Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0344490
Disease: Sacral agenesis
Sacral agenesis 		0.700 Biomarker disease HPO
CUI: C0344490
Disease: Sacral agenesis
Sacral agenesis 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0344490
Disease: Sacral agenesis
Sacral agenesis 		0.700 Biomarker disease CTD_human
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.600 Biomarker group GENOMICS_ENGLAND
CUI: C0300948
Disease: Caudal Regression Syndrome
Caudal Regression Syndrome 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0300948
Disease: Caudal Regression Syndrome
Caudal Regression Syndrome 		0.600 CausalMutation disease CLINVAR
CUI: C1838568
Disease: Sacral defect and anterior sacral meningocele
Sacral defect and anterior sacral meningocele 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C1838568
Disease: Sacral defect and anterior sacral meningocele
Sacral defect and anterior sacral meningocele 		0.600 Biomarker disease CTD_human
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.600 SusceptibilityMutation disease CLINVAR
CUI: C1838569
Disease: Caudal Dysgenesis Syndrome
Caudal Dysgenesis Syndrome 		0.500 Biomarker phenotype CTD_human
CUI: C1838569
Disease: Caudal Dysgenesis Syndrome
Caudal Dysgenesis Syndrome 		0.500 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0431415
Disease: Lumbosacral agenesis
Lumbosacral agenesis 		0.300 Biomarker disease CTD_human
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		0.110 Biomarker disease HPO
CUI: C0002902
Disease: Anencephaly
Anencephaly 		0.100 Biomarker disease HPO
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		0.100 Biomarker disease HPO
CUI: C0003803
Disease: Arnold Chiari Malformation
Arnold Chiari Malformation 		0.100 Biomarker disease HPO
CUI: C0004604
Disease: Back Pain
Back Pain 		0.100 Biomarker phenotype HPO
CUI: C0005697
Disease: Neurogenic Urinary Bladder
Neurogenic Urinary Bladder 		0.100 Biomarker disease HPO
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 Biomarker disease HPO
CUI: C0009806
Disease: Constipation
Constipation 		0.100 Biomarker phenotype HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0011649
Disease: Dermoid Cyst
Dermoid Cyst 		0.100 Biomarker disease HPO
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence 		0.100 Biomarker disease HPO
CUI: C0018681
Disease: Headache
Headache 		0.100 Biomarker phenotype HPO
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.100 Biomarker disease HPO