Term: | Erythema |
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Accession: | HP:0010783
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browse the term
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Definition: | Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. |
Synonyms: | exact_synonym: | Redness of skin or mucous membrane |
| xref: | SNOMEDCT_US:20255002; SNOMEDCT_US:238810007; SNOMEDCT_US:247441003; SNOMEDCT_US:271811009; SNOMEDCT_US:444827008; SNOMEDCT_US:70819003; SNOMEDCT_US:86735004; UMLS:C0016382; UMLS:C0041834 |
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ADAM17 |
ADAM metallopeptidase domain 17 |
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IAGP |
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HPO |
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ORPHA:294023 |
NCBI chr 2:9,488,486...9,555,830
Ensembl chr 2:9,488,486...9,556,732
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ALDH3A2 |
aldehyde dehydrogenase 3 family member A2 |
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IAGP |
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HPO |
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ORPHA:816 |
NCBI chr17:19,648,136...19,677,596
Ensembl chr17:19,648,136...19,685,760
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ALOX12B |
arachidonate 12-lipoxygenase, 12R type |
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IAGP |
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HPO |
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MIM:242100 |
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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MIM:242100 MIM:606545 |
NCBI chr17:8,095,900...8,118,916
Ensembl chr17:8,095,900...8,119,047
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AP1S1 |
adaptor related protein complex 1 subunit sigma 1 |
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IAGP |
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HPO |
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MIM:609313 |
NCBI chr 7:101,154,476...101,161,276
Ensembl chr 7:101,154,456...101,161,596
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AQP5 |
aquaporin 5 |
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IAGP |
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HPO |
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ORPHA:2337 |
NCBI chr12:49,961,872...49,965,682
Ensembl chr12:49,961,872...49,965,682
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ATP2C1 |
ATPase secretory pathway Ca2+ transporting 1 |
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IAGP |
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HPO |
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MIM:169600 ORPHA:2841 |
NCBI chr 3:130,850,595...131,016,712
Ensembl chr 3:130,850,595...131,016,712
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BMS1 |
BMS1 ribosome biogenesis factor |
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IAGP |
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HPO |
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ORPHA:1114 |
NCBI chr10:42,782,795...42,834,937
Ensembl chr10:42,782,795...42,834,937
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CD28 |
CD28 molecule |
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IAGP |
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HPO |
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ORPHA:2584 |
NCBI chr 2:203,706,482...203,738,912
Ensembl chr 2:203,706,517...203,739,756
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CDKN1B |
cyclin dependent kinase inhibitor 1B |
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IAGP |
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HPO |
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ORPHA:276152 |
NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369
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CLEC7A |
C-type lectin domain containing 7A |
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IAGP |
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HPO |
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ORPHA:1334 |
NCBI chr12:10,116,777...10,130,304
Ensembl chr12:10,116,777...10,130,258
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COL1A1 |
collagen type I alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:31112 |
NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
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COL7A1 |
collagen type VII alpha 1 chain |
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IAGP |
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HPO |
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ORPHA:158673 |
NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
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COX7B |
cytochrome c oxidase subunit 7B |
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IAGP |
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HPO |
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ORPHA:2556 |
NCBI chr X:77,899,468...77,907,376
Ensembl chr X:77,899,440...77,907,376
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CSTA |
cystatin A |
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IAGP |
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HPO |
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ORPHA:263534 |
NCBI chr 3:122,325,248...122,341,969
Ensembl chr 3:122,325,248...122,341,969
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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:2584 |
NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
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CTSB |
cathepsin B |
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IAGP |
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HPO |
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MIM:148370 ORPHA:50943 |
NCBI chr 8:11,842,524...11,868,087
Ensembl chr 8:11,842,524...11,869,533
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DBR1 |
debranching RNA lariats 1 |
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IAGP |
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HPO |
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MIM:620510 |
NCBI chr 3:138,160,988...138,174,921
Ensembl chr 3:138,160,988...138,174,949
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DDB2 |
damage specific DNA binding protein 2 |
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IAGP |
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HPO |
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ORPHA:910 |
NCBI chr11:47,214,454...47,239,217
Ensembl chr11:47,214,465...47,239,217
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DDR2 |
discoidin domain receptor tyrosine kinase 2 |
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IAGP |
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HPO |
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MIM:618175 |
NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
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DLL4 |
delta like canonical Notch ligand 4 |
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IAGP |
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HPO |
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ORPHA:1114 |
NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073
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DSG4 |
desmoglein 4 |
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IAGP |
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HPO |
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MIM:607903 |
NCBI chr18:31,376,777...31,414,909
Ensembl chr18:31,376,777...31,414,912
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DSP |
desmoplakin |
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IAGP |
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HPO |
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MIM:615821 |
NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717
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DST |
dystonin |
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IAGP |
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HPO |
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MIM:614653 |
NCBI chr 6:56,457,996...56,954,830
Ensembl chr 6:56,457,987...56,954,830
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EGFR |
epidermal growth factor receptor |
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IAGP |
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HPO |
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ORPHA:294023 |
NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
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ELOVL4 |
ELOVL fatty acid elongase 4 |
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IAGP |
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HPO |
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MIM:614457 |
NCBI chr 6:79,914,814...79,947,553
Ensembl chr 6:79,914,814...79,947,553
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ERCC2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
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IAGP |
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HPO |
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ORPHA:910 |
NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
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ERCC3 |
ERCC excision repair 3, TFIIH core complex helicase subunit |
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IAGP |
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HPO |
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ORPHA:910 |
NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166
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ERCC4 |
ERCC excision repair 4, endonuclease catalytic subunit |
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IAGP |
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HPO |
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MIM:278760 ORPHA:910 |
NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
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ERCC5 |
ERCC excision repair 5, endonuclease |
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IAGP |
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HPO |
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ORPHA:910 |
NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995
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FECH |
ferrochelatase |
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IAGP |
ClinVar Annotator: match by term: Erythema |
ClinVar HPO |
PMID:1729699 PMID:11753383 PMID:14669009 PMID:16385445 PMID:16958804 PMID:17875872 PMID:18758989 PMID:20105171 PMID:21132468 PMID:22591014 PMID:23016163 PMID:23364466 PMID:25741868 PMID:26280465 PMID:28054335 PMID:28093505 PMID:28492532 PMID:29941360 PMID:30594473 PMID:31304091 More...
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MIM:177000 ORPHA:79278 |
NCBI chr18:57,544,377...57,586,702
Ensembl chr18:57,544,377...57,586,732
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FERMT1 |
FERM domain containing kindlin 1 |
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IAGP |
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HPO |
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ORPHA:2908 |
NCBI chr20:6,074,845...6,123,030
Ensembl chr20:6,074,845...6,123,214
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GJA1 |
gap junction protein alpha 1 |
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IAGP |
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HPO |
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MIM:617525 ORPHA:317 |
NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
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GJB3 |
gap junction protein beta 3 |
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IAGP |
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HPO |
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ORPHA:317 |
NCBI chr 1:34,781,214...34,786,364
Ensembl chr 1:34,781,214...34,786,369
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GJB4 |
gap junction protein beta 4 |
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IAGP |
DNA:missense mutations:exon:multiple |
HPO RGD |
PMID:12648223 |
MIM:617524 ORPHA:317, RGD:1598970 |
NCBI chr 1:34,759,740...34,762,327
Ensembl chr 1:34,759,740...34,762,327
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GLUL |
glutamate-ammonia ligase |
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IAGP |
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HPO |
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MIM:610015 |
NCBI chr 1:182,378,098...182,391,790
Ensembl chr 1:182,378,098...182,392,206
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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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HCCS |
holocytochrome c synthase |
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IAGP |
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HPO |
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ORPHA:2556 |
NCBI chr X:11,111,332...11,123,086
Ensembl chr X:11,111,301...11,123,086
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HLA-B |
major histocompatibility complex, class I, B |
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IAGP |
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HPO |
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ORPHA:36426 |
NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
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HLA-DQA1 |
major histocompatibility complex, class II, DQ alpha 1 |
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IAGP |
DNA:polymorphisms, haplotypes:multiple |
RGD |
PMID:17559688 |
RGD:5147792 |
NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062
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HLA-DQB1 |
major histocompatibility complex, class II, DQ beta 1 |
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IAGP |
DNA:polymorphisms, haplotypes:multiple |
HPO RGD |
PMID:17559688 |
ORPHA:703, RGD:5147792 |
NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
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HLA-DRB1 |
major histocompatibility complex, class II, DR beta 1 |
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IAGP |
DNA:polymorphisms, haplotypes:multiple |
HPO RGD |
PMID:17559688 |
ORPHA:703, RGD:5147792 |
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
