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: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		phenotype 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		group 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C0575157
Disease: Deformity of spine
Deformity of spine 		disease 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C0556280
Disease: Gross motor impairment
Gross motor impairment 		phenotype 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		phenotype 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		disease 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis 		disease 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C1261470
Disease: Congenital meningocele
Congenital meningocele 		disease 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C1277187
Disease: Left ventricular systolic dysfunction
Left ventricular systolic dysfunction 		disease 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		disease 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C1839666
Disease: Calf muscle pseudohypertrophy
Calf muscle pseudohypertrophy 		phenotype 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C1859341
Disease: Olivopontocerebellar hypoplasia
Olivopontocerebellar hypoplasia 		phenotype 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C1859692
Disease: Decreased cervical spine mobility
Decreased cervical spine mobility 		phenotype 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C4022771
Disease: Decreased thalamic volume
Decreased thalamic volume 		phenotype 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C4022916
Disease: Abnormal aldolase level
Abnormal aldolase level 		phenotype 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C4024809
Disease: Chorioretinal dysplasia
Chorioretinal dysplasia 		disease 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C4024905
Disease: Abnormality of the pons
Abnormality of the pons 		disease 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C4024923
Disease: Diffuse white matter abnormalities
Diffuse white matter abnormalities 		disease 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C4024965
Disease: Frontal cortical atrophy
Frontal cortical atrophy 		disease 0.100 None 0 0