TPRKB, TP53RK binding protein, 51002

N. diseases: 54; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0375206
Disease: Hemiplegia/hemiparesis
Hemiplegia/hemiparesis 		0.100 Biomarker disease HPO
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		0.100 Biomarker disease HPO
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		0.100 Biomarker phenotype HPO
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		0.100 Biomarker phenotype HPO
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 Biomarker phenotype HPO
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		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
CUI: C0878575
Disease: Peripheral demyelination
Peripheral demyelination 		0.100 Biomarker phenotype HPO
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 Biomarker phenotype HPO
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		0.100 Biomarker phenotype HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis 		0.100 Biomarker disease HPO
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		0.100 Biomarker phenotype HPO
CUI: C3489393
Disease: Hiatal Hernia
Hiatal Hernia 		0.100 Biomarker disease HPO
CUI: C3554617
Disease: Adducted thumb
Adducted thumb 		0.100 Biomarker phenotype HPO
CUI: C4021986
Disease: Hypoplasia of the ear cartilage
Hypoplasia of the ear cartilage 		0.100 Biomarker phenotype HPO
CUI: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		0.100 Biomarker phenotype HPO
CUI: C4025249
Disease: Abnormality of the intervertebral disk
Abnormality of the intervertebral disk 		0.100 Biomarker disease HPO
CUI: C4551584
Disease: Brain atrophy
Brain atrophy 		0.100 Biomarker disease HPO
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C4540274
Disease: GALLOWAY-MOWAT SYNDROME 5
GALLOWAY-MOWAT SYNDROME 5 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. 28805828 2017
CUI: C4540274
Disease: GALLOWAY-MOWAT SYNDROME 5
GALLOWAY-MOWAT SYNDROME 5 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. 28805828 2017
CUI: C4540274
Disease: GALLOWAY-MOWAT SYNDROME 5
GALLOWAY-MOWAT SYNDROME 5 		0.600 GeneticVariation disease UNIPROT Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. 28805828 2017
CUI: C0795949
Disease: Galloway Mowat syndrome
Galloway Mowat syndrome 		0.520 Biomarker disease CTD_human Here we identified recessive mutations in OSGEP, TP53RK, TPRKB, and LAGE3, genes encoding the four subunits of the KEOPS complex, in 37 individuals from 32 families with GAMOS. 28805828 2017