CHBL1
MCID: CHL140
MIFTS: 53

Chilblain Lupus 1 (CHBL1)

Categories: Bone diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Chilblain Lupus 1

MalaCards integrated aliases for Chilblain Lupus 1:

Name: Chilblain Lupus 1 57 75 29 6 44 73
Chilblain Lupus 57 12 59 13 6 15 40
Chilblain Lupus Erythematosus 75 29 6
Chbl1 57 75
Lupus Erythematosus, Cutaneous 44
Hutchinson Lupus 75
Chle 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in early childhood
environmental triggers - cold and wet exposure
allelic to aicardi-goutieres syndrome


HPO:

32
chilblain lupus 1:
Onset and clinical course juvenile onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 610448
Disease Ontology 12 DOID:0060386
SNOMED-CT 68 11361009 72470008
Orphanet 59 ORPHA90280
UMLS via Orphanet 74 C0024145
ICD10 via Orphanet 34 L93.2
MESH via Orphanet 45 C535924
UMLS 73 C0024145

Summaries for Chilblain Lupus 1

OMIM : 57 Chilblain lupus is a cutaneous form of systemic lupus erythematosus (SLE; 152700) characterized by the appearance of painful bluish-red papular or nodular lesions of the skin in acral locations (including the dorsal aspects of fingers and toes, heels, nose, cheeks, ears, and, in some cases, knees) precipitated by cold and wet exposure (summary by Lee-Kirsch et al., 2006). (610448)

MalaCards based summary : Chilblain Lupus 1, also known as chilblain lupus, is related to familial chilblain lupus and cutaneous lupus erythematosus. An important gene associated with Chilblain Lupus 1 is TREX1 (Three Prime Repair Exonuclease 1), and among its related pathways/superpathways are Innate Immune System and Cytokine Signaling in Immune system. Affiliated tissues include skin, bone and t cells, and related phenotypes are arthralgia and abnormality of the nail

UniProtKB/Swiss-Prot : 75 Chilblain lupus 1: A rare cutaneous form of lupus erythematosus. Affected individuals present with painful bluish-red papular or nodular lesions of the skin in acral locations precipitated by cold and wet exposure at temperatures less than 10 degrees centigrade.

Related Diseases for Chilblain Lupus 1

Graphical network of the top 20 diseases related to Chilblain Lupus 1:



Diseases related to Chilblain Lupus 1

Symptoms & Phenotypes for Chilblain Lupus 1

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
no raynaud phenomenon

Skin Nails Hair Skin:
painful bluish-red papules or nodules (fingers, toes, nose, cheek, ears)
cutaneous ulcers
healed areas are atrophic and hypopigmented
no cutaneous photosensitivity

Skin Nails Hair Nails:
subungual lesions (in some patients)

Skeletal:
arthralgias (knees and shoulders)

Skin Nails Hair Skin Histology:
deep inflammatory perivascular infiltrate with granular deposits of immunoglobulins and complement along basement membrane

Immunology:
antinuclear antibody present (in some patients)


Clinical features from OMIM:

610448

Human phenotypes related to Chilblain Lupus 1:

32
# Description HPO Frequency HPO Source Accession
1 arthralgia 32 HP:0002829
2 abnormality of the nail 32 occasional (7.5%) HP:0001597
3 skin ulcer 32 HP:0200042
4 antinuclear antibody positivity 32 occasional (7.5%) HP:0003493

MGI Mouse Phenotypes related to Chilblain Lupus 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.93 CGAS EXO1 GZMA IFIH1 IFNB1 IL3RA
2 immune system MP:0005387 9.77 CGAS EXO1 GZMA IFIH1 IFNB1 IL3RA
3 mortality/aging MP:0010768 9.4 CGAS EXO1 GZMA IFIH1 JAK1 NDUFS7

Drugs & Therapeutics for Chilblain Lupus 1

Search Clinical Trials , NIH Clinical Center for Chilblain Lupus 1

Cochrane evidence based reviews: lupus erythematosus, cutaneous

Genetic Tests for Chilblain Lupus 1

Genetic tests related to Chilblain Lupus 1:

# Genetic test Affiliating Genes
1 Chilblain Lupus 1 29 TREX1
2 Chilblain Lupus Erythematosus 29

Anatomical Context for Chilblain Lupus 1

MalaCards organs/tissues related to Chilblain Lupus 1:

41
Skin, Bone, T Cells, Heart

Publications for Chilblain Lupus 1

Articles related to Chilblain Lupus 1:

(show top 50) (show all 52)
# Title Authors Year
1
Aicardi-GoutiA"res syndrome: cold-induced acral blemish is not always cryoglobulinaemic vasculitis or chilblain lupus. ( 29341198 )
2018
2
Chilblain lupus erythematosus presenting with bilateral hemorrhagic bullae of distal halluces. ( 30063789 )
2018
3
Efficacy of JAK1/2 inhibition in the treatment of chilblain lupus due to TREX1 deficiency. ( 30282666 )
2018
4
Comparative Analysis of Chilblain Lupus Erythematosus and Idiopathic Perniosis: Histopathologic Features and Immunohistochemistry for CD123 and CD30. ( 28719438 )
2017
5
Familial Chilblain Lupus - What Can We Learn from Type I Interferonopathies? ( 28844088 )
2017
6
A case of chilblain lupus erythematosus with lupus erythematosus/lichen planus overlap syndrome. ( 28322475 )
2017
7
Chilblain lupus and steroid-responsive pancytopenia precede monosomy 7-linked AML as manifestation of rasopathy. ( 28802089 )
2017
8
[Familial chilblain lupus : Type 1 interferonopathy with model character]. ( 28389709 )
2017
9
Chilblain lupus erythematosus treated successfully with mycophenolate mofetil. ( 28345755 )
2017
10
Familial chilblain lupus due to a gain-of-function mutation in STING. ( 27566796 )
2016
11
JAK1/2 Inhibitor Ruxolitinib Controls a Case of Chilblain Lupus Erythematosus. ( 26916391 )
2016
12
Familial Chilblain Lupus Due to a Novel Mutation in the Exonuclease III Domain of 3' Repair Exonuclease 1 (TREX1). ( 25517357 )
2015
13
Chilblain lupus erythematosus in an adolescent girl. ( 25506560 )
2014
14
Chilblain lupus erythematosus in a patient affected by Hodgkin lymphoma. ( 23373885 )
2013
15
Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus. ( 22829693 )
2013
16
A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus. ( 23989343 )
2013
17
Docetaxel-induced relapse of subacute cutaneous lupus erythematosus and chilblain lupus. ( 23848065 )
2013
18
Systemic involvement in TREX1-associated familial chilblain lupus. ( 24034389 )
2013
19
Deregulated Type I IFN Response in TREX1-Associated Familial Chilblain Lupus. ( 24270665 )
2013
20
Chilblain lupus erythematosus. ( 24285807 )
2013
21
Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-GoutiA"res syndrome. ( 22356656 )
2012
22
Severe chilblain lupus is associated with heterozygous missense mutations of catalytic amino acids or their adjacent mutations in the exonuclease domains of 3'-repair exonuclease 1. ( 22718116 )
2012
23
