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: 23600
Gene Symbol: AMACR
AMACR 		alpha-methylacyl-CoA racemase 0.510 0.769 2.7E-02
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		group 0.100 None 0 0
Entrez Id: 23600
Gene Symbol: AMACR
AMACR 		alpha-methylacyl-CoA racemase 0.510 0.769 2.7E-02
CUI: C0154920
Disease: Pigmentary iris degeneration
Pigmentary iris degeneration 		phenotype 0.100 None 0 0
Entrez Id: 23600
Gene Symbol: AMACR
AMACR 		alpha-methylacyl-CoA racemase 0.510 0.769 2.7E-02
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease 0.100 None 0 0
Entrez Id: 23600
Gene Symbol: AMACR
AMACR 		alpha-methylacyl-CoA racemase 0.510 0.769 2.7E-02
CUI: C0549613
Disease: Biliary tract abnormality
Biliary tract abnormality 		phenotype 0.100 None 0 0
Entrez Id: 23600
Gene Symbol: AMACR
AMACR 		alpha-methylacyl-CoA racemase 0.510 0.769 2.7E-02
CUI: C0554103
Disease: Intestinal malabsorption of fat
Intestinal malabsorption of fat 		phenotype 0.100 None 0 0
Entrez Id: 23600
Gene Symbol: AMACR
AMACR 		alpha-methylacyl-CoA racemase 0.510 0.769 2.7E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease 0.100 None 0 0
Entrez Id: 23600
Gene Symbol: AMACR
AMACR 		alpha-methylacyl-CoA racemase 0.510 0.769 2.7E-02
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism 		disease 0.100 None 0 0
Entrez Id: 23600
Gene Symbol: AMACR
AMACR 		alpha-methylacyl-CoA racemase 0.510 0.769 2.7E-02
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		disease 0.100 None 0 0
Entrez Id: 23600
Gene Symbol: AMACR
AMACR 		alpha-methylacyl-CoA racemase 0.510 0.769 2.7E-02
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		disease 0.100 None 0 0
Entrez Id: 23600
Gene Symbol: AMACR
AMACR 		alpha-methylacyl-CoA racemase 0.510 0.769 2.7E-02
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype 0.100 None 0 0
Entrez Id: 23600
Gene Symbol: AMACR
AMACR 		alpha-methylacyl-CoA racemase 0.510 0.769 2.7E-02
CUI: C1855106
Disease: Neonatal onset
Neonatal onset 		phenotype 0.100 None 0 0
Entrez Id: 23600
Gene Symbol: AMACR
AMACR 		alpha-methylacyl-CoA racemase 0.510 0.769 2.7E-02
CUI: C1859236
Disease: Prolonged neonatal jaundice
Prolonged neonatal jaundice 		phenotype 0.100 None 0 0
Entrez Id: 23600
Gene Symbol: AMACR
AMACR 		alpha-methylacyl-CoA racemase 0.510 0.769 2.7E-02
CUI: C1862095
Disease: Bilateral single transverse palmar creases
Bilateral single transverse palmar creases 		phenotype 0.100 None 0 0
Entrez Id: 23600
Gene Symbol: AMACR
AMACR 		alpha-methylacyl-CoA racemase 0.510 0.769 2.7E-02
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		phenotype 0.100 None 0 0
Entrez Id: 23600
Gene Symbol: AMACR
AMACR 		alpha-methylacyl-CoA racemase 0.510 0.769 2.7E-02
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 23600
Gene Symbol: AMACR
AMACR 		alpha-methylacyl-CoA racemase 0.510 0.769 2.7E-02
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		group 0.100 None 0 0
Entrez Id: 23600
Gene Symbol: AMACR
AMACR 		alpha-methylacyl-CoA racemase 0.510 0.769 2.7E-02
CUI: C0085605
Disease: Liver Failure
Liver Failure 		disease 0.100 None 0 0
Entrez Id: 23600
Gene Symbol: AMACR
AMACR 		alpha-methylacyl-CoA racemase 0.510 0.769 2.7E-02
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		group 0.100 None 0 0
Entrez Id: 23600
Gene Symbol: AMACR
AMACR 		alpha-methylacyl-CoA racemase 0.510 0.769 2.7E-02
CUI: C0008370
Disease: Cholestasis
Cholestasis 		disease 0.100 None 0 0
Entrez Id: 23600
Gene Symbol: AMACR
AMACR 		alpha-methylacyl-CoA racemase 0.510 0.769 2.7E-02
CUI: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis 		disease 0.100 None 0 0
Entrez Id: 23600
Gene Symbol: AMACR
AMACR 		alpha-methylacyl-CoA racemase 0.510 0.769 2.7E-02
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		disease 0.100 None 0 0
Entrez Id: 23600
Gene Symbol: AMACR
AMACR 		alpha-methylacyl-CoA racemase 0.510 0.769 2.7E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease 0.100 None 0 0
Entrez Id: 23600
Gene Symbol: AMACR
AMACR 		alpha-methylacyl-CoA racemase 0.510 0.769 2.7E-02
CUI: C0013362
Disease: Dysarthria
Dysarthria 		disease 0.100 None 0 0
Entrez Id: 23600
Gene Symbol: AMACR
AMACR 		alpha-methylacyl-CoA racemase 0.510 0.769 2.7E-02
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease 0.100 None 0 0
Entrez Id: 23600
Gene Symbol: AMACR
AMACR 		alpha-methylacyl-CoA racemase 0.510 0.769 2.7E-02
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype 0.100 None 0 0