Statements (50)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:chromosomal_band
|
| gptkbp:associatedWith |
gptkb:1p36_deletion_syndrome
|
| gptkbp:containsGene |
gptkb:CAMTA1
gptkb:CASZ1 gptkb:GABRD gptkb:GNB1 gptkb:HSPG2 gptkb:KCNAB2 gptkb:PEX10 gptkb:PRDM16 gptkb:RERE gptkb:TP73 gptkb:UBE4B SKI |
| gptkbp:deletionLeadsTo |
gptkb:intellectual_disability
gptkb:diabetes_mellitus gptkb:autism_spectrum_disorder gptkb:cardiomyopathy epilepsy hearing impairment obesity congenital heart defects distinct facial features hypotonia cognitive impairment vision problems hearing loss hypothyroidism seizures developmental delay microcephaly renal anomalies feeding difficulties motor delay speech delay behavioral problems vision impairment autistic features brain malformations growth delay behavioral abnormalities craniofacial dysmorphism orofacial clefts skeletal anomalies thyroid dysfunction |
| gptkbp:locatedOn |
chromosome 1
|
| gptkbp:locatedOnChromosome |
gptkb:1p36
|
| gptkbp:bfsParent |
gptkb:1p36.22
|
| gptkbp:bfsLayer |
6
|
| https://www.w3.org/2000/01/rdf-schema#label |
1p36 region
|