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HPGD |
15-hydroxyprostaglandin dehydrogenase |
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IAGP |
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HPO |
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MIM:259100 |
NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154
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IKBKG |
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma |
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IAGP |
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HPO |
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MIM:308300 ORPHA:464 |
NCBI chr X:154,541,238...154,565,046
Ensembl chr X:154,541,199...154,565,046
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IKZF1 |
IKAROS family zinc finger 1 |
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IAGP |
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HPO |
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ORPHA:36426 |
NCBI chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101
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IL17F |
interleukin 17F |
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IAGP |
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HPO |
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ORPHA:1334 |
NCBI chr 6:52,236,681...52,245,689
Ensembl chr 6:52,236,681...52,245,689
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IL17RA |
interleukin 17 receptor A |
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IAGP |
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HPO |
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ORPHA:1334 |
NCBI chr22:17,085,000...17,115,693
Ensembl chr22:17,084,954...17,115,693
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IL17RC |
interleukin 17 receptor C |
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IAGP |
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HPO |
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ORPHA:1334 |
NCBI chr 3:9,917,098...9,933,621
Ensembl chr 3:9,917,074...9,933,630
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IL36RN |
interleukin 36 receptor antagonist |
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IAGP |
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HPO |
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MIM:614204 |
NCBI chr 2:113,058,638...113,064,744
Ensembl chr 2:113,058,638...113,065,382
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ITGA3 |
integrin subunit alpha 3 |
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IAGP |
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HPO |
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MIM:614748 |
NCBI chr17:50,056,110...50,090,481
Ensembl chr17:50,055,968...50,090,481
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ITGB4 |
integrin subunit beta 4 |
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IAGP |
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HPO |
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ORPHA:1114 |
NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818
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KDSR |
3-ketodihydrosphingosine reductase |
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IAGP |
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HPO |
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MIM:617526 ORPHA:316 ORPHA:317 |
NCBI chr18:63,327,726...63,367,206
Ensembl chr18:63,327,726...63,367,228
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KIT |
KIT proto-oncogene, receptor tyrosine kinase |
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IAGP |
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HPO |
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MIM:154800 ORPHA:79455 |
NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
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KLK11 |
kallikrein related peptidase 11 |
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IAGP |
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HPO |
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MIM:620507 |
NCBI chr19:51,022,236...51,027,991
Ensembl chr19:51,022,216...51,028,039
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KRT1 |
keratin 1 |
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IAGP |
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HPO |
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MIM:620148 ORPHA:530838 |
NCBI chr12:52,674,736...52,680,407
Ensembl chr12:52,674,736...52,680,407
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KRT10 |
keratin 10 |
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IAGP |
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HPO |
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MIM:607602 |
NCBI chr17:40,818,117...40,822,614
Ensembl chr17:40,818,117...40,822,614
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KRT14 |
keratin 14 |
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IAGP |
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HPO |
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ORPHA:79396 |
NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
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KRT2 |
keratin 2 |
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IAGP |
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HPO |
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ORPHA:455 |
NCBI chr12:52,644,558...52,652,211
Ensembl chr12:52,644,558...52,652,211
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KRT5 |
keratin 5 |
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IAGP |
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HPO |
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ORPHA:79396 |
NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
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KRT83 |
keratin 83 |
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IAGP |
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HPO |
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ORPHA:316 |
NCBI chr12:52,314,301...52,321,398
Ensembl chr12:52,314,301...52,321,398
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LIG4 |
DNA ligase 4 |
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IAGP |
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HPO |
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ORPHA:99812 |
NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368
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LIPN |
lipase family member N |
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IAGP |
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HPO |
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MIM:613943 |
NCBI chr10:88,757,226...88,779,626
Ensembl chr10:88,759,982...88,779,626
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LOC130062555 |
ATAC-STARR-seq lymphoblastoid active region 13371 |
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IAGP |
ClinVar Annotator: match by term: Erythema |
ClinVar |
PMID:1729699 PMID:25741868 PMID:28492532 |
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NCBI chr18:57,580,195...57,580,244
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LORICRIN |
