NUP133, nucleoporin 133, 55746

N. diseases: 50; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748549
Disease: NEPHROTIC SYNDROME, TYPE 18
NEPHROTIC SYNDROME, TYPE 18 		0.600 GeneticVariation disease UNIPROT Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. 30179222 2018
CUI: C4748549
Disease: NEPHROTIC SYNDROME, TYPE 18
NEPHROTIC SYNDROME, TYPE 18 		0.600 GeneticVariation disease CLINVAR Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. 30179222 2018
CUI: C4748549
Disease: NEPHROTIC SYNDROME, TYPE 18
NEPHROTIC SYNDROME, TYPE 18 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. 30179222 2018
CUI: C4748549
Disease: NEPHROTIC SYNDROME, TYPE 18
NEPHROTIC SYNDROME, TYPE 18 		0.600 Biomarker disease GENOMICS_ENGLAND Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome. 30427554 2018
CUI: C4748549
Disease: NEPHROTIC SYNDROME, TYPE 18
NEPHROTIC SYNDROME, TYPE 18 		0.600 CausalMutation disease CLINVAR
CUI: C0795949
Disease: Galloway Mowat syndrome
Galloway Mowat syndrome 		0.310 GermlineCausalMutation disease ORPHANET A nup133-knockdown zebrafish model exhibited microcephaly, fewer neuronal cells, underdeveloped glomeruli, and fusion of the foot processes of the podocytes, which mimicked human GAMOS features. nup133 morphants could be rescued by human wild-type NUP133 mRNA but not by mutant mRNA. 30427554 2018
CUI: C0795949
Disease: Galloway Mowat syndrome
Galloway Mowat syndrome 		0.310 GeneticVariation disease BEFREE Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome. 30427554 2018
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		0.300 GermlineCausalMutation disease ORPHANET Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. 30179222 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.300 GeneticVariation disease UNIPROT
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.110 AlteredExpression group BEFREE On the other hand, nup133 downregulation results in proteinuria and moderate foot process effacement, mimicking some of the abnormalities typically featured by patients with nephrotic syndrome. 30894603 2019
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 Biomarker disease BEFREE A nup133-knockdown zebrafish model exhibited microcephaly, fewer neuronal cells, underdeveloped glomeruli, and fusion of the foot processes of the podocytes, which mimicked human GAMOS features. nup133 morphants could be rescued by human wild-type NUP133 mRNA but not by mutant mRNA. 30427554 2018
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 Biomarker disease HPO
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.110 Biomarker group HPO
CUI: C0011351
Disease: Dental Enamel Hypoplasia
Dental Enamel Hypoplasia 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.100 Biomarker phenotype HPO
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.100 Biomarker disease HPO
CUI: C0018965
Disease: Hematuria
Hematuria 		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: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		0.100 Biomarker phenotype HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0033687
Disease: Proteinuria
Proteinuria 		0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO