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: 9871
Gene Symbol: SEC24D
SEC24D 		SEC24 homolog D, COPII coat complex component 0.663 0.577 1.3E-07
CUI: C4225382
Disease: COLE-CARPENTER SYNDROME 2
COLE-CARPENTER SYNDROME 2 		disease 0.600 moderate 1.000 0 3 2015 2017
Entrez Id: 9871
Gene Symbol: SEC24D
SEC24D 		SEC24 homolog D, COPII coat complex component 0.663 0.577 1.3E-07
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		disease 0.100 None 1.000 1 2 2015 2015
Entrez Id: 9871
Gene Symbol: SEC24D
SEC24D 		SEC24 homolog D, COPII coat complex component 0.663 0.577 1.3E-07
CUI: C0542514
Disease: Blue sclera
Blue sclera 		phenotype 0.100 None 0 0
Entrez Id: 9871
Gene Symbol: SEC24D
SEC24D 		SEC24 homolog D, COPII coat complex component 0.663 0.577 1.3E-07
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype 0.100 None 0 1
Entrez Id: 9871
Gene Symbol: SEC24D
SEC24D 		SEC24 homolog D, COPII coat complex component 0.663 0.577 1.3E-07
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		disease 0.100 None 0 0
Entrez Id: 9871
Gene Symbol: SEC24D
SEC24D 		SEC24 homolog D, COPII coat complex component 0.663 0.577 1.3E-07
CUI: C1839546
Disease: Microretrognathia
Microretrognathia 		phenotype 0.100 None 0 0
Entrez Id: 9871
Gene Symbol: SEC24D
SEC24D 		SEC24 homolog D, COPII coat complex component 0.663 0.577 1.3E-07
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		phenotype 0.100 None 0 0
Entrez Id: 9871
Gene Symbol: SEC24D
SEC24D 		SEC24 homolog D, COPII coat complex component 0.663 0.577 1.3E-07
CUI: C0426818
Disease: Thin rib
Thin rib 		phenotype 0.100 None 0 0
Entrez Id: 9871
Gene Symbol: SEC24D
SEC24D 		SEC24 homolog D, COPII coat complex component 0.663 0.577 1.3E-07
CUI: C1835884
Disease: Triangular face
Triangular face 		phenotype 0.100 None 0 0
Entrez Id: 9871
Gene Symbol: SEC24D
SEC24D 		SEC24 homolog D, COPII coat complex component 0.663 0.577 1.3E-07
CUI: C1833340
Disease: Synostotic Posterior Plagiocephaly
Synostotic Posterior Plagiocephaly 		disease 0.100 None 0 0
Entrez Id: 9871
Gene Symbol: SEC24D
SEC24D 		SEC24 homolog D, COPII coat complex component 0.663 0.577 1.3E-07
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 9871
Gene Symbol: SEC24D
SEC24D 		SEC24 homolog D, COPII coat complex component 0.663 0.577 1.3E-07
CUI: C1836688
Disease: Narrow iliac wings
Narrow iliac wings 		phenotype 0.100 None 0 0
Entrez Id: 9871
Gene Symbol: SEC24D
SEC24D 		SEC24 homolog D, COPII coat complex component 0.663 0.577 1.3E-07
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		phenotype 0.100 None 0 0
Entrez Id: 9871
Gene Symbol: SEC24D
SEC24D 		SEC24 homolog D, COPII coat complex component 0.663 0.577 1.3E-07
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		phenotype 0.100 None 0 0
Entrez Id: 9871
Gene Symbol: SEC24D
SEC24D 		SEC24 homolog D, COPII coat complex component 0.663 0.577 1.3E-07
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		phenotype 0.100 None 0 0
Entrez Id: 9871
Gene Symbol: SEC24D
SEC24D 		SEC24 homolog D, COPII coat complex component 0.663 0.577 1.3E-07
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		disease 0.100 None 0 0
Entrez Id: 9871
Gene Symbol: SEC24D
SEC24D 		SEC24 homolog D, COPII coat complex component 0.663 0.577 1.3E-07
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		group 0.100 None 0 0
Entrez Id: 9871
Gene Symbol: SEC24D
SEC24D 		SEC24 homolog D, COPII coat complex component 0.663 0.577 1.3E-07
CUI: C4021776
Disease: Abnormality of the voice
Abnormality of the voice 		disease 0.100 None 0 0
Entrez Id: 9871
Gene Symbol: SEC24D
SEC24D 		SEC24 homolog D, COPII coat complex component 0.663 0.577 1.3E-07
CUI: C3805574
Disease: Increased fracture rate
Increased fracture rate 		phenotype 0.100 None 0 0
Entrez Id: 9871
Gene Symbol: SEC24D
SEC24D 		SEC24 homolog D, COPII coat complex component 0.663 0.577 1.3E-07
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		phenotype 0.100 None 0 0
Entrez Id: 9871
Gene Symbol: SEC24D
SEC24D 		SEC24 homolog D, COPII coat complex component 0.663 0.577 1.3E-07
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 9871
Gene Symbol: SEC24D
SEC24D 		SEC24 homolog D, COPII coat complex component 0.663 0.577 1.3E-07
CUI: C1970497
Disease: Crumpled long bones
Crumpled long bones 		phenotype 0.100 None 0 0
Entrez Id: 9871
Gene Symbol: SEC24D
SEC24D 		SEC24 homolog D, COPII coat complex component 0.663 0.577 1.3E-07
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation 		phenotype 0.100 None 0 0
Entrez Id: 9871
Gene Symbol: SEC24D
SEC24D 		SEC24 homolog D, COPII coat complex component 0.663 0.577 1.3E-07
CUI: C1856266
Disease: Coronal craniosynostosis
Coronal craniosynostosis 		disease 0.100 None 0 0
Entrez Id: 9871
Gene Symbol: SEC24D
SEC24D 		SEC24 homolog D, COPII coat complex component 0.663 0.577 1.3E-07
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype 0.100 None 0 0