Term: | Neoplasm of the eye |
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Accession: | HP:0100012
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browse the term
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Definition: | A tumor (abnormal growth of tissue) of the eye. |
Synonyms: | exact_synonym: | Eye tumor; Eye tumour |
| related_synonym: | Neoplasia of the eye |
| xref: | NCI:C3262; SNOMEDCT_US:371486001; UMLS:C0015414 |
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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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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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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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NDP |
norrin cystine knot growth factor NDP |
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IAGP |
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HPO |
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ORPHA:649 |
NCBI chr X:43,948,776...43,973,390
Ensembl chr X:43,948,776...43,973,395
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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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BAP1 |
BRCA1 associated deubiquitinase 1 |
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IAGP |
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HPO |
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ORPHA:39044 |
NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
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CYSLTR2 |
cysteinyl leukotriene receptor 2 |
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IAGP |
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HPO |
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ORPHA:39044 |
NCBI chr13:48,653,929...48,711,226
Ensembl chr13:48,653,711...48,711,226
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GNA11 |
G protein subunit alpha 11 |
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IAGP |
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HPO |
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ORPHA:39044 |
NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999
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GNAQ |
G protein subunit alpha q |
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IAGP |
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HPO |
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ORPHA:39044 |
NCBI chr 9:77,716,097...78,031,811
Ensembl chr 9:77,716,097...78,031,811
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SF3B1 |
splicing factor 3b subunit 1 |
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IAGP |
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HPO |
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ORPHA:39044 |
NCBI chr 2:197,389,784...197,435,093
Ensembl chr 2:197,388,515...197,435,079
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BAP1 |
BRCA1 associated deubiquitinase 1 |
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IAGP |
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HPO |
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ORPHA:39044 |
NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
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CYSLTR2 |
cysteinyl leukotriene receptor 2 |
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IAGP |
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HPO |
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ORPHA:39044 |
NCBI chr13:48,653,929...48,711,226
Ensembl chr13:48,653,711...48,711,226
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GNA11 |
G protein subunit alpha 11 |
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IAGP |
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HPO |
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ORPHA:39044 |
NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999
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GNAQ |
G protein subunit alpha q |
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IAGP |
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HPO |
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ORPHA:39044 |
NCBI chr 9:77,716,097...78,031,811
Ensembl chr 9:77,716,097...78,031,811
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SF3B1 |
splicing factor 3b subunit 1 |
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IAGP |
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HPO |
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ORPHA:39044 |
NCBI chr 2:197,389,784...197,435,093
Ensembl chr 2:197,388,515...197,435,079
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AKT1 |
AKT serine/threonine kinase 1 |
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IAGP |
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HPO |
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ORPHA:201 |
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
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KLLN |
killin, p53 regulated DNA replication inhibitor |
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IAGP |
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HPO |
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ORPHA:201 |
NCBI chr10:87,859,158...87,863,533
Ensembl chr10:87,859,158...87,863,533
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KRT1 |
keratin 1 |
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IAGP |
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HPO |
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ORPHA:312 |
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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ORPHA:312 |
NCBI chr17:40,818,117...40,822,614
Ensembl chr17:40,818,117...40,822,614
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PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
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IAGP |
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HPO |
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ORPHA:201 |
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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PTEN |
phosphatase and tensin homolog |
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IAGP |
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HPO |
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ORPHA:201 |
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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SDHB |
succinate dehydrogenase complex iron sulfur subunit B |
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IAGP |
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HPO |
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ORPHA:201 |
NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151
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SDHC |
succinate dehydrogenase complex subunit C |
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IAGP |
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HPO |
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ORPHA:201 |
NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206
