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:0032154 | HP:0032154 | Aphthous ulcer | 0 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | C4A CL E G H | 720 | 1323 | ORPHA:117 | Behçet disease | | | | 1 | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | CARMIL2 CL E G H | 146206 | 27089 | OMIM:618131 | IMMUNODEFICIENCY 58; IMD58 | | | | 3 | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 87 | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | CCR1 CL E G H | 1230 | 1602 | ORPHA:117 | Behçet disease | | | | | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | CEBPE CL E G H | 1053 | 1836 | OMIM:260570 | Pelger-Huet-Like anomaly and episodic fever with abdominal pain | | | | 3 | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | CLPB CL E G H | 81570 | 30664 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 38 | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:275 | Severe combined immunodeficiency due to DCLRE1C deficiency | | | | 94 | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | ELANE CL E G H | 1991 | 3309 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 79 | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | ERAP1 CL E G H | 51752 | 18173 | ORPHA:117 | Behçet disease | | | | 1 | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | FAS CL E G H | 355 | 11920 | ORPHA:117 | Behçet disease | | | | 59 | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | GFI1 CL E G H | 2672 | 4237 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 56 | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:117 | Behçet disease | | | | 4 | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:29207 | Reactive arthritis | | | | 4 | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | HLA-DQA1 CL E G H | 3117 | 4942 | OMIM:212750 | Celiac disease, susceptibility to, 1 | | | | | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:212750 | Celiac disease, susceptibility to, 1 | | | | | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | HYOU1 CL E G H | 10525 | 16931 | OMIM:233600 | Immunodeficiency 59 and hypoglycemia | | | | | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | IFNGR1 CL E G H | 3459 | 5439 | ORPHA:117 | Behçet disease | | | | 60 | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | IL10 CL E G H | 3586 | 5962 | ORPHA:117 | Behçet disease | | | | 2 | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | IL12A CL E G H | 3592 | 5969 | ORPHA:117 | Behçet disease | | | | | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | IL12A-AS1 CL E G H | 101928376 | 49094 | ORPHA:117 | Behçet disease | | | | | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | IL17RC CL E G H | 84818 | 18358 | OMIM:616445 | Candidiasis, familial, 9 | | | | 4 | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | IL21 CL E G H | 59067 | 6005 | OMIM:615767 | IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11 | | | | 3 | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | IL23R CL E G H | 149233 | 19100 | ORPHA:117 | Behçet disease | | | | 1 | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | IL6 CL E G H | 3569 | 6018 | OMIM:266600 | Inflammatory bowel disease 1, Crohn disease | . | | | 2 | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | KLRC4 CL E G H | 8302 | 6377 | ORPHA:117 | Behçet disease | | | | | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:117 | Behçet disease | | | | 281 | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | MEFV CL E G H | 4210 | 6998 | OMIM:249100 | Familial Mediterranean fever, AR | | | | 281 | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | MVK CL E G H | 4598 | 7530 | ORPHA:343 | Hyperimmunoglobulinemia D with periodic fever | | | | 150 | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | NCF4 CL E G H | 4689 | 7662 | OMIM:613960 | Chronic granulomatous disease 3, autosomal recessive | | | | 37 | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | NLRP12 CL E G H | 91662 | 22938 | OMIM:611762 | Familial cold autoinflammatory syndrome 2 | | | | 99 | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:120100 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1 | | | | 217 | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:191900 | Muckle-Wells syndrome | | | | 217 | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:575 | Muckle-Wells syndrome | | | | 217 | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | NOD2 CL E G H | 64127 | 5331 | OMIM:266600 | Inflammatory bowel disease 1, Crohn disease | . | | | 187 | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | ORAI1 CL E G H | 84876 | 25896 | OMIM:612782 | Immunodeficiency 9 | | | | 19 | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 10 | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | PRKDC CL E G H | 5591 | 9413 | OMIM:615966 | Immunodeficiency 26 with or without neurologic abnormalities | | | | 42 | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | RIN2 CL E G H | 54453 | 18750 | OMIM:613075 | Macs syndrome | | | | 43 | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:117 | Behçet disease | | | | 2 | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 82 | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | TLR4 CL E G H | 7099 | 11850 | ORPHA:117 | Behçet disease | | | | 3 | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | TLR8 CL E G H | 51311 | 15632 | OMIM:301078 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98 | | | | | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | UBAC2 CL E G H | 337867 | 20486 | ORPHA:117 | Behçet disease | | | | | | |
