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: 440138
Gene Symbol: ALG11
ALG11 		ALG11 alpha-1,2-mannosyltransferase 0.722 0.346 6.2E-09
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		disease 0.100 None 0 0
Entrez Id: 440138
Gene Symbol: ALG11
ALG11 		ALG11 alpha-1,2-mannosyltransferase 0.722 0.346 6.2E-09
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		phenotype 0.100 None 0 0
Entrez Id: 440138
Gene Symbol: ALG11
ALG11 		ALG11 alpha-1,2-mannosyltransferase 0.722 0.346 6.2E-09
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype 0.100 None 0 0
Entrez Id: 440138
Gene Symbol: ALG11
ALG11 		ALG11 alpha-1,2-mannosyltransferase 0.722 0.346 6.2E-09
CUI: C1846151
Disease: Widened subarachnoid space
Widened subarachnoid space 		phenotype 0.100 None 0 0
Entrez Id: 440138
Gene Symbol: ALG11
ALG11 		ALG11 alpha-1,2-mannosyltransferase 0.722 0.346 6.2E-09
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting 		phenotype 0.100 None 0 0
Entrez Id: 440138
Gene Symbol: ALG11
ALG11 		ALG11 alpha-1,2-mannosyltransferase 0.722 0.346 6.2E-09
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		phenotype 0.100 None 0 0
Entrez Id: 440138
Gene Symbol: ALG11
ALG11 		ALG11 alpha-1,2-mannosyltransferase 0.722 0.346 6.2E-09
CUI: C1837899
Disease: Type I transferrin isoform profile
Type I transferrin isoform profile 		phenotype 0.100 None 0 0
Entrez Id: 440138
Gene Symbol: ALG11
ALG11 		ALG11 alpha-1,2-mannosyltransferase 0.722 0.346 6.2E-09
CUI: C1820737
Disease: Temperature instability
Temperature instability 		phenotype 0.100 None 0 0
Entrez Id: 440138
Gene Symbol: ALG11
ALG11 		ALG11 alpha-1,2-mannosyltransferase 0.722 0.346 6.2E-09
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.100 None 0 0
Entrez Id: 440138
Gene Symbol: ALG11
ALG11 		ALG11 alpha-1,2-mannosyltransferase 0.722 0.346 6.2E-09
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype 0.100 None 0 0
Entrez Id: 440138
Gene Symbol: ALG11
ALG11 		ALG11 alpha-1,2-mannosyltransferase 0.722 0.346 6.2E-09
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 440138
Gene Symbol: ALG11
ALG11 		ALG11 alpha-1,2-mannosyltransferase 0.722 0.346 6.2E-09
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		disease 0.100 None 0 0
Entrez Id: 440138
Gene Symbol: ALG11
ALG11 		ALG11 alpha-1,2-mannosyltransferase 0.722 0.346 6.2E-09
CUI: C4021524
Disease: Abnormal adipose tissue morphology
Abnormal adipose tissue morphology 		disease 0.100 None 0 0
Entrez Id: 440138
Gene Symbol: ALG11
ALG11 		ALG11 alpha-1,2-mannosyltransferase 0.722 0.346 6.2E-09
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.100 None 0 0
Entrez Id: 440138
Gene Symbol: ALG11
ALG11 		ALG11 alpha-1,2-mannosyltransferase 0.722 0.346 6.2E-09
CUI: C3494422
Disease: Retrognathia
Retrognathia 		disease 0.100 None 0 0
Entrez Id: 440138
Gene Symbol: ALG11
ALG11 		ALG11 alpha-1,2-mannosyltransferase 0.722 0.346 6.2E-09
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		disease 0.100 None 0 0
Entrez Id: 440138
Gene Symbol: ALG11
ALG11 		ALG11 alpha-1,2-mannosyltransferase 0.722 0.346 6.2E-09
CUI: C1969156
Disease: EEG with burst suppression
EEG with burst suppression 		phenotype 0.100 None 0 0
Entrez Id: 440138
Gene Symbol: ALG11
ALG11 		ALG11 alpha-1,2-mannosyltransferase 0.722 0.346 6.2E-09
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 440138
Gene Symbol: ALG11
ALG11 		ALG11 alpha-1,2-mannosyltransferase 0.722 0.346 6.2E-09
CUI: C1865014
Disease: Long philtrum
Long philtrum 		phenotype 0.100 None 0 0
Entrez Id: 440138
Gene Symbol: ALG11
ALG11 		ALG11 alpha-1,2-mannosyltransferase 0.722 0.346 6.2E-09
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		phenotype 0.100 None 0 0
Entrez Id: 440138
Gene Symbol: ALG11
ALG11 		ALG11 alpha-1,2-mannosyltransferase 0.722 0.346 6.2E-09
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 440138
Gene Symbol: ALG11
ALG11 		ALG11 alpha-1,2-mannosyltransferase 0.722 0.346 6.2E-09
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 0
Entrez Id: 440138
Gene Symbol: ALG11
ALG11 		ALG11 alpha-1,2-mannosyltransferase 0.722 0.346 6.2E-09
CUI: C0150080
Disease: Social Communication Disorder
Social Communication Disorder 		disease 0.100 None 0 0
Entrez Id: 440138
Gene Symbol: ALG11
ALG11 		ALG11 alpha-1,2-mannosyltransferase 0.722 0.346 6.2E-09
CUI: C0086439
Disease: Hypokinesia
Hypokinesia 		phenotype 0.100 None 0 0
Entrez Id: 440138
Gene Symbol: ALG11
ALG11 		ALG11 alpha-1,2-mannosyltransferase 0.722 0.346 6.2E-09
CUI: C0042963
Disease: Vomiting
Vomiting 		phenotype 0.100 None 0 0