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: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C1865596
Disease: Desmosterolosis
Desmosterolosis 		disease 0.790 None 1.000 0 5 2000 2019
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.130 None 1.000 0 0 2017 2019
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		disease 0.110 None 1.000 0 0 2010 2010
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C0005890
Disease: Body Height
Body Height 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C1843331
Disease: Generalized osteosclerosis
Generalized osteosclerosis 		phenotype 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C1844573
Disease: Large earlobe
Large earlobe 		phenotype 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (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: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		disease 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C1837835
Disease: Bilateral talipes equinovarus
Bilateral talipes equinovarus 		phenotype 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed 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: C1609433
Disease: Congenital absence of kidneys syndrome
Congenital absence of kidneys syndrome 		disease 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C1301937
Disease: Talipes
Talipes 		disease 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C1854114
Disease: Short nose
Short nose 		phenotype 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		phenotype 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		phenotype 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C4551905
Disease: Pulmonary Venous Return Anomaly
Pulmonary Venous Return Anomaly 		disease 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C4551903
Disease: Total anomalous pulmonary venous return
Total anomalous pulmonary venous return 		disease 0.100 None 0 0
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		24-dehydrocholesterol reductase 0.498 0.769 3.1E-02
CUI: C4551488
Disease: Bifid uvula
Bifid uvula 		disease 0.100 None 0 0