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:0012708 | HP:0012708 | Reduced brain N-acetyl aspartate level by MRS | 0 | ATAD3A CL E G H | 55210 | 25567 | OMIM:617183 | Harel-Yoon syndrome | | | | 5 | | |
HP:0012708 | HP:0012708 | Reduced brain N-acetyl aspartate level by MRS | 0 | CACNA1G CL E G H | 8913 | 1394 | ORPHA:458803 | Spinocerebellar ataxia type 42 | HP:0040283 - Occasional | | | 32 | | |
HP:0012708 | HP:0012708 | Reduced brain N-acetyl aspartate level by MRS | 0 | CNP CL E G H | 1267 | 2158 | OMIM:619071 | LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20 | | | | | | |
HP:0012708 | HP:0012708 | Reduced brain N-acetyl aspartate level by MRS | 0 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0012708 | HP:0012708 | Reduced brain N-acetyl aspartate level by MRS | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206436 | Infantile Krabbe disease | HP:0040282 - Frequent | | | 160 | | |
HP:0012708 | HP:0012708 | Reduced brain N-acetyl aspartate level by MRS | 0 | GRM7 CL E G H | 2917 | 4599 | OMIM:618922 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA | | | | 5 | | |
HP:0012708 | HP:0012708 | Reduced brain N-acetyl aspartate level by MRS | 0 | NDUFB7 CL E G H | 4713 | 7702 | OMIM:620135 | | | | | | | |
HP:0012708 | HP:0012708 | Reduced brain N-acetyl aspartate level by MRS | 0 | NGLY1 CL E G H | 55768 | 17646 | OMIM:615273 | Congenital disorder of deglycosylation | | | | 32 | | |
HP:0012708 | HP:0012708 | Reduced brain N-acetyl aspartate level by MRS | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:206436 | Infantile Krabbe disease | HP:0040282 - Frequent | | | 81 | | |
HP:0012708 | HP:0012708 | Reduced brain N-acetyl aspartate level by MRS | 0 | SDHAF1 CL E G H | 644096 | 33867 | OMIM:619166 | MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2; MC2DN2 | | | | 16 | | |
HP:0012708 | HP:0012708 | Reduced brain N-acetyl aspartate level by MRS | 0 | SDHD CL E G H | 6392 | 10683 | OMIM:619167 | MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3 | | | | 129 | | |
HP:0012708 | HP:0012708 | Reduced brain N-acetyl aspartate level by MRS | 0 | SLC25A12 CL E G H | 8604 | 10982 | OMIM:612949 | Epileptic encephalopathy, early infantile, 39 | | | | 44 | | |
HP:0012708 | HP:0012708 | Reduced brain N-acetyl aspartate level by MRS | 0 | TBCK CL E G H | 93627 | 28261 | OMIM:616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | | | | 13 | | |