Phenotype: Abscess (HP:0025615)
Associated genes and diseases:
gene_symbol: NCF2
disease_id: OMIM:233710
disease_name: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2
gene_symbol: VANGL1
disease_id: OMIM:600145
disease_name: SACRAL DEFECT WITH ANTERIOR MENINGOCELE
gene_symbol: IGHM
disease_id: OMIM:601495
disease_name: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE
gene_symbol: ITGB2
disease_id: OMIM:116920
disease_name: LEUKOCYTE ADHESION DEFICIENCY, TYPE I
gene_symbol: CYBB
disease_id: OMIM:306400
disease_name: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED
gene_symbol: PI4KA
disease_id: ORPHA:436252
disease_name: Combined immunodeficiency-enteropathy spectrum
CID-MIA/early-onset IBD
gene_symbol: TTC7A
disease_id: ORPHA:436252
disease_name: Combined immunodeficiency-enteropathy spectrum
CID-MIA/early-onset IBD
gene_symbol: NCF1
disease_id: OMIM:233700
disease_name: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1
gene_symbol: CYBA
disease_id: OMIM:233690
disease_name: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4
gene_symbol: RAC2
disease_id: OMIM:608203
disease_name: IMMUNODEFICIENCY 73A WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LEUKOCYTOSIS
gene_symbol: ELF4
disease_id: OMIM:301074
disease_name: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2
gene_symbol: TGFB1
disease_id: OMIM:618213
disease_name: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY
gene_symbol: G6PC3
disease_id: OMIM:612541
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE
gene_symbol: IL10RA
disease_id: OMIM:613148
disease_name: INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE
gene_symbol: IKZF3
disease_id: OMIM:619437
disease_name: IMMUNODEFICIENCY 84
gene_symbol: MAX
disease_id: OMIM:620712
disease_name: POLYDACTYLY-MACROCEPHALY SYNDROME
gene_symbol: IL10RB
disease_id: OMIM:612567
disease_name: INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE
gene_symbol: RIPK1
disease_id: OMIM:618108
disease_name: IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION
gene_symbol: SEC61A1
disease_id: OMIM:620674
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT
gene_symbol: MNX1
disease_id: OMIM:176450
disease_name: CURRARINO SYNDROME
gene_symbol: B2M
disease_id: OMIM:241600
disease_name: IMMUNODEFICIENCY 43
gene_symbol: BLM
disease_id: ORPHA:125
disease_name: Bloom syndrome
BSyn
gene_symbol: NTRK1
disease_id: ORPHA:642
disease_name: Hereditary sensory and autonomic neuropathy type 4
CIPA
Congenital insensitivity to pain with anhidrosis
HSAN4
Hereditary sensory and autonomic neuropathy type IV
gene_symbol: WDR1
disease_id: OMIM:150550
disease_name: PERIODIC FEVER, IMMUNODEFICIENCY, AND THROMBOCYTOPENIA SYNDROME
gene_symbol: MYD88
disease_id: OMIM:612260
disease_name: IMMUNODEFICIENCY 68
gene_symbol: LCP2
disease_id: OMIM:619374
disease_name: IMMUNODEFICIENCY 81
gene_symbol: CYBC1
disease_id: OMIM:618935
disease_name: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5
gene_symbol: IL1RN
disease_id: OMIM:612852
disease_name: OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS
gene_symbol: LCK
disease_id: OMIM:615758
disease_name: IMMUNODEFICIENCY 22
gene_symbol: PGM3
disease_id: OMIM:615816
disease_name: IMMUNODEFICIENCY 23
gene_symbol: PSTPIP1
disease_id: OMIM:604416
disease_name: PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE
gene_symbol: ZNF341
disease_id: OMIM:618282
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE
gene_symbol: MEFV
disease_id: ORPHA:3243
disease_name: Sweet syndrome
Acute febrile neutrophilic dermatosis
gene_symbol: PTPN6
disease_id: ORPHA:3243
disease_name: Sweet syndrome
Acute febrile neutrophilic dermatosis
gene_symbol: DDR2
disease_id: OMIM:618175
disease_name: WARBURG-CINOTTI SYNDROME
gene_symbol: ACVRL1
disease_id: OMIM:600376
disease_name: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2
gene_symbol: ENG
disease_id: OMIM:187300
disease_name: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1
gene_symbol: FGFR3
disease_id: OMIM:616482
disease_name: ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS
gene_symbol: CLCN7
disease_id: ORPHA:53
disease_name: Albers-Schönberg osteopetrosis
Osteopetrosis autosomal dominant type 2
gene_symbol: PHEX
disease_id: ORPHA:89936
disease_name: X-linked hypophosphatemia
X-linked hypophosphatemic rickets
XLH
gene_symbol: FGF23
disease_id: ORPHA:89937
disease_name: Autosomal dominant hypophosphatemic rickets
ADHR
Autosomal dominant hypophosphatemia
gene_symbol: DMP1
disease_id: ORPHA:289176
disease_name: Autosomal recessive hypophosphatemic rickets
ARHR
gene_symbol: ENPP1
disease_id: ORPHA:289176
disease_name: Autosomal recessive hypophosphatemic rickets
