Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1850056
Disease: Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome 		0.540 GermlineCausalMutation disease ORPHANET CCDC88A mutations cause PEHO-like syndrome in humans and mouse. 26917597 2016
CUI: C1850056
Disease: Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome 		0.540 GeneticVariation disease BEFREE CCDC88A mutations cause PEHO-like syndrome in humans and mouse. 26917597 2016
CUI: C1850056
Disease: Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome 		0.540 Biomarker disease BEFREE We suggest that PEHO or a PEHO-like syndrome may affect more patients than are currently identified, based on the original diagnostic criteria for this disorder. 12949965 2003
CUI: C1850056
Disease: Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome 		0.540 GeneticVariation disease BEFREE In this study, we report a consanguineous Saudi family with a novel homozygous nonsense mutation of the CCDC88A gene causing PEHO-like syndrome. 30392057 2019
CUI: C1850056
Disease: Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome 		0.540 Biomarker disease GENOMICS_ENGLAND In this study, we report a consanguineous Saudi family with a novel homozygous nonsense mutation of the CCDC88A gene causing PEHO-like syndrome. 30392057 2019
CUI: C1850056
Disease: Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome 		0.540 Biomarker disease BEFREE Variants in ZNHIT3 have not been identified in patients with PEHO or PEHO-like syndrome in other populations. 31048081 2020
CUI: C1850056
Disease: Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome 		0.540 Biomarker disease GENOMICS_ENGLAND CCDC88A mutations cause PEHO-like syndrome in humans and mouse. 26917597 2016
CUI: C1850055
Disease: PEHO syndrome
PEHO syndrome 		0.320 GeneticVariation disease BEFREE In conclusion, a complete loss of protein function due to premature stop gain was caused by a mutation in exon 12 of CCDC88A.This loss may lead to PEHO phenotype. 30392057 2019
CUI: C1850055
Disease: PEHO syndrome
PEHO syndrome 		0.320 Biomarker disease BEFREE As the mouse knockout phenotype mimics the human PEHO phenotype this suggests that loss of CCDC88A is a cause of the PEHO phenotype, and that CCDC88A is essential for multiple aspects of normal human neurodevelopment. 26917597 2016
CUI: C1850055
Disease: PEHO syndrome
PEHO syndrome 		0.320 Biomarker disease GENOMICS_ENGLAND As the mouse knockout phenotype mimics the human PEHO phenotype this suggests that loss of CCDC88A is a cause of the PEHO phenotype, and that CCDC88A is essential for multiple aspects of normal human neurodevelopment. 26917597 2016
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.300 Biomarker disease GENOMICS_ENGLAND A novel homozygous nonsense mutation in CCDC88A gene cause PEHO-like syndrome in consanguineous Saudi family. 30392057 2019
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.100 Biomarker disease HPO
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		0.100 Biomarker disease HPO
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		0.100 Biomarker disease HPO
CUI: C0266483
Disease: Pachygyria
Pachygyria 		0.100 Biomarker disease HPO
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 Biomarker disease HPO
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.100 Biomarker disease HPO
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		0.100 Biomarker disease HPO
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		0.100 Biomarker disease HPO
CUI: C3494422
Disease: Retrognathia
Retrognathia 		0.100 Biomarker disease HPO
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.020 AlteredExpression disease BEFREE Immunoblotting showed that APE/Ref-1 protein levels are increased in selectively vulnerable central nervous system (CNS) regions in individuals with ALS compared to age-matched controls. 12230304 2002
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.020 GeneticVariation disease BEFREE We have identified missense mutations in the APE gene coding for a multifunctional DNA repair enzyme, AP endonuclease in eight of 11 patients with amyotrophic lateral sclerosis (ALS) and familial ALS. 9507962 1998
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.020 Biomarker disease BEFREE Clinico-pathological analysis reveals 83% of high-grade astrocytoma (GIII + GIV) and 30% of low-grade (GII) tissue samples which were detected with pDok2 expression. 27975172 2018