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: nephronophthisis-like nephropathy 1
Accession: DOID:0111117
browse the term
Definition: A nephronophthisis that has_material_basis_in homozygous mutation in the XPNPEP3 gene on chromosome 22q13.2. (DO)
Synonyms: exact_synonym: NEPHRONOPHTHISIS-LIKE NEPHROPATHY; NPHPL1
primary_id: OMIM:613159 ; RDO:0009892
For additional species annotation, visit the
Alliance of Genome Resources .
G
Chadl
chondroadherin-like
ISO
ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1
ClinVar
PMID:28492532
NCBI chr 7:122,915,847...122,929,127
Ensembl chr 7:122,922,022...122,926,336
G
Ep300
E1A binding protein p300
ISO
ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1
ClinVar
PMID:28492532
NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
G
L3mbtl2
L3MBTL histone methyl-lysine binding protein 2
ISO
ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1
ClinVar
PMID:28492532
NCBI chr 7:122,896,860...122,918,025
Ensembl chr 7:122,896,871...122,918,036
G
Rangap1
RAN GTPase activating protein 1
ISO
ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1
ClinVar
PMID:28492532
NCBI chr 7:122,939,266...122,967,178
Ensembl chr 7:122,940,376...122,967,178
G
Rbx1
ring-box 1
ISO
ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1
ClinVar
PMID:28492532
NCBI chr 7:122,700,849...122,710,907
Ensembl chr 7:122,700,854...122,709,935
G
Xpnpep3
X-prolyl aminopeptidase 3
ISO
ClinVar Annotator: match by OMIM:613159 ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1
OMIM ClinVar
PMID:20179356 PMID:28492532
NCBI chr 7:122,636,252...122,686,983
Ensembl chr 7:122,636,171...122,688,819
G
Zc3h7b
zinc finger CCCH-type containing 7B
ISO
ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1
ClinVar
PMID:28492532
NCBI chr 7:122,978,999...123,027,166
Ensembl chr 7:122,979,021...123,027,150
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