CEP135, centrosomal protein 135, 9662

N. diseases: 31; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553414
Disease: MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE 		0.600 Biomarker disease GENOMICS_ENGLAND A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function. 22521416 2012
CUI: C3553414
Disease: MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE 		0.600 Biomarker disease CTD_human
CUI: C3553414
Disease: MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3553414
Disease: MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE 		0.600 CausalMutation disease CLINVAR
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		0.310 GeneticVariation disease BEFREE A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function. 22521416 2012
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.310 GeneticVariation disease BEFREE Our findings suggest an additional locus for MCPH at HSA 4q12 (MCPH8), further strengthen the role of centrosomes in the development of MCPH, and place CEP135 among the essential components of this important organelle in particular for a normal neurogenesis. 22521416 2012
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		0.310 Biomarker disease GENOMICS_ENGLAND
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.310 GermlineCausalMutation disease ORPHANET
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.100 Biomarker disease HPO
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		0.100 Biomarker disease HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney 		0.100 Biomarker disease HPO
CUI: C0266483
Disease: Pachygyria
Pachygyria 		0.100 Biomarker disease HPO
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia 		0.100 Biomarker disease HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		0.100 Biomarker phenotype HPO
CUI: C1849172
Disease: Frontal lobe hypoplasia
Frontal lobe hypoplasia 		0.100 Biomarker phenotype HPO
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		0.100 Biomarker phenotype HPO
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		0.100 Biomarker phenotype HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO