Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3810080
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 		0.700 Biomarker disease GENOMICS_ENGLAND Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204 2015
CUI: C3810080
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 		0.700 GermlineCausalMutation disease ORPHANET Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2. 24084144 2013
CUI: C3810080
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 		0.700 GeneticVariation disease UNIPROT Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2. 24084144 2013
CUI: C3810080
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 		0.700 GeneticVariation disease UNIPROT Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C3810080
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 		0.700 Biomarker disease CTD_human
CUI: C3810080
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 		0.700 CausalMutation disease CLINVAR
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 GeneticVariation group BEFREE A single missense mutation in TAF2 in a family with microcephaly and intellectual disability was described in a large-scale study reporting on the identification of 50 novel genes. 24084144 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 Biomarker group BEFREE The candidate region includes 22 known or predicted genes, including RAD21, which is related to the cohesion complex EIF3H, which is involved in translation initiation, and TAF2, which may be involved in intellectual disability. 22633631 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 Biomarker group CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 Biomarker group HPO
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		0.300 Biomarker phenotype CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.100 Biomarker phenotype HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		0.100 Biomarker phenotype HPO
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly 		0.100 Biomarker phenotype HPO
CUI: C1848207
Disease: Poor speech
Poor speech 		0.100 Biomarker phenotype HPO
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C0019348
Disease: Herpes Simplex Infections
Herpes Simplex Infections 		0.010 Biomarker group BEFREE The TAF2 and ACV release rates and resulting vaginal tissue drug concentrations (medians: TFV, 2.4 ng mg-1; ACV, 0.2 ng mg-1) may be sufficient to protect against HIV and HSV infection, respectively. 28982161 2017
CUI: C1096903
Disease: Sialic Acid Storage Disease, Finnish Type (disorder)
Sialic Acid Storage Disease, Finnish Type (disorder) 		0.010 Biomarker disease BEFREE The TAF2-SD-treated rats showed significantly twofold (p < 0.001) and fourfold (p < 0.001) higher sperm count than did TAF2-treated and vehicle-treated (control) rats, respectively. 28948658 2017