Chilblain lupus induced by TNF-I+ antagonists: a case report and literature review. ( 22207249 )
2012
24
Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus. ( 21204240 )
2011
25
Blue (or purple) toes: chilblains or chilblain lupus-like lesions are a manifestation of Aicardi-GoutiA"res syndrome and familial chilblain lupus. ( 19751886 )
2009
26
Lupus pernio or chilblain lupus?: two different entities. ( 19736207 )
2009
27
Familial chilblain lupus--a monogenic form of cutaneous lupus erythematosus due to a heterozygous mutation in TREX1. ( 19478477 )
2009
28
Chilblain lupus erythematosus--a review of literature. ( 18543054 )
2008
29
Cutaneous histopathological findings of Aicardi-GoutiA"res syndrome, overlap with chilblain lupus. ( 18422690 )
2008
30
Chilblain lupus erythematosus-a review of literature. ( 19125230 )
2008
31
A mutation in TREX1 that impairs susceptibility to granzyme A- mediated cell death underlies familial chilblain lupus. ( 17440703 )
2007
32
Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. ( 17357087 )
2007
33
Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p. ( 16960810 )
2006
34
Infliximab induced chilblain lupus in a patient with rheumatoid arthritis. ( 15801042 )
2005
35
Chilblain lupus erythematosus mimicking acrofacial vitiligo. ( 17642933 )
2003
36
Chilblain lupus erythematosus lesions precipitated by the cold. ( 11926337 )
2002
37
Verrucous form of chilblain lupus erythematosus. ( 11763388 )
2001
38
Chilblain lupus erythematosus Hutchinson: successful treatment with mycophenolate mofetil. ( 11176709 )
2001
39
Lethal pancytopenia associated with chilblain lupus erythematosus. ( 11200851 )
2000
40
Chilblain lupus erythematosus is associated with antibodies to SSA/Ro. ( 10342714 )
1999
41
Chilblain lupus erythematosus is associated with antibodies to SSA/Ro. ( 10599339 )
1999
42
Chilblain lupus erythematosus of Hutchinson responding to surgical treatment: a report of two patients with anti-Ro/SS-A antibodies. ( 8731683 )
1996
43
Violaceous rash of dorsal fingers in a woman. Diagnosis: chilblain lupus erythematosus (perniosis). ( 8629851 )
1996
44
Chilblain lupus erythematosus (lupus pernio): clinical review of the Mayo Clinic experience and proposal of diagnostic criteria. ( 7867381 )
1994
45
Pregnancy-induced chilblain lupus erythematosus. ( 8252769 )
1993
46
Chilblain lupus erythematosus and lupus pernio--the same entity? ( 1421633 )
1992
47
Chilblain lupus erythematosus: report of 15 cases. ( 1558991 )
1992
48
Chilblain lupus erythematosus and antiphospholipid antibody syndrome. ( 3142940 )
1988
49
Chilblain lupus erythematosus with response to chemical sympathectomy. ( 465337 )
1979
50
Chilblain lupus erythematosus (Hutchinson). A clinical and laboratory study of 17 patients. ( 656324 )
1978

Variations for Chilblain Lupus 1

UniProtKB/Swiss-Prot genetic disease variations for Chilblain Lupus 1:

75
# Symbol AA change Variation ID SNP ID
1 TREX1 p.Asp18Asn VAR_037948 rs121908117

ClinVar genetic disease variations for Chilblain Lupus 1:

6 (show top 50) (show all 99)
# Gene Variation Type Significance SNP ID Assembly Location
1 TREX1 NM_033629.5(TREX1): c.341G> A (p.Arg114His) single nucleotide variant risk factor rs72556554 GRCh37 Chromosome 3, 48508395: 48508395
2 TREX1 NM_033629.5(TREX1): c.341G> A (p.Arg114His) single nucleotide variant risk factor rs72556554 GRCh38 Chromosome 3, 48466996: 48466996
3 TREX1 TREX1, 1-BP DUP, 375T duplication Pathogenic
4 TREX1 NM_033629.4(TREX1): c.52G> A (p.Asp18Asn) single nucleotide variant Pathogenic rs121908117 GRCh37 Chromosome 3, 48508106: 48508106
5 TREX1 NM_033629.4(TREX1): c.52G> A (p.Asp18Asn) single nucleotide variant Pathogenic rs121908117 GRCh38 Chromosome 3, 48466707: 48466707
6 SAMHD1 NM_015474.3(SAMHD1): c.602T> A (p.Ile201Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs138603088 GRCh37 Chromosome 20, 35559186: 35559186
7 SAMHD1 NM_015474.3(SAMHD1): c.602T> A (p.Ile201Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs138603088 GRCh38 Chromosome 20, 36930783: 36930783
8 TREX1 NM_033629.5(TREX1): c.797A> G (p.Glu266Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs55999987 GRCh37 Chromosome 3, 48508851: 48508851
9 TREX1 NM_033629.5(TREX1): c.797A> G (p.Glu266Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs55999987 GRCh38 Chromosome 3, 48467452: 48467452
10 TREX1 NM_033629.4(TREX1): c.907A> C (p.Thr303Pro) single nucleotide variant Uncertain significance rs76224909 GRCh37 Chromosome 3, 48508961: 48508961
11 TREX1 NM_033629.4(TREX1): c.907A> C (p.Thr303Pro) single nucleotide variant Uncertain significance rs76224909 GRCh38 Chromosome 3, 48467562: 48467562
12 TREX1 NM_033629.4(TREX1): c.912G> A (p.Leu304=) single nucleotide variant Benign rs3135945 GRCh38 Chromosome 3, 48467567: 48467567
13 TREX1 NM_033629.4(TREX1): c.912G> A (p.Leu304=) single nucleotide variant Benign rs3135945 GRCh37 Chromosome 3, 48508966: 48508966
14 TREX1 NM_033629.4(TREX1): c.198G> A (p.Lys66=) single nucleotide variant Benign/Likely benign rs3135943 GRCh38 Chromosome 3, 48466853: 48466853
15 TREX1 NM_033629.4(TREX1): c.198G> A (p.Lys66=) single nucleotide variant Benign/Likely benign rs3135943 GRCh37 Chromosome 3, 48508252: 48508252
16 TREX1 NM_033629.5(TREX1): c.183G> A (p.Pro61=) single nucleotide variant Likely benign rs55852466 GRCh38 Chromosome 3, 48466838: 48466838
17 TREX1 NM_033629.5(TREX1): c.183G> A (p.Pro61=) single nucleotide variant Likely benign rs55852466 GRCh37 Chromosome 3, 48508237: 48508237
18 TREX1 NM_033629.4(TREX1): c.462T> C (p.Asp154=) single nucleotide variant Benign/Likely benign rs3135944 GRCh38 Chromosome 3, 48467117: 48467117
19 TREX1 NM_033629.4(TREX1): c.462T> C (p.Asp154=) single nucleotide variant Benign/Likely benign rs3135944 GRCh37 Chromosome 3, 48508516: 48508516
20 SAMHD1 NM_015474.3(SAMHD1): c.*1008C> G single nucleotide variant Likely benign rs116489517 GRCh38 Chromosome 20, 36891924: 36891924
21 SAMHD1 NM_015474.3(SAMHD1): c.*1008C> G single nucleotide variant Likely benign rs116489517 GRCh37 Chromosome 20, 35520327: 35520327
22 SAMHD1 NM_015474.3(SAMHD1): c.*711A> C single nucleotide variant Uncertain significance rs886056644 GRCh38 Chromosome 20, 36892221: 36892221
23 SAMHD1 NM_015474.3(SAMHD1): c.*711A> C single nucleotide variant Uncertain significance rs886056644 GRCh37 Chromosome 20, 35520624: 35520624
24 SAMHD1 NM_015474.3(SAMHD1): c.*240G> A single nucleotide variant Uncertain significance rs143588093 GRCh38 Chromosome 20, 36892692: 36892692
