In the knowledge base ยท computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
Acquired Epidermolysis Bullosa susceptibility
mechanism: HLA-Associated Susceptibility to COL7 Autoimmunity
Adult-Onset Myasthenia Gravis susceptibility
Alopecia Areata susceptibility germline
mechanism: Follicular Antigen and NKG2D-Ligand Display; Loss of Hair Follicle Immune Privilege
Anti-Glomerular Basement Membrane Disease risk factor
mechanism: HLA-restricted loss of tolerance and anti-GBM IgG production
Antisynthetase Syndrome susceptibility
mechanism: Loss of Tolerance to Aminoacyl-tRNA Synthetases
Autoimmune Hepatitis risk factor germline
mechanism: Polygenic HLA-linked susceptibility
Autoimmune Pancreatitis susceptibility
scoped to subtype: Type 1
Autoimmune Polyendocrinopathy risk factor germline
mechanism: Polygenic HLA and Immune-Regulatory Susceptibility
scoped to subtype: Type 2
Autoimmune Pulmonary Alveolar Proteinosis susceptibility germline
mechanism: Loss of Immune Tolerance to GM-CSF
Eosinophilia-Myalgia Syndrome risk factor
Genital Lichen Sclerosus susceptibility
scoped to subtype: Vulvar Lichen Sclerosus
IgG4-Related Disease risk factor
Inclusion Body Myositis susceptibility
Minimal Change Disease susceptibility
Mucous Membrane Pemphigoid susceptibility
Neurosarcoidosis modifier germline
Paraneoplastic Cerebellar Degeneration susceptibility
Pemphigus Foliaceus susceptibility
mechanism: HLA-DRB1-Restricted Susceptibility
Polymyalgia Rheumatica modifier
Primary Biliary Cholangitis susceptibility
Primary Sclerosing Cholangitis susceptibility
Relapsing Polychondritis risk factor germline
Rheumatic Heart Disease susceptibility germline
Rosacea susceptibility
Toxic Oil Syndrome modifier
Toxic Shock Syndrome susceptibility
Vogt-Koyanagi-Harada Disease risk factor germline
mechanism: HLA-DRB1-Restricted Melanocyte Antigen Recognition
Giant Cell Arteritis untyped
Risk Factor
Graves' Disease untyped
Risk Factor
Juvenile Idiopathic Arthritis untyped
Susceptibility
Multiple Sclerosis untyped
Risk Factor
mechanism: Th1/Th17-Mediated Neuroinflammation
Rheumatoid Arthritis untyped
Associated with increased risk
mechanism: Autoimmune Response
Sarcoidosis untyped
Susceptibility
Systemic Sclerosis untyped
Risk Factor
Ulcerative Colitis untyped
Risk Factor
mechanism: Dysregulated Immune Response
Vitiligo untyped
Associated
Addison's Disease no genetic record
mechanism: Polygenic Susceptibility
Podoconiosis no genetic record
mechanism: HLA Class II-Restricted CD4 T-Cell Response

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.