Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750075
Disease: Chondrodysplasia, Megarbane-Dagher-Melki Type
Chondrodysplasia, Megarbane-Dagher-Melki Type 		0.700 Biomarker disease GENOMICS_ENGLAND A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival. 27354339 2016
CUI: C2750075
Disease: Chondrodysplasia, Megarbane-Dagher-Melki Type
Chondrodysplasia, Megarbane-Dagher-Melki Type 		0.700 Biomarker disease GENOMICS_ENGLAND A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival. 27354339 2016
CUI: C2750075
Disease: Chondrodysplasia, Megarbane-Dagher-Melki Type
Chondrodysplasia, Megarbane-Dagher-Melki Type 		0.700 GermlineCausalMutation disease ORPHANET The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia. 24786642 2014
CUI: C2750075
Disease: Chondrodysplasia, Megarbane-Dagher-Melki Type
Chondrodysplasia, Megarbane-Dagher-Melki Type 		0.700 GeneticVariation disease UNIPROT The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia. 24786642 2014
CUI: C2750075
Disease: Chondrodysplasia, Megarbane-Dagher-Melki Type
Chondrodysplasia, Megarbane-Dagher-Melki Type 		0.700 CausalMutation disease CLINVAR
CUI: C0431414
Disease: Sacral dysgenesis
Sacral dysgenesis 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C0431414
Disease: Sacral dysgenesis
Sacral dysgenesis 		0.400 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly 		0.100 Biomarker phenotype HPO
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.100 Biomarker group HPO
CUI: C0025995
Disease: Micromelia
Micromelia 		0.100 Biomarker disease HPO
CUI: C0086439
Disease: Hypokinesia
Hypokinesia 		0.100 Biomarker phenotype HPO
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.100 Biomarker disease HPO
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		0.100 Biomarker disease HPO
CUI: C0231835
Disease: Tachypnea
Tachypnea 		0.100 Biomarker phenotype HPO
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		0.100 Biomarker phenotype HPO
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker disease HPO
CUI: C0239479
Disease: Round face
Round face 		0.100 Biomarker phenotype HPO
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		0.100 Biomarker phenotype HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0426421
Disease: Wide nose
Wide nose 		0.100 Biomarker phenotype HPO
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		0.100 Biomarker phenotype HPO
CUI: C0426817
Disease: Short ribs
Short ribs 		0.100 Biomarker phenotype HPO
CUI: C0456132
Disease: Large fontanelle
Large fontanelle 		0.100 Biomarker phenotype HPO
CUI: C0521525
Disease: Short neck
Short neck 		0.100 Biomarker phenotype HPO