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:0004356 | HP:0004356 | Abnormality of lysosomal metabolism | 0 | ASAH1 CL E G H | 427 | 735 | OMIM:228000 | Farber lipogranulomatosis | | | | 78 | | |
HP:0004356 | HP:0004356 | Abnormality of lysosomal metabolism | 0 | CA2 CL E G H | 760 | 1373 | ORPHA:2785 | Osteopetrosis with renal tubular acidosis | | | | 29 | | |
HP:0004356 | HP:0004356 | Abnormality of lysosomal metabolism | 0 | CA2 CL E G H | 760 | 1373 | OMIM:259730 | Osteopetrosis, autosomal recessive 3 | | | | 29 | | |
HP:0004356 | HP:0004356 | Abnormality of lysosomal metabolism | 0 | CLCN7 CL E G H | 1186 | 2025 | OMIM:166600 | Osteopetrosis, autosomal dominant 2 | | | | 102 | | |
HP:0004356 | HP:0004356 | Abnormality of lysosomal metabolism | 0 | CLN6 CL E G H | 54982 | 2077 | OMIM:204300 | Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive | | | | 143 | | |
HP:0004356 | HP:0004356 | Abnormality of lysosomal metabolism | 0 | CLN8 CL E G H | 2055 | 2079 | ORPHA:1947 | Progressive epilepsy-intellectual disability syndrome, Finnish type | | | | 111 | | |
HP:0004356 | HP:0004356 | Abnormality of lysosomal metabolism | 0 | CTSD CL E G H | 1509 | 2529 | OMIM:610127 | Ceroid lipofuscinosis, neuronal, 10 | | | | 159 | | |
HP:0004356 | HP:0004356 | Abnormality of lysosomal metabolism | 0 | DNAJC5 CL E G H | 80331 | 16235 | OMIM:162350 | Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant | | | | 155 | | |
HP:0004356 | HP:0004356 | Abnormality of lysosomal metabolism | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | | | | 240 | | |
HP:0004356 | HP:0004356 | Abnormality of lysosomal metabolism | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252600 | Mucolipidosis III alpha/beta | | | | 240 | | |
HP:0004356 | HP:0004356 | Abnormality of lysosomal metabolism | 0 | NOTCH3 CL E G H | 4854 | 7883 | OMIM:125310 | Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy | | | | 144 | | |
HP:0004356 | HP:0004356 | Abnormality of lysosomal metabolism | 0 | OCRL CL E G H | 4952 | 8108 | OMIM:309000 | Lowe syndrome | | | | 88 | | |
HP:0004356 | HP:0004356 | Abnormality of lysosomal metabolism | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:610539 | Gaucher disease, atypical | | | | 81 | | |
HP:0004356 | HP:0004356 | Abnormality of lysosomal metabolism | 0 | TNFRSF11B CL E G H | 4982 | 11909 | OMIM:239000 | Paget disease of bone 5, juvenile-onset | | | | 44 | | |
HP:0004356 | HP:0040139 | Lipogranulomatosis | 1 | ASAH1 CL E G H | 427 | 735 | OMIM:228000 | Farber lipogranulomatosis | . | | | 78 | | |
HP:0004356 | HP:0003148 | Elevated serum acid phosphatase | 1 | CA2 CL E G H | 760 | 1373 | ORPHA:2785 | Osteopetrosis with renal tubular acidosis | | | | 29 | | |
HP:0004356 | HP:0003148 | Elevated serum acid phosphatase | 1 | CA2 CL E G H | 760 | 1373 | OMIM:259730 | Osteopetrosis, autosomal recessive 3 | . | | | 29 | | |
HP:0004356 | HP:0003148 | Elevated serum acid phosphatase | 1 | CLCN7 CL E G H | 1186 | 2025 | OMIM:166600 | Osteopetrosis, autosomal dominant 2 | . | | | 102 | | |
HP:0004356 | HP:0003657 | Granular osmiophilic deposits (GROD) in cells | 1 | CLN6 CL E G H | 54982 | 2077 | OMIM:204300 | Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive | . | | | 143 | | |
HP:0004356 | HP:0003657 | Granular osmiophilic deposits (GROD) in cells | 1 | CLN8 CL E G H | 2055 | 2079 | ORPHA:1947 | Progressive epilepsy-intellectual disability syndrome, Finnish type | HP:0040281 - Very frequent | | | 111 | | |
HP:0004356 | HP:0003657 | Granular osmiophilic deposits (GROD) in cells | 1 | CTSD CL E G H | 1509 | 2529 | OMIM:610127 | Ceroid lipofuscinosis, neuronal, 10 | | | | 159 | | |
HP:0004356 | HP:0003657 | Granular osmiophilic deposits (GROD) in cells | 1 | DNAJC5 CL E G H | 80331 | 16235 | OMIM:162350 | Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant | . | | | 155 | | |
HP:0004356 | HP:0003264 | Deficiency of N-acetylglucosamine-1-phosphotransferase | 1 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | . | | | 240 | | |
HP:0004356 | HP:0003264 | Deficiency of N-acetylglucosamine-1-phosphotransferase | 1 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252600 | Mucolipidosis III alpha/beta | . | | | 240 | | |
HP:0004356 | HP:0003657 | Granular osmiophilic deposits (GROD) in cells | 1 | NOTCH3 CL E G H | 4854 | 7883 | OMIM:125310 | Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy | | | | 144 | | |
HP:0004356 | HP:0003148 | Elevated serum acid phosphatase | 1 | OCRL CL E G H | 4952 | 8108 | OMIM:309000 | Lowe syndrome | . | | | 88 | | |
HP:0004356 | HP:0003148 | Elevated serum acid phosphatase | 1 | PSAP CL E G H | 5660 | 9498 | OMIM:610539 | Gaucher disease, atypical | | | | 81 | | |
HP:0004356 | HP:0003148 | Elevated serum acid phosphatase | 1 | TNFRSF11B CL E G H | 4982 | 11909 | OMIM:239000 | Paget disease of bone 5, juvenile-onset | . | | | 44 | | |