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: limited scleroderma
Accession: DOID:1577
browse the term
Definition: The least progressive form of SYSTEMIC SCLERODERMA with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The CREST SYNDROME is a form of limited scleroderma.
Synonyms: exact_synonym: limited cutaneous systemic sclerosis; limited systemic scleroderma; limited systemic sclerodermas; limited systemic sclerosis
primary_id: MESH:D045745
xref: EFO:1001017
For additional species annotation, visit the
Alliance of Genome Resources .
G
CAV1
caveolin 1
susceptibility no_association
ISO
DNA:SNPs:enhancer, intron:multiple DNA:SNPs:3' utr, intron: (rs9920, rs729949, rs3815412) (human)
RGD
PMID:22402147
RGD:8661768
NCBI chr14:55,458,934...55,494,563
Ensembl chr14:55,461,048...55,492,935
G
CCL2
C-C motif chemokine ligand 2
ISO
RGD
PMID:12925209
RGD:8661733
NCBI chr 9:39,008,187...39,009,932
G
CCR2
C-C motif chemokine receptor 2
ISO
mRNA,protein:increased expression:skin:
RGD
PMID:12925209
RGD:8661733
NCBI chr20:42,305,344...42,313,258
Ensembl chr20:42,307,580...42,308,698
G
FAS
Fas cell surface death receptor
ISO
RGD
PMID:17102953
RGD:12903974
NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
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FASLG
Fas ligand
ISO
RGD
PMID:17102953
RGD:12903974
NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224
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IL2
interleukin 2
susceptibility
ISO
DNA:polymorphism::-384T>G(human)
RGD
PMID:17444587
RGD:4142872
NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
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JAK2
Janus kinase 2
ISO
RGD
PMID:20808962
RGD:4892610
NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997
G
KDR
kinase insert domain receptor
ISO
protein:increased expression:serum:
RGD
PMID:19886888
RGD:8551850
NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042
G
PGF
placental growth factor
ISO
protein:increased expression:plasma
RGD
PMID:22461185
RGD:6483571
NCBI chr 8:48,059,554...48,110,534
Ensembl chr 8:48,059,552...48,075,170
G
SERPINE1
serpin family E member 1
ISO
mRNA,protein:increased expression:skin:
RGD
PMID:15730388
RGD:13208597
NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301
G
STAT4
signal transducer and activator of transcription 4
no_association susceptibility
ISO
DNA:SNPs:introns: (rs10168266, rs3821236) (human) DNA:SNP:intron: (rs7574865) (human)
RGD
PMID:19286670 PMID:23755762
RGD:8661701 RGD:8661714
NCBI chr37:1,566,563...1,685,378
Ensembl chr37:1,566,585...1,829,894
G
TAP2
transporter 2, ATP binding cassette subfamily B member
susceptibility
ISO
RGD
PMID:16112028
RGD:1578361
NCBI chr12:2,407,512...2,417,469
Ensembl chr12:2,378,126...2,432,303
G
CENPC
centromere protein C
ISO
associated with Anticentromere antibody positivity
RGD
PMID:25220385
RGD:27372886
NCBI chr13:58,013,218...58,091,347
Ensembl chr13:58,013,212...58,231,200
G
FBN1
fibrillin 1
ISO
RGD
PMID:10395706
RGD:12910471
NCBI chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151
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