AIS6
MCID: ATM059
MIFTS: 18

Autoimmune Disease 6 (AIS6)

Categories: Genetic diseases

Aliases & Classifications for Autoimmune Disease 6

MalaCards integrated aliases for Autoimmune Disease 6:

Name: Autoimmune Disease 6 57 72 29 6
Autoimmune Disease, Susceptibility to, 6 57 13
Ais6 57 72
Autoimmune Disease, Susceptibility to, Type 6 39
Autoimmune Disease Susceptibility 6 72

Classifications:



External Ids:

OMIM® 57 613551
MeSH 44 D001327
MedGen 41 C3150797

Summaries for Autoimmune Disease 6

UniProtKB/Swiss-Prot : 72 Autoimmune disease 6: Individuals manifesting susceptibility to autoimmune disease type 6 can suffer from juvenile idiopathic arthritis, rheumatoid arthritis, multiple sclerosis, Sjogren syndrome, systemic lupus erythematosus, type 1 diabetes, ulcerative colitis, and Crohn disease.

MalaCards based summary : Autoimmune Disease 6, also known as autoimmune disease, susceptibility to, 6, is related to vitiligo-associated multiple autoimmune disease susceptibility 6 and autoimmune disease. An important gene associated with Autoimmune Disease 6 is SIAE (Sialic Acid Acetylesterase).

More information from OMIM: 613551

Related Diseases for Autoimmune Disease 6

Diseases related to Autoimmune Disease 6 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 vitiligo-associated multiple autoimmune disease susceptibility 6 11.4
2 autoimmune disease 9.8
3 purpura 9.8

Symptoms & Phenotypes for Autoimmune Disease 6

Clinical features from OMIM®:

613551 (Updated 05-Apr-2021)

Drugs & Therapeutics for Autoimmune Disease 6

Search Clinical Trials , NIH Clinical Center for Autoimmune Disease 6

Genetic Tests for Autoimmune Disease 6

Genetic tests related to Autoimmune Disease 6:

# Genetic test Affiliating Genes
1 Autoimmune Disease 6 29 SIAE

Anatomical Context for Autoimmune Disease 6

Publications for Autoimmune Disease 6

Articles related to Autoimmune Disease 6:

# Title Authors PMID Year
1
Functionally defective germline variants of sialic acid acetylesterase in autoimmunity. 57 6
20555325 2010
2
[II. Autoimmune disease: 6. Henoch-Schönlein purpura nephritis]. 61
21702143 2011
3
TMJ Concepts/Techmedica custom-made TMJ total joint prosthesis: 5-year follow-up study. 61
12767873 2003
4
Car size and injury risk: a model for injury risk in frontal collisions. 61
11789579 2002
5
Preventable prehospital trauma deaths in a Hellenic urban health region: an audit of prehospital trauma care. 61
8913218 1996
6
Treatment effect of a traditional Chinese medicine, ren-shen-yang-rong-tang (Japanese name: ninjin-youei-to), on autoimmune MRL/MP-lpr/lpr mice. 61
8375941 1993

Variations for Autoimmune Disease 6

ClinVar genetic disease variations for Autoimmune Disease 6:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SIAE NM_170601.5(SIAE):c.935C>T (p.Thr312Met) SNV risk factor 1350 rs144510878 GRCh37: 11:124517292-124517292
GRCh38: 11:124647396-124647396
2 SIAE NM_170601.5(SIAE):c.1211T>C (p.Phe404Ser) SNV risk factor 1353 rs201877149 GRCh37: 11:124508547-124508547
GRCh38: 11:124638651-124638651
3 SIAE NM_170601.5(SIAE):c.587G>T (p.Cys196Phe) SNV risk factor 1351 rs143070599 GRCh37: 11:124519650-124519650
GRCh38: 11:124649754-124649754
4 SIAE NM_170601.5(SIAE):c.265A>G (p.Met89Val) SNV risk factor 1352 rs78778622 GRCh37: 11:124530664-124530664
GRCh38: 11:124660768-124660768

UniProtKB/Swiss-Prot genetic disease variations for Autoimmune Disease 6:

72
# Symbol AA change Variation ID SNP ID
1 SIAE p.Cys196Phe VAR_064444 rs143070599
2 SIAE p.Gly212Arg VAR_064445 rs149466359
3 SIAE p.Arg230Trp VAR_064446 rs200862001
4 SIAE p.Cys266Gly VAR_064447 rs746914032
5 SIAE p.Gln309Pro VAR_064448 rs757586703
6 SIAE p.Tyr349Cys VAR_064451 rs749579541
7 SIAE p.Arg393His VAR_064452 rs552372846
8 SIAE p.Phe404Ser VAR_064454 rs201877149
9 SIAE p.Arg479Cys VAR_064458 rs376857712

Expression for Autoimmune Disease 6

Search GEO for disease gene expression data for Autoimmune Disease 6.

Pathways for Autoimmune Disease 6

GO Terms for Autoimmune Disease 6

Sources for Autoimmune Disease 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....