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:0005420 | HP:0005420 | Recurrent gram-negative bacterial infections | 0 | C5 CL E G H | 727 | 1331 | OMIM:609536 | C5 deficiency | | | | 16 | | |
HP:0005420 | HP:0005420 | Recurrent gram-negative bacterial infections | 0 | C6 CL E G H | 729 | 1339 | OMIM:612446 | COMPLEMENT COMPONENT 6 DEFICIENCY; C6D | | | | 12 | | |
HP:0005420 | HP:0005420 | Recurrent gram-negative bacterial infections | 0 | C7 CL E G H | 730 | 1346 | OMIM:610102 | COMPLEMENT COMPONENT 7 DEFICIENCY; C7D | | | | 14 | | |
HP:0005420 | HP:0005420 | Recurrent gram-negative bacterial infections | 0 | C8B CL E G H | 732 | 1353 | OMIM:613789 | Complement component 8 deficiency, type II | | | | 7 | | |
HP:0005420 | HP:0005420 | Recurrent gram-negative bacterial infections | 0 | CEACAM3 CL E G H | 1084 | 1815 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0005420 | HP:0005420 | Recurrent gram-negative bacterial infections | 0 | CEACAM6 CL E G H | 4680 | 1818 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0005420 | HP:0005420 | Recurrent gram-negative bacterial infections | 0 | CFB CL E G H | 629 | 1037 | OMIM:615561 | COMPLEMENT FACTOR B DEFICIENCY; CFBD | | | | 30 | | |
HP:0005420 | HP:0005420 | Recurrent gram-negative bacterial infections | 0 | CFI CL E G H | 3426 | 5394 | OMIM:610984 | Complement factor I deficiency | | | | 57 | | |
HP:0005420 | HP:0005420 | Recurrent gram-negative bacterial infections | 0 | CFTR CL E G H | 1080 | 1884 | ORPHA:586 | Cystic fibrosis | | | | 1371 | | |
HP:0005420 | HP:0005420 | Recurrent gram-negative bacterial infections | 0 | CFTR CL E G H | 1080 | 1884 | ORPHA:60033 | Idiopathic bronchiectasis | | | | 1371 | | |
HP:0005420 | HP:0005420 | Recurrent gram-negative bacterial infections | 0 | CLCA4 CL E G H | 22802 | 2018 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0005420 | HP:0005420 | Recurrent gram-negative bacterial infections | 0 | CYBA CL E G H | 1535 | 2577 | OMIM:233690 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE | | | | 27 | | |
HP:0005420 | HP:0005420 | Recurrent gram-negative bacterial infections | 0 | CYBB CL E G H | 1536 | 2578 | OMIM:306400 | Chronic granulomatous disease, X-linked | | | | 111 | | |
HP:0005420 | HP:0005420 | Recurrent gram-negative bacterial infections | 0 | DCTN4 CL E G H | 51164 | 15518 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0005420 | HP:0005420 | Recurrent gram-negative bacterial infections | 0 | EDNRA CL E G H | 1909 | 3179 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0005420 | HP:0005420 | Recurrent gram-negative bacterial infections | 0 | GCLC CL E G H | 2729 | 4311 | ORPHA:586 | Cystic fibrosis | | | | 2 | | |
HP:0005420 | HP:0005420 | Recurrent gram-negative bacterial infections | 0 | GSTM3 CL E G H | 2947 | 4635 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0005420 | HP:0005420 | Recurrent gram-negative bacterial infections | 0 | HFE CL E G H | 3077 | 4886 | ORPHA:586 | Cystic fibrosis | | | | 38 | | |
HP:0005420 | HP:0005420 | Recurrent gram-negative bacterial infections | 0 | HMOX1 CL E G H | 3162 | 5013 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0005420 | HP:0005420 | Recurrent gram-negative bacterial infections | 0 | IL12RB1 CL E G H | 3594 | 5971 | ORPHA:319552 | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency | | | | 46 | | |
HP:0005420 | HP:0005420 | Recurrent gram-negative bacterial infections | 0 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | | | | 48 | | |
HP:0005420 | HP:0005420 | Recurrent gram-negative bacterial infections | 0 | ITGB2 CL E G H | 3689 | 6155 | OMIM:116920 | Leukocyte adhesion deficiency, type I | . | | | 114 | | |