loricrin cornified envelope precursor protein |
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IAGP |
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HPO |
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ORPHA:316 |
NCBI chr 1:153,259,687...153,262,124
Ensembl chr 1:153,259,687...153,262,124
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LRP1 |
LDL receptor related protein 1 |
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IAGP |
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HPO |
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MIM:604093 ORPHA:79100 |
NCBI chr12:57,128,483...57,213,361
Ensembl chr12:57,128,483...57,213,361
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LYN |
LYN proto-oncogene, Src family tyrosine kinase |
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IAGP |
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HPO |
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MIM:620376 |
NCBI chr 8:55,879,835...56,014,169
Ensembl chr 8:55,879,835...56,014,169
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MBTPS2 |
membrane bound transcription factor peptidase, site 2 |
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IAGP |
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HPO |
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ORPHA:2273 ORPHA:659 |
NCBI chr X:21,839,617...21,885,423
Ensembl chr X:21,839,617...21,885,423
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MEFV |
MEFV innate immunity regulator, pyrin |
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IAGP |
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HPO |
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MIM:608068 ORPHA:342 |
NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
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MT-CO1 |
mitochondrially encoded cytochrome c oxidase I |
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IAGP |
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HPO |
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ORPHA:550 |
NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445
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MT-CO2 |
mitochondrially encoded cytochrome c oxidase II |
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IAGP |
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HPO |
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ORPHA:550 |
NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269
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MT-CO3 |
mitochondrially encoded cytochrome c oxidase III |
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IAGP |
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HPO |
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ORPHA:550 |
NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990
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MT-ND1 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 |
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IAGP |
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HPO |
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ORPHA:550 |
NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262
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MT-ND4 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 |
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IAGP |
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HPO |
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ORPHA:550 |
NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137
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MT-ND5 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 |
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IAGP |
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HPO |
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ORPHA:550 |
NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148
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MT-ND6 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 |
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IAGP |
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HPO |
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ORPHA:550 |
NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673
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MT-TF |
mitochondrially encoded tRNA-Phe (UUU/C) |
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IAGP |
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HPO |
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ORPHA:550 |
NCBI chr MT:577...647
Ensembl chr MT:577...647
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MT-TH |
mitochondrially encoded tRNA-His (CAU/C) |
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IAGP |
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HPO |
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ORPHA:550 |
NCBI chr MT:12,138...12,206
Ensembl chr MT:12,138...12,206
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MT-TL1 |
mitochondrially encoded tRNA-Leu (UUA/G) 1 |
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IAGP |
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HPO |
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ORPHA:550 |
NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304
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MT-TQ |
mitochondrially encoded tRNA-Gln (CAA/G) |
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IAGP |
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HPO |
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ORPHA:550 |
NCBI chr MT:4,329...4,400
Ensembl chr MT:4,329...4,400
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MT-TS1 |
mitochondrially encoded tRNA-Ser (UCN) 1 |
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IAGP |
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HPO |
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ORPHA:550 |
NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514
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MT-TS2 |
mitochondrially encoded tRNA-Ser (AGU/C) 2 |
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IAGP |
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HPO |
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ORPHA:550 |
NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265
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MT-TW |
mitochondrially encoded tRNA-Trp (UGA/G) |
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IAGP |
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HPO |
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ORPHA:550 |
NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579
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MVK |
mevalonate kinase |
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IAGP |
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HPO |
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ORPHA:343 |
NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125
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NAXD |
NAD(P)HX dehydratase |
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IAGP |
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HPO |
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MIM:618321 |
NCBI chr13:110,615,460...110,639,996
Ensembl chr13:110,615,545...110,639,996
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NDUFB11 |
NADH:ubiquinone oxidoreductase subunit B11 |
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IAGP |
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HPO |
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ORPHA:2556 |
NCBI chr X:47,142,216...47,145,491
Ensembl chr X:47,142,071...47,145,466
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NLRP3 |
NLR family pyrin domain containing 3 |
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IAGP |
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HPO |
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ORPHA:47045 |
NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108
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NOD2 |
nucleotide binding oligomerization domain containing 2 |
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IAGP |
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HPO |
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ORPHA:90340 |
NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077
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NSDHL |
NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL |
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IAGP |
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HPO |
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MIM:308050 |
NCBI chr X:152,831,063...152,869,729
Ensembl chr X:152,830,967...152,869,729
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PDGFB |
platelet derived growth factor subunit B |
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IAGP |
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HPO |
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ORPHA:31112 |
NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
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PEPD |
peptidase D |
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IAGP |
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HPO |
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ORPHA:742 |
NCBI chr19:33,386,950...33,521,791
Ensembl chr19:33,386,950...33,521,823
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PERP |
p53 apoptosis effector related to PMP22 |
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IAGP |
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HPO |
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ORPHA:659 |
NCBI chr 6:138,088,505...138,107,419
Ensembl chr 6:138,088,505...138,107,419
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PGM3 |
phosphoglucomutase 3 |
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IAGP |
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HPO |
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MIM:615816 |
NCBI chr 6:83,148,705...83,193,900
Ensembl chr 6:83,147,324...83,193,936
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PIGL |
phosphatidylinositol glycan anchor biosynthesis class L |
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IAGP |
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HPO |
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ORPHA:3474 |
NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797
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PLCG2 |
phospholipase C gamma 2 |
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IAGP |
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HPO |
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MIM:614468 MIM:614878 |
NCBI chr16:81,739,041...81,962,685
Ensembl chr16:81,738,248...81,962,685
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PLEC |
plectin |
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IAGP |
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HPO |
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ORPHA:1114 |
NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
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PORCN |
porcupine O-acyltransferase |
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IAGP |
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HPO |
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ORPHA:2092 |
NCBI chr X:48,508,992...48,520,814
Ensembl chr X:48,508,959...48,520,814
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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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PSMG2 |
proteasome assembly chaperone 2 |
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IAGP |
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HPO |
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MIM:619183 |
NCBI chr18:12,658,738...12,725,740
Ensembl chr18:12,658,043...12,728,945
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RECQL4 |
RecQ like helicase 4 |
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IAGP |
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HPO |
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MIM:218600 ORPHA:221016 |
NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
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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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SCN10A |
sodium voltage-gated channel alpha subunit 10 |
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IAGP |
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HPO |
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ORPHA:90026 |
NCBI chr 3:38,696,807...38,816,217
Ensembl chr 3:38,696,802...38,816,286
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SCN11A |
sodium voltage-gated channel alpha subunit 11 |
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IAGP |
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HPO |
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ORPHA:90026 |
NCBI chr 3:38,845,764...39,051,944
Ensembl chr 3:38,845,764...39,052,157
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SCN9A |
sodium voltage-gated channel alpha subunit 9 |
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IAGP |
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HPO |
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ORPHA:90026 |
NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001
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SERPING1 |
serpin family G member 1 |
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IAGP |
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HPO |
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MIM:106100 |
NCBI chr11:57,597,685...57,614,848
Ensembl chr11:57,597,387...57,619,171
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SLC39A4 |
solute carrier family 39 member 4 |
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IAGP |
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HPO |
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ORPHA:37 |
NCBI chr 8:144,412,414...144,416,844
Ensembl chr 8:144,409,742...144,416,844
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G |
SLURP1 |
secreted LY6/PLAUR domain containing 1 |
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IAGP |
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HPO |
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ORPHA:87503 |
NCBI chr 8:142,740,949...142,742,406
