Phenotype: Recurrent fungal infections (HP:0002841)
Associated genes and diseases:
gene_symbol: NCF2
disease_id: OMIM:233710
disease_name: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2
gene_symbol: STX1A
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: GSTM3
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: TGFB1
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: GCLC
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: CEACAM3
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: SLC11A1
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: DCTN4
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: KCNN4
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: MIF
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: EDNRA
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: SLC9A3
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: HMOX1
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: SLC26A9
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: HFE
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: SLC6A14
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: SERPINA1
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: CFTR
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: CLCA4
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: CEACAM6
disease_id: ORPHA:586
disease_name: Cystic fibrosis
CF
Mucoviscidosis
gene_symbol: CYBB
disease_id: OMIM:306400
disease_name: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED
gene_symbol: NCF1
disease_id: OMIM:233700
disease_name: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1
gene_symbol: STAT1
disease_id: ORPHA:391487
disease_name: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
gene_symbol: CYBA
disease_id: OMIM:233690
disease_name: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4
gene_symbol: ZNF341
disease_id: OMIM:618282
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE
gene_symbol: ITGB2
disease_id: OMIM:116920
disease_name: LEUKOCYTE ADHESION DEFICIENCY, TYPE I
gene_symbol: IL6ST
disease_id: OMIM:619752
disease_name: HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS
gene_symbol: MAP3K14
disease_id: OMIM:620449
disease_name: IMMUNODEFICIENCY 112
gene_symbol: IKBKB
disease_id: OMIM:618204
disease_name: IMMUNODEFICIENCY 15A
gene_symbol: IL17F
disease_id: OMIM:613956
disease_name: CANDIDIASIS, FAMILIAL, 6
gene_symbol: SP110
disease_id: ORPHA:79124
disease_name: Hepatic veno-occlusive disease-immunodeficiency syndrome
VODI syndrome
gene_symbol: SREBF1
disease_id: OMIM:158310
disease_name: MUCOEPITHELIAL DYSPLASIA, HEREDITARY
gene_symbol: IKBKG
disease_id: ORPHA:98813
disease_name: Hypohidrotic ectodermal dysplasia with immunodeficiency
Anhidrotic ectodermal dysplasia with immunodeficiency
EDA-ID
HED-ID
gene_symbol: NFKBIA
disease_id: ORPHA:98813
disease_name: Hypohidrotic ectodermal dysplasia with immunodeficiency
Anhidrotic ectodermal dysplasia with immunodeficiency
EDA-ID
HED-ID
gene_symbol: EPG5
disease_id: OMIM:242840
disease_name: VICI SYNDROME
gene_symbol: RFXAP
disease_id: ORPHA:572
disease_name: Immunodeficiency by defective expression of MHC class II
Bare lymphocyte syndrome type 2
MHC class II deficiency
gene_symbol: CIITA
disease_id: ORPHA:572
disease_name: Immunodeficiency by defective expression of MHC class II
Bare lymphocyte syndrome type 2
MHC class II deficiency
gene_symbol: CIITA
disease_id: OMIM:209920
disease_name: BARE LYMPHOCYTE SYNDROME, TYPE II
gene_symbol: RFX5
disease_id: ORPHA:572
disease_name: Immunodeficiency by defective expression of MHC class II
Bare lymphocyte syndrome type 2
MHC class II deficiency
gene_symbol: RFXANK
disease_id: ORPHA:572
disease_name: Immunodeficiency by defective expression of MHC class II
Bare lymphocyte syndrome type 2
MHC class II deficiency
gene_symbol: AIRE
disease_id: OMIM:240300
disease_name: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA
gene_symbol: DEF6
disease_id: OMIM:619573
disease_name: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY
gene_symbol: ADA
disease_id: OMIM:102700
disease_name: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
gene_symbol: RAG1
disease_id: ORPHA:331206
disease_name: Severe combined immunodeficiency due to complete RAG1/2 deficiency
SCID due to complete RAG1/2 deficiency
gene_symbol: RAG1
disease_id: OMIM:603554
disease_name: OMENN SYNDROME
gene_symbol: RAG2
disease_id: ORPHA:331206
disease_name: Severe combined immunodeficiency due to complete RAG1/2 deficiency
SCID due to complete RAG1/2 deficiency
gene_symbol: RAG2
disease_id: OMIM:603554
disease_name: OMENN SYNDROME
gene_symbol: PGM3
disease_id: ORPHA:443811
disease_name: PGM3-CDG
CID due to PGM3 deficiency
Combined immunodeficiency due to PGM3 deficiency
PGM3-related congenital disorder of glycosylation
gene_symbol: BTD
disease_id: ORPHA:79241
disease_name: Biotinidase deficiency
Juvenile-onset multiple carboxylase deficiency
Late-onset multiple carboxylase deficiency
gene_symbol: ARPC5
disease_id: OMIM:620565
disease_name: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION
gene_symbol: STK4
disease_id: OMIM:614868
disease_name: T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS
gene_symbol: PIK3CD
disease_id: ORPHA:221139
disease_name: Combined immunodeficiency with facio-oculo-skeletal anomalies
Roifman-Chitayat syndrome
gene_symbol: KNSTRN
disease_id: ORPHA:221139
disease_name: Combined immunodeficiency with facio-oculo-skeletal anomalies
Roifman-Chitayat syndrome
gene_symbol: DCLRE1C
disease_id: OMIM:603554
disease_name: OMENN SYNDROME
gene_symbol: DOCK8
disease_id: OMIM:243700
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
gene_symbol: IL12RB1
disease_id: ORPHA:186
disease_name: Primary biliary cholangitis
Hanot syndrome
PBC
Primary biliary cirrhosis
gene_symbol: TNPO3
disease_id: ORPHA:186
disease_name: Primary biliary cholangitis
Hanot syndrome
PBC
Primary biliary cirrhosis
gene_symbol: IL12A
disease_id: ORPHA:186
disease_name: Primary biliary cholangitis
Hanot syndrome
PBC
Primary biliary cirrhosis
gene_symbol: SPIB
disease_id: ORPHA:186
disease_name: Primary biliary cholangitis
Hanot syndrome
PBC
Primary biliary cirrhosis
gene_symbol: POU2AF1
disease_id: ORPHA:186
disease_name: Primary biliary cholangitis
Hanot syndrome
PBC
Primary biliary cirrhosis
gene_symbol: TNFSF15
disease_id: ORPHA:186
disease_name: Primary biliary cholangitis
Hanot syndrome
PBC
Primary biliary cirrhosis
gene_symbol: MMEL1
disease_id: ORPHA:186
disease_name: Primary biliary cholangitis
Hanot syndrome
PBC
Primary biliary cirrhosis
gene_symbol: IRF5
disease_id: ORPHA:186
disease_name: Primary biliary cholangitis
Hanot syndrome
PBC
Primary biliary cirrhosis
gene_symbol: GATA2
disease_id: OMIM:614172
disease_name: IMMUNODEFICIENCY 21
gene_symbol: STAT3
disease_id: OMIM:147060
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
gene_symbol: IL2RG
disease_id: OMIM:300400
disease_name: SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED
gene_symbol: IKZF1
disease_id: OMIM:616873
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 13
gene_symbol: TYK2
disease_id: OMIM:611521
disease_name: IMMUNODEFICIENCY 35
gene_symbol: IL2RA
disease_id: OMIM:606367
disease_name: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY
gene_symbol: ZAP70
disease_id: OMIM:269840
disease_name: IMMUNODEFICIENCY 48
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: 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: CD3D
disease_id: ORPHA:169160
disease_name: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta
gene_symbol: CD3E
disease_id: ORPHA:169160
disease_name: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta
gene_symbol: CD247
disease_id: ORPHA:169160
disease_name: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta
gene_symbol: CD247
