Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.100 Biomarker disease HPO
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		0.100 Biomarker disease HPO
CUI: C0080174
Disease: Spina Bifida Occulta
Spina Bifida Occulta 		0.100 Biomarker disease HPO
CUI: C0086543
Disease: Cataract
Cataract 		0.100 Biomarker disease HPO
CUI: C0151311
Disease: Cranial nerve palsies
Cranial nerve palsies 		0.100 Biomarker disease HPO
CUI: C0151811
Disease: Subcutaneous nodule
Subcutaneous nodule 		0.100 Biomarker phenotype HPO
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.100 Biomarker disease HPO
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0231679
Disease: Ulnar deviation of the fingers
Ulnar deviation of the fingers 		0.100 Biomarker phenotype HPO
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		0.100 Biomarker disease HPO
CUI: C0238207
Disease: Ectopic kidney
Ectopic kidney 		0.100 Biomarker disease HPO
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		0.100 Biomarker disease HPO
CUI: C0240880
Disease: Rectoperineal fistula
Rectoperineal fistula 		0.100 Biomarker disease HPO
CUI: C0240896
Disease: Fundus coloboma
Fundus coloboma 		0.100 Biomarker disease HPO
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		0.100 Biomarker disease HPO
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		0.100 Biomarker disease HPO
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney 		0.100 Biomarker disease HPO
CUI: C0266345
Disease: Congenital urethral valve
Congenital urethral valve 		0.100 Biomarker disease HPO
CUI: C0266383
Disease: Uterine Anomalies
Uterine Anomalies 		0.100 Biomarker group HPO
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		0.100 Biomarker disease HPO
CUI: C0266501
Disease: Spina bifida of cervical region
Spina bifida of cervical region 		0.100 Biomarker disease HPO
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		0.100 Biomarker disease HPO
CUI: C0341787
Disease: Bifid scrotum
Bifid scrotum 		0.100 Biomarker disease HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		0.100 Biomarker phenotype HPO