HP:0005420 | HP:0005420 | Recurrent gram-negative bacterial infections | 0 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0005420 | HP:0005420 | Recurrent gram-negative bacterial infections | 0 | MBL2 CL E G H | 4153 | 6922 | OMIM:614372 | Mannose-Binding lectin deficiency | | | | 54 | | |
HP:0005420 | HP:0005420 | Recurrent gram-negative bacterial infections | 0 | MIF CL E G H | 4282 | 7097 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0005420 | HP:0005420 | Recurrent gram-negative bacterial infections | 0 | NCF1 CL E G H | 653361 | 7660 | OMIM:233700 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I | | | | 13 | | |
HP:0005420 | HP:0005420 | Recurrent gram-negative bacterial infections | 0 | NCF2 CL E G H | 4688 | 7661 | OMIM:233710 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II | | | | 67 | | |
HP:0005420 | HP:0005420 | Recurrent gram-negative bacterial infections | 0 | RPGR CL E G H | 6103 | 10295 | OMIM:300455 | RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS | | | | 200 | | |
HP:0005420 | HP:0005420 | Recurrent gram-negative bacterial infections | 0 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:60033 | Idiopathic bronchiectasis | | | | 67 | | |
HP:0005420 | HP:0005420 | Recurrent gram-negative bacterial infections | 0 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:60033 | Idiopathic bronchiectasis | | | | 61 | | |
HP:0005420 | HP:0005420 | Recurrent gram-negative bacterial infections | 0 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:60033 | Idiopathic bronchiectasis | | | | 57 | | |
HP:0005420 | HP:0005420 | Recurrent gram-negative bacterial infections | 0 | SERPINA1 CL E G H | 5265 | 8941 | ORPHA:586 | Cystic fibrosis | | | | 131 | | |
HP:0005420 | HP:0005420 | Recurrent gram-negative bacterial infections | 0 | SLC11A1 CL E G H | 6556 | 10907 | ORPHA:586 | Cystic fibrosis | | | | 2 | | |
HP:0005420 | HP:0005420 | Recurrent gram-negative bacterial infections | 0 | SLC26A9 CL E G H | 115019 | 14469 | ORPHA:586 | Cystic fibrosis | | | | 5 | | |
HP:0005420 | HP:0005420 | Recurrent gram-negative bacterial infections | 0 | SLC6A14 CL E G H | 11254 | 11047 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0005420 | HP:0005420 | Recurrent gram-negative bacterial infections | 0 | SLC9A3 CL E G H | 6550 | 11073 | ORPHA:586 | Cystic fibrosis | | | | 7 | | |
HP:0005420 | HP:0005420 | Recurrent gram-negative bacterial infections | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0005420 | HP:0005420 | Recurrent gram-negative bacterial infections | 0 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:586 | Cystic fibrosis | | | | 13 | | |
HP:0005420 | HP:0005430 | Recurrent Neisserial infections | 1 | C5 CL E G H | 727 | 1331 | OMIM:609536 | C5 deficiency | | | | 16 | | |
HP:0005420 | HP:0005430 | Recurrent Neisserial infections | 1 | C6 CL E G H | 729 | 1339 | OMIM:612446 | COMPLEMENT COMPONENT 6 DEFICIENCY; C6D | | | | 12 | | |
HP:0005420 | HP:0005430 | Recurrent Neisserial infections | 1 | C7 CL E G H | 730 | 1346 | OMIM:610102 | COMPLEMENT COMPONENT 7 DEFICIENCY; C7D | | | | 14 | | |
HP:0005420 | HP:0005430 | Recurrent Neisserial infections | 1 | C8B CL E G H | 732 | 1353 | OMIM:613789 | Complement component 8 deficiency, type II | . | | | 7 | | |
HP:0005420 | HP:0002842 | Recurrent Burkholderia cepacia infections | 1 | CEACAM3 CL E G H | 1084 | 1815 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0005420 | HP:0005376 | Recurrent Haemophilus influenzae infections | 1 | CEACAM3 CL E G H | 1084 | 1815 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0005420 | HP:0002842 | Recurrent Burkholderia cepacia infections | 1 | CEACAM6 CL E G H | 4680 | 1818 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0005420 | HP:0005376 | Recurrent Haemophilus influenzae infections | 1 | CEACAM6 CL E G H | 4680 | 1818 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0005420 | HP:0005430 | Recurrent Neisserial infections | 1 | CFB CL E G H | 629 | 1037 | OMIM:615561 | COMPLEMENT FACTOR B DEFICIENCY; CFBD | | | | 30 | | |
