PRR12, proline rich 12, 57479

N. diseases: 35; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.320 GeneticVariation group BEFREE Recently, a de novo t(10;19) (q22.3;q13.33) translocation disrupting the PRR12 gene was detected in a girl with intellectual disability and neuropsychiatric alterations. 29556724 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.320 GeneticVariation group BEFREE A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterations. 26163108 2015
CUI: C4025845
Disease: Abnormality iris morphology
Abnormality iris morphology 		0.310 GeneticVariation disease BEFREE De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities. 29556724 2018
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.010 Biomarker group BEFREE In summary, we propose that haploinsufficiency of PRR12 is associated with this novel multisystem neurodevelopmental disorder. 29556724 2018
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		0.400 CausalMutation disease CLINVAR
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.100 CausalMutation disease CLINVAR
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 CausalMutation disease CLINVAR
CUI: C0014877
Disease: Esotropia
Esotropia 		0.100 CausalMutation disease CLINVAR
CUI: C0015310
Disease: Exotropia
Exotropia 		0.100 CausalMutation disease CLINVAR
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 CausalMutation disease CLINVAR
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR
CUI: C0151526
Disease: Premature Birth
Premature Birth 		0.100 CausalMutation phenotype CLINVAR
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 CausalMutation disease CLINVAR
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		0.100 CausalMutation disease CLINVAR
CUI: C0240953
Disease: Winged scapula
Winged scapula 		0.100 CausalMutation phenotype CLINVAR
CUI: C0349588
Disease: Short stature
Short stature 		0.100 CausalMutation phenotype CLINVAR
CUI: C0423848
Disease: Distichiasis
Distichiasis 		0.100 CausalMutation disease CLINVAR
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 CausalMutation phenotype CLINVAR
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		0.100 CausalMutation group CLINVAR
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 CausalMutation phenotype CLINVAR
CUI: C1854301
Disease: Motor delay
Motor delay 		0.100 CausalMutation phenotype CLINVAR
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 CausalMutation phenotype CLINVAR
CUI: C1866933
Disease: Structural brain abnormalities
Structural brain abnormalities 		0.100 CausalMutation phenotype CLINVAR
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 CausalMutation disease CLINVAR