Source: HPO

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: 79648
Gene Symbol: MCPH1
MCPH1 		microcephalin 1 0.540 0.846 7.8E-30
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.400 None 0.941 0 0 2002 2019
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1 		microcephalin 1 0.540 0.846 7.8E-30
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.140 None 0.750 0 0 2006 2018
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1 		microcephalin 1 0.540 0.846 7.8E-30
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.110 None 1.000 0 0 2019 2019
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1 		microcephalin 1 0.540 0.846 7.8E-30
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.100 None 0 0
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1 		microcephalin 1 0.540 0.846 7.8E-30
CUI: C1837503
Disease: Small cerebral cortex
Small cerebral cortex 		phenotype 0.100 None 0 0
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1 		microcephalin 1 0.540 0.846 7.8E-30
CUI: C1849172
Disease: Frontal lobe hypoplasia
Frontal lobe hypoplasia 		phenotype 0.100 None 0 0
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1 		microcephalin 1 0.540 0.846 7.8E-30
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		phenotype 0.100 None 0 0
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1 		microcephalin 1 0.540 0.846 7.8E-30
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		phenotype 0.100 None 0 0
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1 		microcephalin 1 0.540 0.846 7.8E-30
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1 		microcephalin 1 0.540 0.846 7.8E-30
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype 0.100 None 0 0
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1 		microcephalin 1 0.540 0.846 7.8E-30
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology 		disease 0.100 None 0 0
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1 		microcephalin 1 0.540 0.846 7.8E-30
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype 0.100 None 0 0
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1 		microcephalin 1 0.540 0.846 7.8E-30
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1 		microcephalin 1 0.540 0.846 7.8E-30
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		phenotype 0.100 None 0 0
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1 		microcephalin 1 0.540 0.846 7.8E-30
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease 0.100 None 0 0
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1 		microcephalin 1 0.540 0.846 7.8E-30
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		disease 0.100 None 0 0
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1 		microcephalin 1 0.540 0.846 7.8E-30
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		phenotype 0.100 None 0 0
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1 		microcephalin 1 0.540 0.846 7.8E-30
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		disease 0.100 None 0 0
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1 		microcephalin 1 0.540 0.846 7.8E-30
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney 		disease 0.100 None 0 0
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1 		microcephalin 1 0.540 0.846 7.8E-30
CUI: C0266483
Disease: Pachygyria
Pachygyria 		disease 0.100 None 0 0
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1 		microcephalin 1 0.540 0.846 7.8E-30
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia 		disease 0.100 None 0 0
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1 		microcephalin 1 0.540 0.846 7.8E-30
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 0
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1 		microcephalin 1 0.540 0.846 7.8E-30
CUI: C4025613
Disease: Increased rate of premature chromosome condensation
Increased rate of premature chromosome condensation 		phenotype 0.100 None 0 0