HP:0005420 | HP:0005430 | Recurrent Neisserial infections | 1 | CFI CL E G H | 3426 | 5394 | OMIM:610984 | Complement factor I deficiency | | | | 57 | | |
HP:0005420 | HP:0005376 | Recurrent Haemophilus influenzae infections | 1 | CFI CL E G H | 3426 | 5394 | OMIM:610984 | Complement factor I deficiency | . | | | 57 | | |
HP:0005420 | HP:0005376 | Recurrent Haemophilus influenzae infections | 1 | CFTR CL E G H | 1080 | 1884 | ORPHA:586 | Cystic fibrosis | | | | 1371 | | |
HP:0005420 | HP:0002842 | Recurrent Burkholderia cepacia infections | 1 | CFTR CL E G H | 1080 | 1884 | ORPHA:586 | Cystic fibrosis | | | | 1371 | | |
HP:0005420 | HP:0005376 | Recurrent Haemophilus influenzae infections | 1 | CFTR CL E G H | 1080 | 1884 | ORPHA:60033 | Idiopathic bronchiectasis | HP:0040282 - Frequent | | | 1371 | | |
HP:0005420 | HP:0005376 | Recurrent Haemophilus influenzae infections | 1 | CLCA4 CL E G H | 22802 | 2018 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0005420 | HP:0002842 | Recurrent Burkholderia cepacia infections | 1 | CLCA4 CL E G H | 22802 | 2018 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0005420 | HP:0002740 | Recurrent E. coli infections | 1 | CYBA CL E G H | 1535 | 2577 | OMIM:233690 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE | . | | | 27 | | |
HP:0005420 | HP:0002741 | Recurrent Serratia marcescens infections | 1 | CYBA CL E G H | 1535 | 2577 | OMIM:233690 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE | . | | | 27 | | |
HP:0005420 | HP:0002842 | Recurrent Burkholderia cepacia infections | 1 | CYBA CL E G H | 1535 | 2577 | OMIM:233690 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE | . | | | 27 | | |
HP:0005420 | HP:0002742 | Recurrent Klebsiella infections | 1 | CYBA CL E G H | 1535 | 2577 | OMIM:233690 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE | . | | | 27 | | |
HP:0005420 | HP:0002842 | Recurrent Burkholderia cepacia infections | 1 | CYBB CL E G H | 1536 | 2578 | OMIM:306400 | Chronic granulomatous disease, X-linked | . | | | 111 | | |
HP:0005420 | HP:0002741 | Recurrent Serratia marcescens infections | 1 | CYBB CL E G H | 1536 | 2578 | OMIM:306400 | Chronic granulomatous disease, X-linked | . | | | 111 | | |
HP:0005420 | HP:0002742 | Recurrent Klebsiella infections | 1 | CYBB CL E G H | 1536 | 2578 | OMIM:306400 | Chronic granulomatous disease, X-linked | . | | | 111 | | |
HP:0005420 | HP:0002740 | Recurrent E. coli infections | 1 | CYBB CL E G H | 1536 | 2578 | OMIM:306400 | Chronic granulomatous disease, X-linked | . | | | 111 | | |
HP:0005420 | HP:0002842 | Recurrent Burkholderia cepacia infections | 1 | DCTN4 CL E G H | 51164 | 15518 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0005420 | HP:0005376 | Recurrent Haemophilus influenzae infections | 1 | DCTN4 CL E G H | 51164 | 15518 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0005420 | HP:0002842 | Recurrent Burkholderia cepacia infections | 1 | EDNRA CL E G H | 1909 | 3179 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0005420 | HP:0005376 | Recurrent Haemophilus influenzae infections | 1 | EDNRA CL E G H | 1909 | 3179 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0005420 | HP:0005376 | Recurrent Haemophilus influenzae infections | 1 | GCLC CL E G H | 2729 | 4311 | ORPHA:586 | Cystic fibrosis | | | | 2 | | |
HP:0005420 | HP:0002842 | Recurrent Burkholderia cepacia infections | 1 | GCLC CL E G H | 2729 | 4311 | ORPHA:586 | Cystic fibrosis | | | | 2 | | |
