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: 4854
Gene Symbol: NOTCH3
NOTCH3 		notch receptor 3 0.435 0.808 0.41
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		group 0.500 strong 0.933 0 0 2000 2019
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		notch receptor 3 0.435 0.808 0.41
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		group 0.500 strong 0.973 0 0 1996 2020
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		notch receptor 3 0.435 0.808 0.41
CUI: C0497327
Disease: Dementia
Dementia 		disease 0.500 strong 1.000 0 0 1996 2017
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		notch receptor 3 0.435 0.808 0.41
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		group 0.420 None 1.000 0 0 2005 2007
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		notch receptor 3 0.435 0.808 0.41
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.410 strong 1.000 0 0 2009 2018
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		notch receptor 3 0.435 0.808 0.41
CUI: C0206648
Disease: Myofibromatosis
Myofibromatosis 		disease 0.410 None 1.000 0 0 2013 2013
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		notch receptor 3 0.435 0.808 0.41
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms 		group 0.400 None 1.000 0 0 2017 2017
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		notch receptor 3 0.435 0.808 0.41
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		group 0.200 None 1.000 0 0 1999 2019
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		notch receptor 3 0.435 0.808 0.41
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group 0.170 None 0.857 0 0 2000 2020
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		notch receptor 3 0.435 0.808 0.41
CUI: C0003537
Disease: Aphasia
Aphasia 		disease 0.110 None 1.000 0 0 2005 2005
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		notch receptor 3 0.435 0.808 0.41
CUI: C1261470
Disease: Congenital meningocele
Congenital meningocele 		disease 0.110 None 1.000 0 0 2020 2020
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		notch receptor 3 0.435 0.808 0.41
CUI: C4024935
Disease: Subcortical dementia
Subcortical dementia 		disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		notch receptor 3 0.435 0.808 0.41
CUI: C0542476
Disease: Forgetful
Forgetful 		phenotype 0.100 None 0 0
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		notch receptor 3 0.435 0.808 0.41
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		disease 0.100 None 0 0
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		notch receptor 3 0.435 0.808 0.41
CUI: C1836678
Disease: Abnormality of the middle ear ossicles
Abnormality of the middle ear ossicles 		phenotype 0.100 None 0 0
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		notch receptor 3 0.435 0.808 0.41
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 0 0
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		notch receptor 3 0.435 0.808 0.41
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		disease 0.100 None 0 0
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		notch receptor 3 0.435 0.808 0.41
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		phenotype 0.100 None 0 0
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		notch receptor 3 0.435 0.808 0.41
CUI: C1837463
Disease: Narrow face
Narrow face 		phenotype 0.100 None 0 0
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		notch receptor 3 0.435 0.808 0.41
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype 0.100 None 0 0
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		notch receptor 3 0.435 0.808 0.41
CUI: C1837522
Disease: Impaired pain sensation
Impaired pain sensation 		phenotype 0.100 None 0 0
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		notch receptor 3 0.435 0.808 0.41
CUI: C0375206
Disease: Hemiplegia/hemiparesis
Hemiplegia/hemiparesis 		disease 0.100 None 0 0
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		notch receptor 3 0.435 0.808 0.41
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		phenotype 0.100 None 0 0
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		notch receptor 3 0.435 0.808 0.41
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		phenotype 0.100 None 0 0
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		notch receptor 3 0.435 0.808 0.41
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0