Source: INFERRED

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 259266
Gene Symbol: ASPM
ASPM 		abnormal spindle microtubule assembly 0.526 0.769 3.4E-49
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology 		disease 0.100 None 0 0
Entrez Id: 259266
Gene Symbol: ASPM
ASPM 		abnormal spindle microtubule assembly 0.526 0.769 3.4E-49
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		phenotype 0.100 None 0 2
Entrez Id: 259266
Gene Symbol: ASPM
ASPM 		abnormal spindle microtubule assembly 0.526 0.769 3.4E-49
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		disease 0.100 None 0 0
Entrez Id: 259266
Gene Symbol: ASPM
ASPM 		abnormal spindle microtubule assembly 0.526 0.769 3.4E-49
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		disease 0.100 None 1.000 1 1 2020 2020
Entrez Id: 259266
Gene Symbol: ASPM
ASPM 		abnormal spindle microtubule assembly 0.526 0.769 3.4E-49
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.100 None 0 0
Entrez Id: 259266
Gene Symbol: ASPM
ASPM 		abnormal spindle microtubule assembly 0.526 0.769 3.4E-49
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		disease 0.700 strong 1.000 0 79 2000 2018
Entrez Id: 259266
Gene Symbol: ASPM
ASPM 		abnormal spindle microtubule assembly 0.526 0.769 3.4E-49
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype 0.100 None 0 0
Entrez Id: 259266
Gene Symbol: ASPM
ASPM 		abnormal spindle microtubule assembly 0.526 0.769 3.4E-49
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 259266
Gene Symbol: ASPM
ASPM 		abnormal spindle microtubule assembly 0.526 0.769 3.4E-49
CUI: C1167912
Disease: Coagulation factor measurement
Coagulation factor measurement 		phenotype 0.100 None 1.000 1 1 2013 2013
Entrez Id: 259266
Gene Symbol: ASPM
ASPM 		abnormal spindle microtubule assembly 0.526 0.769 3.4E-49
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		disease 0.130 None 1.000 0 3 2003 2018
Entrez Id: 259266
Gene Symbol: ASPM
ASPM 		abnormal spindle microtubule assembly 0.526 0.769 3.4E-49
CUI: C2749675
Disease: Cortical gyral simplification
Cortical gyral simplification 		phenotype 0.100 None 0 0
Entrez Id: 259266
Gene Symbol: ASPM
ASPM 		abnormal spindle microtubule assembly 0.526 0.769 3.4E-49
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0
Entrez Id: 259266
Gene Symbol: ASPM
ASPM 		abnormal spindle microtubule assembly 0.526 0.769 3.4E-49
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype 0.100 None 0 0
Entrez Id: 259266
Gene Symbol: ASPM
ASPM 		abnormal spindle microtubule assembly 0.526 0.769 3.4E-49
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.100 None 0 0
Entrez Id: 259266
Gene Symbol: ASPM
ASPM 		abnormal spindle microtubule assembly 0.526 0.769 3.4E-49
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 10 5 2002 2016
Entrez Id: 259266
Gene Symbol: ASPM
ASPM 		abnormal spindle microtubule assembly 0.526 0.769 3.4E-49
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		phenotype 0.100 None 1.000 1 1 2020 2020
Entrez Id: 259266
Gene Symbol: ASPM
ASPM 		abnormal spindle microtubule assembly 0.526 0.769 3.4E-49
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		disease 0.100 None 0 0
Entrez Id: 259266
Gene Symbol: ASPM
ASPM 		abnormal spindle microtubule assembly 0.526 0.769 3.4E-49
CUI: C1849172
Disease: Frontal lobe hypoplasia
Frontal lobe hypoplasia 		phenotype 0.100 None 0 0
Entrez Id: 259266
Gene Symbol: ASPM
ASPM 		abnormal spindle microtubule assembly 0.526 0.769 3.4E-49
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 259266
Gene Symbol: ASPM
ASPM 		abnormal spindle microtubule assembly 0.526 0.769 3.4E-49
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		phenotype 0.100 None 0 0
Entrez Id: 259266
Gene Symbol: ASPM
ASPM 		abnormal spindle microtubule assembly 0.526 0.769 3.4E-49
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		phenotype 0.100 None 0 0
Entrez Id: 259266
Gene Symbol: ASPM
ASPM 		abnormal spindle microtubule assembly 0.526 0.769 3.4E-49
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease 0.100 None 0 0
Entrez Id: 259266
Gene Symbol: ASPM
ASPM 		abnormal spindle microtubule assembly 0.526 0.769 3.4E-49
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.120 None 1.000 0 0 2003 2019
Entrez Id: 259266
Gene Symbol: ASPM
ASPM 		abnormal spindle microtubule assembly 0.526 0.769 3.4E-49
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		disease 0.100 None 1.000 1 2 2018 2018
Entrez Id: 259266
Gene Symbol: ASPM
ASPM 		abnormal spindle microtubule assembly 0.526 0.769 3.4E-49
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.400 None 1.000 0 0 2003 2018