TRAIP, TRAF interacting protein, 10293

N. diseases: 77; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.610 Biomarker disease CTD_human TRAIP is necessary for efficient cell cycle progression and mutations in TRAIP therefore limit cellular proliferation, providing a potential mechanism for microcephaly and dwarfism phenotypes. 26595769 2016
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.610 GeneticVariation disease BEFREE TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. 26595769 2016
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.610 Biomarker disease GENOMICS_ENGLAND TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. 26595769 2016
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.610 Biomarker disease CTD_human TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. 26595769 2016
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.610 Biomarker disease BEFREE TRAIP is necessary for efficient cell cycle progression and mutations in TRAIP therefore limit cellular proliferation, providing a potential mechanism for microcephaly and dwarfism phenotypes. 26595769 2016
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.610 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.610 Biomarker disease GENOMICS_ENGLAND
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.610 Biomarker disease HPO
CUI: C4225212
Disease: SECKEL SYNDROME 9
SECKEL SYNDROME 9 		0.600 Biomarker disease GENOMICS_ENGLAND Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach. 30914295 2019
CUI: C4225212
Disease: SECKEL SYNDROME 9
SECKEL SYNDROME 9 		0.600 GeneticVariation disease UNIPROT TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. 26595769 2016
CUI: C4225212
Disease: SECKEL SYNDROME 9
SECKEL SYNDROME 9 		0.600 Biomarker disease GENOMICS_ENGLAND TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. 26595769 2016
CUI: C4225212
Disease: SECKEL SYNDROME 9
SECKEL SYNDROME 9 		0.600 Biomarker disease GENOMICS_ENGLAND TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. 26595769 2016
CUI: C4225212
Disease: SECKEL SYNDROME 9
SECKEL SYNDROME 9 		0.600 CausalMutation disease CLINVAR
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.510 Biomarker disease BEFREE Nucleolar residence of the seckel syndrome protein TRAIP is coupled to ribosomal DNA transcription. 30165463 2018
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.510 Biomarker disease GENOMICS_ENGLAND Here we report the identification of mutations in TRAIP, encoding an E3 RING ubiquitin ligase, in patients with microcephalic primordial dwarfism. 26595769 2016
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.510 GermlineCausalMutation disease ORPHANET Here we report the identification of mutations in TRAIP, encoding an E3 RING ubiquitin ligase, in patients with microcephalic primordial dwarfism. 26595769 2016
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		0.310 GeneticVariation disease BEFREE TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. 26595769 2016
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		0.310 Biomarker disease GENOMICS_ENGLAND
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.300 Biomarker disease CTD_human Computational Discovery of Niclosamide Ethanolamine, a Repurposed Drug Candidate That Reduces Growth of Hepatocellular Carcinoma Cells In Vitro and in Mice by Inhibiting Cell Division Cycle 37 Signaling. 28284560 2017
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.300 Biomarker disease GENOMICS_ENGLAND TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. 26595769 2016
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly 		0.300 Biomarker disease CTD_human TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. 26595769 2016
CUI: C3808988
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q
FANCONI ANEMIA, COMPLEMENTATION GROUP Q 		0.300 Biomarker disease GENOMICS_ENGLAND TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. 26595769 2016
CUI: C3853041
Disease: Severe Congenital Microcephaly
Severe Congenital Microcephaly 		0.300 Biomarker disease CTD_human TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. 26595769 2016
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: C0021704
Disease: Intelligence
Intelligence 		0.100 GeneticVariation phenotype GWASCAT A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence. 29326435 2019