Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.430 Biomarker disease BEFREE Therefore, UFD1L may participate in the core cognitive deficits observed in schizophrenia. 23623450 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.430 Biomarker disease PSYGENET Therefore, UFD1L may participate in the core cognitive deficits observed in schizophrenia. 23623450 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.430 GeneticVariation disease LHGDN A family- and population-based study of the UFD1L gene for schizophrenia. 18270977 2008
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.430 Biomarker disease PSYGENET A family- and population-based study of the UFD1L gene for schizophrenia. 18270977 2008
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.430 GeneticVariation disease BEFREE A family- and population-based study of the UFD1L gene for schizophrenia. 18270977 2008
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.430 Biomarker disease BEFREE The results are supportive of UFD1L involvement in the neurodevelopmental origin of schizophrenia and contribute in delineating etiological and pathogenetic mechanism of the schizophrenia subtype related to 22q11.2 deletion syndrome. 11496370 2001
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.430 Biomarker disease HPO
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.330 Biomarker disease BEFREE Although the UFD1L gene has been mapped in the region commonly deleted in patients with DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), correlation between its haploinsufficiency and the phenotype has not yet been established. 11574150 2001
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.330 Biomarker disease BEFREE UFD1L and CDC45L: a role in DiGeorge syndrome and related phenotypes? 10390621 1999
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.330 AlteredExpression disease BEFREE UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome. 9063746 1997
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.330 ChromosomalRearrangement disease ORPHANET
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		0.320 Biomarker disease BEFREE Although the UFD1L gene has been mapped in the region commonly deleted in patients with DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), correlation between its haploinsufficiency and the phenotype has not yet been established. 11574150 2001
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.320 AlteredExpression disease BEFREE UFD1L, a gene that is downregulated in dHAND-deficient mice, expressed in the mouse embryo at the branchial arch and mapped to human chromosome 22q11, has recently been strongly suspected to be responsible for the phenotypes expressed in 22q11 deletion syndromes. 11485030 2001
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.320 Biomarker disease BEFREE The human UFD1L gene was deleted in all 182 patients studied with 22q11 deletion, and a smaller deletion of approximately 20 kilobases that removed exons 1 to 3 of UFD1L was found in one individual with features typical of 22q11 deletion syndrome. 10024240 1999
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		0.320 GeneticVariation disease BEFREE We describe here a new gene called NLVCF, which maps to the critical region for VCFS on 22q11 between the genes HIRA and UFD1L. 9790763 1998
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		0.320 ChromosomalRearrangement disease ORPHANET
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.320 ChromosomalRearrangement disease ORPHANET
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.300 Biomarker group CTD_human A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. 10024240 1999
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.300 Biomarker group CTD_human A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. 10024240 1999
CUI: C0431406
Disease: Asymmetric crying face association
Asymmetric crying face association 		0.300 ChromosomalRearrangement disease ORPHANET
CUI: C0795907
Disease: CONOTRUNCAL ANOMALY FACE SYNDROME
CONOTRUNCAL ANOMALY FACE SYNDROME 		0.300 ChromosomalRearrangement disease ORPHANET
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		0.300 ChromosomalRearrangement disease ORPHANET
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.120 GeneticVariation disease BEFREE Our data suggest that, although the UFD1L gene is mapped to 22q11 and is expressed during early murine development at both cardiac and cranial neural crests, it is not responsible for the majority of tetralogy of Fallot cases in humans. 11485030 2001
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.120 Biomarker disease BEFREE The SRO in TF patients with del22q11 was at or close to the ADU breakpoint and centromeric to the UFD1L gene. 11455393 2001
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.120 Biomarker disease HPO