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:0001061 | HP:0001061 | Acne | 0 | ABCC6 CL E G H | 368 | 57 | ORPHA:758 | Pseudoxanthoma elasticum | HP:0040283 - Occasional | | | 415 | | |
HP:0001061 | HP:0001061 | Acne | 0 | AGA CL E G H | 175 | 318 | OMIM:208400 | ASPARTYLGLUCOSAMINURIA | . | | | 76 | | |
HP:0001061 | HP:0001061 | Acne | 0 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | HP:0040283 - Occasional | | | 95 | | |
HP:0001061 | HP:0001061 | Acne | 0 | AR CL E G H | 367 | 644 | ORPHA:99429 | Complete androgen insensitivity syndrome | HP:0040284 - Very rare | | | 125 | | |
HP:0001061 | HP:0001061 | Acne | 0 | ARMC5 CL E G H | 79798 | 25781 | ORPHA:189427 | Cushing syndrome due to macronodular adrenal hyperplasia | | | | 7 | | |
HP:0001061 | HP:0001061 | Acne | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001061 | HP:0001061 | Acne | 0 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 169 | | |
HP:0001061 | HP:0001061 | Acne | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 276 | | |
HP:0001061 | HP:0001061 | Acne | 0 | C4A CL E G H | 720 | 1323 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | 1 | | |
HP:0001061 | HP:0001061 | Acne | 0 | CCR1 CL E G H | 1230 | 1602 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | | | |
HP:0001061 | HP:0001061 | Acne | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 636 | | |
HP:0001061 | HP:0001061 | Acne | 0 | CLN3 CL E G H | 1201 | 2074 | ORPHA:228346 | CLN3 disease | | | | 216 | | |
HP:0001061 | HP:0001061 | Acne | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0001061 | HP:0001061 | Acne | 0 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:90795 | Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | HP:0040282 - Frequent | | | 112 | | |
HP:0001061 | HP:0001061 | Acne | 0 | ECM1 CL E G H | 1893 | 3153 | ORPHA:530 | Lipoid proteinosis | HP:0040281 - Very frequent | | | 14 | | |
HP:0001061 | HP:0001061 | Acne | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:758 | Pseudoxanthoma elasticum | HP:0040283 - Occasional | | | 151 | | |
HP:0001061 | HP:0001061 | Acne | 0 | ERAP1 CL E G H | 51752 | 18173 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | 1 | | |
HP:0001061 | HP:0001061 | Acne | 0 | ESR1 CL E G H | 2099 | 3467 | OMIM:615363 | Estrogen resistance | . | | | 13 | | |
HP:0001061 | HP:0001061 | Acne | 0 | ESR1 CL E G H | 2099 | 3467 | ORPHA:785 | Estrogen resistance syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0001061 | HP:0001061 | Acne | 0 | FAS CL E G H | 355 | 11920 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | 59 | | |
HP:0001061 | HP:0001061 | Acne | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101200 | Apert syndrome | . | | | 175 | | |
HP:0001061 | HP:0001061 | Acne | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0001061 | HP:0001061 | Acne | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0001061 | HP:0001061 | Acne | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:189427 | Cushing syndrome due to macronodular adrenal hyperplasia | | | | 101 | | |
HP:0001061 | HP:0001061 | Acne | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0001061 | HP:0001061 | Acne | 0 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | HP:0040283 - Occasional | | | 5 | | |
