Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280240
Disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME
MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 		0.710 CausalMutation disease CLINVAR
CUI: C3280240
Disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME
MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 		0.710 Biomarker disease CTD_human
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		0.310 Biomarker disease GENOMICS_ENGLAND
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.120 Biomarker group HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0022346
Disease: Icterus
Icterus 		0.100 Biomarker phenotype HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0033377
Disease: Ptosis
Ptosis 		0.100 Biomarker disease HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 Biomarker disease HPO
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		0.100 Biomarker phenotype HPO
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		0.100 Biomarker phenotype HPO
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		0.100 Biomarker phenotype HPO
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		0.100 Biomarker phenotype HPO
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 Biomarker phenotype HPO
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		0.100 Biomarker phenotype HPO
CUI: C1866231
Disease: Full cheeks
Full cheeks 		0.100 Biomarker phenotype HPO
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		0.100 Biomarker disease HPO
CUI: C2673700
Disease: Brisk reflexes
Brisk reflexes 		0.100 Biomarker phenotype HPO
CUI: C2749675
Disease: Cortical gyral simplification
Cortical gyral simplification 		0.100 Biomarker phenotype HPO
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		0.100 Biomarker disease HPO
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		0.100 Biomarker phenotype HPO
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		0.100 Biomarker disease HPO