PRSS12, serine protease 12, 8492

N. diseases: 50; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 Biomarker phenotype HPO
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		0.100 Biomarker disease HPO
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		0.100 Biomarker disease HPO
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 Biomarker phenotype HPO
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		0.100 Biomarker phenotype HPO
CUI: C0700201
Disease: Dyssomnias
Dyssomnias 		0.100 Biomarker disease HPO
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		0.100 Biomarker phenotype HPO
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		0.100 Biomarker group HPO
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.100 Biomarker disease HPO
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		0.100 Biomarker disease HPO
CUI: C1846176
Disease: Hyperactive deep tendon reflexes
Hyperactive deep tendon reflexes 		0.100 Biomarker phenotype HPO
CUI: C1848207
Disease: Poor speech
Poor speech 		0.100 Biomarker phenotype HPO
CUI: C1854301
Disease: Motor delay
Motor delay 		0.100 Biomarker phenotype HPO
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO
CUI: C1859470
Disease: Large basal ganglia
Large basal ganglia 		0.100 Biomarker phenotype HPO
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		0.100 Biomarker phenotype HPO
CUI: C3810365
Disease: Central visual impairment
Central visual impairment 		0.100 Biomarker disease HPO
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges 		0.100 Biomarker phenotype HPO
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		0.100 Biomarker phenotype HPO
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		0.100 Biomarker phenotype HPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.120 Biomarker disease BEFREE Loss of motopsin gene function causes severe intellectual disability in humans and enhanced social behavior in mice. 30233183 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.120 GeneticVariation group BEFREE Mutations in the human neurotrypsin gene are associated with autosomal recessive mental retardation. 16902143 2006