Source: INFERRED

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 8492
Gene Symbol: PRSS12
PRSS12 		serine protease 12 0.682 0.308 8.4E-29
CUI: C1855304
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1 		disease 0.610 strong 1.000 0 1 2002 2017
Entrez Id: 8492
Gene Symbol: PRSS12
PRSS12 		serine protease 12 0.682 0.308 8.4E-29
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease 0.120 None 1.000 0 0 2007 2018
Entrez Id: 8492
Gene Symbol: PRSS12
PRSS12 		serine protease 12 0.682 0.308 8.4E-29
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.120 None 1.000 0 0 2002 2006
Entrez Id: 8492
Gene Symbol: PRSS12
PRSS12 		serine protease 12 0.682 0.308 8.4E-29
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype 0.100 None 0 0
Entrez Id: 8492
Gene Symbol: PRSS12
PRSS12 		serine protease 12 0.682 0.308 8.4E-29
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		disease 0.100 None 0 0
Entrez Id: 8492
Gene Symbol: PRSS12
PRSS12 		serine protease 12 0.682 0.308 8.4E-29
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		group 0.100 None 0 0
Entrez Id: 8492
Gene Symbol: PRSS12
PRSS12 		serine protease 12 0.682 0.308 8.4E-29
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		phenotype 0.100 None 0 0
Entrez Id: 8492
Gene Symbol: PRSS12
PRSS12 		serine protease 12 0.682 0.308 8.4E-29
CUI: C0700201
Disease: Dyssomnias
Dyssomnias 		disease 0.100 None 0 0
Entrez Id: 8492
Gene Symbol: PRSS12
PRSS12 		serine protease 12 0.682 0.308 8.4E-29
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		phenotype 0.100 None 0 0
Entrez Id: 8492
Gene Symbol: PRSS12
PRSS12 		serine protease 12 0.682 0.308 8.4E-29
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 8492
Gene Symbol: PRSS12
PRSS12 		serine protease 12 0.682 0.308 8.4E-29
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 8492
Gene Symbol: PRSS12
PRSS12 		serine protease 12 0.682 0.308 8.4E-29
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0
Entrez Id: 8492
Gene Symbol: PRSS12
PRSS12 		serine protease 12 0.682 0.308 8.4E-29
CUI: C1527366
Disease: Salaam Seizures
Salaam Seizures 		disease 0.100 None 0 0
Entrez Id: 8492
Gene Symbol: PRSS12
PRSS12 		serine protease 12 0.682 0.308 8.4E-29
CUI: C1846176
Disease: Hyperactive deep tendon reflexes
Hyperactive deep tendon reflexes 		phenotype 0.100 None 0 0
Entrez Id: 8492
Gene Symbol: PRSS12
PRSS12 		serine protease 12 0.682 0.308 8.4E-29
CUI: C1848207
Disease: Poor speech
Poor speech 		phenotype 0.100 None 0 0
Entrez Id: 8492
Gene Symbol: PRSS12
PRSS12 		serine protease 12 0.682 0.308 8.4E-29
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 8492
Gene Symbol: PRSS12
PRSS12 		serine protease 12 0.682 0.308 8.4E-29
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		phenotype 0.100 None 0 0
Entrez Id: 8492
Gene Symbol: PRSS12
PRSS12 		serine protease 12 0.682 0.308 8.4E-29
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges 		phenotype 0.100 None 0 0
Entrez Id: 8492
Gene Symbol: PRSS12
PRSS12 		serine protease 12 0.682 0.308 8.4E-29
CUI: C3810365
Disease: Central visual impairment
Central visual impairment 		disease 0.100 None 0 0
Entrez Id: 8492
Gene Symbol: PRSS12
PRSS12 		serine protease 12 0.682 0.308 8.4E-29
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 8492
Gene Symbol: PRSS12
PRSS12 		serine protease 12 0.682 0.308 8.4E-29
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype 0.100 None 0 0
Entrez Id: 8492
Gene Symbol: PRSS12
PRSS12 		serine protease 12 0.682 0.308 8.4E-29
CUI: C1859470
Disease: Large basal ganglia
Large basal ganglia 		phenotype 0.100 None 0 0
Entrez Id: 8492
Gene Symbol: PRSS12
PRSS12 		serine protease 12 0.682 0.308 8.4E-29
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 8492
Gene Symbol: PRSS12
PRSS12 		serine protease 12 0.682 0.308 8.4E-29
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		disease 0.100 None 0 0
Entrez Id: 8492
Gene Symbol: PRSS12
PRSS12 		serine protease 12 0.682 0.308 8.4E-29
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		disease 0.100 None 0 0