ASPM, abnormal spindle microtubule assembly, 259266

N. diseases: 159; N. variants: 165
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs145489194
rs145489194
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C3711387
Disease:
Autosomal Recessive Primary Microcephaly 		0.710 GeneticVariation BEFREE Linkage and mutational analyses identified compound heterozygous truncating mutations within the ASPM gene segregating with MCPH (c.2389C>T [p.Arg797X] and c.7781_7782delAG [p.Gln2594fsX6]). 19332161 2009
dbSNP: rs145489194
rs145489194
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C3711387
Disease:
Autosomal Recessive Primary Microcephaly 		A 0.710 CausalMutation CLINVAR
dbSNP: rs886041709
rs886041709
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C3151520
Disease:
Early severe fetal akinesia sequence 		G 0.700 GeneticVariation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123 2020
dbSNP: rs886041709
rs886041709
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0003886
Disease:
Arthrogryposis 		G 0.700 GeneticVariation CLINVAR The genomic and clinical landscape of fetal akinesia. 31680123 2020
dbSNP: rs745997770
rs745997770
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C1837501
Disease:
Microcephaly, Primary Autosomal Recessive, 5 		A 0.700 GeneticVariation CLINVAR Comprehensive genomic analysis of patients with disorders of cerebral cortical development. 29706646 2018
dbSNP: rs745997770
rs745997770
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C1837249
Disease:
Malformations of Cortical Development, Group II 		A 0.700 GeneticVariation CLINVAR Comprehensive genomic analysis of patients with disorders of cerebral cortical development. 29706646 2018
dbSNP: rs765275884
rs765275884
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C1837501
Disease:
Microcephaly, Primary Autosomal Recessive, 5 		C 0.700 GeneticVariation CLINVAR Comprehensive genomic analysis of patients with disorders of cerebral cortical development. 29706646 2018
dbSNP: rs765275884
rs765275884
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C1837249
Disease:
Malformations of Cortical Development, Group II 		C 0.700 GeneticVariation CLINVAR Comprehensive genomic analysis of patients with disorders of cerebral cortical development. 29706646 2018
dbSNP: rs1189399471
rs1189399471
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations. 27250695 2016
dbSNP: rs1189399471
rs1189399471
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations. 27250695 2016
dbSNP: rs1553227742
rs1553227742
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 CausalMutation CLINVAR Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations. 27250695 2016
dbSNP: rs1553227742
rs1553227742
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations. 27250695 2016
dbSNP: rs1553326645
rs1553326645
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations. 27250695 2016
dbSNP: rs1553326645
rs1553326645
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0000772
Disease:
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations. 27250695 2016
dbSNP: rs587783211
rs587783211
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations. 27250695 2016
dbSNP: rs587783211
rs587783211
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations. 27250695 2016
dbSNP: rs765530357
rs765530357
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations. 27250695 2016
dbSNP: rs765530357
rs765530357
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations. 27250695 2016
dbSNP: rs10737686
rs10737686
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C2239219
Disease:
von Willebrand's factor (lab test) 		0.700 GeneticVariation GWASDB Ischemic stroke is associated with the ABO locus: the EuroCLOT study. 23381943 2013
dbSNP: rs10801589
rs10801589
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C2239219
Disease:
von Willebrand's factor (lab test) 		0.700 GeneticVariation GWASDB Ischemic stroke is associated with the ABO locus: the EuroCLOT study. 23381943 2013
dbSNP: rs10922162
rs10922162
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C2239219
Disease:
von Willebrand's factor (lab test) 		C 0.700 GeneticVariation GWASDB Ischemic stroke is associated with the ABO locus: the EuroCLOT study. 23381943 2013
dbSNP: rs10922162
rs10922162
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C1167912
Disease:
Coagulation factor measurement 		C 0.700 GeneticVariation GWASCAT Ischemic stroke is associated with the ABO locus: the EuroCLOT study. 23381943 2013
dbSNP: rs10922163
rs10922163
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C2239219
Disease:
von Willebrand's factor (lab test) 		0.700 GeneticVariation GWASDB Ischemic stroke is associated with the ABO locus: the EuroCLOT study. 23381943 2013
dbSNP: rs10922168
rs10922168
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C2239219
Disease:
von Willebrand's factor (lab test) 		0.700 GeneticVariation GWASDB Ischemic stroke is associated with the ABO locus: the EuroCLOT study. 23381943 2013
dbSNP: rs1189399471
rs1189399471
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Genetic heterogeneity in Pakistani microcephaly families. 22775483 2013