RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: X-linked Alport syndrome
Accession: DOID:0110034
browse the term
Definition: An Alport syndrome that has_material_basis_in mutation in the gene encoding the alpha-5 chain of basement membrane collagen type IV (COL4A5). (DO)
Synonyms: exact_synonym: ALPORT SYNDROME 1, X-LINKED RECESSIVE; ATS; ATS1; COL4A5-RELATED CONDITION; X-linked Alport syndrome-1; X-linked nephritis; nephropathy and deafness, X-linked
primary_id: OMIM:301050
alt_id: OMIA:001112
xref: ORDO:88917
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ATG4A
autophagy related 4A cysteine peptidase
IAGP
ClinVar Annotator: match by term: X-linked Alport syndrome
ClinVar
NCBI chr X:108,088,829...108,154,671
Ensembl chr X:108,091,668...108,154,671
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COL4A4
collagen type IV alpha 4 chain
IAGP
ClinVar Annotator: match by term: X-linked Alport syndrome
ClinVar
PMID:12028435 PMID:17396119 PMID:19129241 PMID:19675380 PMID:20029656 PMID:24033266 PMID:25514610 PMID:25741868 PMID:25755845 PMID:26467025 PMID:28492532 More...
NCBI chr 2:226,967,360...227,164,488
Ensembl chr 2:227,002,714...227,164,453
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COL4A5
collagen type IV alpha 5 chain
IAGP ISS EXP
ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar Annotator: match by term: COL4A5-related condition | ClinVar Annotator: match by term: X-linked Alport syndrome OMIM:301050 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM
PMID:1330889 PMID:1352287 PMID:1363780 PMID:1376965 PMID:1577459 PMID:1598909 PMID:1635357 PMID:1672282 PMID:1783380 PMID:2349482 PMID:6650503 PMID:7485125 PMID:7599631 PMID:7695699 PMID:7969679 PMID:8218237 PMID:8406498 PMID:8433568 PMID:8455372 PMID:8648925 PMID:8651292 PMID:8651296 PMID:8738805 PMID:8807602 PMID:8825605 PMID:8887300 PMID:8940267 PMID:9150741 PMID:9195222 PMID:9452056 PMID:9536098 PMID:9848783 PMID:10094548 PMID:10561141 PMID:10684360 PMID:10752524 PMID:10862091 PMID:11223851 PMID:11462238 PMID:11572889 PMID:12028435 PMID:12105244 PMID:12796257 PMID:13582260 PMID:14514738 PMID:14604828 PMID:14856448 PMID:14993485 PMID:15044104 PMID:15780079 PMID:15954103 PMID:15957001 PMID:16199547 PMID:16941480 PMID:17277342 PMID:17396119 PMID:17576681 PMID:17660027 PMID:18083113 PMID:18343956 PMID:19019929 PMID:19344236 PMID:19728970 PMID:19919694 PMID:19965530 PMID:20130921 PMID:20301386 PMID:20378821 PMID:20881942 PMID:20884774 PMID:21332469 PMID:21505094 PMID:21688191 PMID:21848006 PMID:22921432 PMID:22995991 PMID:23144074 PMID:23371956 PMID:23572034 PMID:23720012 PMID:23967202 PMID:24033266 PMID:24033287 PMID:24046192 PMID:24077912 PMID:24088041 PMID:24130771 PMID:24304881 PMID:24470729 PMID:24472419 PMID:24522658 PMID:24759409 PMID:24854265 PMID:25183659 PMID:25525159 PMID:25572247 PMID:25575550 PMID:25644381 PMID:25739341 PMID:25741868 PMID:25741911 PMID:25788563 PMID:25876686 PMID:26063487 PMID:26467025 PMID:26613025 PMID:26633545 PMID:26809805 PMID:26934356 PMID:27281700 PMID:27353043 PMID:27627812 PMID:27725732 PMID:28492532 PMID:28542346 PMID:28780565 PMID:28827396 PMID:28844315 PMID:28864840 PMID:29098738 PMID:29127259 PMID:29142990 PMID:29144512 PMID:29198386 PMID:29204651 PMID:29270492 PMID:29526710 PMID:29801666 PMID:29854973 PMID:29959198 PMID:30128941 PMID:30295827 PMID:30311386 PMID:30348286 PMID:30477285 PMID:30577881 PMID:30586318 PMID:30647093 PMID:30655312 PMID:30661074 PMID:30691124 PMID:30773290 PMID:30919572 PMID:31027891 PMID:31096494 PMID:31138263 PMID:31144478 PMID:31576025 PMID:31850286 PMID:32359821 PMID:32405592 PMID:32604935 PMID:32659759 PMID:32939031 PMID:33040356 PMID:33226606 PMID:33233744 PMID:33309955 PMID:33330536 PMID:33369211 PMID:33532864 PMID:33633790 PMID:33854215 PMID:34008892 PMID:34215756 PMID:34400539 PMID:34440452 PMID:35005319 PMID:35022790 PMID:35580552 PMID:35643372 PMID:35802133 PMID:36633841 More...
NCBI chr X:108,439,838...108,697,545
Ensembl chr X:108,439,838...108,697,545
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COL4A6
collagen type IV alpha 6 chain
IAGP
ClinVar Annotator: match by term: X-linked Alport syndrome
ClinVar
NCBI chr X:108,155,614...108,439,458
Ensembl chr X:108,155,607...108,439,497
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FN1
fibronectin 1
IAGP
ClinVar Annotator: match by term: X-linked Alport syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073
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LOC126863300
BRD4-independent group 4 enhancer GRCh37_chrX:107513459-107514658
IAGP
ClinVar Annotator: match by term: X-linked Alport syndrome
ClinVar
NCBI chr X:108,270,229...108,271,428
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LOC126863301
CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:107884720-107885919
IAGP
ClinVar Annotator: match by term: X-linked Alport syndrome
ClinVar
NCBI chr X:108,641,490...108,642,689
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MSR1
macrophage scavenger receptor 1
IAGP
ClinVar Annotator: match by term: X-linked Alport syndrome
ClinVar
PMID:12244320 PMID:12958598 PMID:21791690 PMID:24082139 PMID:25333069 PMID:25741868 PMID:28492532 More...
NCBI chr 8:16,107,881...16,192,651
Ensembl chr 8:16,107,878...16,567,490
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ZC3H12C
zinc finger CCCH-type containing 12C
IAGP
ClinVar Annotator: match by term: X-linked Alport syndrome
ClinVar
PMID:25741868
NCBI chr11:110,093,392...110,171,841
Ensembl chr11:110,093,392...110,171,841
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