Ensembl chr 8:142,740,949...142,742,406
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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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MIM:147060 |
NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
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STING1 |
stimulator of interferon response cGAMP interactor 1 |
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IAGP |
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HPO |
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MIM:615934 |
NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935
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SULT2B1 |
sulfotransferase family 2B member 1 |
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IAGP |
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HPO |
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MIM:617571 |
NCBI chr19:48,552,172...48,599,427
Ensembl chr19:48,552,172...48,599,425
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TGM1 |
transglutaminase 1 |
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IAGP |
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HPO |
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ORPHA:281127 |
NCBI chr14:24,249,114...24,263,177
Ensembl chr14:24,249,114...24,264,432
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TGM5 |
transglutaminase 5 |
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IAGP |
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HPO |
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MIM:609796 ORPHA:263534 |
NCBI chr15:43,232,590...43,266,928
Ensembl chr15:43,232,590...43,266,928
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TNFRSF1A |
TNF receptor superfamily member 1A |
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IAGP |
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HPO |
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ORPHA:32960 |
NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
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TNFRSF1B |
TNF receptor superfamily member 1B |
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IAGP |
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HPO |
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ORPHA:2584 |
NCBI chr 1:12,166,991...12,209,220
Ensembl chr 1:12,166,991...12,209,228
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TRAF3IP2 |
TRAF3 interacting protein 2 |
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IAGP |
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HPO |
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ORPHA:1334 |
NCBI chr 6:111,555,381...111,605,878
Ensembl chr 6:111,555,381...111,606,906
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TREX1 |
three prime repair exonuclease 1 |
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IAGP |
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HPO |
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MIM:225750 |
NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
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TRPM4 |
transient receptor potential cation channel subfamily M member 4 |
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IAGP |
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HPO |
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ORPHA:316 |
NCBI chr19:49,157,792...49,211,836
Ensembl chr19:49,157,741...49,211,836
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TRPV3 |
transient receptor potential cation channel subfamily V member 3 |
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IAGP |
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HPO |
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ORPHA:659 |
NCBI chr17:3,510,502...3,557,812
Ensembl chr17:3,510,502...3,557,812
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UBA2 |
ubiquitin like modifier activating enzyme 2 |
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IAGP |
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HPO |
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ORPHA:1114 |
NCBI chr19:34,428,381...34,471,251
Ensembl chr19:34,428,352...34,471,251
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WNT10A |
Wnt family member 10A |
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IAGP |
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HPO |
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MIM:257980 |
NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
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XPA |
XPA, DNA damage recognition and repair factor |
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IAGP |
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HPO |
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ORPHA:910 |
NCBI chr 9:97,654,398...97,697,340
Ensembl chr 9:97,674,909...97,697,340
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XPC |
XPC complex subunit, DNA damage recognition and repair factor |
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IAGP |
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HPO |
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ORPHA:910 |
NCBI chr 3:14,145,147...14,178,601
Ensembl chr 3:14,145,145...14,178,621
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XPNPEP2 |
X-prolyl aminopeptidase 2 |
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IAGP |
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HPO |
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ORPHA:100057 |
NCBI chr X:129,738,979...129,769,536
Ensembl chr X:129,738,949...129,769,536
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G |
XRCC4 |
X-ray repair cross complementing 4 |
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IAGP |
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HPO |
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ORPHA:99812 |
NCBI chr 5:83,077,547...83,374,473
Ensembl chr 5:83,077,498...83,353,787
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KRT5 |
keratin 5 |
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IAGP |
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HPO |
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MIM:609352 ORPHA:158681 |
NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
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ADGRE2 |
adhesion G protein-coupled receptor E2 |
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IAGP |
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HPO |
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MIM:125630 |
NCBI chr19:14,724,171...14,778,560
Ensembl chr19:14,732,392...14,778,560
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AIP |
aryl hydrocarbon receptor interacting protein |
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IAGP |
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HPO |
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MIM:219090 |
NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154
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ANAPC1 |
anaphase promoting complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:221008 |
NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690
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BLM |
BLM RecQ like helicase |
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IAGP |
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HPO |
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MIM:210900 |
NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166
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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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GJA1 |
gap junction protein alpha 1 |
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IAGP |
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HPO |
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ORPHA:1010 |
NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
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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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KCNQ2 |
potassium voltage-gated channel subfamily Q member 2 |
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IAGP |
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HPO |
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ORPHA:439218 |
NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677
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MBTPS2 |
membrane bound transcription factor peptidase, site 2 |
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IAGP |
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HPO |
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MIM:308800 |
NCBI chr X:21,839,617...21,885,423
Ensembl chr X:21,839,617...21,885,423
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G |
RECQL4 |
RecQ like helicase 4 |
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IAGP |
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HPO |
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ORPHA:221016 |
NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
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RHOH |
ras homolog family member H |
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IAGP |
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HPO |
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MIM:618307 |
NCBI chr 4:40,191,080...40,246,967
Ensembl chr 4:40,191,011...40,246,967
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USP8 |
ubiquitin specific peptidase 8 |
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IAGP |
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HPO |
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MIM:219090 |
NCBI chr15:50,424,405...50,514,421
Ensembl chr15:50,424,380...50,514,421
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GCGR |
glucagon receptor |
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IAGP |
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HPO |
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ORPHA:438274 |
NCBI chr17:81,804,150...81,814,008
Ensembl chr17:81,804,132...81,814,008
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DSP |
desmoplakin |
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IAGP |
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HPO |
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MIM:605676 |
NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717
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G |
GJA1 |
gap junction protein alpha 1 |
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IAGP |
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HPO |
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MIM:104100 |
NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
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G |
GJA5 |
gap junction protein alpha 5 |
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IAGP |
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HPO |
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MIM:612474 |
NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362
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G |
GJA8 |
gap junction protein alpha 8 |
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IAGP |
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HPO |
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MIM:612474 |
NCBI chr 1:147,902,795...147,914,486
Ensembl chr 1:147,902,795...147,909,269
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G |
WNT10A |
Wnt family member 10A |
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IAGP |
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HPO |
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MIM:257980 |
NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
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ADAM17 |
ADAM metallopeptidase domain 17 |
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IAGP |
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HPO |
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MIM:614328 |
NCBI chr 2:9,488,486...9,555,830
Ensembl chr 2:9,488,486...9,556,732
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G |
MBTPS2 |
membrane bound transcription factor peptidase, site 2 |
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IAGP |
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HPO |
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MIM:308205 |
NCBI chr X:21,839,617...21,885,423
Ensembl chr X:21,839,617...21,885,423
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G |
SLC39A4 |
solute carrier family 39 member 4 |
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IAGP |
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HPO |
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MIM:201100 |
NCBI chr 8:144,412,414...144,416,844
Ensembl chr 8:144,409,742...144,416,844
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G |
ADAM17 |
ADAM metallopeptidase domain 17 |
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IAGP |
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HPO |
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MIM:614328 |
NCBI chr 2:9,488,486...9,555,830
Ensembl chr 2:9,488,486...9,556,732
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G |
SLC39A4 |
solute carrier family 39 member 4 |
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IAGP |
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HPO |
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MIM:201100 |
NCBI chr 8:144,412,414...144,416,844
Ensembl chr 8:144,409,742...144,416,844
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G |
SLURP1 |
secreted LY6/PLAUR domain containing 1 |
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IAGP |
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HPO |
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MIM:248300 |
NCBI chr 8:142,740,949...142,742,406
Ensembl chr 8:142,740,949...142,742,406
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G |
SREBF1 |
sterol regulatory element binding transcription factor 1 |
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IAGP |
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HPO |
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MIM:619016 |
NCBI chr17:17,811,334...17,836,986
Ensembl chr17:17,810,399...17,837,002
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Term paths to the root
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