Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0040121 | HP:0040121 | Abnormality of the acoustic reflex | 0 | DIAPH3 CL E G H | 81624 | 15480 | OMIM:609129 | Auditory neuropathy, autosomal dominant, 1 | | | | 8 | | |
HP:0040121 | HP:0040121 | Abnormality of the acoustic reflex | 0 | MPDU1 CL E G H | 9526 | 7207 | ORPHA:79323 | MPDU1-CDG | | | | 32 | | |
HP:0040121 | HP:0040121 | Abnormality of the acoustic reflex | 0 | OTOF CL E G H | 9381 | 8515 | OMIM:601071 | Deafness, autosomal recessive 9 | | | | 383 | | |
HP:0040121 | HP:0040121 | Abnormality of the acoustic reflex | 0 | PRORP CL E G H | 9692 | 19958 | OMIM:619737 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54 | | | | | | |
HP:0040121 | HP:0040122 | Impairment of the the acoustic reflex | 1 | CL E G H | | | | | | | | | | |
HP:0040121 | HP:0008529 | Absence of acoustic reflex | 1 | DIAPH3 CL E G H | 81624 | 15480 | OMIM:609129 | Auditory neuropathy, autosomal dominant, 1 | . | | | 8 | | |
HP:0040121 | HP:0008529 | Absence of acoustic reflex | 1 | MPDU1 CL E G H | 9526 | 7207 | ORPHA:79323 | MPDU1-CDG | | | | 32 | | |
HP:0040121 | HP:0008529 | Absence of acoustic reflex | 1 | OTOF CL E G H | 9381 | 8515 | OMIM:601071 | Deafness, autosomal recessive 9 | . | | | 383 | | |
HP:0040121 | HP:0008529 | Absence of acoustic reflex | 1 | PRORP CL E G H | 9692 | 19958 | OMIM:619737 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54 | | | | | | |