Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		0.100 Biomarker phenotype HPO
CUI: C1842688
Disease: Hypoplasia of the brainstem
Hypoplasia of the brainstem 		0.100 Biomarker phenotype HPO
CUI: C1849172
Disease: Frontal lobe hypoplasia
Frontal lobe hypoplasia 		0.100 Biomarker phenotype HPO
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		0.100 Biomarker phenotype HPO
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		0.100 Biomarker phenotype HPO
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		0.100 Biomarker phenotype HPO
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly 		0.100 Biomarker disease HPO
CUI: C2749675
Disease: Cortical gyral simplification
Cortical gyral simplification 		0.100 Biomarker phenotype HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		0.100 Biomarker phenotype HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group HPO
CUI: C4014891
Disease: Renal abnormalities
Renal abnormalities 		0.100 CausalMutation phenotype CLINVAR
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology 		0.100 Biomarker disease HPO
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation phenotype CLINVAR
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 Biomarker disease BEFREE [123I]beta-CIT striatal binding was normal in DRD, whereas it was markedly decreased in PD and JPD. 9629849 1998
CUI: C1851920
Disease: Dopa-Responsive Dystonia
Dopa-Responsive Dystonia 		0.010 Biomarker disease BEFREE [123I]beta-CIT striatal binding was normal in DRD, whereas it was markedly decreased in PD and JPD. 9629849 1998
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.320 Biomarker disease RGD Characterization of seizures in the flathead rat: a new genetic model of epilepsy in early postnatal development. 10219263 1999
CUI: C0270824
Disease: Visual seizure
Visual seizure 		0.200 Biomarker disease RGD Characterization of seizures in the flathead rat: a new genetic model of epilepsy in early postnatal development. 10219263 1999
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.040 Biomarker disease BEFREE The measurement of 5-HT1A receptors in drug-naïve schizophrenic patients using the in vivo PET methodology revealed an increase of cortical 5-HT1A receptor binding potential in schizophrenia. beta-CIT as a ligand for measurement of 5-HT transporter densities (5-HTT) revealed lower rates in depression compared to age- and sex-matching healthy controls, a measurement that has also been obtained for bulimia. 12478878 2002
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.040 Biomarker disease BEFREE The measurement of 5-HT1A receptors in drug-naïve schizophrenic patients using the in vivo PET methodology revealed an increase of cortical 5-HT1A receptor binding potential in schizophrenia. beta-CIT as a ligand for measurement of 5-HT transporter densities (5-HTT) revealed lower rates in depression compared to age- and sex-matching healthy controls, a measurement that has also been obtained for bulimia. 12478878 2002
CUI: C0344315
Disease: Depressed mood
Depressed mood 		0.040 Biomarker phenotype BEFREE The measurement of 5-HT1A receptors in drug-naïve schizophrenic patients using the in vivo PET methodology revealed an increase of cortical 5-HT1A receptor binding potential in schizophrenia. beta-CIT as a ligand for measurement of 5-HT transporter densities (5-HTT) revealed lower rates in depression compared to age- and sex-matching healthy controls, a measurement that has also been obtained for bulimia. 12478878 2002
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.030 Biomarker disease BEFREE The measurement of 5-HT1A receptors in drug-naïve schizophrenic patients using the in vivo PET methodology revealed an increase of cortical 5-HT1A receptor binding potential in schizophrenia. beta-CIT as a ligand for measurement of 5-HT transporter densities (5-HTT) revealed lower rates in depression compared to age- and sex-matching healthy controls, a measurement that has also been obtained for bulimia. 12478878 2002
CUI: C0006370
Disease: Bulimia
Bulimia 		0.010 Biomarker disease BEFREE The measurement of 5-HT1A receptors in drug-naïve schizophrenic patients using the in vivo PET methodology revealed an increase of cortical 5-HT1A receptor binding potential in schizophrenia. beta-CIT as a ligand for measurement of 5-HT transporter densities (5-HTT) revealed lower rates in depression compared to age- and sex-matching healthy controls, a measurement that has also been obtained for bulimia. 12478878 2002
CUI: C2267227
Disease: Bulimia Nervosa
Bulimia Nervosa 		0.010 Biomarker disease BEFREE The measurement of 5-HT1A receptors in drug-naïve schizophrenic patients using the in vivo PET methodology revealed an increase of cortical 5-HT1A receptor binding potential in schizophrenia. beta-CIT as a ligand for measurement of 5-HT transporter densities (5-HTT) revealed lower rates in depression compared to age- and sex-matching healthy controls, a measurement that has also been obtained for bulimia. 12478878 2002