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:0004432 | HP:0004432 | Agammaglobulinemia | 0 | BLNK CL E G H | 29760 | 14211 | OMIM:613502 | Agammaglobulinemia 4, autosomal recessive | . | | | 4 | | |
HP:0004432 | HP:0004432 | Agammaglobulinemia | 0 | BLNK CL E G H | 29760 | 14211 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 4 | | |
HP:0004432 | HP:0004432 | Agammaglobulinemia | 0 | BTK CL E G H | 695 | 1133 | OMIM:300755 | Agammaglobulinemia, X-linked | . | | | 109 | | |
HP:0004432 | HP:0004432 | Agammaglobulinemia | 0 | BTK CL E G H | 695 | 1133 | ORPHA:47 | X-linked agammaglobulinemia | HP:0040281 - Very frequent | | | 109 | | |
HP:0004432 | HP:0004432 | Agammaglobulinemia | 0 | CARD11 CL E G H | 84433 | 16393 | OMIM:615206 | Card11 immunodeficiency | | | | 45 | | |
HP:0004432 | HP:0004432 | Agammaglobulinemia | 0 | CD79A CL E G H | 973 | 1698 | OMIM:613501 | Agammaglobulinemia 3, autosomal recessive | . | | | 9 | | |
HP:0004432 | HP:0004432 | Agammaglobulinemia | 0 | CD79A CL E G H | 973 | 1698 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 9 | | |
HP:0004432 | HP:0004432 | Agammaglobulinemia | 0 | CD79B CL E G H | 974 | 1699 | OMIM:612692 | Agammaglobulinemia 6, autosomal recessive | . | | | 6 | | |
HP:0004432 | HP:0004432 | Agammaglobulinemia | 0 | CD79B CL E G H | 974 | 1699 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 6 | | |
HP:0004432 | HP:0004432 | Agammaglobulinemia | 0 | CDCA7 CL E G H | 83879 | 14628 | OMIM:616910 | Immunodeficiency-Centromeric instability-facial anomalies syndrome 3 | . | | | 4 | | |
HP:0004432 | HP:0004432 | Agammaglobulinemia | 0 | CIITA CL E G H | 4261 | 7067 | OMIM:209920 | Bare lymphocyte syndrome, type II | . | | | 118 | | |
HP:0004432 | HP:0004432 | Agammaglobulinemia | 0 | FNIP1 CL E G H | 96459 | 29418 | OMIM:619705 | IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93 | | | | 1 | | |
HP:0004432 | HP:0004432 | Agammaglobulinemia | 0 | HELLS CL E G H | 3070 | 4861 | OMIM:616911 | Immunodeficiency-centromeric instability-facial anomalies syndrome 4 | . | | | 6 | | |
HP:0004432 | HP:0004432 | Agammaglobulinemia | 0 | IGHM CL E G H | 3507 | 5541 | OMIM:601495 | Agammaglobulinemia 1, autosomal recessive | . | | | 7 | | |
HP:0004432 | HP:0004432 | Agammaglobulinemia | 0 | IGHM CL E G H | 3507 | 5541 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 7 | | |
HP:0004432 | HP:0004432 | Agammaglobulinemia | 0 | IGLL1 CL E G H | 3543 | 5870 | OMIM:613500 | Agammaglobulinemia 2, autosomal recessive | . | | | 3 | | |
HP:0004432 | HP:0004432 | Agammaglobulinemia | 0 | IGLL1 CL E G H | 3543 | 5870 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 3 | | |
HP:0004432 | HP:0004432 | Agammaglobulinemia | 0 | IKBKB CL E G H | 3551 | 5960 | OMIM:615592 | Immunodeficiency 15 | . | | | 4 | | |
HP:0004432 | HP:0004432 | Agammaglobulinemia | 0 | IL2RG CL E G H | 3561 | 6010 | OMIM:300400 | Severe combined immunodeficiency, X-linked | | | | 48 | | |
HP:0004432 | HP:0004432 | Agammaglobulinemia | 0 | LRRC8A CL E G H | 56262 | 19027 | OMIM:613506 | Agammaglobulinemia 5, autosomal dominant | . | | | 3 | | |
HP:0004432 | HP:0004432 | Agammaglobulinemia | 0 | LRRC8A CL E G H | 56262 | 19027 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 3 | | |
HP:0004432 | HP:0004432 | Agammaglobulinemia | 0 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:615214 | Agammaglobulinemia 7, autosomal recessive | . | | | 43 | | |
HP:0004432 | HP:0004432 | Agammaglobulinemia | 0 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 43 | | |
HP:0004432 | HP:0004432 | Agammaglobulinemia | 0 | RFX5 CL E G H | 5993 | 9986 | OMIM:209920 | Bare lymphocyte syndrome, type II | . | | | 38 | | |
HP:0004432 | HP:0004432 | Agammaglobulinemia | 0 | RFXANK CL E G H | 8625 | 9987 | OMIM:209920 | Bare lymphocyte syndrome, type II | . | | | 26 | | |
HP:0004432 | HP:0004432 | Agammaglobulinemia | 0 | RFXAP CL E G H | 5994 | 9988 | OMIM:209920 | Bare lymphocyte syndrome, type II | . | | | 34 | | |
HP:0004432 | HP:0004432 | Agammaglobulinemia | 0 | SH3KBP1 CL E G H | 30011 | 13867 | OMIM:300310 | Immunodeficiency 61 | . | | | 2 | | |
HP:0004432 | HP:0004432 | Agammaglobulinemia | 0 | SLC39A7 CL E G H | 7922 | 4927 | OMIM:619693 | AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9 | | | | | | |
HP:0004432 | HP:0004432 | Agammaglobulinemia | 0 | SPI1 CL E G H | 6688 | 11241 | OMIM:619707 | AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10 | | | | | | |
HP:0004432 | HP:0004432 | Agammaglobulinemia | 0 | TCF3 CL E G H | 6929 | 11633 | OMIM:616941 | Agammaglobulinemia 8, autosomal dominant | | | | 2 | | |
HP:0004432 | HP:0004432 | Agammaglobulinemia | 0 | TCF3 CL E G H | 6929 | 11633 | OMIM:619824 | AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B | | | | 2 | | |
HP:0004432 | HP:0004432 | Agammaglobulinemia | 0 | TCF3 CL E G H | 6929 | 11633 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 2 | | |
HP:0004432 | HP:0004432 | Agammaglobulinemia | 0 | TIMM8A CL E G H | 1678 | 11817 | ORPHA:52368 | Mohr-Tranebjaerg syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0004432 | HP:0004432 | Agammaglobulinemia | 0 | TTC7A CL E G H | 57217 | 19750 | OMIM:243150 | Gastrointestinal defects and immunodeficiency syndrome | | | | 26 | | |