disease_id: OMIM:610163
disease_name: IMMUNODEFICIENCY 25
gene_symbol: SLC39A4
disease_id: OMIM:201100
disease_name: ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE
gene_symbol: CTLA4
disease_id: ORPHA:436159
disease_name: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
ALPS due to CTLA4 haploinsuffiency
CHAI
CTLA-4 haploinsufficiency with autoimmune infiltration disease
gene_symbol: ZBTB24
disease_id: OMIM:614069
disease_name: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2
gene_symbol: FOXN1
disease_id: ORPHA:83471
disease_name: T-cell immunodeficiency with thymic aplasia
Isolated aplasia/hypoplasia of the thymus
Isolated congenital athymia
Isolated congenital thymic aplasia/hypoplasia
Isolated thymic defect due to thymic aplasia/hypoplasia
Nezelof syndrome
gene_symbol: PIK3R1
disease_id: ORPHA:693681
disease_name: ORPHA:693681
gene_symbol: TFRC
disease_id: OMIM:616740
disease_name: IMMUNODEFICIENCY 46
gene_symbol: MVK
disease_id: OMIM:260920
disease_name: HYPER-IgD SYNDROME
gene_symbol: LCK
disease_id: OMIM:615758
disease_name: IMMUNODEFICIENCY 22
gene_symbol: CD40LG
disease_id: OMIM:308230
disease_name: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1
gene_symbol: AP3B1
disease_id: OMIM:608233
disease_name: HERMANSKY-PUDLAK SYNDROME 2
gene_symbol: TLR8
disease_id: OMIM:301078
disease_name: IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED
gene_symbol: WDR1
disease_id: OMIM:150550
disease_name: PERIODIC FEVER, IMMUNODEFICIENCY, AND THROMBOCYTOPENIA SYNDROME
gene_symbol: PSMB10
disease_id: OMIM:620807
disease_name: OMIM:620807
gene_symbol: TRAC
disease_id: OMIM:615387
disease_name: T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY
gene_symbol: CORO1A
disease_id: OMIM:615401
disease_name: IMMUNODEFICIENCY 8
gene_symbol: DOCK2
disease_id: OMIM:616433
disease_name: IMMUNODEFICIENCY 40
gene_symbol: CD3G
disease_id: OMIM:615607
disease_name: IMMUNODEFICIENCY 17
gene_symbol: JAK3
disease_id: ORPHA:35078
disease_name: T-B+ severe combined immunodeficiency due to JAK3 deficiency
T-B+ SCID due to JAK3 deficiency
gene_symbol: RORC
disease_id: OMIM:616622
disease_name: IMMUNODEFICIENCY 42
gene_symbol: USP48
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: TP53
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: USP8
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: CDH23
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: NR3C1
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: BRAF
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: ATRX
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: IL17RA
disease_id: OMIM:613953
disease_name: IMMUNODEFICIENCY 51
gene_symbol: CARD9
disease_id: OMIM:212050
disease_name: CANDIDIASIS, FAMILIAL, 2
gene_symbol: CARMIL2
disease_id: OMIM:618131
disease_name: IMMUNODEFICIENCY 58
gene_symbol: SDR9C7
disease_id: OMIM:617574
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13
gene_symbol: KRT1
disease_id: ORPHA:530838
disease_name: KRT1-related diffuse nonepidermolytic keratoderma
KRT1-related diffuse NEPPK
gene_symbol: NFKB2
disease_id: OMIM:615577
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 10
gene_symbol: CYBC1
disease_id: OMIM:618935
disease_name: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5
gene_symbol: IL17RC
disease_id: OMIM:616445
disease_name: CANDIDIASIS, FAMILIAL, 9
gene_symbol: ATR
disease_id: OMIM:614564
disease_name: CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL
gene_symbol: TRAF3IP2
disease_id: OMIM:615527
disease_name: CANDIDIASIS, FAMILIAL, 8
gene_symbol: HPGD
disease_id: ORPHA:217059
disease_name: Isolated nail clubbing
Isolated congenital acropachy
Isolated congenital digital clubbing
gene_symbol: PLCG2
disease_id: OMIM:614468
disease_name: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3
gene_symbol: CLEC7A
disease_id: OMIM:613108
disease_name: CANDIDIASIS, FAMILIAL, 4