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:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | ACTG1 CL E G H | 71 | 144 | OMIM:604717 | Deafness, autosomal dominant 20 | . | | | 123 | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040281 - Very frequent | | | 404 | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | . | | | 404 | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | ARSG CL E G H | 22901 | 24102 | OMIM:618144 | USHER SYNDROME, TYPE IV; USH4 | | | | | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | ATP1A3 CL E G H | 478 | 801 | OMIM:601338 | Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss | . | | | 150 | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | COX1 CL E G H | 4512 | 7419 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | COX2 CL E G H | 4513 | 7421 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | COX3 CL E G H | 4514 | 7422 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | CYTB CL E G H | 4519 | 7427 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | FGF3 CL E G H | 2248 | 3681 | ORPHA:2791 | Otodental syndrome | HP:0040281 - Very frequent | | | 18 | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | GATA3 CL E G H | 2625 | 4172 | ORPHA:2237 | Hypoparathyroidism-sensorineural deafness-renal disease syndrome | HP:0040280 - Obligate | | | 83 | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | GFER CL E G H | 2671 | 4236 | ORPHA:330054 | Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | GIPC1 CL E G H | 10755 | 1226 | ORPHA:98897 | Oculopharyngodistal myopathy | HP:0040283 - Occasional | | | | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:304400 | Deafness, X-linked 2 | . | | | 199 | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | GJB6 CL E G H | 10804 | 4288 | OMIM:304400 | Deafness, X-linked 2 | . | | | 56 | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | GRXCR1 CL E G H | 389207 | 31673 | OMIM:613285 | Deafness, autosomal recessive 25 | | | | 36 | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | GSDME CL E G H | 1687 | 2810 | OMIM:600994 | Deafness, autosomal dominant nonsyndromic sensorineural 5 | . | | | 87 | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | IARS2 CL E G H | 55699 | 29685 | ORPHA:436174 | Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | HP:0040281 - Very frequent | | | 25 | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | LARS2 CL E G H | 23395 | 17095 | OMIM:615300 | Perrault syndrome 4 | | | | 54 | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | MCM2 CL E G H | 4171 | 6944 | OMIM:616968 | Deafness, autosomal dominant 70 | | | | 1 | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | MIR96 CL E G H | 407053 | 31648 | OMIM:613074 | Deafness, autosomal dominant 50 | . | | | 4 | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:607736 | Charcot-Marie-Tooth disease, type 2J | . | | | 134 | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | MPZL2 CL E G H | 10205 | 3496 | OMIM:618145 | Deafness, autosomal recessive 111 | . | | | | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | MYH14 CL E G H | 79784 | 23212 | OMIM:600652 | Deafness, autosomal dominant nonsyndromic sensorineural 4 | . | | | 227 | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | MYO3A CL E G H | 53904 | 7601 | OMIM:607101 | Deafness, autosomal recessive 30 | . | | | 168 | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | MYO6 CL E G H | 4646 | 7605 | OMIM:606346 | Deafness, autosomal dominant 22 | . | | | 179 | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | ND1 CL E G H | 4535 | 7455 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | ND5 CL E G H | 4540 | 7461 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | ND6 CL E G H | 4541 | 7462 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:607115 | CINCA SYNDROME; CINCA | | | | 217 | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:191900 | Muckle-Wells syndrome | | | | 217 | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:575 | Muckle-Wells syndrome | HP:0040281 - Very frequent | | | 217 | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | NOTCH2NLC CL E G H | 100996717 | 53924 | ORPHA:98897 | Oculopharyngodistal myopathy | HP:0040283 - Occasional | | | | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | OPA1 CL E G H | 4976 | 8140 | OMIM:125250 | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | . | | | 214 | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | P2RX2 CL E G H | 22953 | 15459 | OMIM:608224 | Deafness, autosomal dominant 41 | . | | | 23 | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | POU3F4 CL E G H | 5456 | 9217 | OMIM:304400 | Deafness, X-linked 2 | . | | | 40 | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | SCD5 CL E G H | 79966 | 21088 | OMIM:619086 | DEAFNESS, AUTOSOMAL DOMINANT 79; DFNA79 | | | | | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | SLC30A9 CL E G H | 10463 | 1329 | OMIM:617595 | Birk-Landau-Perez syndrome | | | | 1 | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | SYNE4 CL E G H | 163183 | 26703 | OMIM:615540 | Deafness, autosomal recessive 76 | . | | | 21 | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | TIMM8A CL E G H | 1678 | 11817 | OMIM:304700 | Mohr-Tranebjaerg syndrome | . | | | 15 | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | TPRN CL E G H | 286262 | 26894 | OMIM:613307 | Deafness, autosomal recessive 79 | . | | | 32 | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | TRNC CL E G H | 4511 | 7477 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | TRNF CL E G H | 4558 | 7481 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | TRNK CL E G H | 4566 | 7489 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | TRNL1 CL E G H | 4567 | 7490 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | TRNQ CL E G H | 4572 | 7495 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | TRNS1 CL E G H | 4574 | 7497 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | TRNS2 CL E G H | 4575 | 7498 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | TRNV CL E G H | 4577 | 7500 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | TRNW CL E G H | 4578 | 7501 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0000408 | HP:0000408 | Progressive sensorineural hearing impairment | 0 | WFS1 CL E G H | 7466 | 12762 | OMIM:600965 | Deafness, autosomal dominant 6 | . | | | 389 | | |