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: 63895
Gene Symbol: PIEZO2
PIEZO2 		piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C0332878
Disease: Congenital contracture
Congenital contracture 		group 0.100 None 0 0
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2 		piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C0014588
Disease: Epispadias
Epispadias 		group 0.100 None 0 0
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2 		piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		group 0.100 None 0 0
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2 		piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.100 None 0 0
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2 		piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C1855353
Disease: Fixed facial expression
Fixed facial expression 		phenotype 0.100 None 0 0
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2 		piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2 		piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C0234146
Disease: Absent reflex
Absent reflex 		phenotype 0.100 None 0 0
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2 		piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		phenotype 0.100 None 0 0
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2 		piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory 		phenotype 0.100 None 0 0
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2 		piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		phenotype 0.100 None 0 0
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2 		piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2 		piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		phenotype 0.100 None 0 0
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2 		piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C0349588
Disease: Short stature
Short stature 		phenotype 0.100 None 0 0
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2 		piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		phenotype 0.100 None 0 0
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2 		piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger 		phenotype 0.100 None 0 0
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2 		piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C1835884
Disease: Triangular face
Triangular face 		phenotype 0.100 None 0 0
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2 		piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass 		phenotype 0.100 None 0 0
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2 		piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2 		piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		phenotype 0.100 None 0 0
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2 		piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C1842587
Disease: Sensory axonal neuropathy
Sensory axonal neuropathy 		phenotype 0.100 None 0 0
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2 		piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.100 None 0 0
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2 		piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C1850656
Disease: Firm muscles
Firm muscles 		phenotype 0.100 None 0 0
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2 		piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C1856872
Disease: Down-sloping shoulders
Down-sloping shoulders 		phenotype 0.100 None 0 0
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2 		piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation 		phenotype 0.100 None 0 0
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2 		piezo type mechanosensitive ion channel component 2 0.529 0.769 8.1E-07
CUI: C1862479
Disease: Absent phalangeal crease
Absent phalangeal crease 		phenotype 0.100 None 0 0