Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | ADA CL E G H | 100 | 186 | OMIM:102700 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | | | | 75 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | AIRE CL E G H | 326 | 360 | ORPHA:3453 | Autoimmune polyendocrinopathy type 1 | | | | 92 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | | | | 169 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | | | | 276 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | CARD9 CL E G H | 64170 | 16391 | OMIM:212050 | Candidiasis, familial chronic mucocutaneous, autosomal recessive | | | | 45 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | CARMIL2 CL E G H | 146206 | 27089 | OMIM:618131 | IMMUNODEFICIENCY 58; IMD58 | | | | 3 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | CD247 CL E G H | 919 | 1677 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 8 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | CD3D CL E G H | 915 | 1673 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 18 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | CD3E CL E G H | 916 | 1674 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 24 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | CD3G CL E G H | 917 | 1675 | OMIM:615607 | Immunodeficiency 17 | | | | 19 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | CD40LG CL E G H | 959 | 11935 | OMIM:308230 | Immunodeficiency, X-linked, with hyper-IgM | | | | 33 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | | | | 636 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | CIITA CL E G H | 4261 | 7067 | OMIM:209920 | Bare lymphocyte syndrome, type II | | | | 118 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | CIITA CL E G H | 4261 | 7067 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 118 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | CLEC7A CL E G H | 64581 | 14558 | OMIM:613108 | CANDIDIASIS, FAMILIAL, 4; CANDF4 | | | | 3 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:275 | Severe combined immunodeficiency due to DCLRE1C deficiency | | | | 94 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | | | | 6 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | IL17F CL E G H | 112744 | 16404 | OMIM:613956 | CANDIDIASIS, FAMILIAL, 6; CANDF6 | | | | 14 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | IL17RA CL E G H | 23765 | 5985 | OMIM:613953 | Immunodeficiency 51 | | | | 196 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | IL17RC CL E G H | 84818 | 18358 | OMIM:616445 | Candidiasis, familial, 9 | | | | 4 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | IL2RG CL E G H | 3561 | 6010 | OMIM:300400 | Severe combined immunodeficiency, X-linked | | | | 48 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | HP:0040283 - Occasional | | | 48 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | IL6ST CL E G H | 3572 | 6021 | OMIM:619752 | HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A | | | | | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | IL7R CL E G H | 3575 | 6024 | OMIM:608971 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive | | | | 94 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | ITGB2 CL E G H | 3689 | 6155 | OMIM:116920 | Leukocyte adhesion deficiency, type I | | | | 114 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | | | | 140 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | MVK CL E G H | 4598 | 7530 | OMIM:260920 | Hyper-Igd syndrome | | | | 150 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | | | | 79 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | PGM3 CL E G H | 5238 | 8907 | OMIM:615816 | Immunodeficiency 23 | | | | 15 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | RFX5 CL E G H | 5993 | 9986 | OMIM:209920 | Bare lymphocyte syndrome, type II | | | | 38 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | RFX5 CL E G H | 5993 | 9986 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 38 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | RFXANK CL E G H | 8625 | 9987 | OMIM:209920 | Bare lymphocyte syndrome, type II | | | | 26 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | RFXANK CL E G H | 8625 | 9987 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 26 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | RFXAP CL E G H | 5994 | 9988 | OMIM:209920 | Bare lymphocyte syndrome, type II | | | | 34 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | RFXAP CL E G H | 5994 | 9988 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 34 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | | | | 49 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | SREBF1 CL E G H | 6720 | 11289 | OMIM:158310 | Mucoepithelial dysplasia, hereditary | | | | 1 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | | | | 89 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | STAT1 CL E G H | 6772 | 11362 | OMIM:614162 | Immunodeficiency 31C | | | | 89 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | STAT3 CL E G H | 6774 | 11364 | OMIM:147060 | Hyper-IgE recurrent infection syndrome | | | | 110 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | TFRC CL E G H | 7037 | 11763 | OMIM:616740 | Immunodeficiency 46 | | | | 1 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | TLR8 CL E G H | 51311 | 15632 | OMIM:301078 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98 | | | | | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | | | | | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | | | | 911 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | | | | 1 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | | | | 7 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | WDR1 CL E G H | 9948 | 12754 | OMIM:150550 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | | | | | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | | | | 46 | | |
HP:0011370 | HP:0011370 | Recurrent cutaneous fungal infections | 0 | ZNF341 CL E G H | 84905 | 15992 | OMIM:618282 | Hyper-Ige recurrent infection syndrome 3, autosomal recessive | | | | 1 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | ADA CL E G H | 100 | 186 | OMIM:102700 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | | | | 75 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | AIRE CL E G H | 326 | 360 | ORPHA:3453 | Autoimmune polyendocrinopathy type 1 | HP:0040281 - Very frequent | | | 92 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | CARD9 CL E G H | 64170 | 16391 | OMIM:212050 | Candidiasis, familial chronic mucocutaneous, autosomal recessive | | | | 45 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | CARMIL2 CL E G H | 146206 | 27089 | OMIM:618131 | IMMUNODEFICIENCY 58; IMD58 | | | | 3 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | CD247 CL E G H | 919 | 1677 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 8 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | CD3D CL E G H | 915 | 1673 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 18 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | CD3E CL E G H | 916 | 1674 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 24 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | CD3G CL E G H | 917 | 1675 | OMIM:615607 | Immunodeficiency 17 | | | | 19 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | CD40LG CL E G H | 959 | 11935 | OMIM:308230 | Immunodeficiency, X-linked, with hyper-IgM | | | | 33 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | CIITA CL E G H | 4261 | 7067 | OMIM:209920 | Bare lymphocyte syndrome, type II | . | | | 118 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | CIITA CL E G H | 4261 | 7067 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040282 - Frequent | | | 118 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | CLEC7A CL E G H | 64581 | 14558 | OMIM:613108 | CANDIDIASIS, FAMILIAL, 4; CANDF4 | | | | 3 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:275 | Severe combined immunodeficiency due to DCLRE1C deficiency | | | | 94 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | | | | 6 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | . | | | 40 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | IL17F CL E G H | 112744 | 16404 | OMIM:613956 | CANDIDIASIS, FAMILIAL, 6; CANDF6 | | | | 14 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | IL17RA CL E G H | 23765 | 5985 | OMIM:613953 | Immunodeficiency 51 | | | | 196 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | IL17RC CL E G H | 84818 | 18358 | OMIM:616445 | Candidiasis, familial, 9 | | | | 4 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | IL2RG CL E G H | 3561 | 6010 | OMIM:300400 | Severe combined immunodeficiency, X-linked | | | | 48 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | HP:0040283 - Occasional | | | 48 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | IL6ST CL E G H | 3572 | 6021 | OMIM:619752 | HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A | | | | | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | IL7R CL E G H | 3575 | 6024 | OMIM:608971 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive | | | | 94 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | ITGB2 CL E G H | 3689 | 6155 | OMIM:116920 | Leukocyte adhesion deficiency, type I | | | | 114 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | | | | 140 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | MVK CL E G H | 4598 | 7530 | OMIM:260920 | Hyper-Igd syndrome | | | | 150 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | PGM3 CL E G H | 5238 | 8907 | OMIM:615816 | Immunodeficiency 23 | | | | 15 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | RFX5 CL E G H | 5993 | 9986 | OMIM:209920 | Bare lymphocyte syndrome, type II | . | | | 38 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | RFX5 CL E G H | 5993 | 9986 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040282 - Frequent | | | 38 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | RFXANK CL E G H | 8625 | 9987 | OMIM:209920 | Bare lymphocyte syndrome, type II | . | | | 26 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | RFXANK CL E G H | 8625 | 9987 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040282 - Frequent | | | 26 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | RFXAP CL E G H | 5994 | 9988 | OMIM:209920 | Bare lymphocyte syndrome, type II | . | | | 34 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | RFXAP CL E G H | 5994 | 9988 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040282 - Frequent | | | 34 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | HP:0040283 - Occasional | | | 49 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | SREBF1 CL E G H | 6720 | 11289 | OMIM:158310 | Mucoepithelial dysplasia, hereditary | . | | | 1 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040281 - Very frequent | | | 89 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | STAT1 CL E G H | 6772 | 11362 | OMIM:614162 | Immunodeficiency 31C | . | | | 89 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | STAT3 CL E G H | 6774 | 11364 | OMIM:147060 | Hyper-IgE recurrent infection syndrome | | | | 110 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | TFRC CL E G H | 7037 | 11763 | OMIM:616740 | Immunodeficiency 46 | | | | 1 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | TLR8 CL E G H | 51311 | 15632 | OMIM:301078 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98 | | | | | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040281 - Very frequent | | | | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | WDR1 CL E G H | 9948 | 12754 | OMIM:150550 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | | | | | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | HP:0040283 - Occasional | | | 46 | | |
HP:0011370 | HP:0002728 | Chronic mucocutaneous candidiasis | 1 | ZNF341 CL E G H | 84905 | 15992 | OMIM:618282 | Hyper-Ige recurrent infection syndrome 3, autosomal recessive | . | | | 1 | | |
HP:0011370 | HP:0005411 | Chronic intestinal candidiasis | 2 | CL E G H | | | | | | | | | | |
HP:0011370 | HP:0009098 | Chronic oral candidiasis | 2 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0011370 | HP:0009098 | Chronic oral candidiasis | 2 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0011370 | HP:0009098 | Chronic oral candidiasis | 2 | CARD9 CL E G H | 64170 | 16391 | OMIM:212050 | Candidiasis, familial chronic mucocutaneous, autosomal recessive | | | | 45 | | |
HP:0011370 | HP:0009098 | Chronic oral candidiasis | 2 | CD247 CL E G H | 919 | 1677 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040283 - Occasional | | | 8 | | |
HP:0011370 | HP:0009098 | Chronic oral candidiasis | 2 | CD3D CL E G H | 915 | 1673 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040283 - Occasional | | | 18 | | |
HP:0011370 | HP:0009098 | Chronic oral candidiasis | 2 | CD3E CL E G H | 916 | 1674 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040283 - Occasional | | | 24 | | |
HP:0011370 | HP:0009098 | Chronic oral candidiasis | 2 | CD3G CL E G H | 917 | 1675 | OMIM:615607 | Immunodeficiency 17 | | | | 19 | | |
HP:0011370 | HP:0009098 | Chronic oral candidiasis | 2 | CD40LG CL E G H | 959 | 11935 | OMIM:308230 | Immunodeficiency, X-linked, with hyper-IgM | | | | 33 | | |
HP:0011370 | HP:0012204 | Recurrent vulvovaginal candidiasis | 2 | CLEC7A CL E G H | 64581 | 14558 | OMIM:613108 | CANDIDIASIS, FAMILIAL, 4; CANDF4 | | | | 3 | | |
HP:0011370 | HP:0009098 | Chronic oral candidiasis | 2 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:275 | Severe combined immunodeficiency due to DCLRE1C deficiency | HP:0040283 - Occasional | | | 94 | | |
HP:0011370 | HP:0009098 | Chronic oral candidiasis | 2 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | | | | 6 | | |
HP:0011370 | HP:0009098 | Chronic oral candidiasis | 2 | IL17RA CL E G H | 23765 | 5985 | OMIM:613953 | Immunodeficiency 51 | | | | 196 | | |
HP:0011370 | HP:0009098 | Chronic oral candidiasis | 2 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0011370 | HP:0009098 | Chronic oral candidiasis | 2 | IL2RG CL E G H | 3561 | 6010 | OMIM:300400 | Severe combined immunodeficiency, X-linked | | | | 48 | | |
HP:0011370 | HP:0009098 | Chronic oral candidiasis | 2 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | HP:0040283 - Occasional | | | 48 | | |
HP:0011370 | HP:0009098 | Chronic oral candidiasis | 2 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | HP:0040282 - Frequent | | | 140 | | |
HP:0011370 | HP:0009098 | Chronic oral candidiasis | 2 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 1 | | |
HP:0011370 | HP:0009098 | Chronic oral candidiasis | 2 | MVK CL E G H | 4598 | 7530 | OMIM:260920 | Hyper-Igd syndrome | | | | 150 | | |
HP:0011370 | HP:0009098 | Chronic oral candidiasis | 2 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 9 | | |
HP:0011370 | HP:0009098 | Chronic oral candidiasis | 2 | STAT1 CL E G H | 6772 | 11362 | OMIM:614162 | Immunodeficiency 31C | | | | 89 | | |
HP:0011370 | HP:0012204 | Recurrent vulvovaginal candidiasis | 2 | STAT1 CL E G H | 6772 | 11362 | OMIM:614162 | Immunodeficiency 31C | | | | 89 | | |
HP:0011370 | HP:0009098 | Chronic oral candidiasis | 2 | TFRC CL E G H | 7037 | 11763 | OMIM:616740 | Immunodeficiency 46 | | | | 1 | | |
HP:0011370 | HP:0009098 | Chronic oral candidiasis | 2 | TLR8 CL E G H | 51311 | 15632 | OMIM:301078 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98 | | | | | | |
HP:0011370 | HP:0009098 | Chronic oral candidiasis | 2 | WDR1 CL E G H | 9948 | 12754 | OMIM:150550 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | | | | | | |
HP:0011370 | HP:0009098 | Chronic oral candidiasis | 2 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | HP:0040282 - Frequent | | | 46 | | |