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:0000410 | HP:0000410 | Mixed hearing impairment | 0 | ABCC6 CL E G H | 368 | 57 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040283 - Occasional | | | 415 | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | AFF4 CL E G H | 27125 | 17869 | ORPHA:444077 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | AMMECR1 CL E G H | 9949 | 467 | OMIM:300990 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | . | | | 2 | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | ANKH CL E G H | 56172 | 15492 | OMIM:123000 | Craniometaphyseal dysplasia, autosomal dominant | . | | | 164 | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | HP:0040282 - Frequent | | | | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 38 | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | CDH11 CL E G H | 1009 | 1750 | ORPHA:1299 | Branchioskeletogenital syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | CDK5RAP2 CL E G H | 55755 | 18672 | OMIM:604804 | Microcephaly 3, primary, autosomal recessive | | | | 181 | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | . | | | 515 | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | COL11A2 CL E G H | 1302 | 2187 | OMIM:215150 | Otospondylomegaepiphyseal dysplasia | . | | | 222 | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | DVL1 CL E G H | 1855 | 3084 | OMIM:616331 | Robinow syndrome, autosomal dominant 2 | | | | 14 | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | ELMOD3 CL E G H | 84173 | 26158 | OMIM:615429 | DEAFNESS, AUTOSOMAL RECESSIVE 88; DFNB88 | | | | 1 | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040283 - Occasional | | | 151 | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | EYA1 CL E G H | 2138 | 3519 | OMIM:602588 | Branchiootic syndrome 1 | . | | | 135 | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | EYA1 CL E G H | 2138 | 3519 | OMIM:113650 | Branchiootorenal syndrome 1 | | | | 135 | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | EYA1 CL E G H | 2138 | 3519 | OMIM:166780 | Otofaciocervical syndrome | | | | 135 | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | FAM20C CL E G H | 56975 | 22140 | OMIM:259775 | Raine syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | FBXW7 CL E G H | 55294 | 16712 | OMIM:620012 | | | | | 22 | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | FGF10 CL E G H | 2255 | 3666 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 17 | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 175 | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 145 | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | FKBP14 CL E G H | 55033 | 18625 | OMIM:614557 | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | HP:0040284 - Very rare | | | 13 | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:1826 | Frontometaphyseal dysplasia | HP:0040283 - Occasional | | | 493 | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:272460 | Spondylocarpotarsal synostosis syndrome | . | | | 233 | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | GDF6 CL E G H | 392255 | 4221 | OMIM:118100 | Klippel-Feil syndrome 1, autosomal dominant | | | | 64 | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:218400 | Craniometaphyseal dysplasia, autosomal recessive | . | | | 68 | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:304400 | Deafness, X-linked 2 | | | | 199 | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:2698 | Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome | | | | 199 | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | GJB6 CL E G H | 10804 | 4288 | OMIM:304400 | Deafness, X-linked 2 | | | | 56 | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | HOXA2 CL E G H | 3199 | 5103 | OMIM:612290 | MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE | | | | 21 | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | IGBP1 CL E G H | 3476 | 5461 | OMIM:300472 | CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA | | | | 5 | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309288 | Alpha-mannosidosis, adult form | HP:0040283 - Occasional | | | 136 | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | HP:0040282 - Frequent | | | 136 | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | MAP3K7 CL E G H | 6885 | 6859 | ORPHA:1826 | Frontometaphyseal dysplasia | HP:0040283 - Occasional | | | 11 | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | PAX1 CL E G H | 5075 | 8615 | OMIM:615560 | Otofaciocervical syndrome 2 | | | | 3 | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | POU3F4 CL E G H | 5456 | 9217 | OMIM:304400 | Deafness, X-linked 2 | | | | 40 | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | RPS28 CL E G H | 6234 | 10418 | OMIM:606164 | Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | . | | | 1 | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | SGMS2 CL E G H | 166929 | 28395 | OMIM:126550 | Calvarial doughnut lesions with bone fragility | HP:0040284 - Very rare | | | | | |
HP:0000410 | HP:0000410 | Mixed hearing impairment | 0 | SIX1 CL E G H | 6495 | 10887 | OMIM:113650 | Branchiootorenal syndrome 1 | | | | 50 | | |