1 |
msh homeobox 1 |
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IAGP |
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HPO |
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ORPHA:199306 |
NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
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G |
NAA10 |
N-alpha-acetyltransferase 10, NatA catalytic subunit |
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IAGP |
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HPO |
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MIM:300855 MIM:309800 |
NCBI chr X:153,929,225...153,935,037
Ensembl chr X:153,929,225...153,935,080
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G |
NBN |
nibrin |
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IAGP |
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HPO |
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MIM:251260 |
NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228
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G |
NCKAP1L |
NCK associated protein 1 like |
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IAGP |
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HPO |
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MIM:618982 |
NCBI chr12:54,497,752...54,548,243
Ensembl chr12:54,497,752...54,548,243
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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:199306 |
NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
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G |
NEK10 |
NIMA related kinase 10 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 3:27,106,484...27,369,383
Ensembl chr 3:27,106,484...27,369,460
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G |
NFKB2 |
nuclear factor kappa B subunit 2 |
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IAGP |
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HPO |
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MIM:615577 ORPHA:293978 |
NCBI chr10:102,394,110...102,402,529
Ensembl chr10:102,394,110...102,402,524
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G |
NFKBIA |
NFKB inhibitor alpha |
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IAGP |
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HPO |
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ORPHA:98813 |
NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749
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G |
NME5 |
NME/NM23 family member 5 |
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IAGP |
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HPO |
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MIM:620032 ORPHA:244 |
NCBI chr 5:138,115,175...138,139,428
Ensembl chr 5:138,115,175...138,139,443
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G |
NME8 |
NME/NM23 family member 8 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 7:37,848,597...37,900,397
Ensembl chr 7:37,848,597...37,900,397
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G |
NSUN2 |
NOP2/Sun RNA methyltransferase 2 |
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IAGP |
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HPO |
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ORPHA:235 |
NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291
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G |
ODAD1 |
outer dynein arm docking complex subunit 1 |
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IAGP |
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HPO |
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MIM:615067 ORPHA:244 |
NCBI chr19:48,296,452...48,321,971
Ensembl chr19:48,296,457...48,321,971
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G |
ODAD2 |
outer dynein arm docking complex subunit 2 |
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IAGP |
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HPO |
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MIM:615451 ORPHA:244 |
NCBI chr10:27,812,168...27,999,675
Ensembl chr10:27,775,186...27,999,079
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G |
ODAD3 |
outer dynein arm docking complex subunit 3 |
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IAGP |
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HPO |
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MIM:616037 ORPHA:244 |
NCBI chr19:11,420,605...11,435,782
Ensembl chr19:11,420,604...11,435,782
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G |
ODAD4 |
outer dynein arm docking complex subunit 4 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr17:41,930,617...41,966,503
Ensembl chr17:41,930,617...41,966,503
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G |
OFD1 |
OFD1 centriole and centriolar satellite protein |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr X:13,714,505...13,773,738
Ensembl chr X:13,734,743...13,777,955
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G |
PCYT1A |
phosphate cytidylyltransferase 1A, choline |
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IAGP |
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HPO |
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MIM:608940 |
NCBI chr 3:196,234,368...196,287,726
Ensembl chr 3:196,214,222...196,287,957
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G |
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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G |
PGM1 |
phosphoglucomutase 1 |
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IAGP |
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HPO |
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MIM:614921 |
NCBI chr 1:63,593,411...63,660,245
Ensembl chr 1:63,593,411...63,660,245
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G |
PHIP |
pleckstrin homology domain interacting protein |
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IAGP |
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HPO |
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ORPHA:589905 |
NCBI chr 6:78,934,419...79,078,254
Ensembl chr 6:78,934,419...79,078,287
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G |
PIK3CD |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta |
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IAGP |
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HPO |
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ORPHA:397596 |
NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114
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G |
PIK3CG |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma |
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IAGP |
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HPO |
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MIM:619802 |
NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980
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G |
PIK3R1 |
phosphoinositide-3-kinase regulatory subunit 1 |
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IAGP |
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HPO |
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ORPHA:397596 |
NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821
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G |
PLCG2 |
phospholipase C gamma 2 |
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IAGP |
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HPO |
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MIM:614468 |
NCBI chr16:81,739,041...81,962,685
Ensembl chr16:81,738,248...81,962,685
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G |
PLG |
plasminogen |
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IAGP |
ClinVar Annotator: match by term: Otitis media, susceptibility to |
ClinVar |
PMID:10233898 PMID:12850227 PMID:12876630 PMID:15269832 PMID:16849641 PMID:20981092 PMID:22995991 PMID:23629776 PMID:25741868 PMID:26340456 PMID:27976734 PMID:28492532 PMID:30487145 PMID:31064749 PMID:31589614 PMID:31980526 PMID:34355501 More...
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NCBI chr 6:160,702,193...160,754,097
Ensembl chr 6:160,702,194...160,754,097
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G |
POLR1A |
RNA polymerase I subunit A |
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IAGP |
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HPO |
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MIM:616462 |
NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155
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G |
POLR3A |
RNA polymerase III subunit A |
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IAGP |
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HPO |
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ORPHA:3455 |
NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522
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G |
PRKAR1B |
protein kinase cAMP-dependent type I regulatory subunit beta |
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IAGP |
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HPO |
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MIM:619680 |
NCBI chr 7:549,197...728,934
Ensembl chr 7:549,197...727,650
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G |
PRKCD |
protein kinase C delta |
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IAGP |
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HPO |
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MIM:615559 |
NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717
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G |
PSMB8 |
proteasome 20S subunit beta 8 |
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IAGP |
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HPO |
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MIM:256040 |
NCBI chr 6:32,840,717...32,844,679
Ensembl chr 6:32,840,717...32,844,679
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G |
PSMD12 |
proteasome 26S subunit, non-ATPase 12 |
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IAGP |
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HPO |
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ORPHA:529962 |
NCBI chr17:67,337,916...67,366,577
Ensembl chr17:67,337,916...67,366,605
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G |
PTEN |
phosphatase and tensin homolog |
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IAGP |
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HPO |
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MIM:605309 ORPHA:397596 |
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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G |
RAC1 |
Rac family small GTPase 1 |
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IAGP |
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HPO |
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MIM:617751 ORPHA:500159 |
NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967
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G |
RAC2 |
Rac family small GTPase 2 |
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IAGP |
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HPO |
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MIM:618986 |
NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,259,594
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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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G |
RAP1B |
RAP1B, member of RAS oncogene family |
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IAGP |
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HPO |
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MIM:620654 |
NCBI chr12:68,610,899...68,671,901
Ensembl chr12:68,610,855...68,671,901
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G |
RELB |
RELB proto-oncogene, NF-kB subunit |
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IAGP |
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HPO |
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MIM:617585 |
NCBI chr19:45,001,464...45,038,192
Ensembl chr19:45,001,461...45,038,192
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G |
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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RNF2 |
ring finger protein 2 |
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IAGP |
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HPO |
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MIM:619460 |
NCBI chr 1:185,045,558...185,102,603
Ensembl chr 1:185,045,497...185,102,603
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RNU4ATAC |
RNA, U4atac small nuclear |
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IAGP |
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HPO |
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MIM:616651 ORPHA:353298 |
NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
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RPGR |
retinitis pigmentosa GTPase regulator |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr X:38,269,163...38,327,509
Ensembl chr X:38,269,163...38,327,544
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RPL11 |
ribosomal protein L11 |
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IAGP |
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HPO |
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MIM:612562 |
NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835
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RSPH1 |
radial spoke head component 1 |
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IAGP |
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HPO |
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MIM:615481 ORPHA:244 |
NCBI chr21:42,472,486...42,496,224
Ensembl chr21:42,472,486...42,496,246
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RSPH3 |
radial spoke head 3 |
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IAGP |
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HPO |
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MIM:616481 ORPHA:244 |
NCBI chr 6:158,962,980...159,000,202
Ensembl chr 6:158,970,084...159,000,202
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RSPH4A |
radial spoke head component 4A |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 6:116,616,479...116,632,985
Ensembl chr 6:116,616,479...116,632,985
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RSPH9 |
radial spoke head component 9 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 6:43,645,036...43,672,600
Ensembl chr 6:43,645,036...43,672,600
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RTL1 |
retrotransposon Gag like 1 |
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IAGP |
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HPO |
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ORPHA:254531 ORPHA:96184 |
NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722
