Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
BRACHYDACTYLY, TYPE A2 		0.760 CausalMutation disease CLINVAR
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
BRACHYDACTYLY, TYPE A2 		0.760 Biomarker disease HPO
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
BRACHYDACTYLY, TYPE A2 		0.760 Biomarker disease GENOMICS_ENGLAND
CUI: C1832702
Disease: BRACHYDACTYLY, TYPE A2
BRACHYDACTYLY, TYPE A2 		0.760 Biomarker disease CTD_human
CUI: C4225183
Disease: BRACHYDACTYLY, TYPE A1, D
BRACHYDACTYLY, TYPE A1, D 		0.700 Biomarker disease CTD_human
CUI: C4225183
Disease: BRACHYDACTYLY, TYPE A1, D
BRACHYDACTYLY, TYPE A1, D 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4225183
Disease: BRACHYDACTYLY, TYPE A1, D
BRACHYDACTYLY, TYPE A1, D 		0.700 CausalMutation disease CLINVAR
CUI: C4225404
Disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C4225404
Disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE 		0.600 CausalMutation disease CLINVAR
CUI: C4225404
Disease: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C1862103
Disease: Brachydactyly type C
Brachydactyly type C 		0.410 Biomarker disease HPO
CUI: C1856738
Disease: Fibular hypoplasia and complex brachydactyly
Fibular hypoplasia and complex brachydactyly 		0.400 CausalMutation disease CLINVAR
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.300 GeneticVariation disease UNIPROT
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma 		0.300 GeneticVariation disease UNIPROT
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.130 Biomarker disease HPO
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0018536
Disease: Hallux Valgus
Hallux Valgus 		0.100 Biomarker disease HPO
CUI: C0025995
Disease: Micromelia
Micromelia 		0.100 Biomarker disease HPO
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.100 Biomarker group HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		0.100 Biomarker phenotype HPO
CUI: C0231679
Disease: Ulnar deviation of the fingers
Ulnar deviation of the fingers 		0.100 Biomarker phenotype HPO
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		0.100 Biomarker disease HPO