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: 727676
Gene Symbol: SNORD118
SNORD118 		small nucleolar RNA, C/D box 118 0.686 0.462
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		group 0.120 None 1.000 0 0 2016 2017
Entrez Id: 727676
Gene Symbol: SNORD118
SNORD118 		small nucleolar RNA, C/D box 118 0.686 0.462
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype 0.100 None 0 0
Entrez Id: 727676
Gene Symbol: SNORD118
SNORD118 		small nucleolar RNA, C/D box 118 0.686 0.462
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 727676
Gene Symbol: SNORD118
SNORD118 		small nucleolar RNA, C/D box 118 0.686 0.462
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype 0.100 None 0 0
Entrez Id: 727676
Gene Symbol: SNORD118
SNORD118 		small nucleolar RNA, C/D box 118 0.686 0.462
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		group 0.100 None 0 0
Entrez Id: 727676
Gene Symbol: SNORD118
SNORD118 		small nucleolar RNA, C/D box 118 0.686 0.462
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 727676
Gene Symbol: SNORD118
SNORD118 		small nucleolar RNA, C/D box 118 0.686 0.462
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification 		phenotype 0.100 None 0 0
Entrez Id: 727676
Gene Symbol: SNORD118
SNORD118 		small nucleolar RNA, C/D box 118 0.686 0.462
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		phenotype 0.100 None 0 0
Entrez Id: 727676
Gene Symbol: SNORD118
SNORD118 		small nucleolar RNA, C/D box 118 0.686 0.462
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		phenotype 0.100 None 0 0
Entrez Id: 727676
Gene Symbol: SNORD118
SNORD118 		small nucleolar RNA, C/D box 118 0.686 0.462
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign 		phenotype 0.100 None 0 0
Entrez Id: 727676
Gene Symbol: SNORD118
SNORD118 		small nucleolar RNA, C/D box 118 0.686 0.462
CUI: C0040822
Disease: Tremor
Tremor 		phenotype 0.100 None 0 0
Entrez Id: 727676
Gene Symbol: SNORD118
SNORD118 		small nucleolar RNA, C/D box 118 0.686 0.462
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.100 None 0 0
Entrez Id: 727676
Gene Symbol: SNORD118
SNORD118 		small nucleolar RNA, C/D box 118 0.686 0.462
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.100 None 0 0
Entrez Id: 727676
Gene Symbol: SNORD118
SNORD118 		small nucleolar RNA, C/D box 118 0.686 0.462
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		disease 0.100 None 0 0
Entrez Id: 727676
Gene Symbol: SNORD118
SNORD118 		small nucleolar RNA, C/D box 118 0.686 0.462
CUI: C0018991
Disease: Hemiplegia
Hemiplegia 		phenotype 0.100 None 0 0
Entrez Id: 727676
Gene Symbol: SNORD118
SNORD118 		small nucleolar RNA, C/D box 118 0.686 0.462
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.100 None 0 0
Entrez Id: 727676
Gene Symbol: SNORD118
SNORD118 		small nucleolar RNA, C/D box 118 0.686 0.462
CUI: C0013362
Disease: Dysarthria
Dysarthria 		disease 0.100 None 0 0
Entrez Id: 727676
Gene Symbol: SNORD118
SNORD118 		small nucleolar RNA, C/D box 118 0.686 0.462
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype 0.100 None 0 0