HP:0001061 | HP:0001061 | Acne | 0 | H6PD CL E G H | 9563 | 4795 | OMIM:604931 | Cortisone reductase deficiency 1 | . | | | 8 | | |
HP:0001061 | HP:0001061 | Acne | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0001061 | HP:0001061 | Acne | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | 4 | | |
HP:0001061 | HP:0001061 | Acne | 0 | HPGD CL E G H | 3248 | 5154 | ORPHA:2796 | Pachydermoperiostosis | HP:0040282 - Frequent | | | 55 | | |
HP:0001061 | HP:0001061 | Acne | 0 | HYOU1 CL E G H | 10525 | 16931 | OMIM:233600 | Immunodeficiency 59 and hypoglycemia | | | | | | |
HP:0001061 | HP:0001061 | Acne | 0 | IFNGR1 CL E G H | 3459 | 5439 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | 60 | | |
HP:0001061 | HP:0001061 | Acne | 0 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0001061 | HP:0001061 | Acne | 0 | IL10 CL E G H | 3586 | 5962 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | 2 | | |
HP:0001061 | HP:0001061 | Acne | 0 | IL12A CL E G H | 3592 | 5969 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | | | |
HP:0001061 | HP:0001061 | Acne | 0 | IL12A-AS1 CL E G H | 101928376 | 49094 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | | | |
HP:0001061 | HP:0001061 | Acne | 0 | IL23R CL E G H | 149233 | 19100 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | 1 | | |
HP:0001061 | HP:0001061 | Acne | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0001061 | HP:0001061 | Acne | 0 | KDF1 CL E G H | 126695 | 26624 | OMIM:617337 | Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type | | | | 1 | | |
HP:0001061 | HP:0001061 | Acne | 0 | KLRC4 CL E G H | 8302 | 6377 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | | | |
HP:0001061 | HP:0001061 | Acne | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79145 | Dowling-Degos disease | | | | 173 | | |
HP:0001061 | HP:0001061 | Acne | 0 | LHCGR CL E G H | 3973 | 6585 | ORPHA:3000 | Familial male-limited precocious puberty | HP:0040282 - Frequent | | | 67 | | |
HP:0001061 | HP:0001061 | Acne | 0 | LPIN2 CL E G H | 9663 | 14450 | ORPHA:77297 | Majeed syndrome | HP:0040282 - Frequent | | | 186 | | |
HP:0001061 | HP:0001061 | Acne | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | 281 | | |
HP:0001061 | HP:0001061 | Acne | 0 | MEFV CL E G H | 4210 | 6998 | OMIM:608068 | NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE | | | | 281 | | |
HP:0001061 | HP:0001061 | Acne | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:3243 | Sweet syndrome | HP:0040282 - Frequent | | | 281 | | |
HP:0001061 | HP:0001061 | Acne | 0 | MEIS2 CL E G H | 4212 | 7001 | ORPHA:261190 | 15q14 microdeletion syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0001061 | HP:0001061 | Acne | 0 | NCSTN CL E G H | 23385 | 17091 | OMIM:142690 | Acne inversa, familial | | | | 5 | | |
HP:0001061 | HP:0001061 | Acne | 0 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 79 | | |
HP:0001061 | HP:0001061 | Acne | 0 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:786 | Generalized glucocorticoid resistance syndrome | HP:0040282 - Frequent | | | 79 | | |
HP:0001061 | HP:0001061 | Acne | 0 | PAPSS2 CL E G H | 9060 | 8604 | OMIM:612847 | Brachyolmia 4 with mild epiphyseal and metaphyseal changes | . | | | 20 | | |
HP:0001061 | HP:0001061 | Acne | 0 | PDE11A CL E G H | 50940 | 8773 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 13 | | |
