PUS7, pseudouridine synthase 7, 54517

N. diseases: 26; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 GeneticVariation group BEFREE We describe two families in which two different homozygous PUS7 mutations (missense and frameshift deletion) segregate with a phenotype comprising intellectual disability and progressive microcephaly. 30778726 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker group BEFREE In this study, we establish Pseudouridine synthase 7 (PUS7), a nuclear protein involved in stem cell development and intellectual disabilities, as a novel interactor of SIRT1. 31451225 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker group GENOMICS_ENGLAND Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior. 30526862 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 GeneticVariation group BEFREE Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior. 30526862 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker group HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.410 GeneticVariation disease BEFREE We describe two families in which two different homozygous PUS7 mutations (missense and frameshift deletion) segregate with a phenotype comprising intellectual disability and progressive microcephaly. 30778726 2019
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.410 Biomarker disease GENOMICS_ENGLAND Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior. 30526862 2018
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.410 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.400 Biomarker disease GENOMICS_ENGLAND Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior. 30526862 2018
CUI: C0349588
Disease: Short stature
Short stature 		0.400 Biomarker phenotype GENOMICS_ENGLAND Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior. 30526862 2018
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.400 Biomarker phenotype GENOMICS_ENGLAND Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior. 30526862 2018
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.400 Biomarker disease HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.400 Biomarker phenotype HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.400 Biomarker phenotype HPO
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.300 Biomarker phenotype GENOMICS_ENGLAND Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior. 30526862 2018
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0.100 Biomarker phenotype HPO
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.100 Biomarker disease HPO
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker disease HPO
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		0.100 Biomarker phenotype HPO
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 Biomarker disease HPO
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 Biomarker phenotype HPO
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		0.100 Biomarker phenotype HPO
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 Biomarker disease HPO