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:0005943 | HP:0005943 | Respiratory arrest | 0 | ACADVL CL E G H | 37 | 92 | OMIM:201475 | Very long-chain acyl-CoA dehydrogenase deficiency | | | | 200 | | |
HP:0005943 | HP:0005943 | Respiratory arrest | 0 | AFF3 CL E G H | 3899 | 6473 | OMIM:619297 | KINSSHIP SYNDROME; KINS | | | | 1 | | |
HP:0005943 | HP:0005943 | Respiratory arrest | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 127 | | |
HP:0005943 | HP:0005943 | Respiratory arrest | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:93359 | Spondyloepimetaphyseal dysplasia with joint laxity | | | | 38 | | |
HP:0005943 | HP:0005943 | Respiratory arrest | 0 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 65 | | |
HP:0005943 | HP:0005943 | Respiratory arrest | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 6 | | |
HP:0005943 | HP:0005943 | Respiratory arrest | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93296 | Achondrogenesis type 2 | | | | 284 | | |
HP:0005943 | HP:0005943 | Respiratory arrest | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:600649 | Carnitine palmitoyltransferase II deficiency, infantile | | | | 101 | | |
HP:0005943 | HP:0005943 | Respiratory arrest | 0 | DCTN1 CL E G H | 1639 | 2711 | OMIM:168605 | Perry syndrome | | | | 86 | | |
HP:0005943 | HP:0005943 | Respiratory arrest | 0 | DDC CL E G H | 1644 | 2719 | OMIM:608643 | Aromatic L-amino acid decarboxylase deficiency | | | | 43 | | |
HP:0005943 | HP:0005943 | Respiratory arrest | 0 | EXOC6B CL E G H | 23233 | 17085 | ORPHA:93359 | Spondyloepimetaphyseal dysplasia with joint laxity | | | | 3 | | |
HP:0005943 | HP:0005943 | Respiratory arrest | 0 | GPX4 CL E G H | 2879 | 4556 | ORPHA:93317 | Spondylometaphyseal dysplasia, Sedaghatian type | | | | 3 | | |
HP:0005943 | HP:0005943 | Respiratory arrest | 0 | HTRA2 CL E G H | 27429 | 14348 | OMIM:617248 | 3-methylglutaconic aciduria, type VIII | | | | 39 | | |
HP:0005943 | HP:0005943 | Respiratory arrest | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:280785 | Bullous diffuse cutaneous mastocytosis | | | | 327 | | |
HP:0005943 | HP:0005943 | Respiratory arrest | 0 | LAMP2 CL E G H | 3920 | 6501 | ORPHA:34587 | Glycogen storage disease due to LAMP-2 deficiency | | | | 211 | | |
HP:0005943 | HP:0005943 | Respiratory arrest | 0 | MYL2 CL E G H | 4633 | 7583 | OMIM:619424 | MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12 | | | | 131 | | |
HP:0005943 | HP:0005943 | Respiratory arrest | 0 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | | | |
HP:0005943 | HP:0005943 | Respiratory arrest | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 2 | | |
HP:0005943 | HP:0005943 | Respiratory arrest | 0 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 28 | | |
HP:0005943 | HP:0005943 | Respiratory arrest | 0 | SLC25A20 CL E G H | 788 | 1421 | OMIM:212138 | Carnitine-acylcarnitine translocase deficiency | | | | 40 | | |
HP:0005943 | HP:0005943 | Respiratory arrest | 0 | SLC2A10 CL E G H | 81031 | 13444 | ORPHA:3342 | Arterial tortuosity syndrome | | | | 178 | | |
HP:0005943 | HP:0005943 | Respiratory arrest | 0 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 9 | | |
HP:0005943 | HP:0005943 | Respiratory arrest | 0 | SLC6A5 CL E G H | 9152 | 11051 | OMIM:614618 | Hyperekplexia 3 | | | | 81 | | |
HP:0005943 | HP:0005943 | Respiratory arrest | 0 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 2 | | |
HP:0005943 | HP:0005943 | Respiratory arrest | 0 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 4 | | |
HP:0005943 | HP:0005943 | Respiratory arrest | 0 | TSPYL1 CL E G H | 7259 | 12382 | OMIM:608800 | Sudden infant death with dysgenesis of the testes syndrome | | | | 1 | | |
HP:0005943 | HP:0005943 | Respiratory arrest | 0 | TXNDC15 CL E G H | 79770 | 20652 | OMIM:619879 | | | | | 2 | | |
HP:0005943 | HP:0005943 | Respiratory arrest | 0 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 2 | | |
HP:0005943 | HP:0006543 | Cardiorespiratory arrest | 1 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:93359 | Spondyloepimetaphyseal dysplasia with joint laxity | HP:0040283 - Occasional | | | 38 | | |
HP:0005943 | HP:0006543 | Cardiorespiratory arrest | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93296 | Achondrogenesis type 2 | HP:0040283 - Occasional | | | 284 | | |
HP:0005943 | HP:0006543 | Cardiorespiratory arrest | 1 | DDC CL E G H | 1644 | 2719 | OMIM:608643 | Aromatic L-amino acid decarboxylase deficiency | | | | 43 | | |
HP:0005943 | HP:0006543 | Cardiorespiratory arrest | 1 | EXOC6B CL E G H | 23233 | 17085 | ORPHA:93359 | Spondyloepimetaphyseal dysplasia with joint laxity | HP:0040283 - Occasional | | | 3 | | |
HP:0005943 | HP:0006543 | Cardiorespiratory arrest | 1 | GPX4 CL E G H | 2879 | 4556 | ORPHA:93317 | Spondylometaphyseal dysplasia, Sedaghatian type | HP:0040281 - Very frequent | | | 3 | | |
HP:0005943 | HP:0006543 | Cardiorespiratory arrest | 1 | KIT CL E G H | 3815 | 6342 | ORPHA:280785 | Bullous diffuse cutaneous mastocytosis | HP:0040283 - Occasional | | | 327 | | |
HP:0005943 | HP:0006543 | Cardiorespiratory arrest | 1 | LAMP2 CL E G H | 3920 | 6501 | ORPHA:34587 | Glycogen storage disease due to LAMP-2 deficiency | HP:0040281 - Very frequent | | | 211 | | |
HP:0005943 | HP:0006543 | Cardiorespiratory arrest | 1 | MYL2 CL E G H | 4633 | 7583 | OMIM:619424 | MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12 | | | | 131 | | |
HP:0005943 | HP:0006543 | Cardiorespiratory arrest | 1 | SLC25A20 CL E G H | 788 | 1421 | OMIM:212138 | Carnitine-acylcarnitine translocase deficiency | . | | | 40 | | |
HP:0005943 | HP:0006543 | Cardiorespiratory arrest | 1 | SLC2A10 CL E G H | 81031 | 13444 | ORPHA:3342 | Arterial tortuosity syndrome | HP:0040283 - Occasional | | | 178 | | |
HP:0005943 | HP:0006543 | Cardiorespiratory arrest | 1 | TSPYL1 CL E G H | 7259 | 12382 | OMIM:608800 | Sudden infant death with dysgenesis of the testes syndrome | . | HP:0003593 - Infantile onset | | 1 | | |
HP:0005943 | HP:0006543 | Cardiorespiratory arrest | 1 | TXNDC15 CL E G H | 79770 | 20652 | OMIM:619879 | | | | | 2 | | |