Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3275508
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 		0.710 GeneticVariation disease CLINVAR
CUI: C3275508
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 		0.710 GermlineCausalMutation disease ORPHANET
CUI: C3275508
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 		0.710 CausalMutation disease CLINVAR
CUI: C3275508
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 		0.710 Biomarker disease CTD_human
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 		0.700 Biomarker disease HPO
CUI: C3806670
Disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1 		0.600 CausalMutation disease CLINVAR
CUI: C3806670
Disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.400 Biomarker disease HPO
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.200 Biomarker disease HPO
CUI: C0239849
Disease: Harlequin Fetus
Harlequin Fetus 		0.200 Biomarker disease MGD
CUI: C0598226
Disease: Harlequin type ichthyosis
Harlequin type ichthyosis 		0.200 Biomarker disease MGD
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.170 Biomarker group HPO
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.130 Biomarker disease HPO
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.120 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker disease HPO
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.100 Biomarker phenotype HPO
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.100 Biomarker disease HPO
CUI: C0002962
Disease: Angina Pectoris
Angina Pectoris 		0.100 Biomarker phenotype HPO
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack 		0.100 Biomarker disease HPO
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.100 Biomarker group HPO
CUI: C0015672
Disease: Fatigue
Fatigue 		0.100 Biomarker phenotype HPO
CUI: C0017639
Disease: Gliosis
Gliosis 		0.100 Biomarker phenotype HPO
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 Biomarker group HPO
CUI: C0019048
Disease: Hemoglobinuria
Hemoglobinuria 		0.100 Biomarker disease HPO
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.100 Biomarker disease HPO