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:0100759 | HP:0100759 | Clubbing of fingers | 0 | ABCA3 CL E G H | 21 | 33 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 147 | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | ATP11A CL E G H | 23250 | 13552 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:79076 | Juvenile polyposis of infancy | HP:0040283 - Occasional | | | 385 | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | CD55 CL E G H | 1604 | 2665 | OMIM:226300 | Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy | . | | | 9 | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | CFTR CL E G H | 1080 | 1884 | OMIM:219700 | Cystic fibrosis | | | | 1371 | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | DPP9 CL E G H | 91039 | 18648 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | DSP CL E G H | 1832 | 3052 | OMIM:605676 | Cardiomyopathy, dilated, with woolly hair and keratoderma | | | | 747 | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | DSP CL E G H | 1832 | 3052 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 747 | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | EIF2AK4 CL E G H | 440275 | 19687 | ORPHA:199241 | Pulmonary capillary hemangiomatosis | HP:0040282 - Frequent | | | 40 | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | FAM13A CL E G H | 10144 | 19367 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | FCGR2A CL E G H | 2212 | 3616 | OMIM:219700 | Cystic fibrosis | | | | 6 | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:189 | Hidrotic ectodermal dysplasia | | | | 56 | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | HNRNPH1 CL E G H | 3187 | 5041 | OMIM:620083 | | | | | | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | HPGD CL E G H | 3248 | 5154 | ORPHA:217059 | Isolated congenital digital clubbing | | | | 55 | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1865 | Dyssegmental dysplasia, Silverman-Handmaker type | HP:0040283 - Occasional | | | 345 | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | IL21 CL E G H | 59067 | 6005 | OMIM:615767 | IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11 | | | | 3 | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | INTU CL E G H | 27152 | 29239 | OMIM:617926 | OROFACIODIGITAL SYNDROME XVII; OFD17 | | | | | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:619574 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH | | | | 257 | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | MUC5B CL E G H | 727897 | 7516 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 133 | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | MUC5B CL E G H | 727897 | 7516 | OMIM:178500 | Pulmonary fibrosis, idiopathic | | | | 133 | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | NCKAP1L CL E G H | 3071 | 4862 | OMIM:618982 | IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72 | | | | | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:191900 | Muckle-Wells syndrome | | | | 217 | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 26 | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | . | | | 20 | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:79076 | Juvenile polyposis of infancy | HP:0040283 - Occasional | | | 948 | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | PTH1R CL E G H | 5745 | 9608 | OMIM:156400 | Metaphyseal chondrodysplasia, Jansen type | . | | | 58 | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 77 | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | SFTPA1 CL E G H | 653509 | 10798 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 19 | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | SFTPA2 CL E G H | 729238 | 10799 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 10 | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | SFTPA2 CL E G H | 729238 | 10799 | OMIM:178500 | Pulmonary fibrosis, idiopathic | | | | 10 | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | SFTPC CL E G H | 6440 | 10802 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 33 | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | SFTPC CL E G H | 6440 | 10802 | OMIM:178500 | Pulmonary fibrosis, idiopathic | | | | 33 | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | SLC34A2 CL E G H | 10568 | 11020 | ORPHA:60025 | Pulmonary alveolar microlithiasis | HP:0040283 - Occasional | | | 7 | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | SLC5A6 CL E G H | 8884 | 11041 | OMIM:618973 | NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB | | | | | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | SLCO2A1 CL E G H | 6578 | 10955 | OMIM:167100 | Hypertrophic osteoarthropathy, primary, autosomal dominant | | | | 13 | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | STK11 CL E G H | 6794 | 11389 | OMIM:175200 | Peutz-Jeghers syndrome | . | | | 740 | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | STN1 CL E G H | 79991 | 26200 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 2 | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | TERC CL E G H | 7012 | 11727 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 48 | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:2032 | Idiopathic pulmonary fibrosis | HP:0040282 - Frequent | | | 238 | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | TERT CL E G H | 7015 | 11730 | OMIM:614742 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1 | | | | 238 | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | TERT CL E G H | 7015 | 11730 | OMIM:178500 | Pulmonary fibrosis, idiopathic | | | | 238 | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | TGFB1 CL E G H | 7040 | 11766 | OMIM:219700 | Cystic fibrosis | | | | 13 | | |
HP:0100759 | HP:0100759 | Clubbing of fingers | 0 | TLL1 CL E G H | 7092 | 11843 | ORPHA:99106 | Atrial septal defect, ostium primum type | HP:0040283 - Occasional | | | 6 | | |