Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1969057
Disease: Noonan Syndrome 5
Noonan Syndrome 5 		0.910 GeneticVariation disease CLINVAR
CUI: C1969057
Disease: Noonan Syndrome 5
Noonan Syndrome 5 		0.910 CausalMutation disease CLINVAR
CUI: C1969057
Disease: Noonan Syndrome 5
Noonan Syndrome 5 		0.910 Biomarker disease CTD_human
CUI: C1969056
Disease: LEOPARD SYNDROME 2
LEOPARD SYNDROME 2 		0.700 CausalMutation disease CLINVAR
CUI: C1969056
Disease: LEOPARD SYNDROME 2
LEOPARD SYNDROME 2 		0.700 GeneticVariation disease CLINVAR
CUI: C1969056
Disease: LEOPARD SYNDROME 2
LEOPARD SYNDROME 2 		0.700 Biomarker disease CTD_human
CUI: C4014656
Disease: CARDIOMYOPATHY, DILATED, 1NN
CARDIOMYOPATHY, DILATED, 1NN 		0.600 Biomarker disease CTD_human
CUI: C4014656
Disease: CARDIOMYOPATHY, DILATED, 1NN
CARDIOMYOPATHY, DILATED, 1NN 		0.600 CausalMutation disease CLINVAR
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 Biomarker disease HPO
CUI: C0025202
Disease: melanoma
melanoma 		0.500 CausalMutation disease CGI
CUI: C0025202
Disease: melanoma
melanoma 		0.500 Biomarker disease HPO
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.440 CausalMutation disease CGI
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.430 GeneticVariation disease UNIPROT
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.410 CausalMutation group CLINVAR
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.410 Biomarker group HPO
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.400 CausalMutation disease CLINVAR
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.310 Biomarker group GENOMICS_ENGLAND
CUI: C1335177
Disease: Ovarian Serous Adenocarcinoma
Ovarian Serous Adenocarcinoma 		0.300 GeneticVariation disease UNIPROT
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		0.300 Biomarker disease CLINGEN
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		0.300 Biomarker disease CLINGEN
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.120 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.120 Biomarker disease HPO
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		0.120 Biomarker disease HPO
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		0.120 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.110 Biomarker disease HPO