Table 1 HPOs in the individuals and HPO-related genes affected by CNVs in them
From: A crowdsourcing database for the copy-number variation of the Spanish population
HPO ID | HPO | Individuals | Deletions | Amplifications | Any CNV | Percentage explained |
|---|---|---|---|---|---|---|
HP:0001249 | Intellectual disability | 17 | 17 | 7 | 17 | 100.00 |
HP:0001263 | Global developmental delay | 17 | 17 | 10 | 17 | 100.00 |
HP:0001251 | Ataxia | 5 | 5 | 0 | 5 | 100.00 |
HP:0000252 | Microcephaly | 4 | 4 | 3 | 4 | 100.00 |
HP:0004322 | Short stature | 4 | 4 | 0 | 4 | 100.00 |
HP:0001298 | Encephalopathy | 3 | 3 | 0 | 3 | 100.00 |
HP:0002652 | Skeletal dysplasia | 2 | 2 | 0 | 2 | 100.00 |
HP:0001256 | Intellectual disability, mild | 1 | 1 | 0 | 1 | 100.00 |
HP:0001328 | Specific learning disability | 1 | 1 | 0 | 1 | 100.00 |
HP:0001270 | Motor delay | 1 | 1 | 0 | 1 | 100.00 |
HP:0001250 | Seizures | 1 | 1 | 0 | 1 | 100.00 |
HP:0001290 | Generalized hypotonia | 1 | 1 | 1 | 1 | 100.00 |
HP:0001067 | Neurofibromas | 1 | 1 | 0 | 1 | 100.00 |
HP:0200134 | Epileptic encephalopathy | 4 | 3 | 0 | 3 | 75.00 |
HP:0000729 | Autistic behavior | 2 | 1 | 0 | 1 | 50.00 |
HP:0001332 | Dystonia | 3 | 1 | 0 | 1 | 33.33 |
HP:0010864 | Intellectual disability, severe | 6 | 1 | 0 | 1 | 16.67 |
HP:0003002 | Breast carcinoma | 10 | 1 | 0 | 1 | 10.00 |
HP:0000083 | Renal insufficiency | 9 | 0 | 0 | 0 | 0.00 |
HP:0002206 | Pulmonary fibrosis | 6 | 0 | 0 | 0 | 0.00 |
HP:0000107 | Renal cyst | 5 | 0 | 0 | 0 | 0.00 |
HP:0002313 | Spastic paraparesis | 5 | 0 | 0 | 0 | 0.00 |
HP:0003003 | Colon cancer | 5 | 0 | 0 | 0 | 0.00 |
HP:0000488 | Retinopathy | 4 | 0 | 0 | 0 | 0.00 |
HP:0002664 | Neoplasm | 3 | 0 | 0 | 0 | 0.00 |
HP:0002110 | Bronchiectasis | 3 | 0 | 0 | 0 | 0.00 |
HP:0002342 | Intellectual disability, moderate | 2 | 0 | 0 | 0 | 0.00 |
HP:0011343 | Moderate global developmental delay | 2 | 0 | 0 | 0 | 0.00 |
HP:0009830 | Peripheral neuropathy | 2 | 0 | 0 | 0 | 0.00 |
HP:0001300 | Parkinsonism | 2 | 0 | 0 | 0 | 0.00 |
HP:0001258 | Spastic paraplegia | 2 | 0 | 0 | 0 | 0.00 |
HP:0012126 | Stomach cancer | 2 | 0 | 0 | 0 | 0.00 |
HP:0001638 | Cardiomyopathy | 2 | 0 | 0 | 0 | 0.00 |
HP:0003107 | Abnormal circulating cholesterol concentration | 2 | 0 | 0 | 0 | 0.00 |
HP:0004482 | Relative macrocephaly | 1 | 0 | 0 | 0 | 0.00 |
HP:0000256 | Macrocephaly | 1 | 0 | 0 | 0 | 0.00 |
HP:0008551 | Microtia | 1 | 0 | 0 | 0 | 0.00 |
HP:0000525 | Abnormality iris morphology | 1 | 0 | 0 | 0 | 0.00 |
HP:0007105 | Infantile encephalopathy | 1 | 0 | 0 | 0 | 0.00 |
HP:0002134 | Abnormality of the basal ganglia | 1 | 0 | 0 | 0 | 0.00 |
HP:0007002 | Motor axonal neuropathy | 1 | 0 | 0 | 0 | 0.00 |
HP:0003477 | Peripheral axonal neuropathy | 1 | 0 | 0 | 0 | 0.00 |
HP:0003198 | Myopathy | 1 | 0 | 0 | 0 | 0.00 |
HP:0001324 | Muscle weakness | 1 | 0 | 0 | 0 | 0.00 |
HP:0010978 | Abnormality of immune system physiology | 1 | 0 | 0 | 0 | 0.00 |
HP:0100242 | Sarcoma | 1 | 0 | 0 | 0 | 0.00 |
HP:0008527 | Congenital sensorineural hearing impairment | 1 | 0 | 0 | 0 | 0.00 |
HP:0008504 | Moderate sensorineural hearing impairment | 1 | 0 | 0 | 0 | 0.00 |
HP:0001639 | Hypertrophic cardiomyopathy | 1 | 0 | 0 | 0 | 0.00 |
HP:0004356 | Abnormality of lysosomal metabolism | 1 | 0 | 0 | 0 | 0.00 |
HP:0032245 | Abnormal metabolism | 1 | 0 | 0 | 0 | 0.00 |