Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		0.620 Biomarker disease HPO
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0.600 Biomarker disease HPO
CUI: C1867146
Disease: Robinow Sorauf syndrome
Robinow Sorauf syndrome 		0.600 Biomarker disease CTD_human
CUI: C1867146
Disease: Robinow Sorauf syndrome
Robinow Sorauf syndrome 		0.600 CausalMutation disease CLINVAR
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.500 GeneticVariation disease CLINVAR
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.500 Biomarker disease HPO
CUI: C4540299
Disease: SWEENEY-COX SYNDROME
SWEENEY-COX SYNDROME 		0.420 CausalMutation disease CLINVAR
CUI: C1833340
Disease: Synostotic Posterior Plagiocephaly
Synostotic Posterior Plagiocephaly 		0.410 Biomarker disease HPO
CUI: C0030044
Disease: Acrocephaly
Acrocephaly 		0.400 Biomarker disease HPO
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly 		0.400 Biomarker disease HPO
CUI: C1863370
Disease: Saethre-Chotzen Syndrome with Eyelid Anomalies
Saethre-Chotzen Syndrome with Eyelid Anomalies 		0.400 CausalMutation disease CLINVAR
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.200 Biomarker disease HPO
CUI: C1856266
Disease: Coronal craniosynostosis
Coronal craniosynostosis 		0.140 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 Biomarker disease HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.120 GeneticVariation disease CLINVAR
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.120 Biomarker disease HPO
CUI: C0033377
Disease: Ptosis
Ptosis 		0.120 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.120 Biomarker group HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.110 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 Biomarker disease HPO
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.110 Biomarker disease HPO
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0.100 Biomarker phenotype HPO
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		0.100 Biomarker disease HPO
CUI: C0005747
Disease: Blepharospasm
Blepharospasm 		0.100 Biomarker disease HPO
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		0.100 Biomarker disease HPO