HP:0001061 | HP:0001061 | Acne | 0 | PDE8B CL E G H | 8622 | 8794 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 75 | | |
HP:0001061 | HP:0001061 | Acne | 0 | POFUT1 CL E G H | 23509 | 14988 | ORPHA:79145 | Dowling-Degos disease | | | | 2 | | |
HP:0001061 | HP:0001061 | Acne | 0 | POGLUT1 CL E G H | 56983 | 22954 | ORPHA:79145 | Dowling-Degos disease | | | | 6 | | |
HP:0001061 | HP:0001061 | Acne | 0 | PRKACA CL E G H | 5566 | 9380 | OMIM:615830 | Pigmented nodular adrenocortical disease, primary, 4 | . | | | 2 | | |
HP:0001061 | HP:0001061 | Acne | 0 | PRKACA CL E G H | 5566 | 9380 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 2 | | |
HP:0001061 | HP:0001061 | Acne | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 134 | | |
HP:0001061 | HP:0001061 | Acne | 0 | PSEN1 CL E G H | 5663 | 9508 | OMIM:613737 | Acne inversa, familial, 3 | | | | 241 | | |
HP:0001061 | HP:0001061 | Acne | 0 | PSENEN CL E G H | 55851 | 30100 | OMIM:613736 | Acne inversa, familial, 2, with or without dowling-degos disease | | | | 2 | | |
HP:0001061 | HP:0001061 | Acne | 0 | PSENEN CL E G H | 55851 | 30100 | ORPHA:79145 | Dowling-Degos disease | | | | 2 | | |
HP:0001061 | HP:0001061 | Acne | 0 | PSTPIP1 CL E G H | 9051 | 9580 | ORPHA:69126 | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | HP:0040281 - Very frequent | | | 96 | | |
HP:0001061 | HP:0001061 | Acne | 0 | PSTPIP1 CL E G H | 9051 | 9580 | OMIM:604416 | Pyogenic sterile arthritis, pyoderma gangrenosum, and acne | | | | 96 | | |
HP:0001061 | HP:0001061 | Acne | 0 | RBP4 CL E G H | 5950 | 9922 | OMIM:615147 | Retinal dystrophy, iris coloboma, and comedogenic acne syndrome | | | | 8 | | |
HP:0001061 | HP:0001061 | Acne | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0001061 | HP:0001061 | Acne | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0001061 | HP:0001061 | Acne | 0 | SH3PXD2B CL E G H | 285590 | 29242 | OMIM:249420 | Frank-ter Haar syndrome | . | | | 134 | | |
HP:0001061 | HP:0001061 | Acne | 0 | SH3PXD2B CL E G H | 285590 | 29242 | ORPHA:137834 | Frank-Ter Haar syndrome | HP:0040281 - Very frequent | | | 134 | | |
HP:0001061 | HP:0001061 | Acne | 0 | SLCO2A1 CL E G H | 6578 | 10955 | OMIM:167100 | Hypertrophic osteoarthropathy, primary, autosomal dominant | | | | 13 | | |
HP:0001061 | HP:0001061 | Acne | 0 | SLCO2A1 CL E G H | 6578 | 10955 | OMIM:614441 | Hypertrophic osteoarthropathy, primary, autosomal recessive 2 | | | | 13 | | |
HP:0001061 | HP:0001061 | Acne | 0 | SLCO2A1 CL E G H | 6578 | 10955 | ORPHA:2796 | Pachydermoperiostosis | HP:0040282 - Frequent | | | 13 | | |
HP:0001061 | HP:0001061 | Acne | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | 2 | | |
HP:0001061 | HP:0001061 | Acne | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 32 | | |
HP:0001061 | HP:0001061 | Acne | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | | | | 32 | | |
HP:0001061 | HP:0001061 | Acne | 0 | TLR4 CL E G H | 7099 | 11850 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | 3 | | |
HP:0001061 | HP:0001061 | Acne | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 911 | | |
HP:0001061 | HP:0001061 | Acne | 0 | UBAC2 CL E G H | 337867 | 20486 | ORPHA:117 | Behçet disease | HP:0040282 - Frequent | | | | | |