25 SAMHD1 NM_015474.3(SAMHD1): c.*240G> A single nucleotide variant Uncertain significance rs143588093 GRCh37 Chromosome 20, 35521095: 35521095
26 SAMHD1 NM_015474.3(SAMHD1): c.*95T> C single nucleotide variant Likely benign rs147220022 GRCh38 Chromosome 20, 36892837: 36892837
27 SAMHD1 NM_015474.3(SAMHD1): c.*95T> C single nucleotide variant Likely benign rs147220022 GRCh37 Chromosome 20, 35521240: 35521240
28 SAMHD1 NM_015474.3(SAMHD1): c.1037A> C (p.Glu346Ala) single nucleotide variant Uncertain significance rs886056648 GRCh37 Chromosome 20, 35545150: 35545150
29 SAMHD1 NM_015474.3(SAMHD1): c.1037A> C (p.Glu346Ala) single nucleotide variant Uncertain significance rs886056648 GRCh38 Chromosome 20, 36916747: 36916747
30 SAMHD1 NM_015474.3(SAMHD1): c.77C> T (p.Pro26Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs147240777 GRCh37 Chromosome 20, 35579970: 35579970
31 SAMHD1 NM_015474.3(SAMHD1): c.77C> T (p.Pro26Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs147240777 GRCh38 Chromosome 20, 36951567: 36951567
32 SAMHD1 NM_015474.3(SAMHD1): c.67T> A (p.Ser23Thr) single nucleotide variant Uncertain significance rs886056649 GRCh37 Chromosome 20, 35579980: 35579980
33 SAMHD1 NM_015474.3(SAMHD1): c.67T> A (p.Ser23Thr) single nucleotide variant Uncertain significance rs886056649 GRCh38 Chromosome 20, 36951577: 36951577
34 SAMHD1 NM_015474.3(SAMHD1): c.-39C> A single nucleotide variant Likely benign rs368233437 GRCh37 Chromosome 20, 35580085: 35580085
35 SAMHD1 NM_015474.3(SAMHD1): c.-39C> A single nucleotide variant Likely benign rs368233437 GRCh38 Chromosome 20, 36951682: 36951682
36 SAMHD1 NM_015474.3(SAMHD1): c.-110T> C single nucleotide variant Likely benign rs28372906 GRCh37 Chromosome 20, 35580156: 35580156
37 SAMHD1 NM_015474.3(SAMHD1): c.-110T> C single nucleotide variant Likely benign rs28372906 GRCh38 Chromosome 20, 36951753: 36951753
38 SAMHD1 NM_015474.3(SAMHD1): c.*362G> A single nucleotide variant Uncertain significance rs886056646 GRCh38 Chromosome 20, 36892570: 36892570
39 SAMHD1 NM_015474.3(SAMHD1): c.*362G> A single nucleotide variant Uncertain significance rs886056646 GRCh37 Chromosome 20, 35520973: 35520973
40 SAMHD1 NM_015474.3(SAMHD1): c.1593G> C (p.Arg531Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs145735112 GRCh37 Chromosome 20, 35526858: 35526858
41 SAMHD1 NM_015474.3(SAMHD1): c.1593G> C (p.Arg531Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs145735112 GRCh38 Chromosome 20, 36898455: 36898455
42 SAMHD1 NM_015474.3(SAMHD1): c.-10A> G single nucleotide variant Uncertain significance rs199721283 GRCh37 Chromosome 20, 35580056: 35580056
43 SAMHD1 NM_015474.3(SAMHD1): c.-10A> G single nucleotide variant Uncertain significance rs199721283 GRCh38 Chromosome 20, 36951653: 36951653
44 SAMHD1 NM_015474.3(SAMHD1): c.-31T> C single nucleotide variant Likely benign rs142162198 GRCh37 Chromosome 20, 35580077: 35580077
45 SAMHD1 NM_015474.3(SAMHD1): c.-31T> C single nucleotide variant Likely benign rs142162198 GRCh38 Chromosome 20, 36951674: 36951674
46 SAMHD1 NM_015474.3(SAMHD1): c.*536C> T single nucleotide variant Uncertain significance rs886056645 GRCh38 Chromosome 20, 36892396: 36892396
47 SAMHD1 NM_015474.3(SAMHD1): c.*536C> T single nucleotide variant Uncertain significance rs886056645 GRCh37 Chromosome 20, 35520799: 35520799
48 SAMHD1 NM_015474.3(SAMHD1): c.*503A> G single nucleotide variant Uncertain significance rs757372495 GRCh38 Chromosome 20, 36892429: 36892429
49 SAMHD1 NM_015474.3(SAMHD1): c.*503A> G single nucleotide variant Uncertain significance rs757372495 GRCh37 Chromosome 20, 35520832: 35520832
50 SAMHD1 NM_015474.3(SAMHD1): c.*71C> A single nucleotide variant Likely benign rs138927042 GRCh38 Chromosome 20, 36892861: 36892861

