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:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | AEBP1 CL E G H | 165 | 303 | ORPHA:536532 | Classical-like Ehlers-Danlos syndrome type 2 | | | | | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | | | | 1 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | C4A CL E G H | 720 | 1323 | ORPHA:117 | Behçet disease | | | | 1 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | CCR1 CL E G H | 1230 | 1602 | ORPHA:117 | Behçet disease | | | | | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:293381 | Epithelial recurrent erosion dystrophy | | | | 129 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | ERAP1 CL E G H | 51752 | 18173 | ORPHA:117 | Behçet disease | | | | 1 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | | | | 106 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | ERCC2 CL E G H | 2068 | 3434 | OMIM:601675 | Trichothiodystrophy 1, photosensitive | | | | 106 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | ERCC2 CL E G H | 2068 | 3434 | OMIM:278730 | Xeroderma pigmentosum, complementation group D | | | | 106 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | | | | 54 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | | | | 199 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | | | | 55 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | FAS CL E G H | 355 | 11920 | ORPHA:117 | Behçet disease | | | | 59 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:616914 | Marfan lipodystrophy syndrome | | | | 1361 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | FGF10 CL E G H | 2255 | 3666 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040284 - Very rare | | | 29 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:148210 | Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant | | | | 199 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | GSN CL E G H | 2934 | 4620 | ORPHA:85448 | AGel amyloidosis | | | | 53 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | | | | 2 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:117 | Behçet disease | | | | 4 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | | | | 2 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | HLCS CL E G H | 3141 | 4976 | ORPHA:79242 | Holocarboxylase synthetase deficiency | HP:0040281 - Very frequent | | | 148 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | IARS2 CL E G H | 55699 | 29685 | OMIM:616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | | | | 25 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | IFNGR1 CL E G H | 3459 | 5439 | ORPHA:117 | Behçet disease | | | | 60 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | IL10 CL E G H | 3586 | 5962 | ORPHA:117 | Behçet disease | | | | 2 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | IL12A CL E G H | 3592 | 5969 | ORPHA:117 | Behçet disease | | | | | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | IL12A-AS1 CL E G H | 101928376 | 49094 | ORPHA:117 | Behçet disease | | | | | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | IL23R CL E G H | 149233 | 19100 | ORPHA:117 | Behçet disease | | | | 1 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | KLRC4 CL E G H | 8302 | 6377 | ORPHA:117 | Behçet disease | | | | | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | LBR CL E G H | 3930 | 6518 | ORPHA:779 | Reynolds syndrome | | | | 70 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | MAB21L1 CL E G H | 4081 | 6757 | OMIM:618479 | Cerebellar, ocular, craniofacial, and genital syndrome | | | | | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:117 | Behçet disease | | | | 281 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | | | | 9 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | MPLKIP CL E G H | 136647 | 16002 | OMIM:234050 | Trichothiodystrophy 4, nonphotosensitive | | | | 9 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | | | | 81 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | NLRP1 CL E G H | 22861 | 14374 | OMIM:617388 | AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK | | | | 37 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | NOD2 CL E G H | 64127 | 5331 | OMIM:617321 | YAO SYNDROME; YAOS | | | | 187 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | RNF125 CL E G H | 54941 | 21150 | OMIM:616260 | Tenorio syndrome | | | | 5 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | SCN9A CL E G H | 6335 | 10597 | OMIM:133020 | Erythermalgia, primary | | | | 318 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | SREBF1 CL E G H | 6720 | 11289 | OMIM:619016 | IFAP SYNDROME 2; IFAP2 | | | | 1 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | SREBF1 CL E G H | 6720 | 11289 | OMIM:158310 | Mucoepithelial dysplasia, hereditary | . | | | 1 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:117 | Behçet disease | | | | 2 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | TLR4 CL E G H | 7099 | 11850 | ORPHA:117 | Behçet disease | | | | 3 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | UBAC2 CL E G H | 337867 | 20486 | ORPHA:117 | Behçet disease | | | | | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | UROD CL E G H | 7389 | 12591 | ORPHA:95159 | Hepatoerythropoietic porphyria | HP:0040284 - Very rare | | | 31 | | |
HP:0001096 | HP:0001096 | Keratoconjunctivitis | 0 | UROS CL E G H | 7390 | 12592 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040284 - Very rare | | | 41 | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | AEBP1 CL E G H | 165 | 303 | ORPHA:536532 | Classical-like Ehlers-Danlos syndrome type 2 | HP:0040283 - Occasional | | | | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | HP:0040283 - Occasional | | | 1 | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | C4A CL E G H | 720 | 1323 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 1 | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | CCR1 CL E G H | 1230 | 1602 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:293381 | Epithelial recurrent erosion dystrophy | HP:0040283 - Occasional | | | 129 | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | ERAP1 CL E G H | 51752 | 18173 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 1 | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 106 | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | ERCC2 CL E G H | 2068 | 3434 | OMIM:601675 | Trichothiodystrophy 1, photosensitive | HP:0040283 - Occasional | | | 106 | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | ERCC2 CL E G H | 2068 | 3434 | OMIM:278730 | Xeroderma pigmentosum, complementation group D | HP:0040283 - Occasional | | | 106 | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 54 | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040284 - Very rare | | | 199 | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040284 - Very rare | | | 55 | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | FAS CL E G H | 355 | 11920 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 59 | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | FBN1 CL E G H | 2200 | 3603 | OMIM:616914 | Marfan lipodystrophy syndrome | | | | 1361 | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | FGF10 CL E G H | 2255 | 3666 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040282 - Frequent | | | 17 | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040282 - Frequent | | | 175 | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040282 - Frequent | | | 145 | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | GJB2 CL E G H | 2706 | 4284 | OMIM:148210 | Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant | . | | | 199 | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | GSN CL E G H | 2934 | 4620 | ORPHA:85448 | AGel amyloidosis | HP:0040281 - Very frequent | | | 53 | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | HLA-B CL E G H | 3106 | 4932 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 4 | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | HP:0040283 - Occasional | | | 2 | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | IARS2 CL E G H | 55699 | 29685 | OMIM:616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | . | | | 25 | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | IFNGR1 CL E G H | 3459 | 5439 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 60 | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | IL10 CL E G H | 3586 | 5962 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 2 | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | IL12A CL E G H | 3592 | 5969 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | IL12A-AS1 CL E G H | 101928376 | 49094 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | IL23R CL E G H | 149233 | 19100 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 1 | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | KLRC4 CL E G H | 8302 | 6377 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | LBR CL E G H | 3930 | 6518 | ORPHA:779 | Reynolds syndrome | HP:0040282 - Frequent | | | 70 | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | MAB21L1 CL E G H | 4081 | 6757 | OMIM:618479 | Cerebellar, ocular, craniofacial, and genital syndrome | . | | | | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | MEFV CL E G H | 4210 | 6998 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 281 | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 9 | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | MPLKIP CL E G H | 136647 | 16002 | OMIM:234050 | Trichothiodystrophy 4, nonphotosensitive | HP:0040283 - Occasional | | | 9 | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | HP:0040284 - Very rare | | | 81 | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | NLRP1 CL E G H | 22861 | 14374 | OMIM:617388 | AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK | | | | 37 | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | NOD2 CL E G H | 64127 | 5331 | OMIM:617321 | YAO SYNDROME; YAOS | | | | 187 | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | RNF125 CL E G H | 54941 | 21150 | OMIM:616260 | Tenorio syndrome | . | | | 5 | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | SCN9A CL E G H | 6335 | 10597 | OMIM:133020 | Erythermalgia, primary | . | | | 318 | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | SREBF1 CL E G H | 6720 | 11289 | OMIM:619016 | IFAP SYNDROME 2; IFAP2 | | | | 1 | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | STAT4 CL E G H | 6775 | 11365 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 2 | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | TLR4 CL E G H | 7099 | 11850 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 3 | | |
HP:0001096 | HP:0001097 | Keratoconjunctivitis sicca | 1 | UBAC2 CL E G H | 337867 | 20486 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |