DNM1L, dynamin 1 like, 10059

N. diseases: 273; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853139
Disease: OPTIC ATROPHY 5 (disorder)
OPTIC ATROPHY 5 (disorder) 		0.700 GeneticVariation disease CLINVAR
CUI: C1853139
Disease: OPTIC ATROPHY 5 (disorder)
OPTIC ATROPHY 5 (disorder) 		0.700 Biomarker disease CTD_human
CUI: C3280660
Disease: ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3280660
Disease: ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 		0.700 Biomarker disease CTD_human
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.420 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.410 Biomarker disease HPO
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.400 Biomarker phenotype HPO
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.210 Biomarker group MGD
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.150 Biomarker group HPO
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.130 Biomarker group HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.120 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.110 Biomarker phenotype HPO
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.110 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker disease HPO
CUI: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic 		0.100 Biomarker disease HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0009398
Disease: Color vision defect
Color vision defect 		0.100 Biomarker phenotype HPO
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.100 Biomarker group HPO
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0015672
Disease: Fatigue
Fatigue 		0.100 Biomarker phenotype HPO
CUI: C0018524
Disease: Hallucinations
Hallucinations 		0.100 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0018989
Disease: Hemiparesis
Hemiparesis 		0.100 Biomarker phenotype HPO
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		0.100 Biomarker disease HPO