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: 10059
Gene Symbol: DNM1L
DNM1L 		dynamin 1 like 0.475 0.808 5.7E-04
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		disease 0.420 None 0.667 0 0 2007 2017
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L 		dynamin 1 like 0.475 0.808 5.7E-04
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.410 None 1.000 0 0 2007 2016
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L 		dynamin 1 like 0.475 0.808 5.7E-04
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		phenotype 0.400 None 1.000 0 0 2007 2007
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L 		dynamin 1 like 0.475 0.808 5.7E-04
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		group 0.150 None 1.000 0 0 2016 2019
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L 		dynamin 1 like 0.475 0.808 5.7E-04
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group 0.130 None 1.000 0 0 2017 2018
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L 		dynamin 1 like 0.475 0.808 5.7E-04
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.120 None 1.000 0 0 2016 2018
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L 		dynamin 1 like 0.475 0.808 5.7E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L 		dynamin 1 like 0.475 0.808 5.7E-04
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L 		dynamin 1 like 0.475 0.808 5.7E-04
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype 0.110 None 1.000 0 0 2018 2018
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L 		dynamin 1 like 0.475 0.808 5.7E-04
CUI: C2673431
Disease: Abnormality of the periventricular white matter
Abnormality of the periventricular white matter 		disease 0.100 None 0 0
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L 		dynamin 1 like 0.475 0.808 5.7E-04
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype 0.100 None 0 0
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L 		dynamin 1 like 0.475 0.808 5.7E-04
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype 0.100 None 0 0
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L 		dynamin 1 like 0.475 0.808 5.7E-04
CUI: C0497327
Disease: Dementia
Dementia 		disease 0.100 None 0 0
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L 		dynamin 1 like 0.475 0.808 5.7E-04
CUI: C0431370
Disease: Atrophy of corpus callosum
Atrophy of corpus callosum 		disease 0.100 None 0 0
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L 		dynamin 1 like 0.475 0.808 5.7E-04
CUI: C0427055
Disease: Facial Paresis
Facial Paresis 		phenotype 0.100 None 0 0
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L 		dynamin 1 like 0.475 0.808 5.7E-04
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		phenotype 0.100 None 0 0
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L 		dynamin 1 like 0.475 0.808 5.7E-04
CUI: C0344299
Disease: Temporal pallor of optic disc
Temporal pallor of optic disc 		disease 0.100 None 0 0
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L 		dynamin 1 like 0.475 0.808 5.7E-04
CUI: C0271385
Disease: Horizontal Nystagmus
Horizontal Nystagmus 		disease 0.100 None 0 0
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L 		dynamin 1 like 0.475 0.808 5.7E-04
CUI: C0271270
Disease: Oculovestibuloauditory syndrome
Oculovestibuloauditory syndrome 		disease 0.100 None 0 0
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L 		dynamin 1 like 0.475 0.808 5.7E-04
CUI: C0240953
Disease: Winged scapula
Winged scapula 		phenotype 0.100 None 0 0
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L 		dynamin 1 like 0.475 0.808 5.7E-04
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		group 0.100 None 0 0
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L 		dynamin 1 like 0.475 0.808 5.7E-04
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L 		dynamin 1 like 0.475 0.808 5.7E-04
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.100 None 1.000 0 0 2016 2016
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L 		dynamin 1 like 0.475 0.808 5.7E-04
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype 0.100 None 0 0
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L 		dynamin 1 like 0.475 0.808 5.7E-04
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype 0.100 None 0 0