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: 95
Gene Symbol: ACY1
ACY1 		aminoacylase 1 0.653 0.577 6.9E-09
CUI: C1835922
Disease: Aminoacylase 1 deficiency
Aminoacylase 1 deficiency 		disease 0.700 strong 1.000 0 7 2005 2011
Entrez Id: 95
Gene Symbol: ACY1
ACY1 		aminoacylase 1 0.653 0.577 6.9E-09
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 0 2006 2006
Entrez Id: 95
Gene Symbol: ACY1
ACY1 		aminoacylase 1 0.653 0.577 6.9E-09
CUI: C0039144
Disease: Syringomyelia
Syringomyelia 		disease 0.110 None 1.000 0 0 2006 2006
Entrez Id: 95
Gene Symbol: ACY1
ACY1 		aminoacylase 1 0.653 0.577 6.9E-09
CUI: C0005890
Disease: Body Height
Body Height 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 95
Gene Symbol: ACY1
ACY1 		aminoacylase 1 0.653 0.577 6.9E-09
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.100 None 0 0
Entrez Id: 95
Gene Symbol: ACY1
ACY1 		aminoacylase 1 0.653 0.577 6.9E-09
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		phenotype 0.100 None 0 0
Entrez Id: 95
Gene Symbol: ACY1
ACY1 		aminoacylase 1 0.653 0.577 6.9E-09
CUI: C1306587
Disease: Acute encephalopathy
Acute encephalopathy 		disease 0.100 None 0 0
Entrez Id: 95
Gene Symbol: ACY1
ACY1 		aminoacylase 1 0.653 0.577 6.9E-09
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		phenotype 0.100 None 0 0
Entrez Id: 95
Gene Symbol: ACY1
ACY1 		aminoacylase 1 0.653 0.577 6.9E-09
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype 0.100 None 0 0
Entrez Id: 95
Gene Symbol: ACY1
ACY1 		aminoacylase 1 0.653 0.577 6.9E-09
CUI: C4021758
Disease: Delayed CNS myelination
Delayed CNS myelination 		disease 0.100 None 0 0
Entrez Id: 95
Gene Symbol: ACY1
ACY1 		aminoacylase 1 0.653 0.577 6.9E-09
CUI: C1855676
Disease: Aplasia/Hypoplasia of the cerebellar vermis
Aplasia/Hypoplasia of the cerebellar vermis 		phenotype 0.100 None 0 0
Entrez Id: 95
Gene Symbol: ACY1
ACY1 		aminoacylase 1 0.653 0.577 6.9E-09
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 95
Gene Symbol: ACY1
ACY1 		aminoacylase 1 0.653 0.577 6.9E-09
CUI: C0003578
Disease: Apnea
Apnea 		phenotype 0.100 None 0 0
Entrez Id: 95
Gene Symbol: ACY1
ACY1 		aminoacylase 1 0.653 0.577 6.9E-09
CUI: C0426421
Disease: Wide nose
Wide nose 		phenotype 0.100 None 0 0
Entrez Id: 95
Gene Symbol: ACY1
ACY1 		aminoacylase 1 0.653 0.577 6.9E-09
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		phenotype 0.100 None 0 0
Entrez Id: 95
Gene Symbol: ACY1
ACY1 		aminoacylase 1 0.653 0.577 6.9E-09
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.100 None 0 0
Entrez Id: 95
Gene Symbol: ACY1
ACY1 		aminoacylase 1 0.653 0.577 6.9E-09
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype 0.100 None 0 0
Entrez Id: 95
Gene Symbol: ACY1
ACY1 		aminoacylase 1 0.653 0.577 6.9E-09
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 95
Gene Symbol: ACY1
ACY1 		aminoacylase 1 0.653 0.577 6.9E-09
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.100 None 0 0
Entrez Id: 95
Gene Symbol: ACY1
ACY1 		aminoacylase 1 0.653 0.577 6.9E-09
CUI: C0042963
Disease: Vomiting
Vomiting 		phenotype 0.100 None 0 0
Entrez Id: 95
Gene Symbol: ACY1
ACY1 		aminoacylase 1 0.653 0.577 6.9E-09
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		group 0.100 None 0 0
Entrez Id: 95
Gene Symbol: ACY1
ACY1 		aminoacylase 1 0.653 0.577 6.9E-09
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		phenotype 0.100 None 0 0
Entrez Id: 95
Gene Symbol: ACY1
ACY1 		aminoacylase 1 0.653 0.577 6.9E-09
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		disease 0.100 None 0 0
Entrez Id: 95
Gene Symbol: ACY1
ACY1 		aminoacylase 1 0.653 0.577 6.9E-09
CUI: C0424230
Disease: Motor retardation
Motor retardation 		phenotype 0.100 None 0 0
Entrez Id: 95
Gene Symbol: ACY1
ACY1 		aminoacylase 1 0.653 0.577 6.9E-09
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		phenotype 0.100 None 0 0