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: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C4025891
Disease: Ambiguous genitalia, female
Ambiguous genitalia, female 		disease 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C4021823
Disease: Ambiguous genitalia, male
Ambiguous genitalia, male 		phenotype 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C3494422
Disease: Retrognathia
Retrognathia 		disease 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C1866730
Disease: Rhizomelia
Rhizomelia 		disease 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C1865598
Disease: Alveolar ridge overgrowth
Alveolar ridge overgrowth 		phenotype 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C1865597
Disease: Hypoplastic nasal bridge
Hypoplastic nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		disease 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		disease 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C0029454
Disease: Osteopetrosis
Osteopetrosis 		disease 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		phenotype 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C0026034
Disease: Microstomia
Microstomia 		disease 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C0025995
Disease: Micromelia
Micromelia 		disease 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		disease 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		disease 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C0016049
Disease: Fibromatosis, Gingival
Fibromatosis, Gingival 		disease 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		phenotype 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		disease 0.100 None 0 0