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:0002720 | HP:0002720 | Decreased circulating IgA level | 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:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | AICDA CL E G H | 57379 | 13203 | OMIM:605258 | Immunodeficiency with hyper-igm, type 2 | . | | | 58 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | . | | | 3267 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | ATP6AP1 CL E G H | 537 | 868 | OMIM:300972 | IMMUNODEFICIENCY 47; IMD47 | | | | 5 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | BACH2 CL E G H | 60468 | 14078 | OMIM:618394 | IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60 | | | | | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | BLM CL E G H | 641 | 1058 | OMIM:210900 | Bloom syndrome | . | | | 314 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | HP:0040282 - Frequent | | | 314 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | BLNK CL E G H | 29760 | 14211 | OMIM:613502 | Agammaglobulinemia 4, autosomal recessive | | | | 4 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | BTK CL E G H | 695 | 1133 | OMIM:300755 | Agammaglobulinemia, X-linked | | | | 109 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | CARD11 CL E G H | 84433 | 16393 | OMIM:616452 | B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA | | | | 45 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | CASP8 CL E G H | 841 | 1509 | OMIM:607271 | CASPASE 8 DEFICIENCY | | | | 37 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | CAVIN1 CL E G H | 284119 | 9688 | OMIM:613327 | Lipodystrophy, congenital generalized, type 4 | . | | | 48 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | CD19 CL E G H | 930 | 1633 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 38 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | CD19 CL E G H | 930 | 1633 | OMIM:613493 | IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3 | | | | 38 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | CD247 CL E G H | 919 | 1677 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 8 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | CD3D CL E G H | 915 | 1673 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 18 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | CD3E CL E G H | 916 | 1674 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 24 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | CD40 CL E G H | 958 | 11919 | OMIM:606843 | Immunodeficiency with hyper-igm, type 3 | . | | | 27 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | CD40LG CL E G H | 959 | 11935 | OMIM:308230 | Immunodeficiency, X-linked, with hyper-IgM | . | | | 33 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | CD79B CL E G H | 974 | 1699 | OMIM:612692 | Agammaglobulinemia 6, autosomal recessive | | | | 6 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | CR2 CL E G H | 1380 | 2336 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 10 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | CR2 CL E G H | 1380 | 2336 | OMIM:614699 | IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7 | | | | 10 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | CSNK2A1 CL E G H | 1457 | 2457 | OMIM:617062 | Okur-Chung neurodevelopmental syndrome | . | | | 12 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | CTLA4 CL E G H | 1493 | 2505 | OMIM:616100 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5 | | | | 10 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:275 | Severe combined immunodeficiency due to DCLRE1C deficiency | HP:0040282 - Frequent | | | 94 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | DNMT3B CL E G H | 1789 | 2979 | OMIM:242860 | Immunodeficiency-Centromeric instability-facial anomalies syndrome | . | | | 79 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | HLA-DQA1 CL E G H | 3117 | 4942 | OMIM:212750 | Celiac disease, susceptibility to, 1 | . | | | | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:212750 | Celiac disease, susceptibility to, 1 | . | | | | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | ICOS CL E G H | 29851 | 5351 | OMIM:607594 | Immunodeficiency, common variable, 1 | | | | 32 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | ICOS CL E G H | 29851 | 5351 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 32 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | IGHG2 CL E G H | 3501 | 5526 | ORPHA:183675 | Recurrent infections associated with rare immunoglobulin isotypes deficiency | | | | 1 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | IGKC CL E G H | 3514 | 5716 | ORPHA:183675 | Recurrent infections associated with rare immunoglobulin isotypes deficiency | | | | 5 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | IGLL1 CL E G H | 3543 | 5870 | OMIM:613500 | Agammaglobulinemia 2, autosomal recessive | | | | 3 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | IL2RG CL E G H | 3561 | 6010 | OMIM:300400 | Severe combined immunodeficiency, X-linked | | | | 48 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | HP:0040282 - Frequent | | | 48 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | IL6ST CL E G H | 3572 | 6021 | OMIM:619752 | HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A | | | | | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | IRF2BP2 CL E G H | 359948 | 21729 | OMIM:617765 | IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14 | | | | 4 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | ITCH CL E G H | 83737 | 13890 | OMIM:613385 | AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD | | | | 3 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | | | | 140 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | LIG1 CL E G H | 3978 | 6598 | OMIM:619774 | IMMUNODEFICIENCY 96; IMD96 | | | | 9 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | MOGS CL E G H | 7841 | 24862 | OMIM:606056 | Congenital disorder of glycosylation, type IIB | | | | 37 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | MOGS CL E G H | 7841 | 24862 | ORPHA:79330 | MOGS-CDG | HP:0040282 - Frequent | | | 37 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | MTOR CL E G H | 2475 | 3942 | ORPHA:457485 | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | HP:0040284 - Very rare | | | 68 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | MTOR CL E G H | 2475 | 3942 | OMIM:616638 | Smith-Kingsmore syndrome | . | | | 68 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | NFE2L2 CL E G H | 4780 | 7782 | OMIM:617744 | Immunodeficiency, developmental delay, and hypohomocysteinemia | | | | 20 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | NFKB2 CL E G H | 4791 | 7795 | OMIM:615577 | Immunodeficiency, common variable, 10 | | | | 11 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | PIGT CL E G H | 51604 | 14938 | ORPHA:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | PIK3CD CL E G H | 5293 | 8977 | OMIM:619281 | IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B | | | | 9 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | | | | 43 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | PLCG2 CL E G H | 5336 | 9066 | OMIM:614878 | Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated | . | | | 21 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | . | | | 150 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | PRIM1 CL E G H | 5557 | 9369 | OMIM:620005 | | | | | | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | PTPRC CL E G H | 5788 | 9666 | OMIM:619924 | | | | | 25 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040281 - Very frequent | | | 127 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040281 - Very frequent | | | 50 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | REL CL E G H | 5966 | 9954 | OMIM:619652 | IMMUNODEFICIENCY 92; IMD92 | | | | 1 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | RNF168 CL E G H | 165918 | 26661 | ORPHA:420741 | RIDDLE syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | SPI1 CL E G H | 6688 | 11241 | OMIM:619707 | AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10 | | | | | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | STAT2 CL E G H | 6773 | 11363 | OMIM:616636 | Immunodeficiency 44 | | | | 9 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | TCN2 CL E G H | 6948 | 11653 | ORPHA:859 | Transcobalamin deficiency | HP:0040282 - Frequent | | | 57 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | TCN2 CL E G H | 6948 | 11653 | OMIM:275350 | Transcobalamin II deficiency | . | | | 57 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | TNFRSF11A CL E G H | 8792 | 11908 | OMIM:612301 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7 | | | | 72 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | TNFRSF13B CL E G H | 23495 | 18153 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 32 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | TNFRSF13B CL E G H | 23495 | 18153 | OMIM:609529 | Immunoglobulin A deficiency 2 | . | | | 32 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | TNFRSF13C CL E G H | 115650 | 17755 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 12 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | TOM1 CL E G H | 10043 | 11982 | OMIM:619510 | IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85 | | | | | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | TYMS CL E G H | 7298 | 12441 | OMIM:620040 | | | | | 1 | | |
HP:0002720 | HP:0002720 | Decreased circulating IgA level | 0 | UNG CL E G H | 7374 | 12572 | OMIM:608106 | Immunodeficiency with hyper-igm, type 5 | . | | | 44 | | |
HP:0002720 | HP:0033024 | Transient decreased circulating IgA | 1 | CL E G H | | | | | | | | | | |
HP:0002720 | HP:0003460 | Decreased circulating total IgA | 1 | ATP6AP1 CL E G H | 537 | 868 | OMIM:300972 | IMMUNODEFICIENCY 47; IMD47 | | | | 5 | | |
HP:0002720 | HP:0003460 | Decreased circulating total IgA | 1 | CD247 CL E G H | 919 | 1677 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040282 - Frequent | | | 8 | | |
HP:0002720 | HP:0003460 | Decreased circulating total IgA | 1 | CD3D CL E G H | 915 | 1673 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040282 - Frequent | | | 18 | | |
HP:0002720 | HP:0003460 | Decreased circulating total IgA | 1 | CD3E CL E G H | 916 | 1674 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040282 - Frequent | | | 24 | | |
HP:0002720 | HP:0003460 | Decreased circulating total IgA | 1 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0002720 | HP:0011837 | Partial IgA deficiency | 1 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | HP:0040283 - Occasional | | | 140 | | |
HP:0002720 | HP:0003460 | Decreased circulating total IgA | 1 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 1 | | |
HP:0002720 | HP:0003460 | Decreased circulating total IgA | 1 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 9 | | |
HP:0002720 | HP:0003460 | Decreased circulating total IgA | 1 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |