Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.700 CausalMutation CLINVAR

Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.700 GeneticVariation CLINVAR

Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C1837501
Disease: Microcephaly, Primary Autosomal Recessive, 5
Microcephaly, Primary Autosomal Recessive, 5 		0.610 GeneticVariation CLINVAR Comprehensive genomic analysis of patients with disorders of cerebral cortical development. 29706646

2018
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C1837501
Disease: Microcephaly, Primary Autosomal Recessive, 5
Microcephaly, Primary Autosomal Recessive, 5 		0.610 GeneticVariation CLINVAR Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations. 19770472

2009
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C1837501
Disease: Microcephaly, Primary Autosomal Recessive, 5
Microcephaly, Primary Autosomal Recessive, 5 		0.610 GeneticVariation CLINVAR ASPM is a major determinant of cerebral cortical size. 12355089

2002
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C1837501
Disease: Microcephaly, Primary Autosomal Recessive, 5
Microcephaly, Primary Autosomal Recessive, 5 		0.610 CausalMutation CLINVAR

Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.400 Biomarker HPO

Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		0.130 CausalMutation CLINVAR

Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.120 Biomarker HPO

Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.110 Biomarker HPO

Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker HPO

Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.100 GeneticVariation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		0.100 GeneticVariation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123

2020
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		0.100 GeneticVariation CLINVAR Comprehensive genomic analysis of patients with disorders of cerebral cortical development. 29706646

2018
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations. 27250695

2016
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations. 27250695

2016
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations. 27250695

2016
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations. 27250695

2016
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations. 27250695

2016
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR Genetic heterogeneity in Pakistani microcephaly families. 22775483

2013
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR Genetic heterogeneity in Pakistani microcephaly families. 22775483

2013
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Genetic heterogeneity in Pakistani microcephaly families. 22775483

2013
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Genetic heterogeneity in Pakistani microcephaly families. 22775483

2013
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Genetic heterogeneity in Pakistani microcephaly families. 22775483

2013
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C1167912
Disease: Coagulation factor measurement
Coagulation factor measurement 		0.100 GeneticVariation GWASCAT Ischemic stroke is associated with the ABO locus: the EuroCLOT study. 23381943

2013