Expression for Chilblain Lupus 1

Search GEO for disease gene expression data for Chilblain Lupus 1.

Pathways for Chilblain Lupus 1

Pathways related to Chilblain Lupus 1 according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.74 CGAS IFIH1 IFNB1 IL3RA JAK1 MX1
2
Show member pathways
12.97 IFNB1 IL3RA JAK1 MX1 SAMHD1 TNFRSF1B
3
Show member pathways
12.52 CGAS IFIH1 IFNB1 TMEM173 TREX1
4
Show member pathways
12.38 CGAS IFIH1 IFNB1 JAK1 SAMHD1 TMEM173
5
Show member pathways
12.21 IFNB1 JAK1 MX1 SAMHD1 TRIM21
6
Show member pathways
12.01 IFNB1 JAK1 MX1 SAMHD1
7 12 GZMA PIR TNFRSF1B TNFRSF25
8
Show member pathways
11.97 CGAS IFIH1 TMEM173 TREX1 TRIM21
9
Show member pathways
11.85 IL3RA JAK1 TNFRSF1B TNFRSF25
10 11.81 ACP5 IFNB1 JAK1
11 11.63 IFNB1 IL3RA JAK1
12 11.61 GZMA IFIH1 JAK1 PIR TNFRSF1B TNFRSF25
13 11.15 CXCL9 IFNB1 JAK1
14
Show member pathways
10.91 JAK1 MX1
15 10.68 ACP5 IFNB1

GO Terms for Chilblain Lupus 1

Biological processes related to Chilblain Lupus 1 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.91 GZMA MX1 TMEM173 TNFRSF1B TNFRSF25
2 immune system process GO:0002376 9.88 CGAS EXO1 IFIH1 MX1 SAMHD1 TMEM173
3 innate immune response GO:0045087 9.85 CGAS IFIH1 MX1 SAMHD1 TMEM173 TRIM21
4 cytokine-mediated signaling pathway GO:0019221 9.73 IFNB1 IL3RA JAK1 TNFRSF1B
5 defense response GO:0006952 9.72 CXCL9 IFNB1 MX1
6 response to virus GO:0009615 9.63 IFIH1 IFNB1 MX1
7 type I interferon signaling pathway GO:0060337 9.56 IFNB1 JAK1 MX1 SAMHD1
8 positive regulation of defense response to virus by host GO:0002230 9.54 CGAS TMEM173
9 activation of innate immune response GO:0002218 9.52 CGAS TMEM173
10 cellular response to interferon-beta GO:0035458 9.5 IFNB1 TMEM173 TREX1
11 positive regulation of cAMP-mediated signaling GO:0043950 9.49 CGAS CXCL9
12 somatic hypermutation of immunoglobulin genes GO:0016446 9.48 EXO1 SAMHD1
13 regulation of type I interferon production GO:0032479 9.33 TMEM173 TREX1 TRIM21
14 cellular response to exogenous dsRNA GO:0071360 9.26 CGAS IFIH1 IFNB1 TMEM173
15 defense response to virus GO:0051607 9.17 CGAS CXCL9 IFIH1 IFNB1 MX1 SAMHD1

Molecular functions related to Chilblain Lupus 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.65 ACP5 CGAS EXO1 IFIH1 JAK1 NDUFS7
2 GTP binding GO:0005525 9.56 CGAS MX1 RAB4A SAMHD1
3 double-stranded DNA binding GO:0003690 9.33 CGAS EXO1 TREX1
4 tumor necrosis factor-activated receptor activity GO:0005031 8.62 TNFRSF1B TNFRSF25

Sources for Chilblain Lupus 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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37 KEGG
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44 MeSH
45 MESH via Orphanet
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49 NCI
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51 NDF-RT
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55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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