Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310702
Disease: ALAZAMI-YUAN SYNDROME
ALAZAMI-YUAN SYNDROME 		0.700 GeneticVariation disease UNIPROT Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 25558065 2015
CUI: C4310702
Disease: ALAZAMI-YUAN SYNDROME
ALAZAMI-YUAN SYNDROME 		0.700 GeneticVariation disease UNIPROT Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. 25574841 2015
CUI: C4310702
Disease: ALAZAMI-YUAN SYNDROME
ALAZAMI-YUAN SYNDROME 		0.700 Biomarker disease GENOMICS_ENGLAND Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. 25574841 2015
CUI: C4310702
Disease: ALAZAMI-YUAN SYNDROME
ALAZAMI-YUAN SYNDROME 		0.700 CausalMutation disease CLINVAR
CUI: C4310702
Disease: ALAZAMI-YUAN SYNDROME
ALAZAMI-YUAN SYNDROME 		0.700 Biomarker disease CTD_human
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group GENOMICS_ENGLAND Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. 25574841 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group HPO
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: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0019572
Disease: Hirsutism
Hirsutism 		0.100 Biomarker phenotype HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0026034
Disease: Microstomia
Microstomia 		0.100 Biomarker disease HPO
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding 		0.100 Biomarker phenotype HPO
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 Biomarker disease HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.100 Biomarker phenotype HPO
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0426415
Disease: Large nose
Large nose 		0.100 Biomarker phenotype HPO
CUI: C0431447
Disease: Synophrys
Synophrys 		0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 GeneticVariation disease CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae 		0.100 Biomarker phenotype HPO
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		0.100 Biomarker phenotype HPO
CUI: C1848207
Disease: Poor speech
Poor speech 		0.100 Biomarker phenotype HPO