HP:0032154 | HP:0032154 | Aphthous ulcer | 0 | WDR1 CL E G H | 9948 | 12754 | OMIM:150550 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | | | | | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | C4A CL E G H | 720 | 1323 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 1 | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | CARMIL2 CL E G H | 146206 | 27089 | OMIM:618131 | IMMUNODEFICIENCY 58; IMD58 | | | | 3 | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 87 | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | CCR1 CL E G H | 1230 | 1602 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | CEBPE CL E G H | 1053 | 1836 | OMIM:260570 | Pelger-Huet-Like anomaly and episodic fever with abdominal pain | | | | 3 | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | CLPB CL E G H | 81570 | 30664 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 38 | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:275 | Severe combined immunodeficiency due to DCLRE1C deficiency | HP:0040283 - Occasional | | | 94 | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | ELANE CL E G H | 1991 | 3309 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 79 | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | ERAP1 CL E G H | 51752 | 18173 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 1 | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 59 | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | FAS CL E G H | 355 | 11920 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 59 | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 37 | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | GFI1 CL E G H | 2672 | 4237 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 56 | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | HLA-B CL E G H | 3106 | 4932 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 4 | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | HLA-B CL E G H | 3106 | 4932 | ORPHA:29207 | Reactive arthritis | HP:0040281 - Very frequent | | | 4 | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | HLA-DQA1 CL E G H | 3117 | 4942 | OMIM:212750 | Celiac disease, susceptibility to, 1 | . | | | | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:212750 | Celiac disease, susceptibility to, 1 | . | | | | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | HYOU1 CL E G H | 10525 | 16931 | OMIM:233600 | Immunodeficiency 59 and hypoglycemia | | | | | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | IFNGR1 CL E G H | 3459 | 5439 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 60 | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | IL10 CL E G H | 3586 | 5962 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 2 | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | IL12A CL E G H | 3592 | 5969 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | IL12A-AS1 CL E G H | 101928376 | 49094 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | IL17RC CL E G H | 84818 | 18358 | OMIM:616445 | Candidiasis, familial, 9 | . | | | 4 | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | IL23R CL E G H | 149233 | 19100 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 1 | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | IL6 CL E G H | 3569 | 6018 | OMIM:266600 | Inflammatory bowel disease 1, Crohn disease | . | | | 2 | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | KLRC4 CL E G H | 8302 | 6377 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | MEFV CL E G H | 4210 | 6998 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 281 | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | MVK CL E G H | 4598 | 7530 | ORPHA:343 | Hyperimmunoglobulinemia D with periodic fever | HP:0040282 - Frequent | | | 150 | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | NCF4 CL E G H | 4689 | 7662 | OMIM:613960 | Chronic granulomatous disease 3, autosomal recessive | . | | | 37 | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | NLRP12 CL E G H | 91662 | 22938 | OMIM:611762 | Familial cold autoinflammatory syndrome 2 | | | | 99 | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | NLRP3 CL E G H | 114548 | 16400 | OMIM:191900 | Muckle-Wells syndrome | . | | | 217 | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:575 | Muckle-Wells syndrome | HP:0040283 - Occasional | | | 217 | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | NOD2 CL E G H | 64127 | 5331 | OMIM:266600 | Inflammatory bowel disease 1, Crohn disease | . | | | 187 | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | ORAI1 CL E G H | 84876 | 25896 | OMIM:612782 | Immunodeficiency 9 | . | | | 19 | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | 10 | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | PRKDC CL E G H | 5591 | 9413 | OMIM:615966 | Immunodeficiency 26 with or without neurologic abnormalities | . | | | 42 | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040284 - Very rare | | | | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | RIN2 CL E G H | 54453 | 18750 | OMIM:613075 | Macs syndrome | | | | 43 | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | SRP54 CL E G H | 6729 | 11301 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | STAT4 CL E G H | 6775 | 11365 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 2 | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 82 | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | TLR4 CL E G H | 7099 | 11850 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 3 | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | TLR8 CL E G H | 51311 | 15632 | OMIM:301078 | IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98 | | | | | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | UBAC2 CL E G H | 337867 | 20486 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | | | |
HP:0032154 | HP:0011107 | Recurrent aphthous stomatitis | 1 | WDR1 CL E G H | 9948 | 12754 | OMIM:150550 | Periodic fever, immunodeficiency, and thrombocytopenia syndrome | | | | | | |