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:0005430 | HP:0005430 | Recurrent Neisserial infections | 0 | C5 CL E G H | 727 | 1331 | OMIM:609536 | C5 deficiency | | | | 16 | | |
HP:0005430 | HP:0005430 | Recurrent Neisserial infections | 0 | C6 CL E G H | 729 | 1339 | OMIM:612446 | COMPLEMENT COMPONENT 6 DEFICIENCY; C6D | | | | 12 | | |
HP:0005430 | HP:0005430 | Recurrent Neisserial infections | 0 | C7 CL E G H | 730 | 1346 | OMIM:610102 | COMPLEMENT COMPONENT 7 DEFICIENCY; C7D | | | | 14 | | |
HP:0005430 | HP:0005430 | Recurrent Neisserial infections | 0 | C8B CL E G H | 732 | 1353 | OMIM:613789 | Complement component 8 deficiency, type II | . | | | 7 | | |
HP:0005430 | HP:0005430 | Recurrent Neisserial infections | 0 | CFB CL E G H | 629 | 1037 | OMIM:615561 | COMPLEMENT FACTOR B DEFICIENCY; CFBD | | | | 30 | | |
HP:0005430 | HP:0005430 | Recurrent Neisserial infections | 0 | CFI CL E G H | 3426 | 5394 | OMIM:610984 | Complement factor I deficiency | | | | 57 | | |
HP:0005430 | HP:0005430 | Recurrent Neisserial infections | 0 | MBL2 CL E G H | 4153 | 6922 | OMIM:614372 | Mannose-Binding lectin deficiency | | | | 54 | | |
HP:0005430 | HP:0005381 | Recurrent meningococcal disease | 1 | C5 CL E G H | 727 | 1331 | OMIM:609536 | C5 deficiency | | | | 16 | | |
HP:0005430 | HP:0005381 | Recurrent meningococcal disease | 1 | C6 CL E G H | 729 | 1339 | OMIM:612446 | COMPLEMENT COMPONENT 6 DEFICIENCY; C6D | | | | 12 | | |
HP:0005430 | HP:0005381 | Recurrent meningococcal disease | 1 | C7 CL E G H | 730 | 1346 | OMIM:610102 | COMPLEMENT COMPONENT 7 DEFICIENCY; C7D | | | | 14 | | |
HP:0005430 | HP:0005381 | Recurrent meningococcal disease | 1 | CFB CL E G H | 629 | 1037 | OMIM:615561 | COMPLEMENT FACTOR B DEFICIENCY; CFBD | | | | 30 | | |
HP:0005430 | HP:0005381 | Recurrent meningococcal disease | 1 | CFI CL E G H | 3426 | 5394 | OMIM:610984 | Complement factor I deficiency | . | | | 57 | | |
HP:0005430 | HP:0005381 | Recurrent meningococcal disease | 1 | MBL2 CL E G H | 4153 | 6922 | OMIM:614372 | Mannose-Binding lectin deficiency | | | | 54 | | |