Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225249
Disease: MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease UNIPROT A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. 25259927 2014
CUI: C4225249
Disease: MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. 25259927 2014
CUI: C4225249
Disease: MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease CTD_human
CUI: C4225249
Disease: MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 CausalMutation disease CLINVAR
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.310 GeneticVariation disease BEFREE Sixteen genes (MCPH1-MCPH16) have been discovered so far, mutations thereof lead to autosomal recessive primary microcephaly. 27519304 2016
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.310 GermlineCausalMutation disease ORPHANET A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. 25259927 2014
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.120 Biomarker disease BEFREE We show that loss of Ankle2, a protein associated with microcephaly in humans and known to interact with Zika protein NS4A, reduces brain volume in flies and impacts the function of the Par complex. 31735666 2019
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.120 Biomarker disease BEFREE Finally, we identified a ZIKV-specific interaction between NS4A and ANKLE2, a gene linked to hereditary microcephaly, and showed that ZIKV NS4A causes microcephaly in Drosophila in an ANKLE2-dependent manner. 30550790 2018
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.120 Biomarker disease HPO
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.100 GeneticVariation phenotype GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.100 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO
CUI: C0033377
Disease: Ptosis
Ptosis 		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: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		0.100 Biomarker phenotype HPO
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney 		0.100 Biomarker disease HPO