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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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MIM:615993 |
NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091
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SEC61A1 |
SEC61 translocon subunit alpha 1 |
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IAGP |
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HPO |
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MIM:620670 MIM:620674 |
NCBI chr 3:128,051,641...128,071,683
Ensembl chr 3:128,051,641...128,071,705
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SETD2 |
SET domain containing 2, histone lysine methyltransferase |
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IAGP |
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HPO |
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MIM:616831 |
NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113
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SH3KBP1 |
SH3 domain containing kinase binding protein 1 |
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IAGP |
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HPO |
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MIM:300310 |
NCBI chr X:19,533,977...19,887,600
Ensembl chr X:19,533,977...19,887,600
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SLC35C1 |
solute carrier family 35 member C1 |
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IAGP |
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HPO |
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MIM:266265 ORPHA:99843 |
NCBI chr11:45,804,079...45,813,016
Ensembl chr11:45,804,072...45,813,016
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SLC37A4 |
solute carrier family 37 member 4 |
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IAGP |
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HPO |
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MIM:619525 |
NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906
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SLPI |
secretory leukocyte peptidase inhibitor |
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IAGP |
ClinVar Annotator: match by term: Otitis media, susceptibility to |
ClinVar |
PMID:32709676 |
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NCBI chr20:45,252,239...45,254,564
Ensembl chr20:45,252,239...45,254,564
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SMARCD2 |
SWI/SNF related BAF chromatin remodeling complex subunit D2 |
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IAGP |
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HPO |
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MIM:617475 |
NCBI chr17:63,832,081...63,842,685
Ensembl chr17:63,832,081...63,843,065
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SMG9 |
SMG9 nonsense mediated mRNA decay factor |
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IAGP |
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HPO |
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MIM:619995 |
NCBI chr19:43,727,983...43,754,962
Ensembl chr19:43,727,983...43,754,962
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SPAG1 |
sperm associated antigen 1 |
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IAGP |
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HPO |
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MIM:615505 ORPHA:244 |
NCBI chr 8:100,158,038...100,241,904
Ensembl chr 8:100,157,906...100,259,278
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SPEF2 |
sperm flagellar 2 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr 5:35,617,863...35,814,611
Ensembl chr 5:35,617,844...35,814,611
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SPINK5 |
serine peptidase inhibitor Kazal type 5 |
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IAGP |
ClinVar Annotator: match by term: Otitis media, susceptibility to |
ClinVar |
PMID:28492532 PMID:32709676 |
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NCBI chr 5:148,063,980...148,137,382
Ensembl chr 5:148,025,683...148,137,382
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SRCAP |
Snf2 related CREBBP activator protein |
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IAGP |
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HPO |
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MIM:136140 |
NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409
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SRY |
sex determining region Y |
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IAGP |
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HPO |
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ORPHA:1772 |
NCBI chr Y:2,786,855...2,787,682
Ensembl chr Y:2,786,855...2,787,682
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STIM1 |
stromal interaction molecule 1 |
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IAGP |
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HPO |
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MIM:612783 |
NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210
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STK36 |
serine/threonine kinase 36 |
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IAGP |
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HPO |
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MIM:619436 ORPHA:244 |
NCBI chr 2:218,672,086...218,702,717
Ensembl chr 2:218,672,069...218,702,716
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SYK |
spleen associated tyrosine kinase |
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IAGP |
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HPO |
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MIM:619381 |
NCBI chr 9:90,801,600...90,898,549
Ensembl chr 9:90,801,787...90,898,549
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TAF4 |
TATA-box binding protein associated factor 4 |
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IAGP |
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HPO |
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MIM:620450 |
NCBI chr20:61,974,798...62,065,881
Ensembl chr20:61,953,469...62,065,881
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TAOK1 |
TAO kinase 1 |
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IAGP |
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HPO |
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MIM:619575 |
NCBI chr17:29,390,363...29,551,903
Ensembl chr17:29,390,363...29,551,903
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TBX1 |
T-box transcription factor 1 |
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IAGP |
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HPO |
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MIM:188400 |
NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
