WDR45, WD repeat domain 45, 11152

N. diseases: 72; N. variants: 31
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3550973
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 		0.800 Biomarker disease CTD_human
CUI: C2931845
Disease: Neurodegeneration with brain iron accumulation (NBIA)
Neurodegeneration with brain iron accumulation (NBIA) 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0013421
Disease: Dystonia
Dystonia 		0.420 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.160 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.160 CausalMutation disease CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.140 CausalMutation phenotype CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.140 Biomarker phenotype HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.130 Biomarker group HPO
CUI: C0497327
Disease: Dementia
Dementia 		0.120 Biomarker disease HPO
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.110 Biomarker disease HPO
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.110 Biomarker group HPO
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		0.110 GeneticVariation disease CLINVAR
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0.100 Biomarker phenotype HPO
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		0.100 Biomarker disease HPO
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.100 Biomarker phenotype HPO
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		0.100 Biomarker phenotype HPO
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.100 Biomarker disease HPO
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.100 Biomarker phenotype HPO
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.100 Biomarker phenotype HPO
CUI: C0040822
Disease: Tremor
Tremor 		0.100 Biomarker phenotype HPO
CUI: C0233565
Disease: Bradykinesia
Bradykinesia 		0.100 Biomarker phenotype HPO
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 CausalMutation disease CLINVAR
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 CausalMutation phenotype CLINVAR
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		0.100 Biomarker phenotype HPO
CUI: C0700201
Disease: Dyssomnias
Dyssomnias 		0.100 Biomarker disease HPO