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:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | ACP5 CL E G H | 54 | 124 | ORPHA:1855 | Spondyloenchondrodysplasia | HP:0040283 - Occasional | | | 16 | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 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:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | 87 | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | | | | 87 | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | CD247 CL E G H | 919 | 1677 | OMIM:610163 | IMMUNODEFICIENCY 25; IMD25 | | | | 8 | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | CD3G CL E G H | 917 | 1675 | OMIM:615607 | Immunodeficiency 17 | HP:0040283 - Occasional | | | 19 | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | CIITA CL E G H | 4261 | 7067 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040283 - Occasional | | | 118 | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | CTLA4 CL E G H | 1493 | 2505 | OMIM:616100 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5 | | | | 10 | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | 59 | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | FAS CL E G H | 355 | 11920 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | . | | | 59 | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | FASLG CL E G H | 356 | 11936 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | . | | | 37 | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | IL2RB CL E G H | 3560 | 6009 | OMIM:618495 | Immunodeficiency 63 with lymphoproliferation and autoimmunity | . | | | | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | ITK CL E G H | 3702 | 6171 | OMIM:613011 | LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1 | | | | 51 | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | NBN CL E G H | 4683 | 7652 | ORPHA:647 | Nijmegen breakage syndrome | HP:0040281 - Very frequent | | | 706 | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | NBN CL E G H | 4683 | 7652 | OMIM:251260 | Nijmegen breakage syndrome | . | | | 706 | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | NFKB1 CL E G H | 4790 | 7794 | OMIM:616576 | IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12 | | | | 7 | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | NLRP1 CL E G H | 22861 | 14374 | OMIM:617388 | AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK | | | | 37 | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | PI4KA CL E G H | 5297 | 8983 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | HP:0040284 - Very rare | | | 11 | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | PNP CL E G H | 4860 | 7892 | OMIM:613179 | Immunodeficiency due to purine nucleoside phosphorylase deficiency | . | | | 52 | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | PNP CL E G H | 4860 | 7892 | ORPHA:760 | Purine nucleoside phosphorylase deficiency | HP:0040282 - Frequent | | | 52 | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | PSMG2 CL E G H | 56984 | 24929 | OMIM:619183 | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4 | | | | | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | RAG1 CL E G H | 5896 | 9831 | ORPHA:231154 | Combined immunodeficiency due to partial RAG1 deficiency | HP:0040282 - Frequent | | | 127 | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040283 - Occasional | | | 127 | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040283 - Occasional | | | 50 | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040282 - Frequent | | | | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | RFX5 CL E G H | 5993 | 9986 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040283 - Occasional | | | 38 | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | RFXANK CL E G H | 8625 | 9987 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040283 - Occasional | | | 26 | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | RFXAP CL E G H | 5994 | 9988 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040283 - Occasional | | | 34 | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040282 - Frequent | | | 89 | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | STAT1 CL E G H | 6772 | 11362 | OMIM:614162 | Immunodeficiency 31C | HP:0040283 - Occasional | | | 89 | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | STAT3 CL E G H | 6774 | 11364 | OMIM:615952 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1 | | | | 110 | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | STIM1 CL E G H | 6786 | 11386 | OMIM:612783 | Immunodeficiency 10 | . | | | 31 | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | TLR8 CL E G H | 51311 | 15632 | OMIM:301078 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98 | | | | | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040282 - Frequent | | | | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | TPP2 CL E G H | 7174 | 12016 | ORPHA:444463 | Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | TPP2 CL E G H | 7174 | 12016 | OMIM:619220 | IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78 | | | | | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | TTC7A CL E G H | 57217 | 19750 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | HP:0040284 - Very rare | | | 26 | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | TTC7A CL E G H | 57217 | 19750 | OMIM:243150 | Gastrointestinal defects and immunodeficiency syndrome | HP:0040283 - Occasional | | | 26 | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0001890 | HP:0001890 | Autoimmune hemolytic anemia | 0 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | HP:0040284 - Very rare | | | 46 | | |