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SDHD |
succinate dehydrogenase complex subunit D |
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IAGP |
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HPO |
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ORPHA:201 |
NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016
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SEC23B |
SEC23 homolog B, COPII coat complex component |
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IAGP |
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HPO |
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ORPHA:201 |
NCBI chr20:18,507,548...18,561,415
Ensembl chr20:18,507,520...18,561,415
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USF3 |
upstream transcription factor family member 3 |
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IAGP |
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HPO |
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ORPHA:201 |
NCBI chr 3:113,648,385...113,696,642
Ensembl chr 3:113,648,385...113,696,646
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BAP1 |
BRCA1 associated deubiquitinase 1 |
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IAGP |
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HPO |
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ORPHA:39044 |
NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
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CYSLTR2 |
cysteinyl leukotriene receptor 2 |
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IAGP |
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HPO |
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ORPHA:39044 |
NCBI chr13:48,653,929...48,711,226
Ensembl chr13:48,653,711...48,711,226
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GNA11 |
G protein subunit alpha 11 |
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IAGP |
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HPO |
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ORPHA:39044 |
NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999
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GNAQ |
G protein subunit alpha q |
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IAGP |
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HPO |
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ORPHA:39044 |
NCBI chr 9:77,716,097...78,031,811
Ensembl chr 9:77,716,097...78,031,811
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SF3B1 |
splicing factor 3b subunit 1 |
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IAGP |
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HPO |
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ORPHA:39044 |
NCBI chr 2:197,389,784...197,435,093
Ensembl chr 2:197,388,515...197,435,079
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MSH6 |
mutS homolog 6 |
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IAGP |
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HPO |
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MIM:619097 |
NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063
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NF1 |
neurofibromin 1 |
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IAGP |
ClinVar Annotator: match by term: Iris hamartomas ClinVar Annotator: match by term: Lisch nodules |
ClinVar HPO |
PMID:9150739 PMID:9475595 PMID:10678181 PMID:10712197 PMID:15146469 PMID:16835897 PMID:16944272 PMID:18484666 PMID:19142971 PMID:22108604 PMID:23460398 PMID:23668869 PMID:23758643 PMID:23913538 PMID:25074460 PMID:25403449 PMID:25741868 PMID:26467025 PMID:27069254 PMID:27838393 PMID:28492532 PMID:29872168 PMID:30014477 PMID:30308447 PMID:31776437 PMID:34080803 PMID:34427956 PMID:35885913 More...
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MIM:162200 MIM:162210 MIM:193520 MIM:601321 ORPHA:363700 ORPHA:97685 |
NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
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NF2 |
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor |
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IAGP |
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HPO |
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MIM:101000 |
NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,553...29,698,598
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SPRED1 |
sprouty related EVH1 domain containing 1 |
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IAGP |
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HPO |
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ORPHA:137605 |
NCBI chr15:38,252,836...38,357,249
Ensembl chr15:38,252,836...38,357,249
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IFNG |
interferon gamma |
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IAGP |
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HPO |
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ORPHA:805 |
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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TSC1 |
TSC complex subunit 1 |
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IAGP |
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HPO |
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ORPHA:805 |
NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
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TSC2 |
TSC complex subunit 2 |
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IAGP |
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HPO |
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ORPHA:805 |
NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
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CCND1 |
cyclin D1 |
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IAGP |
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HPO |
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MIM:193300 ORPHA:892 |
NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
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DLST |
dihydrolipoamide S-succinyltransferase |
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IAGP |
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HPO |
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ORPHA:29072 |
NCBI chr14:74,881,916...74,903,743
Ensembl chr14:74,881,891...74,903,743
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FH |
fumarate hydratase |
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IAGP |
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HPO |
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ORPHA:29072 |
NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799
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KIF1B |
kinesin family member 1B |
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IAGP |
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HPO |
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ORPHA:29072 |
NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603
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MAX |
MYC associated factor X |
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IAGP |
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HPO |
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ORPHA:29072 |
NCBI chr14:65,006,101...65,102,695
Ensembl chr14:65,006,174...65,102,695
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MDH2 |
malate dehydrogenase 2 |
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IAGP |
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HPO |
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ORPHA:29072 |
NCBI chr 7:76,048,106...76,067,508
Ensembl chr 7:76,048,051...76,067,508
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NF1 |
neurofibromin 1 |
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IAGP |
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HPO |
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ORPHA:29072 |
NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
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RET |
ret proto-oncogene |
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IAGP |
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HPO |
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ORPHA:29072 |
NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
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SDHA |
succinate dehydrogenase complex flavoprotein subunit A |
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IAGP |
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HPO |
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ORPHA:29072 |
NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082
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SDHAF2 |
succinate dehydrogenase complex assembly factor 2 |
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IAGP |
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HPO |
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ORPHA:29072 |
NCBI chr11:61,430,124...61,446,733
Ensembl chr11:61,430,042...61,446,839
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SDHB |
succinate dehydrogenase complex iron sulfur subunit B |
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IAGP |
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HPO |
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ORPHA:29072 |
NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151
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SDHC |
succinate dehydrogenase complex subunit C |
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IAGP |
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HPO |
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ORPHA:29072 |
NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206
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SDHD |
succinate dehydrogenase complex subunit D |
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IAGP |
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HPO |
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ORPHA:29072 |
NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016
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SLC25A11 |
solute carrier family 25 member 11 |
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IAGP |
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HPO |
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ORPHA:29072 |
NCBI chr17:4,937,130...4,940,046
Ensembl chr17:4,937,130...4,940,053
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TMEM127 |
transmembrane protein 127 |
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IAGP |
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HPO |
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ORPHA:29072 |
NCBI chr 2:96,248,514...96,265,997
Ensembl chr 2:96,248,500...96,266,047
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VHL |
von Hippel-Lindau tumor suppressor |
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IAGP |
ClinVar Annotator: match by term: Retinal hemangioblastoma |
HPO ClinVar |
PMID:7728151 PMID:7987306 PMID:10567493 PMID:12114495 PMID:15611064 PMID:18423895 PMID:22799452 PMID:23384228 PMID:25741868 PMID:28492532 PMID:31620170 PMID:35319492 More...
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MIM:193300 ORPHA:29072 ORPHA:892 |
NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676
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AKT1 |
AKT serine/threonine kinase 1 |
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IAGP |
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HPO |
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ORPHA:744 |
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
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IFNG |
interferon gamma |
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IAGP |
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HPO |
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MIM:613254 ORPHA:805 |
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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NF2 |
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor |
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IAGP |
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HPO |
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MIM:101000 ORPHA:637 |
NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,553...29,698,598
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TSC1 |
TSC complex subunit 1 |
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IAGP |
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HPO |
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MIM:191100 ORPHA:538 ORPHA:805 |
NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
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TSC2 |
TSC complex subunit 2 |
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IAGP |
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HPO |
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MIM:613254 ORPHA:538 ORPHA:805 |
NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
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CDKN2A |
cyclin dependent kinase inhibitor 2A |
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IAGP |
ClinVar Annotator: match by term: Retinoblastoma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
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CHEK2 |
checkpoint kinase 2 |
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IAGP |
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HPO |
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MIM:259500 |
NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422
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FANCM |
FA complementation group M |
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IAGP |
ClinVar Annotator: match by term: Retinoblastoma |
ClinVar |
PMID:25741868 |
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NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890
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ITM2B |
integral membrane protein 2B |
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IAGP |
ClinVar Annotator: match by term: Retinoblastoma |
ClinVar |
PMID:8099255 PMID:12541220 PMID:14722923 PMID:17096365 PMID:22180099 PMID:23301675 PMID:25741868 PMID:28492532 PMID:28575107 PMID:29568217 More...
