CTU2, cytosolic thiouridylase subunit 2, 348180

N. diseases: 38; N. variants: 7
Disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME ×
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