CTU2, cytosolic thiouridylase subunit 2, 348180

N. diseases: 38; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748348
Disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME
MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME 		0.400 Biomarker disease GENOMICS_ENGLAND Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34. 31301155 2019
CUI: C4748348
Disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME
MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME 		0.400 Biomarker disease GENOMICS_ENGLAND Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort. 26633546 2016
CUI: C4748348
Disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME
MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME 		0.400 Biomarker disease GENOMICS_ENGLAND Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort. 26633546 2016
CUI: C4748348
Disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME
MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME 		0.400 CausalMutation disease CLINVAR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.300 Biomarker disease CTD_human Elp3 links tRNA modification to IRES-dependent translation of LEF1 to sustain metastasis in breast cancer. 27811057 2016
CUI: C0027626
Disease: Neoplasm Invasiveness
Neoplasm Invasiveness 		0.300 Biomarker phenotype CTD_human Elp3 links tRNA modification to IRES-dependent translation of LEF1 to sustain metastasis in breast cancer. 27811057 2016
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.300 Biomarker phenotype CTD_human Elp3 links tRNA modification to IRES-dependent translation of LEF1 to sustain metastasis in breast cancer. 27811057 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.300 Biomarker disease CTD_human Elp3 links tRNA modification to IRES-dependent translation of LEF1 to sustain metastasis in breast cancer. 27811057 2016
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human 		0.300 Biomarker disease CTD_human Elp3 links tRNA modification to IRES-dependent translation of LEF1 to sustain metastasis in breast cancer. 27811057 2016
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.300 Biomarker group CTD_human Elp3 links tRNA modification to IRES-dependent translation of LEF1 to sustain metastasis in breast cancer. 27811057 2016
CUI: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human 		0.300 Biomarker disease CTD_human Elp3 links tRNA modification to IRES-dependent translation of LEF1 to sustain metastasis in breast cancer. 27811057 2016
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Hundreds of variants clustered in genomic loci and biological pathways affect human height. 20881960 2010
CUI: C0489786
Disease: Height
Height 		0.100 GeneticVariation phenotype GWASDB Hundreds of variants clustered in genomic loci and biological pathways affect human height. 20881960 2010
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.100 Biomarker disease HPO
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.100 Biomarker phenotype HPO
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 Biomarker group HPO
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 Biomarker group HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker phenotype HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0152421
Disease: Macrotia
Macrotia 		0.100 Biomarker disease HPO
CUI: C0220697
Disease: POLYDACTYLY, POSTAXIAL
POLYDACTYLY, POSTAXIAL 		0.100 Biomarker disease HPO
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0.100 Biomarker disease HPO
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker disease HPO