WDR4, WD repeat domain 4, 10785

N. diseases: 72; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.420 GeneticVariation disease BEFREE Mutations in the human N<sup>7</sup>-methylguanosine (m<sup>7</sup>G) methyltransferase complex METTL1/WDR4 cause primordial dwarfism and brain malformation, yet the molecular and cellular function in mammals is not well understood. 29983320 2018
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.420 Biomarker disease BEFREE In this study, we present two novel WDR4 mutations responsible for PD in a 6-year-old patient, expanding the molecular and phenotype spectrum of WDR4-related PD. 29597095 2018
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.420 Biomarker disease GENOMICS_ENGLAND Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism. 26416026 2015
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.420 Biomarker disease HPO
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		0.320 Biomarker disease BEFREE In this study, we present two novel WDR4 mutations responsible for PD in a 6-year-old patient, expanding the molecular and phenotype spectrum of WDR4-related PD. 29597095 2018
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		0.320 GeneticVariation disease BEFREE Mutations in the human N<sup>7</sup>-methylguanosine (m<sup>7</sup>G) methyltransferase complex METTL1/WDR4 cause primordial dwarfism and brain malformation, yet the molecular and cellular function in mammals is not well understood. 29983320 2018
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		0.320 Biomarker disease GENOMICS_ENGLAND Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism. 26416026 2015
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.310 Biomarker disease GENOMICS_ENGLAND Speech and language delay in a patient with WDR4 mutations. 29597095 2018
CUI: C0795949
Disease: Galloway Mowat syndrome
Galloway Mowat syndrome 		0.310 Biomarker disease BEFREE Furthermore, WDR4 is an additional example of a gene that encodes a tRNA modifying enzyme and gives rise to GAMOS, if mutated. 30079490 2018
CUI: C0795949
Disease: Galloway Mowat syndrome
Galloway Mowat syndrome 		0.310 GermlineCausalMutation disease ORPHANET Furthermore, WDR4 is an additional example of a gene that encodes a tRNA modifying enzyme and gives rise to GAMOS, if mutated. 30079490 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 GeneticVariation group BEFREE In line with previous reports, we observe growth deficiency, microcephaly, developmental delay, and intellectual disability as phenotypic features resulting from WDR4 mutations. 30079490 2018
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.310 GeneticVariation disease BEFREE Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism. 26416026 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.310 Biomarker group GENOMICS_ENGLAND Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism. 26416026 2015
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		0.300 Biomarker disease GENOMICS_ENGLAND Speech and language delay in a patient with WDR4 mutations. 29597095 2018
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 GeneticVariation disease BEFREE The description of these 2 sisters allow us to confirm that biallelic variants in the WDR4 gene can lead to a specific phenotype, characterized by severe growth retardation and microcephaly. 28617965 2018
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.110 GeneticVariation group BEFREE However, the newly identified allele additionally gives rise to proteinuria and nephrotic syndrome, a phenotype that was never reported in patients with WDR4 mutations. 30079490 2018
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 Biomarker disease HPO
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.110 Biomarker group HPO
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.100 GeneticVariation phenotype GWASCAT Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants. 28270201 2017
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.100 Biomarker phenotype HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker phenotype HPO
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.100 Biomarker group HPO
CUI: C0024433
Disease: Macrostomia
Macrostomia 		0.100 Biomarker disease HPO