Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225310
Disease: MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease CLINVAR
CUI: C4225310
Disease: MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease CTD_human
CUI: C4225310
Disease: MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 CausalMutation disease CLINVAR
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.450 Biomarker disease HPO
CUI: C0337443
Disease: Sodium measurement
Sodium measurement 		0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C1879645
Disease: Adverse Event by CTCAE Category
Adverse Event by CTCAE Category 		0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype 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: C0231687
Disease: Spastic gait
Spastic gait 		0.100 Biomarker phenotype HPO
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney 		0.100 Biomarker disease HPO
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		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: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		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: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 GeneticVariation disease CLINVAR
CUI: C0575059
Disease: Spastic tetraparesis
Spastic tetraparesis 		0.100 Biomarker disease HPO
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		0.100 Biomarker phenotype HPO