Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker group GENOMICS_ENGLAND Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders. 23376982 2013
CUI: C0018564
Disease: Hand deformities
Hand deformities 		0.300 Biomarker group GENOMICS_ENGLAND Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice. 9449664 1998
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.300 Biomarker disease GENOMICS_ENGLAND Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice. 9449664 1998
CUI: C0158489
Disease: Acquired clubfoot
Acquired clubfoot 		0.300 Biomarker disease GENOMICS_ENGLAND Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice. 9449664 1998
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0026034
Disease: Microstomia
Microstomia 		0.100 Biomarker disease HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker disease HPO
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 Biomarker disease HPO
CUI: C0426415
Disease: Large nose
Large nose 		0.100 Biomarker phenotype HPO
CUI: C0431890
Disease: Hypoplasia of thumb
Hypoplasia of thumb 		0.100 Biomarker disease HPO
CUI: C0549306
Disease: Mesomelia
Mesomelia 		0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0575803
Disease: Radial deviation of hand
Radial deviation of hand 		0.100 Biomarker phenotype HPO
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		0.100 Biomarker disease HPO
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger 		0.100 Biomarker phenotype HPO
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		0.100 Biomarker phenotype HPO
CUI: C1839546
Disease: Microretrognathia
Microretrognathia 		0.100 Biomarker phenotype HPO
CUI: C1849350
Disease: Cleft lower alveolar ridge
Cleft lower alveolar ridge 		0.100 Biomarker phenotype HPO
CUI: C1849357
Disease: Abnormality of the aryepiglottic fold
Abnormality of the aryepiglottic fold 		0.100 Biomarker disease HPO
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.100 Biomarker disease HPO
CUI: C1855285
Disease: Protruding ear
Protruding ear 		0.100 Biomarker phenotype HPO
CUI: C1865572
Disease: Proximal placement of thumb
Proximal placement of thumb 		0.100 Biomarker phenotype HPO
CUI: C3806533
Disease: Tibial deviation of toes
Tibial deviation of toes 		0.100 Biomarker disease HPO
CUI: C4021776
Disease: Abnormality of the voice
Abnormality of the voice 		0.100 Biomarker disease HPO