AIS6
MCID: ATM059
MIFTS: 13

Autoimmune Disease 6 (AIS6)

Categories: Genetic diseases

Aliases & Classifications for Autoimmune Disease 6

MalaCards integrated aliases for Autoimmune Disease 6:

Name: Autoimmune Disease 6 58 76 30 6
Autoimmune Disease, Susceptibility to, 6 58 13
Ais6 58 76
Autoimmune Disease, Susceptibility to, Type 6 41
Autoimmune Disease Susceptibility 6 76

Classifications:



External Ids:

OMIM 58 613551
MeSH 45 D001327
MedGen 43 C3150797

Summaries for Autoimmune Disease 6

UniProtKB/Swiss-Prot : 76 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. An important gene associated with Autoimmune Disease 6 is SIAE (Sialic Acid Acetylesterase).

Description 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 12.3

Symptoms & Phenotypes for Autoimmune Disease 6

Clinical features from OMIM:

613551

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 30 SIAE

Anatomical Context for Autoimmune Disease 6

Publications for Autoimmune Disease 6

Variations for Autoimmune Disease 6

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

76
# 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

ClinVar genetic disease variations for Autoimmune Disease 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SIAE NM_001199922.1(SIAE): c.830C> T (p.Thr277Met) single nucleotide variant risk factor rs144510878 GRCh37 Chromosome 11, 124517292: 124517292
2 SIAE NM_001199922.1(SIAE): c.830C> T (p.Thr277Met) single nucleotide variant risk factor rs144510878 GRCh38 Chromosome 11, 124647396: 124647396
3 SIAE NM_001199922.1(SIAE): c.482G> T (p.Cys161Phe) single nucleotide variant risk factor rs143070599 GRCh37 Chromosome 11, 124519650: 124519650
4 SIAE NM_001199922.1(SIAE): c.482G> T (p.Cys161Phe) single nucleotide variant risk factor rs143070599 GRCh38 Chromosome 11, 124649754: 124649754
5 SIAE NM_001199922.1(SIAE): c.160A> G (p.Met54Val) single nucleotide variant risk factor rs78778622 GRCh37 Chromosome 11, 124530664: 124530664
6 SIAE NM_001199922.1(SIAE): c.160A> G (p.Met54Val) single nucleotide variant risk factor rs78778622 GRCh38 Chromosome 11, 124660768: 124660768
7 SIAE NM_170601.4(SIAE): c.1211T> C (p.Phe404Ser) single nucleotide variant risk factor rs201877149 GRCh37 Chromosome 11, 124508547: 124508547
8 SIAE NM_170601.4(SIAE): c.1211T> C (p.Phe404Ser) single nucleotide variant risk factor rs201877149 GRCh38 Chromosome 11, 124638651: 124638651

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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