ARHR
gene_symbol: ELANE
disease_id: ORPHA:2686
disease_name: Cyclic neutropenia
gene_symbol: DLX3
disease_id: ORPHA:3352
disease_name: Tricho-dento-osseous syndrome
TDO syndrome
gene_symbol: DOCK8
disease_id: OMIM:243700
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
gene_symbol: XIAP
disease_id: ORPHA:538934
disease_name: X-linked lymphoproliferative disease due to XIAP deficiency
X-linked lymphoproliferative syndrome type 2
XIAP deficiency syndrome
XLP2
gene_symbol: MPEG1
disease_id: OMIM:619223
disease_name: IMMUNODEFICIENCY 77
gene_symbol: STAT3
disease_id: OMIM:147060
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
gene_symbol: STAT3
disease_id: ORPHA:2314
disease_name: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency
AD-HIES due to STAT3 deficiency
Autosomal dominant HIES due to STAT3 deficiency
Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency
Buckley syndrome
Job syndrome
gene_symbol: IL6ST
disease_id: OMIM:619752
disease_name: HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS
gene_symbol: CARMIL2
disease_id: OMIM:618131
disease_name: IMMUNODEFICIENCY 58
gene_symbol: IKBKB
disease_id: OMIM:618204
disease_name: IMMUNODEFICIENCY 15A
gene_symbol: OTULIN
disease_id: OMIM:619986
disease_name: IMMUNODEFICIENCY 107, SUSCEPTIBILITY TO INVASIVE STAPHYLOCOCCUS AUREUS INFECTION
gene_symbol: IL6R
disease_id: OMIM:618944
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE
gene_symbol: IL17RA
disease_id: OMIM:613953
disease_name: IMMUNODEFICIENCY 51
gene_symbol: SRP68
disease_id: OMIM:620534
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 10, AUTOSOMAL RECESSIVE
gene_symbol: ABCB4
disease_id: ORPHA:69663
disease_name: Low phospholipid-associated cholelithiasis
ABCB4-related cholelithiasis
LPAC
gene_symbol: IRAK4
disease_id: OMIM:607676
disease_name: IMMUNODEFICIENCY 67
gene_symbol: IGKC
disease_id: ORPHA:183675
disease_name: Recurrent infections associated with rare immunoglobulin isotypes deficiency
IgG subclass deficiency with IgA subclass deficiency
Isolated IgG subclass deficiency
Kappa-chain deficiency
Selective IgG subclass deficiency
gene_symbol: IGHG2
disease_id: ORPHA:183675
disease_name: Recurrent infections associated with rare immunoglobulin isotypes deficiency
IgG subclass deficiency with IgA subclass deficiency
Isolated IgG subclass deficiency
Kappa-chain deficiency
Selective IgG subclass deficiency
gene_symbol: NCF4
disease_id: ORPHA:379
disease_name: Chronic granulomatous disease
CGD
Chronic septic granulomatosis
gene_symbol: PKHD1
disease_id: ORPHA:53035
disease_name: Caroli disease
gene_symbol: CTSC
disease_id: ORPHA:678
disease_name: Papillon-Lefèvre syndrome
Keratosis palmoplantar-periodontopathy syndrome
PLS
gene_symbol: BRCA1
disease_id: ORPHA:1333
disease_name: Familial pancreatic carcinoma
Familial pancreatic cancer
gene_symbol: RABL3
disease_id: ORPHA:1333
disease_name: Familial pancreatic carcinoma
Familial pancreatic cancer
gene_symbol: TP53
disease_id: ORPHA:1333
disease_name: Familial pancreatic carcinoma
Familial pancreatic cancer
gene_symbol: BRCA2
disease_id: ORPHA:1333
disease_name: Familial pancreatic carcinoma
Familial pancreatic cancer
gene_symbol: KRAS
disease_id: ORPHA:1333
disease_name: Familial pancreatic carcinoma
Familial pancreatic cancer
gene_symbol: CDKN2A
disease_id: ORPHA:1333
disease_name: Familial pancreatic carcinoma
Familial pancreatic cancer
gene_symbol: PALB2
disease_id: ORPHA:1333
disease_name: Familial pancreatic carcinoma
Familial pancreatic cancer
gene_symbol: SMAD4
disease_id: ORPHA:1333
disease_name: Familial pancreatic carcinoma
Familial pancreatic cancer
gene_symbol: PALLD
disease_id: ORPHA:1333
disease_name: Familial pancreatic carcinoma
Familial pancreatic cancer
gene_symbol: PDCD1
disease_id: OMIM:621004
disease_name: OMIM:621004
gene_symbol: BTK
disease_id: ORPHA:47
disease_name: X-linked agammaglobulinemia
BTK-deficiency
Bruton type agammaglobulinemia
gene_symbol: GJB6
disease_id: ORPHA:477
disease_name: KID syndrome
Ichthyosis hystrix Rheydt type
KID/HID syndrome
Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome
Senter syndrome
gene_symbol: GJB2
disease_id: ORPHA:477
disease_name: KID syndrome
Ichthyosis hystrix Rheydt type
KID/HID syndrome
Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome
Senter syndrome
gene_symbol: UBE2A
disease_id: ORPHA:163956
disease_name: X-linked intellectual disability, Nascimento type
X-linked intellectual disability-nail dystrophy-seizures syndrome
gene_symbol: PSENEN
disease_id: OMIM:613736
disease_name: ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE
gene_symbol: PSEN1
disease_id: OMIM:613737
disease_name: ACNE INVERSA, FAMILIAL, 3