Source: ALL

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: 8813
Gene Symbol: DPM1
DPM1 		dolichyl-phosphate mannosyltransferase subunit 1, catalytic 0.695 0.385 1.6E-04
CUI: C1837396
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie 		disease 0.730 None 1.000 7 7 2000 2016
Entrez Id: 8813
Gene Symbol: DPM1
DPM1 		dolichyl-phosphate mannosyltransferase subunit 1, catalytic 0.695 0.385 1.6E-04
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		group 0.330 strong 1.000 3 1 2000 2017
Entrez Id: 8813
Gene Symbol: DPM1
DPM1 		dolichyl-phosphate mannosyltransferase subunit 1, catalytic 0.695 0.385 1.6E-04
CUI: C4317224
Disease: Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type 1q 		disease 0.300 strong 1.000 1 0 2000 2000
Entrez Id: 8813
Gene Symbol: DPM1
DPM1 		dolichyl-phosphate mannosyltransferase subunit 1, catalytic 0.695 0.385 1.6E-04
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype 0.100 None 0 0
Entrez Id: 8813
Gene Symbol: DPM1
DPM1 		dolichyl-phosphate mannosyltransferase subunit 1, catalytic 0.695 0.385 1.6E-04
CUI: C1837899
Disease: Type I transferrin isoform profile
Type I transferrin isoform profile 		phenotype 0.100 None 0 0
Entrez Id: 8813
Gene Symbol: DPM1
DPM1 		dolichyl-phosphate mannosyltransferase subunit 1, catalytic 0.695 0.385 1.6E-04
CUI: C1837406
Disease: Hypoplasia involving bones of the upper limbs
Hypoplasia involving bones of the upper limbs 		phenotype 0.100 None 0 0
Entrez Id: 8813
Gene Symbol: DPM1
DPM1 		dolichyl-phosphate mannosyltransferase subunit 1, catalytic 0.695 0.385 1.6E-04
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		phenotype 0.100 None 0 0
Entrez Id: 8813
Gene Symbol: DPM1
DPM1 		dolichyl-phosphate mannosyltransferase subunit 1, catalytic 0.695 0.385 1.6E-04
CUI: C1837402
Disease: Flat occiput
Flat occiput 		phenotype 0.100 None 0 0
Entrez Id: 8813
Gene Symbol: DPM1
DPM1 		dolichyl-phosphate mannosyltransferase subunit 1, catalytic 0.695 0.385 1.6E-04
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 8813
Gene Symbol: DPM1
DPM1 		dolichyl-phosphate mannosyltransferase subunit 1, catalytic 0.695 0.385 1.6E-04
CUI: C0240671
Disease: Partial thromboplastin time increased (finding)
Partial thromboplastin time increased (finding) 		phenotype 0.100 None 0 0
Entrez Id: 8813
Gene Symbol: DPM1
DPM1 		dolichyl-phosphate mannosyltransferase subunit 1, catalytic 0.695 0.385 1.6E-04
CUI: C1836696
Disease: Lower limb hyperreflexia
Lower limb hyperreflexia 		phenotype 0.100 None 0 0
Entrez Id: 8813
Gene Symbol: DPM1
DPM1 		dolichyl-phosphate mannosyltransferase subunit 1, catalytic 0.695 0.385 1.6E-04
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 8813
Gene Symbol: DPM1
DPM1 		dolichyl-phosphate mannosyltransferase subunit 1, catalytic 0.695 0.385 1.6E-04
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia 		disease 0.100 None 0 0
Entrez Id: 8813
Gene Symbol: DPM1
DPM1 		dolichyl-phosphate mannosyltransferase subunit 1, catalytic 0.695 0.385 1.6E-04
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		phenotype 0.100 None 0 0
Entrez Id: 8813
Gene Symbol: DPM1
DPM1 		dolichyl-phosphate mannosyltransferase subunit 1, catalytic 0.695 0.385 1.6E-04
CUI: C1843108
Disease: Short palm
Short palm 		phenotype 0.100 None 0 0
Entrez Id: 8813
Gene Symbol: DPM1
DPM1 		dolichyl-phosphate mannosyltransferase subunit 1, catalytic 0.695 0.385 1.6E-04
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly 		phenotype 0.100 None 0 0
Entrez Id: 8813
Gene Symbol: DPM1
DPM1 		dolichyl-phosphate mannosyltransferase subunit 1, catalytic 0.695 0.385 1.6E-04
CUI: C4520679
Disease: Abnormal macular morphology
Abnormal macular morphology 		phenotype 0.100 None 0 0
Entrez Id: 8813
Gene Symbol: DPM1
DPM1 		dolichyl-phosphate mannosyltransferase subunit 1, catalytic 0.695 0.385 1.6E-04
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		phenotype 0.100 None 0 0
Entrez Id: 8813
Gene Symbol: DPM1
DPM1 		dolichyl-phosphate mannosyltransferase subunit 1, catalytic 0.695 0.385 1.6E-04
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		disease 0.100 None 0 0
Entrez Id: 8813
Gene Symbol: DPM1
DPM1 		dolichyl-phosphate mannosyltransferase subunit 1, catalytic 0.695 0.385 1.6E-04
CUI: C4025284
Disease: Reduced protein S activity
Reduced protein S activity 		phenotype 0.100 None 0 0
Entrez Id: 8813
Gene Symbol: DPM1
DPM1 		dolichyl-phosphate mannosyltransferase subunit 1, catalytic 0.695 0.385 1.6E-04
CUI: C3810365
Disease: Central visual impairment
Central visual impairment 		disease 0.100 None 0 0
Entrez Id: 8813
Gene Symbol: DPM1
DPM1 		dolichyl-phosphate mannosyltransferase subunit 1, catalytic 0.695 0.385 1.6E-04
CUI: C3279947
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 		disease 0.100 None 0 0
Entrez Id: 8813
Gene Symbol: DPM1
DPM1 		dolichyl-phosphate mannosyltransferase subunit 1, catalytic 0.695 0.385 1.6E-04
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype 0.100 None 0 0
Entrez Id: 8813
Gene Symbol: DPM1
DPM1 		dolichyl-phosphate mannosyltransferase subunit 1, catalytic 0.695 0.385 1.6E-04
CUI: C1962966
Disease: Retinopathy, CTCAE
Retinopathy, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 8813
Gene Symbol: DPM1
DPM1 		dolichyl-phosphate mannosyltransferase subunit 1, catalytic 0.695 0.385 1.6E-04
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype 0.100 None 0 0