Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020074
Disease: HSAN Type IV
HSAN Type IV 		0.800 Biomarker disease CTD_human
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.750 Biomarker disease CTD_human
CUI: C1833921
Disease: Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma 		0.750 CausalMutation disease CLINVAR
CUI: C0020075
Disease: Hereditary Sensory Autonomic Neuropathy, Type 5
Hereditary Sensory Autonomic Neuropathy, Type 5 		0.520 Biomarker disease CTD_human
CUI: C0699739
Disease: Sensory Neuropathy, Hereditary
Sensory Neuropathy, Hereditary 		0.510 Biomarker disease MGD
CUI: C0699739
Disease: Sensory Neuropathy, Hereditary
Sensory Neuropathy, Hereditary 		0.510 Biomarker disease CTD_human
CUI: C0027889
Disease: Hereditary Sensory and Autonomic Neuropathies
Hereditary Sensory and Autonomic Neuropathies 		0.310 Biomarker group CTD_human
CUI: C0020071
Disease: Hereditary Sensory Autonomic Neuropathy, Type 1
Hereditary Sensory Autonomic Neuropathy, Type 1 		0.300 Biomarker disease CTD_human
CUI: C0020072
Disease: Hereditary Sensory Autonomic Neuropathy, Type 2
Hereditary Sensory Autonomic Neuropathy, Type 2 		0.300 Biomarker disease CTD_human
CUI: C0086405
Disease: Hereditary Sensory Radicular Neuropathy
Hereditary Sensory Radicular Neuropathy 		0.300 Biomarker disease CTD_human
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.300 CausalMutation disease CGI
CUI: C1335177
Disease: Ovarian Serous Adenocarcinoma
Ovarian Serous Adenocarcinoma 		0.300 GeneticVariation disease UNIPROT
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		0.200 Biomarker disease HPO
CUI: C0003028
Disease: Anhidrosis
Anhidrosis 		0.140 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.130 Biomarker group HPO
CUI: C0003892
Disease: Neurogenic arthropathy
Neurogenic arthropathy 		0.110 Biomarker disease HPO
CUI: C0035021
Disease: Relapsing Fever
Relapsing Fever 		0.110 Biomarker disease HPO
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.110 Biomarker phenotype HPO
CUI: C3714772
Disease: Recurrent fevers
Recurrent fevers 		0.110 Biomarker phenotype HPO
CUI: C0010043
Disease: Corneal Ulcer
Corneal Ulcer 		0.100 Biomarker disease HPO
CUI: C0022107
Disease: Irritable Mood
Irritable Mood 		0.100 Biomarker phenotype HPO
CUI: C0022568
Disease: Keratitis
Keratitis 		0.100 Biomarker disease HPO
CUI: C0023653
Disease: Lichenification
Lichenification 		0.100 Biomarker phenotype HPO
CUI: C0023654
Disease: Lichenification and lichen simplex chronicus
Lichenification and lichen simplex chronicus 		0.100 Biomarker phenotype HPO
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.100 Biomarker disease HPO