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: 8818
Gene Symbol: DPM2
DPM2 		dolichyl-phosphate mannosyltransferase subunit 2, regulatory 0.666 0.500 0.32
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.400 moderate 1.000 0 0 2016 2016
Entrez Id: 8818
Gene Symbol: DPM2
DPM2 		dolichyl-phosphate mannosyltransferase subunit 2, regulatory 0.666 0.500 0.32
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		phenotype 0.100 None 0 0
Entrez Id: 8818
Gene Symbol: DPM2
DPM2 		dolichyl-phosphate mannosyltransferase subunit 2, regulatory 0.666 0.500 0.32
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype 0.100 None 0 0
Entrez Id: 8818
Gene Symbol: DPM2
DPM2 		dolichyl-phosphate mannosyltransferase subunit 2, regulatory 0.666 0.500 0.32
CUI: C1854114
Disease: Short nose
Short nose 		phenotype 0.100 None 0 0
Entrez Id: 8818
Gene Symbol: DPM2
DPM2 		dolichyl-phosphate mannosyltransferase subunit 2, regulatory 0.666 0.500 0.32
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		phenotype 0.100 None 0 0
Entrez Id: 8818
Gene Symbol: DPM2
DPM2 		dolichyl-phosphate mannosyltransferase subunit 2, regulatory 0.666 0.500 0.32
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype 0.100 None 0 0
Entrez Id: 8818
Gene Symbol: DPM2
DPM2 		dolichyl-phosphate mannosyltransferase subunit 2, regulatory 0.666 0.500 0.32
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly 		phenotype 0.100 None 0 0
Entrez Id: 8818
Gene Symbol: DPM2
DPM2 		dolichyl-phosphate mannosyltransferase subunit 2, regulatory 0.666 0.500 0.32
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		phenotype 0.100 None 0 0
Entrez Id: 8818
Gene Symbol: DPM2
DPM2 		dolichyl-phosphate mannosyltransferase subunit 2, regulatory 0.666 0.500 0.32
CUI: C1839797
Disease: Deep philtrum
Deep philtrum 		phenotype 0.100 None 0 0
Entrez Id: 8818
Gene Symbol: DPM2
DPM2 		dolichyl-phosphate mannosyltransferase subunit 2, regulatory 0.666 0.500 0.32
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 8818
Gene Symbol: DPM2
DPM2 		dolichyl-phosphate mannosyltransferase subunit 2, regulatory 0.666 0.500 0.32
CUI: C1838319
Disease: Primitive reflexes (palmomental, snout, glabellar)
Primitive reflexes (palmomental, snout, glabellar) 		phenotype 0.100 None 0 0
Entrez Id: 8818
Gene Symbol: DPM2
DPM2 		dolichyl-phosphate mannosyltransferase subunit 2, regulatory 0.666 0.500 0.32
CUI: C1837899
Disease: Type I transferrin isoform profile
Type I transferrin isoform profile 		phenotype 0.100 None 0 0
Entrez Id: 8818
Gene Symbol: DPM2
DPM2 		dolichyl-phosphate mannosyltransferase subunit 2, regulatory 0.666 0.500 0.32
CUI: C1855333
Disease: External genital hypoplasia
External genital hypoplasia 		phenotype 0.100 None 0 0
Entrez Id: 8818
Gene Symbol: DPM2
DPM2 		dolichyl-phosphate mannosyltransferase subunit 2, regulatory 0.666 0.500 0.32
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 8818
Gene Symbol: DPM2
DPM2 		dolichyl-phosphate mannosyltransferase subunit 2, regulatory 0.666 0.500 0.32
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 8818
Gene Symbol: DPM2
DPM2 		dolichyl-phosphate mannosyltransferase subunit 2, regulatory 0.666 0.500 0.32
CUI: C4024928
Disease: Absent smooth pursuit
Absent smooth pursuit 		phenotype 0.100 None 0 0
Entrez Id: 8818
Gene Symbol: DPM2
DPM2 		dolichyl-phosphate mannosyltransferase subunit 2, regulatory 0.666 0.500 0.32
CUI: C4023499
Disease: Generalized clonic seizures
Generalized clonic seizures 		disease 0.100 None 0 0
Entrez Id: 8818
Gene Symbol: DPM2
DPM2 		dolichyl-phosphate mannosyltransferase subunit 2, regulatory 0.666 0.500 0.32
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		disease 0.100 None 0 0
Entrez Id: 8818
Gene Symbol: DPM2
DPM2 		dolichyl-phosphate mannosyltransferase subunit 2, regulatory 0.666 0.500 0.32
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		disease 0.100 None 0 0
Entrez Id: 8818
Gene Symbol: DPM2
DPM2 		dolichyl-phosphate mannosyltransferase subunit 2, regulatory 0.666 0.500 0.32
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		phenotype 0.100 None 0 0
Entrez Id: 8818
Gene Symbol: DPM2
DPM2 		dolichyl-phosphate mannosyltransferase subunit 2, regulatory 0.666 0.500 0.32
CUI: C2749688
Disease: Abnormal isoelectric focusing of serum transferrin
Abnormal isoelectric focusing of serum transferrin 		phenotype 0.100 None 0 0
Entrez Id: 8818
Gene Symbol: DPM2
DPM2 		dolichyl-phosphate mannosyltransferase subunit 2, regulatory 0.666 0.500 0.32
CUI: C2673431
Disease: Abnormality of the periventricular white matter
Abnormality of the periventricular white matter 		disease 0.100 None 0 0
Entrez Id: 8818
Gene Symbol: DPM2
DPM2 		dolichyl-phosphate mannosyltransferase subunit 2, regulatory 0.666 0.500 0.32
CUI: C1969156
Disease: EEG with burst suppression
EEG with burst suppression 		phenotype 0.100 None 0 0
Entrez Id: 8818
Gene Symbol: DPM2
DPM2 		dolichyl-phosphate mannosyltransferase subunit 2, regulatory 0.666 0.500 0.32
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		phenotype 0.100 None 0 0
Entrez Id: 8818
Gene Symbol: DPM2
DPM2 		dolichyl-phosphate mannosyltransferase subunit 2, regulatory 0.666 0.500 0.32
CUI: C1859698
Disease: Contractures of the large joints
Contractures of the large joints 		phenotype 0.100 None 0 0