HP:0005420 | HP:0002842 | Recurrent Burkholderia cepacia infections | 1 | GSTM3 CL E G H | 2947 | 4635 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0005420 | HP:0005376 | Recurrent Haemophilus influenzae infections | 1 | GSTM3 CL E G H | 2947 | 4635 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0005420 | HP:0002842 | Recurrent Burkholderia cepacia infections | 1 | HFE CL E G H | 3077 | 4886 | ORPHA:586 | Cystic fibrosis | | | | 38 | | |
HP:0005420 | HP:0005376 | Recurrent Haemophilus influenzae infections | 1 | HFE CL E G H | 3077 | 4886 | ORPHA:586 | Cystic fibrosis | | | | 38 | | |
HP:0005420 | HP:0005376 | Recurrent Haemophilus influenzae infections | 1 | HMOX1 CL E G H | 3162 | 5013 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0005420 | HP:0002842 | Recurrent Burkholderia cepacia infections | 1 | HMOX1 CL E G H | 3162 | 5013 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0005420 | HP:0002742 | Recurrent Klebsiella infections | 1 | IL12RB1 CL E G H | 3594 | 5971 | ORPHA:319552 | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency | HP:0040284 - Very rare | | | 46 | | |
HP:0005420 | HP:0005376 | Recurrent Haemophilus influenzae infections | 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:0005420 | HP:0005376 | Recurrent Haemophilus influenzae infections | 1 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0005420 | HP:0002842 | Recurrent Burkholderia cepacia infections | 1 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0005420 | HP:0002742 | Recurrent Klebsiella infections | 1 | MBL2 CL E G H | 4153 | 6922 | OMIM:614372 | Mannose-Binding lectin deficiency | | | | 54 | | |
HP:0005420 | HP:0005430 | Recurrent Neisserial infections | 1 | MBL2 CL E G H | 4153 | 6922 | OMIM:614372 | Mannose-Binding lectin deficiency | | | | 54 | | |
HP:0005420 | HP:0005376 | Recurrent Haemophilus influenzae infections | 1 | MIF CL E G H | 4282 | 7097 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0005420 | HP:0002842 | Recurrent Burkholderia cepacia infections | 1 | MIF CL E G H | 4282 | 7097 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0005420 | HP:0002742 | Recurrent Klebsiella infections | 1 | NCF1 CL E G H | 653361 | 7660 | OMIM:233700 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I | . | | | 13 | | |
HP:0005420 | HP:0002842 | Recurrent Burkholderia cepacia infections | 1 | NCF1 CL E G H | 653361 | 7660 | OMIM:233700 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I | . | | | 13 | | |
HP:0005420 | HP:0002740 | Recurrent E. coli infections | 1 | NCF1 CL E G H | 653361 | 7660 | OMIM:233700 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I | . | | | 13 | | |
HP:0005420 | HP:0002741 | Recurrent Serratia marcescens infections | 1 | NCF1 CL E G H | 653361 | 7660 | OMIM:233700 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I | . | | | 13 | | |
HP:0005420 | HP:0002842 | Recurrent Burkholderia cepacia infections | 1 | NCF2 CL E G H | 4688 | 7661 | OMIM:233710 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II | . | | | 67 | | |
HP:0005420 | HP:0002741 | Recurrent Serratia marcescens infections | 1 | NCF2 CL E G H | 4688 | 7661 | OMIM:233710 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II | . | | | 67 | | |
HP:0005420 | HP:0002742 | Recurrent Klebsiella infections | 1 | NCF2 CL E G H | 4688 | 7661 | OMIM:233710 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II | . | | | 67 | | |
HP:0005420 | HP:0002740 | Recurrent E. coli infections | 1 | NCF2 CL E G H | 4688 | 7661 | OMIM:233710 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II | . | | | 67 | | |
HP:0005420 | HP:0005376 | Recurrent Haemophilus influenzae infections | 1 | RPGR CL E G H | 6103 | 10295 | OMIM:300455 | RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS | | | | 200 | | |
HP:0005420 | HP:0005376 | Recurrent Haemophilus influenzae infections | 1 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:60033 | Idiopathic bronchiectasis | HP:0040282 - Frequent | | | 67 | | |
HP:0005420 | HP:0005376 | Recurrent Haemophilus influenzae infections | 1 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:60033 | Idiopathic bronchiectasis | HP:0040282 - Frequent | | | 61 | | |
HP:0005420 | HP:0005376 | Recurrent Haemophilus influenzae infections | 1 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:60033 | Idiopathic bronchiectasis | HP:0040282 - Frequent | | | 57 | | |
HP:0005420 | HP:0005376 | Recurrent Haemophilus influenzae infections | 1 | SERPINA1 CL E G H | 5265 | 8941 | ORPHA:586 | Cystic fibrosis | | | | 131 | | |
HP:0005420 | HP:0002842 | Recurrent Burkholderia cepacia infections | 1 | SERPINA1 CL E G H | 5265 | 8941 | ORPHA:586 | Cystic fibrosis | | | | 131 | | |
HP:0005420 | HP:0005376 | Recurrent Haemophilus influenzae infections | 1 | SLC11A1 CL E G H | 6556 | 10907 | ORPHA:586 | Cystic fibrosis | | | | 2 | | |
HP:0005420 | HP:0002842 | Recurrent Burkholderia cepacia infections | 1 | SLC11A1 CL E G H | 6556 | 10907 | ORPHA:586 | Cystic fibrosis | | | | 2 | | |
HP:0005420 | HP:0005376 | Recurrent Haemophilus influenzae infections | 1 | SLC26A9 CL E G H | 115019 | 14469 | ORPHA:586 | Cystic fibrosis | | | | 5 | | |
HP:0005420 | HP:0002842 | Recurrent Burkholderia cepacia infections | 1 | SLC26A9 CL E G H | 115019 | 14469 | ORPHA:586 | Cystic fibrosis | | | | 5 | | |
HP:0005420 | HP:0005376 | Recurrent Haemophilus influenzae infections | 1 | SLC6A14 CL E G H | 11254 | 11047 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0005420 | HP:0002842 | Recurrent Burkholderia cepacia infections | 1 | SLC6A14 CL E G H | 11254 | 11047 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0005420 | HP:0005376 | Recurrent Haemophilus influenzae infections | 1 | SLC9A3 CL E G H | 6550 | 11073 | ORPHA:586 | Cystic fibrosis | | | | 7 | | |
HP:0005420 | HP:0002842 | Recurrent Burkholderia cepacia infections | 1 | SLC9A3 CL E G H | 6550 | 11073 | ORPHA:586 | Cystic fibrosis | | | | 7 | | |
HP:0005420 | HP:0002842 | Recurrent Burkholderia cepacia infections | 1 | STX1A CL E G H | 6804 | 11433 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0005420 | HP:0005376 | Recurrent Haemophilus influenzae infections | 1 | STX1A CL E G H | 6804 | 11433 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0005420 | HP:0002842 | Recurrent Burkholderia cepacia infections | 1 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:586 | Cystic fibrosis | | | | 13 | | |
HP:0005420 | HP:0005376 | Recurrent Haemophilus influenzae infections | 1 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:586 | Cystic fibrosis | | | | 13 | | |
HP:0005420 | HP:0005381 | Recurrent meningococcal disease | 2 | C5 CL E G H | 727 | 1331 | OMIM:609536 | C5 deficiency | | | | 16 | | |
HP:0005420 | HP:0005381 | Recurrent meningococcal disease | 2 | C6 CL E G H | 729 | 1339 | OMIM:612446 | COMPLEMENT COMPONENT 6 DEFICIENCY; C6D | | | | 12 | | |
HP:0005420 | HP:0005381 | Recurrent meningococcal disease | 2 | C7 CL E G H | 730 | 1346 | OMIM:610102 | COMPLEMENT COMPONENT 7 DEFICIENCY; C7D | | | | 14 | | |
HP:0005420 | HP:0005381 | Recurrent meningococcal disease | 2 | CFB CL E G H | 629 | 1037 | OMIM:615561 | COMPLEMENT FACTOR B DEFICIENCY; CFBD | | | | 30 | | |
HP:0005420 | HP:0005381 | Recurrent meningococcal disease | 2 | CFI CL E G H | 3426 | 5394 | OMIM:610984 | Complement factor I deficiency | . | | | 57 | | |
HP:0005420 | HP:0005381 | Recurrent meningococcal disease | 2 | MBL2 CL E G H | 4153 | 6922 | OMIM:614372 | Mannose-Binding lectin deficiency | | | | 54 | | |