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NCBI chr13:48,233,206...48,270,357
Ensembl chr13:48,232,612...48,270,357
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LOC124885096 |
Sharpr-MPRA regulatory region 1366 |
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IAGP |
ClinVar Annotator: match by term: Retinoblastoma |
ClinVar |
PMID:25741868 |
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NCBI chr13:48,199,453...48,199,747
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LOC130009751 |
ATAC-STARR-seq lymphoblastoid silent region 5331 |
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IAGP |
ClinVar Annotator: match by term: Retinoblastoma |
ClinVar |
PMID:25741868 |
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NCBI chr13:48,233,082...48,233,441
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LOC130009752 |
ATAC-STARR-seq lymphoblastoid silent region 5332 |
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IAGP |
ClinVar Annotator: match by term: Retinoblastoma |
ClinVar |
PMID:25741868 |
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NCBI chr13:48,233,452...48,233,661
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LOC130009753 |
ATAC-STARR-seq lymphoblastoid active region 7725 |
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IAGP |
ClinVar Annotator: match by term: Retinoblastoma |
ClinVar |
PMID:25741868 |
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NCBI chr13:48,287,247...48,287,306
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LOC130009754 |
ATAC-STARR-seq lymphoblastoid active region 7726 |
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IAGP |
ClinVar Annotator: match by term: Retinoblastoma |
ClinVar |
PMID:12541220 PMID:17096365 PMID:21505449 PMID:22909775 PMID:25741868 PMID:28492532 More...
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NCBI chr13:48,304,403...48,304,452
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G |
LOC130009755 |
ATAC-STARR-seq lymphoblastoid active region 7727 |
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IAGP |
ClinVar Annotator: match by term: Retinoblastoma |
ClinVar |
PMID:12541220 PMID:17096365 PMID:21505449 PMID:22909775 PMID:25741868 PMID:28492532 More...
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NCBI chr13:48,304,693...48,304,762
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LPAR6 |
lysophosphatidic acid receptor 6 |
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IAGP |
ClinVar Annotator: match by term: Retinoblastoma |
ClinVar |
PMID:8099255 PMID:12541220 PMID:17096365 PMID:20090211 PMID:21505449 PMID:22909775 PMID:23301675 PMID:24225018 PMID:25640679 PMID:25741868 PMID:27879208 PMID:28492532 PMID:28575107 PMID:29568217 PMID:33456302 PMID:33493472 More...
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NCBI chr13:48,389,571...48,444,669
Ensembl chr13:48,389,567...48,444,704
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MAX |
MYC associated factor X |
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IAGP |
ClinVar Annotator: match by term: Retinoblastoma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr14:65,006,101...65,102,695
Ensembl chr14:65,006,174...65,102,695
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MED4 |
mediator complex subunit 4 |
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IAGP |
ClinVar Annotator: match by term: Retinoblastoma |
ClinVar |
PMID:8099255 PMID:12541220 PMID:14722923 PMID:17096365 PMID:22180099 PMID:23301675 PMID:28492532 PMID:28575107 PMID:29568217 More...
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NCBI chr13:48,075,724...48,095,104
Ensembl chr13:48,053,323...48,095,131
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MUTYH |
mutY DNA glycosylase |
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IAGP |
ClinVar Annotator: match by term: Retinoblastoma |
ClinVar |
PMID:25741868 PMID:26467025 PMID:26947005 PMID:28135145 PMID:28492532 PMID:30267214 PMID:33471991 PMID:34326862 More...
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NCBI chr 1:45,329,242...45,340,440
Ensembl chr 1:45,329,163...45,340,893
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NF1 |
neurofibromin 1 |
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IAGP |
ClinVar Annotator: match by term: Retinoblastoma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
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G |
NUDT15 |
nudix hydrolase 15 |
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IAGP |
ClinVar Annotator: match by term: Retinoblastoma |
ClinVar |
PMID:8099255 PMID:12541220 PMID:14722923 PMID:17096365 PMID:22180099 PMID:23301675 PMID:28492532 PMID:28575107 PMID:29568217 More...
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NCBI chr13:48,037,726...48,052,755
Ensembl chr13:48,037,726...48,047,221
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G |
PALB2 |
partner and localizer of BRCA2 |
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IAGP |
ClinVar Annotator: match by term: Retinoblastoma |
ClinVar |
PMID:23555315 PMID:25085752 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28873162 PMID:32832836 PMID:32868316 More...
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NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321
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G |
PTCH1 |
patched 1 |
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IAGP |
ClinVar Annotator: match by term: Retinoblastoma |
ClinVar |
PMID:24728327 PMID:25741868 PMID:28492532 |
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NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
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G |
RB1 |
RB transcriptional corepressor 1 |
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IAGP |
DNA:mutations:promoter, intron, exon:multiple ClinVar Annotator: match by term: Retinoblastoma DNA:mutations:exon, intron:multiple |
ClinVar HPO RGD |
PMID:1298292 PMID:1352398 PMID:1352883 PMID:1577465 PMID:1662795 PMID:1881452 PMID:2181449 PMID:2594029 PMID:2601691 PMID:2673542 PMID:2748600 PMID:7704558 PMID:7795591 PMID:7881418 PMID:7927327 PMID:7981694 PMID:8049153 PMID:8099255 PMID:8118465 PMID:8217609 PMID:8346255 PMID:8364580 PMID:8605116 PMID:8651278 PMID:8756645 PMID:8776589 PMID:9311732 PMID:9341870 PMID:9400934 PMID:9495340 PMID:9536098 PMID:9632788 PMID:9639842 PMID:9671401 PMID:9973307 PMID:10023315 PMID:10486322 PMID:10617920 PMID:10671068 PMID:10673998 PMID:10882758 PMID:10966849 PMID:10991691 PMID:11189328 PMID:11317357 PMID:11317369 PMID:11333669 PMID:11480772 PMID:11668642 PMID:12016586 PMID:12173465 PMID:12402348 PMID:12502741 PMID:12541220 PMID:12955724 PMID:14516425 PMID:14722923 PMID:14769601 PMID:15166261 PMID:15591264 PMID:15605413 PMID:15643604 PMID:15776430 PMID:15884040 PMID:16127685 PMID:16199547 PMID:16269091 PMID:16343894 PMID:16449662 PMID:16463005 PMID:16595082 PMID:16682285 PMID:16988938 PMID:17096365 PMID:17299438 PMID:17576681 PMID:17960112 PMID:17996702 PMID:18000883 PMID:18181215 PMID:18449911 PMID:18503160 PMID:18677112 PMID:18682685 PMID:19280657 PMID:19339519 PMID:19390654 PMID:19491728 PMID:19763152 PMID:20041224 PMID:20059380 PMID:20090211 PMID:20301625 PMID:20307669 PMID:20447117 PMID:20594292 PMID:20596833 PMID:20808897 PMID:21402997 PMID:21505449 PMID:21520333 PMID:21538077 PMID:21615945 PMID:21654082 PMID:21763628 PMID:22084214 PMID:22180099 PMID:22205104 PMID:22219649 PMID:22328814 PMID:22406018 PMID:22703879 PMID:22744425 PMID:22909775 PMID:22963398 PMID:23301675 PMID:23474753 PMID:23532519 PMID:23595191 PMID:23820649 PMID:23981928 PMID:24033266 PMID:24078560 PMID:24082139 PMID:24225018 PMID:24282159 PMID:24336570 PMID:24347427 PMID:24448499 PMID:24509483 PMID:24688104 PMID:24728327 PMID:24791139 PMID:24810223 PMID:24888624 PMID:25424699 PMID:25525159 PMID:25602518 PMID:25640679 PMID:25712084 PMID:25741868 PMID:25754945 PMID:25758528 PMID:25928201 PMID:25999316 PMID:26084579 PMID:26332594 PMID:26396485 PMID:26530098 PMID:26539030 PMID:26580448 PMID:26747767 PMID:26764160 PMID:26787237 PMID:26925970 PMID:26934580 PMID:27021801 PMID:27153395 PMID:27155049 PMID:27283993 PMID:27582626 PMID:27879208 PMID:27906792 PMID:27983729 PMID:28137276 PMID:28193182 PMID:28202063 PMID:28301456 PMID:28401291 PMID:28492532 PMID:28575107 PMID:28580595 PMID:28606269 PMID:28724667 PMID:28803391 PMID:28873162 PMID:28875981 PMID:29192238 PMID:29261756 PMID:29316426 PMID:29453956 PMID:29568217 PMID:29607586 PMID:29625052 PMID:29641532 PMID:29662154 PMID:29684080 PMID:30031154 PMID:30181556 PMID:30636860 PMID:30773851 PMID:30842500 PMID:31106028 PMID:31158355 PMID:31568710 PMID:31645765 PMID:31772335 PMID:32091409 PMID:32218800 PMID:32835838 PMID:32974172 PMID:33225895 PMID:33258708 PMID:33456302 PMID:33493472 PMID:33606809 PMID:34190019 PMID:34277001 PMID:34294096 PMID:34308366 PMID:34456592 PMID:34478740 PMID:34645364 PMID:34680218 PMID:35534704 PMID:17096365 PMID:12402348 More...
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MIM:180200 MIM:259500 ORPHA:1587, RGD:8547984, RGD:8547986 |
NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
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G |
RB1-DT |
RB1 divergent transcript |
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IAGP |
ClinVar Annotator: match by term: Retinoblastoma |
ClinVar |
PMID:1881452 PMID:8049153 PMID:12541220 PMID:25741868 PMID:28492532 PMID:28873162 PMID:30636860 PMID:32218800 PMID:33258708 PMID:33493472 More...
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NCBI chr13:48,296,513...48,303,702
Ensembl chr13:48,291,549...48,303,723
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RCBTB2 |
RCC1 and BTB domain containing protein 2 |
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IAGP |
ClinVar Annotator: match by term: Retinoblastoma |
ClinVar |
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NCBI chr13:48,488,963...48,535,895
Ensembl chr13:48,488,963...48,533,256
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SUCLA2 |
succinate-CoA ligase ADP-forming subunit beta |
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IAGP |
ClinVar Annotator: match by term: Retinoblastoma |
ClinVar |
PMID:17096365 PMID:28492532 |
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NCBI chr13:47,942,656...48,001,273
Ensembl chr13:47,745,736...48,037,968
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G |
TP53 |
tumor protein p53 |
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IAGP |
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HPO |
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MIM:259500 |
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
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G |
BAP1 |
BRCA1 associated deubiquitinase 1 |
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IAGP |
ClinVar Annotator: match by term: Uveal melanoma |
ClinVar HPO |
PMID:25741868 PMID:31186267 |
MIM:606661 MIM:614327 |
NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
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BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
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IAGP |
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HPO |
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MIM:155600 |
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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GNA11 |
G protein subunit alpha 11 |
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IAGP |
ClinVar Annotator: match by term: Uveal melanoma |
ClinVar |
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NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999
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GNAQ |
G protein subunit alpha q |
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IAGP |
ClinVar Annotator: match by term: Uveal melanoma |
ClinVar |
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NCBI chr 9:77,716,097...78,031,811
Ensembl chr 9:77,716,097...78,031,811
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MBD4 |
methyl-CpG binding domain 4, DNA glycosylase |
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IAGP |
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HPO |
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MIM:606660 MIM:619975 |
NCBI chr 3:129,430,947...129,439,948
Ensembl chr 3:129,430,947...129,440,179
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PLCB4 |
phospholipase C beta 4 |
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IAGP |
ClinVar Annotator: match by term: Uveal melanoma |
ClinVar |
PMID:31186267 |
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NCBI chr20:9,068,678...9,480,808
Ensembl chr20:9,067,825...9,504,593
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STK11 |
serine/threonine kinase 11 |
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IAGP |
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HPO |
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MIM:155600 |
NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
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G |
TMEM127 |
transmembrane protein 127 |
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IAGP |
ClinVar Annotator: match by term: Uveal melanoma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:96,248,514...96,265,997
Ensembl chr 2:96,248,500...96,266,047
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Term paths to the root
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