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:0002267 | HP:0002267 | Exaggerated startle response | 0 | ARHGEF9 CL E G H | 23229 | 14561 | OMIM:300607 | Epileptic encephalopathy, early infantile, 8 | . | | | 45 | | |
HP:0002267 | HP:0002267 | Exaggerated startle response | 0 | ARHGEF9 CL E G H | 23229 | 14561 | ORPHA:163985 | Hyperekplexia-epilepsy syndrome | HP:0040282 - Frequent | | | 45 | | |
HP:0002267 | HP:0002267 | Exaggerated startle response | 0 | ASNS CL E G H | 440 | 753 | OMIM:615574 | Asparagine synthetase deficiency | . | | | 17 | | |
HP:0002267 | HP:0002267 | Exaggerated startle response | 0 | DDC CL E G H | 1644 | 2719 | OMIM:608643 | Aromatic L-amino acid decarboxylase deficiency | | | | 43 | | |
HP:0002267 | HP:0002267 | Exaggerated startle response | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:253800 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 | HP:0040283 - Occasional | | | 184 | | |
HP:0002267 | HP:0002267 | Exaggerated startle response | 0 | FLRT1 CL E G H | 23769 | 3760 | ORPHA:320406 | Spastic paraplegia-optic atrophy-neuropathy syndrome | HP:0040282 - Frequent | | | | | |
HP:0002267 | HP:0002267 | Exaggerated startle response | 0 | GLB1 CL E G H | 2720 | 4298 | ORPHA:79255 | GM1 gangliosidosis type 1 | HP:0040282 - Frequent | | | 120 | | |
HP:0002267 | HP:0002267 | Exaggerated startle response | 0 | GLRA1 CL E G H | 2741 | 4326 | OMIM:149400 | Hyperekplexia 1 | . | | | 63 | | |
HP:0002267 | HP:0002267 | Exaggerated startle response | 0 | GLRB CL E G H | 2743 | 4329 | OMIM:614619 | Hyperekplexia 2 | . | | | 46 | | |
HP:0002267 | HP:0002267 | Exaggerated startle response | 0 | GM2A CL E G H | 2760 | 4367 | ORPHA:309246 | GM2 gangliosidosis, AB variant | HP:0040281 - Very frequent | | | 69 | | |
HP:0002267 | HP:0002267 | Exaggerated startle response | 0 | GM2A CL E G H | 2760 | 4367 | OMIM:272750 | Gm2-Gangliosidosis, ab variant | . | | | 69 | | |
HP:0002267 | HP:0002267 | Exaggerated startle response | 0 | GPHN CL E G H | 10243 | 15465 | OMIM:149400 | Hyperekplexia 1 | . | | | 18 | | |
HP:0002267 | HP:0002267 | Exaggerated startle response | 0 | HEXB CL E G H | 3074 | 4879 | OMIM:268800 | Sandhoff disease | | | | 80 | | |
HP:0002267 | HP:0002267 | Exaggerated startle response | 0 | HEXB CL E G H | 3074 | 4879 | ORPHA:309155 | Sandhoff disease, infantile form | | | | 80 | | |
HP:0002267 | HP:0002267 | Exaggerated startle response | 0 | KLC2 CL E G H | 64837 | 20716 | OMIM:609541 | Spastic paraplegia, optic atrophy, and neuropathy | . | | | 1 | | |
HP:0002267 | HP:0002267 | Exaggerated startle response | 0 | KLC2 CL E G H | 64837 | 20716 | ORPHA:320406 | Spastic paraplegia-optic atrophy-neuropathy syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0002267 | HP:0002267 | Exaggerated startle response | 0 | MTHFS CL E G H | 10588 | 7437 | OMIM:618367 | Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination | . | | | | | |
HP:0002267 | HP:0002267 | Exaggerated startle response | 0 | PLAA CL E G H | 9373 | 9043 | OMIM:617527 | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | | | | 3 | | |
HP:0002267 | HP:0002267 | Exaggerated startle response | 0 | PLAA CL E G H | 9373 | 9043 | ORPHA:521426 | PLAA-associated neurodevelopmental disorder | HP:0040282 - Frequent | | | 3 | | |
HP:0002267 | HP:0002267 | Exaggerated startle response | 0 | PURA CL E G H | 5813 | 9701 | ORPHA:438216 | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation | HP:0040283 - Occasional | | | 53 | | |
HP:0002267 | HP:0002267 | Exaggerated startle response | 0 | SLC6A5 CL E G H | 9152 | 11051 | OMIM:614618 | Hyperekplexia 3 | . | | | 81 | | |
HP:0002267 | HP:0002267 | Exaggerated startle response | 0 | SLC6A9 CL E G H | 6536 | 11056 | OMIM:617301 | Glycine encephalopathy with normal serum glycine | . | | | 4 | | |
HP:0002267 | HP:0002267 | Exaggerated startle response | 0 | SOD1 CL E G H | 6647 | 11179 | OMIM:618598 | SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP | | | | 53 | | |
HP:0002267 | HP:0002267 | Exaggerated startle response | 0 | TNIK CL E G H | 23043 | 30765 | OMIM:617028 | Mental retardation, autosomal recessive 54 | | | | 2 | | |
HP:0002267 | HP:0002267 | Exaggerated startle response | 0 | TRAK1 CL E G H | 22906 | 29947 | OMIM:618201 | Epileptic encephalopathy, early infantile, 68 | . | | | | | |
HP:0002267 | HP:0002267 | Exaggerated startle response | 0 | TSPYL1 CL E G H | 7259 | 12382 | OMIM:608800 | Sudden infant death with dysgenesis of the testes syndrome | | | | 1 | | |
HP:0002267 | HP:0002267 | Exaggerated startle response | 0 | ZMYM2 CL E G H | 7750 | 12989 | OMIM:619522 | NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC | | | | | | |