Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310723
Disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 CausalMutation disease CLINVAR
CUI: C4310723
Disease: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease CTD_human
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.400 CausalMutation disease CLINVAR
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.320 Biomarker disease HPO
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.110 Biomarker disease HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.110 Biomarker phenotype HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.100 CausalMutation group CLINVAR
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		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: C0152421
Disease: Macrotia
Macrotia 		0.100 Biomarker disease HPO
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		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: 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: C1609433
Disease: Congenital absence of kidneys syndrome
Congenital absence of kidneys syndrome 		0.100 Biomarker disease HPO