Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.100 Biomarker phenotype HPO
CUI: C0015672
Disease: Fatigue
Fatigue 		0.100 Biomarker phenotype HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 Biomarker phenotype HPO
CUI: C0033785
Disease: Pseudarthrosis
Pseudarthrosis 		0.100 Biomarker phenotype HPO
CUI: C0042963
Disease: Vomiting
Vomiting 		0.100 Biomarker phenotype HPO
CUI: C0151798
Disease: Hepatic necrosis
Hepatic necrosis 		0.100 Biomarker phenotype HPO
CUI: C0155773
Disease: Portal Vein Thrombosis
Portal Vein Thrombosis 		0.100 Biomarker disease HPO
CUI: C0232493
Disease: Epigastric pain
Epigastric pain 		0.100 Biomarker phenotype HPO
CUI: C0235971
Disease: Elevated alpha-fetoprotein
Elevated alpha-fetoprotein 		0.100 Biomarker phenotype HPO
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.100 Biomarker disease HPO
CUI: C0267812
Disease: Micronodular cirrhosis
Micronodular cirrhosis 		0.100 Biomarker disease HPO
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		0.100 Biomarker phenotype HPO
CUI: C1861901
Disease: Subacute progressive viral hepatitis
Subacute progressive viral hepatitis 		0.100 Biomarker phenotype HPO
CUI: C1963135
Disease: Hepatic Necrosis, CTCAE 3.0
Hepatic Necrosis, CTCAE 3.0 		0.100 Biomarker phenotype HPO
CUI: C4552670
Disease: Portal Vein Thrombosis, CTCAE
Portal Vein Thrombosis, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C4554166
Disease: Hepatic Necrosis, CTCAE 5.0
Hepatic Necrosis, CTCAE 5.0 		0.100 Biomarker phenotype HPO
CUI: C1836723
Disease: Tibia, Bowing of, with Pseudarthrosis and Pectus Excavatum
Tibia, Bowing of, with Pseudarthrosis and Pectus Excavatum 		0.300 GermlineCausalMutation disease ORPHANET Familial congenital bowing of the tibia with pseudarthrosis and pectus excavatum: report of a kindred. 1270474 1976
CUI: C4085248
Disease: OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO
OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO 		0.300 GermlineCausalMutation phenotype ORPHANET Familial congenital bowing of the tibia with pseudarthrosis and pectus excavatum: report of a kindred. 1270474 1976
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.100 Biomarker disease BEFREE Based on the result from one family, MET appears to be more proximal to the centromere than CF. 3467587 1986
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.100 GeneticVariation disease BEFREE A collaborative study involving seven research groups provided an opportunity to investigate the linkage relationships between cystic fibrosis and two DNA marker loci, MET and pJ3.11 (D7S8), on an extended sample of 211 tested families. 3026171 1986
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.100 Biomarker disease BEFREE Among the 79 affected children, no recombinants were detected between the disease and the markers MET and pJ3.11, previously shown to be linked to CF. 3026172 1986
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.100 Biomarker disease BEFREE Analysis by the seriation method indicates the order COL-pJ3.11-CF-MET. 3026173 1986
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.100 GeneticVariation disease BEFREE Further linkage studies, now involving 22 families, have confirmed the tight linkage of cystic fibrosis to the MET and D7S8 loci. 2879438 1986
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.100 GeneticVariation disease BEFREE Three additional DNA polymorphisms in the met gene and D7S8 locus: use in prenatal diagnosis of cystic fibrosis. 2888841 1987