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TCF3 |
transcription factor 3 |
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IAGP |
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HPO |
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MIM:616941 |
NCBI chr19:1,609,292...1,652,615
Ensembl chr19:1,609,291...1,652,615
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TFE3 |
transcription factor binding to IGHM enhancer 3 |
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IAGP |
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HPO |
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MIM:301066 |
NCBI chr X:49,028,726...49,043,357
Ensembl chr X:49,028,726...49,043,410
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TLR8 |
toll like receptor 8 |
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IAGP |
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HPO |
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MIM:301078 |
NCBI chr X:12,906,620...12,923,169
Ensembl chr X:12,906,620...12,923,169
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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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MIM:213980 |
NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755
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TNFRSF13B |
TNF receptor superfamily member 13B |
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IAGP |
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HPO |
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MIM:240500 |
NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118
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TNFRSF13C |
TNF receptor superfamily member 13C |
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IAGP |
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HPO |
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MIM:240500 |
NCBI chr22:41,922,032...41,926,806
Ensembl chr22:41,922,032...41,926,806
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TNRC6B |
trinucleotide repeat containing adaptor 6B |
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IAGP |
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HPO |
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MIM:619243 |
NCBI chr22:40,044,834...40,335,808
Ensembl chr22:40,044,817...40,335,808
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TP63 |
tumor protein p63 |
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IAGP |
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HPO |
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MIM:129400 ORPHA:199306 |
NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
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TPP2 |
tripeptidyl peptidase 2 |
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IAGP |
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HPO |
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MIM:619220 ORPHA:444463 |
NCBI chr13:102,596,986...102,679,958
Ensembl chr13:102,596,958...102,679,958
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TRAC |
T cell receptor alpha constant |
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IAGP |
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HPO |
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MIM:615387 |
NCBI chr14:22,547,506...22,552,132
Ensembl chr14:22,547,506...22,552,156
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TTC12 |
tetratricopeptide repeat domain 12 |
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IAGP |
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HPO |
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ORPHA:244 |
NCBI chr11:113,314,583...113,373,297
Ensembl chr11:113,314,579...113,383,544
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UBB |
ubiquitin B |
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IAGP |
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HPO |
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ORPHA:99772 |
NCBI chr17:16,380,779...16,382,745
Ensembl chr17:16,380,798...16,382,745
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UNC119 |
unc-119 lipid binding chaperone |
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IAGP |
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HPO |
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MIM:615518 |
NCBI chr17:28,546,707...28,552,628
Ensembl chr17:28,546,708...28,552,631
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USB1 |
U6 snRNA biogenesis phosphodiesterase 1 |
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IAGP |
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HPO |
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MIM:604173 |
NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618
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USP26 |
ubiquitin specific peptidase 26 |
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IAGP |
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HPO |
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MIM:301101 |
NCBI chr X:133,023,168...133,097,109
Ensembl chr X:133,023,168...133,097,109
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WAS |
WASP actin nucleation promoting factor |
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IAGP |
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HPO |
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MIM:301000 |
NCBI chr X:48,676,636...48,691,427
Ensembl chr X:48,676,596...48,691,431
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WDR26 |
WD repeat domain 26 |
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IAGP |
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HPO |
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MIM:617616 ORPHA:513456 |
NCBI chr 1:224,385,146...224,434,797
Ensembl chr 1:224,385,146...224,437,033
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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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MIM:235730 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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ZMYND10 |
zinc finger MYND-type containing 10 |
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IAGP |
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HPO |
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MIM:615444 ORPHA:244 |
NCBI chr 3:50,341,112...50,345,732
Ensembl chr 3:50,341,110...50,345,732
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ZNF341 |
zinc finger protein 341 |
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IAGP |
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HPO |
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MIM:618282 |
NCBI chr20:33,731,996...33,792,269
Ensembl chr20:33,731,657...33,792,269
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Term paths to the root
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