Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.780 Biomarker disease HPO
CUI: C1857802
Disease: MORM syndrome
MORM syndrome 		0.720 CausalMutation disease CLINVAR
CUI: C1857802
Disease: MORM syndrome
MORM syndrome 		0.720 Biomarker disease CTD_human
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group HPO
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.320 Biomarker disease GENOMICS_ENGLAND
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.110 Biomarker disease HPO
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		0.110 Biomarker disease HPO
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		0.110 Biomarker disease HPO
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0.100 Biomarker phenotype HPO
CUI: C0003578
Disease: Apnea
Apnea 		0.100 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 Biomarker disease HPO
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 CausalMutation disease CLINVAR
CUI: C0009714
Disease: Hepatic Fibrosis, Congenital
Hepatic Fibrosis, Congenital 		0.100 Biomarker disease HPO
CUI: C0011813
Disease: Dextrocardia
Dextrocardia 		0.100 Biomarker disease HPO
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.100 CausalMutation disease CLINVAR
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		0.100 Biomarker disease HPO
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		0.100 Biomarker disease HPO
CUI: C0016506
Disease: Foot Deformities
Foot Deformities 		0.100 Biomarker group HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 Biomarker phenotype HPO
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		0.100 Biomarker phenotype HPO
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.100 Biomarker disease HPO
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.100 Biomarker disease HPO