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 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 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 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 GENOMICS_ENGLAND 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: 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: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. 21998595 2011
CUI: C0489786
Disease: Height
Height 		0.100 GeneticVariation phenotype GWASDB Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. 21998595 2011
CUI: C0013604
Disease: Edema
Edema 		0.100 Biomarker phenotype HPO
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.100 Biomarker phenotype HPO
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: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		0.100 Biomarker phenotype 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