1p36 region

GPTKB entity

Statements (50)
Predicate Object
gptkbp:instanceOf 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:diabetes_mellitus
gptkb:autism_spectrum_disorder
epilepsy
hearing impairment
obesity
congenital heart defects
distinct facial features
hypotonia
intellectual disability
cognitive impairment
vision problems
hearing loss
hypothyroidism
seizures
developmental delay
microcephaly
renal anomalies
cardiomyopathy
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
https://www.w3.org/2000/01/rdf-schema#label 1p36 region
gptkbp:locatedOn chromosome 1
gptkbp:locatedOnChromosome gptkb:1p36
gptkbp:bfsParent gptkb:1p36.22
gptkbp:bfsLayer 6