HP:0001061 | HP:0001061 | Acne | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0001061 | HP:0001061 | Acne | 0 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 1 | | |
HP:0001061 | HP:0001061 | Acne | 0 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | HP:0040282 - Frequent | | | 7 | | |
HP:0001061 | HP:0001061 | Acne | 0 | WNT4 CL E G H | 54361 | 12783 | ORPHA:247768 | Müllerian aplasia and hyperandrogenism | HP:0040281 - Very frequent | | | 4 | | |
HP:0001061 | HP:0001061 | Acne | 0 | WNT4 CL E G H | 54361 | 12783 | OMIM:158330 | Mullerian aplasia and hyperandrogenism | HP:0040282 - Frequent | | | 4 | | |
HP:0001061 | HP:0001061 | Acne | 0 | XIAP CL E G H | 331 | 592 | OMIM:300635 | Lymphoproliferative syndrome, X-linked, 2 | . | | | 81 | | |
HP:0001061 | HP:0001061 | Acne | 0 | XYLT1 CL E G H | 64131 | 15516 | ORPHA:370930 | XYLT1-CDG | HP:0040282 - Frequent | | | 14 | | |
HP:0001061 | HP:0040154 | Acne inversa | 1 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0001061 | HP:0040154 | Acne inversa | 1 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0001061 | HP:0040154 | Acne inversa | 1 | HYOU1 CL E G H | 10525 | 16931 | OMIM:233600 | Immunodeficiency 59 and hypoglycemia | . | | | | | |
HP:0001061 | HP:0040154 | Acne inversa | 1 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0001061 | HP:0040154 | Acne inversa | 1 | KDF1 CL E G H | 126695 | 26624 | OMIM:617337 | Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type | . | | | 1 | | |
HP:0001061 | HP:0040154 | Acne inversa | 1 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79145 | Dowling-Degos disease | HP:0040283 - Occasional | | | 173 | | |
HP:0001061 | HP:0033188 | Cystic acne | 1 | MEFV CL E G H | 4210 | 6998 | OMIM:608068 | NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE | | | | 281 | | |
HP:0001061 | HP:0040154 | Acne inversa | 1 | MEFV CL E G H | 4210 | 6998 | OMIM:608068 | NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE | | | | 281 | | |
HP:0001061 | HP:0040154 | Acne inversa | 1 | MEFV CL E G H | 4210 | 6998 | ORPHA:3243 | Sweet syndrome | HP:0040283 - Occasional | | | 281 | | |
HP:0001061 | HP:0040154 | Acne inversa | 1 | NCSTN CL E G H | 23385 | 17091 | OMIM:142690 | Acne inversa, familial | . | | | 5 | | |
HP:0001061 | HP:0040154 | Acne inversa | 1 | POFUT1 CL E G H | 23509 | 14988 | ORPHA:79145 | Dowling-Degos disease | HP:0040283 - Occasional | | | 2 | | |
HP:0001061 | HP:0040154 | Acne inversa | 1 | POGLUT1 CL E G H | 56983 | 22954 | ORPHA:79145 | Dowling-Degos disease | HP:0040283 - Occasional | | | 6 | | |
HP:0001061 | HP:0040154 | Acne inversa | 1 | PSEN1 CL E G H | 5663 | 9508 | OMIM:613737 | Acne inversa, familial, 3 | | | | 241 | | |
HP:0001061 | HP:0040154 | Acne inversa | 1 | PSENEN CL E G H | 55851 | 30100 | OMIM:613736 | Acne inversa, familial, 2, with or without dowling-degos disease | . | | | 2 | | |
HP:0001061 | HP:0040154 | Acne inversa | 1 | PSENEN CL E G H | 55851 | 30100 | ORPHA:79145 | Dowling-Degos disease | HP:0040283 - Occasional | | | 2 | | |
HP:0001061 | HP:0033188 | Cystic acne | 1 | PSTPIP1 CL E G H | 9051 | 9580 | OMIM:604416 | Pyogenic sterile arthritis, pyoderma gangrenosum, and acne | | | | 96 | | |
HP:0001061 | HP:0040137 | Comedonal acne | 1 | RBP4 CL E G H | 5950 | 9922 | OMIM:615147 | Retinal dystrophy, iris coloboma, and comedogenic acne syndrome | . | | | 8 | | |