Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809039
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 		0.700 Biomarker disease GENOMICS_ENGLAND A novel 8-bp duplication in ADAT3 causes mild intellectual disability. 29796286 2018
CUI: C3809039
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 		0.700 Biomarker disease GENOMICS_ENGLAND A novel 8-bp duplication in ADAT3 causes mild intellectual disability. 29796286 2018
CUI: C3809039
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 		0.700 GermlineCausalMutation disease ORPHANET Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus. 23620220 2013
CUI: C3809039
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 		0.700 GeneticVariation disease UNIPROT Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus. 23620220 2013
CUI: C3809039
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 		0.700 CausalMutation disease CLINVAR
CUI: C3809039
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 		0.700 Biomarker disease CTD_human
CUI: C3809039
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 		0.700 GeneticVariation disease CLINVAR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.300 GeneticVariation disease UNIPROT
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.130 GeneticVariation group BEFREE Here, we show that cell lines derived from ID-affected individuals expressing only ADAT3-V144M exhibit decreased wobble inosine in certain tRNAs. 31263000 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.130 Biomarker group BEFREE A new case confirming and expanding the phenotype spectrum of ADAT3-related intellectual disability syndrome. 30296593 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.130 Biomarker group BEFREE ADAT3-related intellectual disability is an important recognizable cause of intellectual disability in Arabia. 26842963 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.130 Biomarker group HPO
CUI: C0038379
Disease: Strabismus
Strabismus 		0.110 Biomarker disease BEFREE ADAT3-related intellectual disability has been recently described in 24 individuals from eight Saudi families who had cognitive impairment and strabismus. 26842963 2016
CUI: C0038379
Disease: Strabismus
Strabismus 		0.110 GeneticVariation disease CLINVAR
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0014877
Disease: Esotropia
Esotropia 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.100 Biomarker disease HPO
CUI: C0239676
Disease: High forehead
High forehead 		0.100 Biomarker phenotype HPO
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		0.100 Biomarker disease HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		0.100 Biomarker phenotype HPO
CUI: C0423113
Disease: Telecanthus
Telecanthus 		0.100 Biomarker phenotype HPO
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 Biomarker disease HPO