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: C4025846
Disease: Abnormality of vision
Abnormality of vision 		0.400 Biomarker disease GENOMICS_ENGLAND De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities. 29556724 2018
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		0.400 CausalMutation disease CLINVAR
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.320 Biomarker group GENOMICS_ENGLAND 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 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 Biomarker disease GENOMICS_ENGLAND De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities. 29556724 2018
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: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.300 Biomarker phenotype GENOMICS_ENGLAND De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities. 29556724 2018
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker disease GENOMICS_ENGLAND De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities. 29556724 2018
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.100 GeneticVariation disease GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655 2019
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.100 GeneticVariation disease GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655 2019
CUI: C0027121
Disease: Myositis
Myositis 		0.100 GeneticVariation disease GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655 2019
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.100 GeneticVariation disease GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655 2019
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		0.100 GeneticVariation phenotype GWASCAT A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration. 26561523 2016
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