lymphangioleiomyomatosis - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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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:	lymphangioleiomyomatosis	go back to main search page
Accession:	DOID:3319	browse the term
Definition:	A lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas. (DO)
Synonyms:	exact_synonym:	LAM; lung lymphangioleiomyomatosis; lymphangioleiomyomatoses; lymphangiomyomatoses; lymphangiomyomatosis; pulmonary lymphangioleiomyomatosis
	narrow_synonym:	somatic lymphangioleiomyomatosis
	primary_id:	MESH:D018192
	alt_id:	OMIM:606690
	xref:	EFO:1000334; GARD:3319; MONDO:0011705; NCI:C3725; NCI:C38153; ORDO:538
For additional species annotation, visit the Alliance of Genome Resources.

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Genes (21)

lymphangioleiomyomatosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acyl-CoA synthetase short-chain family member 2

protein:increased expression:lung (human)

RGD

NCBI chr 3:144,003,808...144,047,452
Ensembl chr 3:144,004,336...144,059,675

G

carnitine palmitoyltransferase 1A

protein:increased expression:lung (human)

RGD

NCBI chr 1:200,564,634...200,627,059
Ensembl chr 1:200,565,613...200,627,055

G

estrogen receptor 1

RGD

NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002

G

glyceraldehyde-3-phosphate dehydrogenase

protein:increased expression:lung (human)

RGD

NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235

G

glutaminase

protein:increased expression:lung (human)

RGD

NCBI chr 9:49,344,616...49,416,900
Ensembl chr 9:49,344,781...49,416,900

G

hes family bHLH transcription factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192

G

jagged canonical Notch ligand 2

CTD Direct Evidence: marker/mechanism

NCBI chr 6:131,983,059...132,005,665
Ensembl chr 6:131,983,056...132,005,818

G

matrix metallopeptidase 3

treatment

RGD

NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961

G

matrix metallopeptidase 9

protein:increased expression:serum, plasma

RGD

NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120

G

nitric oxide synthase 3

protein:increased expression:lung

RGD

NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166

G

nth-like DNA glycosylase 1

ClinVar Annotator: match by term: Lymphangiomyomatosis

PMID:25741868 PMID:28492532

NCBI chr10:13,655,791...13,661,958
Ensembl chr10:13,655,785...13,661,957

G

polycystin 1, transient receptor potential channel interacting

ClinVar Annotator: match by term: Lymphangiomyomatosis

NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128

G

pyruvate kinase M1/2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:60,057,629...60,079,600
Ensembl chr 8:60,057,402...60,079,599

G

RPTOR independent companion of MTOR, complex 2

protein:increased expression:lung (human)

RGD

NCBI chr 2:55,811,877...55,903,893
Ensembl chr 2:55,811,322...55,901,426

G

solute carrier family 16 member 1

protein:increased expression:lung (human)

RGD

NCBI chr 2:192,123,755...192,144,617
Ensembl chr 2:192,124,289...192,144,611

G

serum response factor

RGD

NCBI chr 9:14,426,453...14,435,734
Ensembl chr 9:14,426,472...14,435,733

G

signal transducer and activator of transcription 1

protein:increased serine phosphorylation:lung

RGD

NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540

G

signal transducer and activator of transcription 3

protein:increased tyrosine phosphorylation:lung

RGD

NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057

G

TSC complex subunit 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lymphangioleiomyomatosis | ClinVar Annotator: match by term: Lymphangioleiomyomatosis, somatic | ClinVar Annotator: match by term: Lymphangiomyomatosis

OMIM
CTD
ClinVar

PMID:5279523 PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 More...

NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674

G

TSC complex subunit 2

DNA:loss of heterozygosity
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lymphangioleiomyomatosis | ClinVar Annotator: match by term: Lymphangioleiomyomatosis, somatic | ClinVar Annotator: match by term: Lymphangiomyomatosis

OMIM
CTD
ClinVar
RGD

PMID:5279523 PMID:8824881 PMID:9076719 PMID:9285776 PMID:9302281 More...

RGD:1580521, RGD:11568662

NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951

G

vascular endothelial growth factor D

CTD Direct Evidence: marker/mechanism

NCBI chr X:30,073,122...30,108,413
Ensembl chr X:30,074,163...30,108,295

Term paths to the root

Path 1
Term	Annotations
disease	21128
syndrome	10833
primary immunodeficiency disease	4146
lymphoproliferative syndrome	1053
Lymphangiomyoma	21
lymphangioleiomyomatosis	21
Path 2
Term	Annotations
disease	21128
disease of cellular proliferation	7667
cancer	5483
organ system cancer	5237
cardiovascular cancer	56
vascular cancer	53
perivascular tumor	33
perivascular epithelioid cell tumor	25
lymphangioleiomyomatosis	21

paths to the root