Phenotype: Oral ulcer (HP:0000155)
Associated genes and diseases:
gene_symbol: DNAJC21
disease_id: OMIM:617052
disease_name: BONE MARROW FAILURE SYNDROME 3
gene_symbol: DNAJC21
disease_id: ORPHA:811
disease_name: Shwachman-Diamond syndrome
Pancreatic insufficiency and bone marrow dysfunction
SDS
Shwachman syndrome
Shwachman-Bodian-Diamond syndrome
gene_symbol: MVK
disease_id: OMIM:260920
disease_name: HYPER-IgD SYNDROME
gene_symbol: STAT4
disease_id: ORPHA:93552
disease_name: Pediatric systemic lupus erythematosus
SLE, pediatric onset
gene_symbol: STAT4
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: STAT4
disease_id: OMIM:620443
disease_name: DISABLING PANSCLEROTIC MORPHEA OF CHILDHOOD
gene_symbol: STAT4
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: SPP1
disease_id: ORPHA:93552
disease_name: Pediatric systemic lupus erythematosus
SLE, pediatric onset
gene_symbol: SPP1
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: SAT1
disease_id: ORPHA:93552
disease_name: Pediatric systemic lupus erythematosus
SLE, pediatric onset
gene_symbol: IRAK1
disease_id: ORPHA:93552
disease_name: Pediatric systemic lupus erythematosus
SLE, pediatric onset
gene_symbol: IRAK1
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: IL7R
disease_id: OMIM:608971
disease_name: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE
gene_symbol: IL7R
disease_id: ORPHA:169154
disease_name: T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
T-B+ SCID due to IL-7Ralpha deficiency
gene_symbol: CD40LG
disease_id: OMIM:308230
disease_name: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1
gene_symbol: SLC37A4
disease_id: OMIM:232220
disease_name: GLYCOGEN STORAGE DISEASE Ib
gene_symbol: SLC37A4
disease_id: ORPHA:79259
disease_name: Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
G6P deficiency type Ib
G6P translocase deficiency
G6PT deficiency
GSD due to G6P deficiency type 1b
GSD due to G6P deficiency type Ib
GSD due to G6PT deficiency
GSD type 1 non a
GSD type 1b
GSD type Ib
GSDIb
Glycogen storage disease due to G6P deficiency type Ib
Glycogen storage disease type 1b
Glycogen storage disease type Ib
Glycogenosis due to glucose-6-phosphatase deficiency type 1b
Glycogenosis due to glucose-6-phosphatase transport defect type Ib
Glycogenosis type 1b
Glycogenosis type Ib
gene_symbol: TLR7
disease_id: OMIM:301080
disease_name: SYSTEMIC LUPUS ERYTHEMATOSUS 17
gene_symbol: TLR7
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: MAP2K1
disease_id: ORPHA:389
disease_name: Langerhans cell histiocytosis
Histiocytosis X
Langerhans cell granulomatosis
gene_symbol: NRAS
disease_id: ORPHA:389
disease_name: Langerhans cell histiocytosis
Histiocytosis X
Langerhans cell granulomatosis
gene_symbol: BRAF
disease_id: ORPHA:389
disease_name: Langerhans cell histiocytosis
Histiocytosis X
Langerhans cell granulomatosis
gene_symbol: CD27
disease_id: OMIM:615122
disease_name: LYMPHOPROLIFERATIVE SYNDROME 2
gene_symbol: ADA2
disease_id: OMIM:615688
disease_name: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
gene_symbol: IL10RA
disease_id: OMIM:613148
disease_name: INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE
gene_symbol: ELANE
disease_id: OMIM:162800
disease_name: CYCLIC NEUTROPENIA
gene_symbol: ELANE
disease_id: ORPHA:2686
disease_name: Cyclic neutropenia
gene_symbol: ELANE
disease_id: ORPHA:486
disease_name: Autosomal dominant severe congenital neutropenia
gene_symbol: EFL1
disease_id: ORPHA:811
disease_name: Shwachman-Diamond syndrome
Pancreatic insufficiency and bone marrow dysfunction
SDS
Shwachman syndrome
Shwachman-Bodian-Diamond syndrome
gene_symbol: SBDS
disease_id: ORPHA:811
disease_name: Shwachman-Diamond syndrome
Pancreatic insufficiency and bone marrow dysfunction
SDS
Shwachman syndrome
Shwachman-Bodian-Diamond syndrome
gene_symbol: FCGR3B
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: ITGAM
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: IL10
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: IL10
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: JAZF1
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: TREX1
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: TNFSF4
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: BLK
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: C4A
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: C4A
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: BANK1
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: IGHG1
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: CTLA4
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: PTPN22
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: CR2
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: PDCD1
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: ETS1
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: FCGR2B
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: TNIP1
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: UBE2L3
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: KIAA0319L
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: MECP2
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: IRF5
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: HLA-DRB1
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: C4B
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: DNASE1
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: PXK
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: TNFAIP3
disease_id: ORPHA:536
disease_name: Systemic lupus erythematosus
Disseminated lupus erythematosus
SLE
gene_symbol: TNFAIP3
disease_id: OMIM:616744
disease_name: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE
gene_symbol: DOCK11
disease_id: OMIM:301109
disease_name: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED
gene_symbol: RELA
disease_id: OMIM:618287
disease_name: MUCOCUTANEOUS ULCERATION, CHRONIC
gene_symbol: G6PC3
disease_id: OMIM:612541
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE
gene_symbol: CAT
disease_id: ORPHA:926
disease_name: Acatalasemia
Catalase deficiency
gene_symbol: CAT
disease_id: OMIM:614097
disease_name: ACATALASEMIA
gene_symbol: C1QB
disease_id: OMIM:620321
disease_name: C1q DEFICIENCY 2
gene_symbol: DCLRE1C
disease_id: OMIM:602450
disease_name: SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION
gene_symbol: TCIRG1
disease_id: ORPHA:486
disease_name: Autosomal dominant severe congenital neutropenia
gene_symbol: SRP19
disease_id: ORPHA:486
disease_name: Autosomal dominant severe congenital neutropenia
gene_symbol: GFI1
disease_id: ORPHA:486
disease_name: Autosomal dominant severe congenital neutropenia
gene_symbol: CLPB
disease_id: ORPHA:486
disease_name: Autosomal dominant severe congenital neutropenia
gene_symbol: SYK
disease_id: OMIM:619381
disease_name: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION
gene_symbol: ELF4
disease_id: OMIM:301074
disease_name: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2
gene_symbol: RIPK1
disease_id: OMIM:618852
disease_name: AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY
gene_symbol: NOD2
disease_id: OMIM:617321
disease_name: YAO SYNDROME
gene_symbol: CYBC1
disease_id: OMIM:618935
disease_name: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5
gene_symbol: SLC46A1
disease_id: OMIM:229050
disease_name: FOLATE MALABSORPTION, HEREDITARY
gene_symbol: LYN
disease_id: OMIM:620376
disease_name: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS
gene_symbol: IL23R
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: MEFV
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: CCR1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: FAS
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: IL12A
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: IL12A-AS1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: HLA-B
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: TLR4
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: IFNGR1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: UBAC2
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: ERAP1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: KLRC4
disease_id: ORPHA:117
disease_name: Behçet disease