CEP152, centrosomal protein 152, 22995

N. diseases: 66; N. variants: 32
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE
0.700 CausalMutation disease CLINVAR
MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE
0.700 Biomarker disease CTD_human
MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE
0.700 GeneticVariation disease CLINVAR
MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE
0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome
0.410 GeneticVariation disease CLINVAR
Autosomal Recessive Primary Microcephaly
0.320 GermlineCausalMutation disease ORPHANET
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
0.310 Biomarker disease GENOMICS_ENGLAND
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior
0.100 Biomarker phenotype HPO
CUI: C0006625
Disease: Cachexia
Cachexia
0.100 Biomarker phenotype HPO
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
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: C0017601
Disease: Glaucoma
Glaucoma
0.100 Biomarker disease HPO
CUI: C0020608
Disease: Hypodontia
Hypodontia
0.100 Biomarker disease HPO
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior
0.100 Biomarker phenotype HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.100 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism
0.100 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
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: C0240538
Disease: Convex nasal ridge
Convex nasal ridge
0.100 Biomarker phenotype HPO
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
0.100 Biomarker disease HPO
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney
0.100 Biomarker disease HPO