Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3281044
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. 27773430 2016
CUI: C3281044
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. 27773430 2016
CUI: C3281044
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY 		0.700 GeneticVariation disease UNIPROT Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012
CUI: C3281044
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY 		0.700 GeneticVariation disease CLINVAR
CUI: C3281044
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY 		0.700 CausalMutation disease CLINVAR
CUI: C3281044
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY 		0.700 Biomarker disease CTD_human
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.300 Biomarker disease CTD_human PIDDosome expression and the role of caspase-2 activation for chemotherapy-induced apoptosis in RCCs. 20208132 2010
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.300 Biomarker disease CTD_human PIDDosome expression and the role of caspase-2 activation for chemotherapy-induced apoptosis in RCCs. 20208132 2010
CUI: C1266042
Disease: Chromophobe Renal Cell Carcinoma
Chromophobe Renal Cell Carcinoma 		0.300 Biomarker disease CTD_human PIDDosome expression and the role of caspase-2 activation for chemotherapy-induced apoptosis in RCCs. 20208132 2010
CUI: C1266043
Disease: Sarcomatoid Renal Cell Carcinoma
Sarcomatoid Renal Cell Carcinoma 		0.300 Biomarker disease CTD_human PIDDosome expression and the role of caspase-2 activation for chemotherapy-induced apoptosis in RCCs. 20208132 2010
CUI: C1266044
Disease: Collecting Duct Carcinoma of the Kidney
Collecting Duct Carcinoma of the Kidney 		0.300 Biomarker disease CTD_human PIDDosome expression and the role of caspase-2 activation for chemotherapy-induced apoptosis in RCCs. 20208132 2010
CUI: C1306837
Disease: Papillary Renal Cell Carcinoma
Papillary Renal Cell Carcinoma 		0.300 Biomarker disease CTD_human PIDDosome expression and the role of caspase-2 activation for chemotherapy-induced apoptosis in RCCs. 20208132 2010
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.130 GeneticVariation disease BEFREE This study provides detailed data about the phenotypic spectrum of patients with lissencephaly due to a CRADD variant that affects function. 30914828 2019
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.130 GeneticVariation disease BEFREE Homozygous null variant in CRADD, encoding an adaptor protein that mediates apoptosis, is associated with lissencephaly. 28686357 2017
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.130 GeneticVariation disease BEFREE Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. 27773430 2016
CUI: C0266463
Disease: Lissencephaly
Lissencephaly 		0.130 Biomarker disease HPO
CUI: C0266483
Disease: Pachygyria
Pachygyria 		0.120 GeneticVariation disease BEFREE Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population. 31506600 2020
CUI: C0266483
Disease: Pachygyria
Pachygyria 		0.120 GeneticVariation disease BEFREE Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population. 30914828 2019
CUI: C0266483
Disease: Pachygyria
Pachygyria 		0.120 Biomarker disease HPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.110 GeneticVariation disease BEFREE Finally, we identify a Finland enriched homozygote variant in the CRADD ID associated gene. 30679432 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 GeneticVariation group BEFREE Since frontotemporal pachygyria is the hallmark of the disease, brain imaging studies are essential to support the molecular diagnosis for individuals with ID and a CRADD variant. 30914828 2019
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.110 GeneticVariation disease BEFREE Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. 27773430 2016
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.110 Biomarker disease HPO
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.110 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 Biomarker group HPO