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:0000654 | HP:0000654 | Decreased light- and dark-adapted electroretinogram amplitude | 0 | ACOX1 CL E G H | 51 | 119 | OMIM:264470 | Peroxisomal acyl-coa oxidase deficiency | . | | | 120 | | |
HP:0000654 | HP:0000654 | Decreased light- and dark-adapted electroretinogram amplitude | 0 | ALG3 CL E G H | 10195 | 23056 | OMIM:601110 | Congenital disorder of glycosylation, type Id | . | | | 37 | | |
HP:0000654 | HP:0000654 | Decreased light- and dark-adapted electroretinogram amplitude | 0 | BEST1 CL E G H | 7439 | 12703 | OMIM:611809 | BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB | | | | 182 | | |
HP:0000654 | HP:0000654 | Decreased light- and dark-adapted electroretinogram amplitude | 0 | CYP4V2 CL E G H | 285440 | 23198 | ORPHA:41751 | Bietti crystalline dystrophy | HP:0040282 - Frequent | | | 126 | | |
HP:0000654 | HP:0000654 | Decreased light- and dark-adapted electroretinogram amplitude | 0 | GUCY2D CL E G H | 3000 | 4689 | OMIM:204000 | Leber congenital amaurosis, type I | . | | | 124 | | |
HP:0000654 | HP:0000654 | Decreased light- and dark-adapted electroretinogram amplitude | 0 | IDH3B CL E G H | 3420 | 5385 | OMIM:612572 | RETINITIS PIGMENTOSA 46; RP46 | | | | 30 | | |
HP:0000654 | HP:0000654 | Decreased light- and dark-adapted electroretinogram amplitude | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217093 | Mucopolysaccharidosis type 2, attenuated form | HP:0040283 - Occasional | | | 86 | | |
HP:0000654 | HP:0000654 | Decreased light- and dark-adapted electroretinogram amplitude | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217085 | Mucopolysaccharidosis type 2, severe form | HP:0040283 - Occasional | | | 86 | | |
HP:0000654 | HP:0000654 | Decreased light- and dark-adapted electroretinogram amplitude | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:608840 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 | . | | | 136 | | |
HP:0000654 | HP:0000654 | Decreased light- and dark-adapted electroretinogram amplitude | 0 | LRAT CL E G H | 9227 | 6685 | OMIM:613341 | Leber congenital amaurosis 14 | . | | | 62 | | |
HP:0000654 | HP:0000654 | Decreased light- and dark-adapted electroretinogram amplitude | 0 | MCOLN1 CL E G H | 57192 | 13356 | OMIM:252650 | Mucolipidosis IV | . | | | 78 | | |
HP:0000654 | HP:0000654 | Decreased light- and dark-adapted electroretinogram amplitude | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:253280 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | . | | | 180 | | |
HP:0000654 | HP:0000654 | Decreased light- and dark-adapted electroretinogram amplitude | 0 | PPT1 CL E G H | 5538 | 9325 | OMIM:256730 | Ceroid lipofuscinosis, neuronal, 1 | . | | | 172 | | |
HP:0000654 | HP:0000654 | Decreased light- and dark-adapted electroretinogram amplitude | 0 | RGR CL E G H | 5995 | 9990 | OMIM:613769 | RETINITIS PIGMENTOSA 44; RP44 | | | | 28 | | |
HP:0000654 | HP:0000654 | Decreased light- and dark-adapted electroretinogram amplitude | 0 | RHO CL E G H | 6010 | 10012 | OMIM:610445 | Night blindness, congenital stationary, autosomal dominant 1 | . | | | 107 | | |
HP:0000654 | HP:0000654 | Decreased light- and dark-adapted electroretinogram amplitude | 0 | SAG CL E G H | 6295 | 10521 | OMIM:613758 | RETINITIS PIGMENTOSA 47; RP47 | | | | 32 | | |
HP:0000654 | HP:0000654 | Decreased light- and dark-adapted electroretinogram amplitude | 0 | USP45 CL E G H | 85015 | 20080 | OMIM:618513 | LEBER CONGENITAL AMAUROSIS 19; LCA19 | | | | | | |