Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3279800
Disease: KEPPEN-LUBINSKY SYNDROME
KEPPEN-LUBINSKY SYNDROME 		0.720 Biomarker disease CTD_human
CUI: C3279800
Disease: KEPPEN-LUBINSKY SYNDROME
KEPPEN-LUBINSKY SYNDROME 		0.720 CausalMutation disease CLINVAR
CUI: C3279800
Disease: KEPPEN-LUBINSKY SYNDROME
KEPPEN-LUBINSKY SYNDROME 		0.720 GeneticVariation disease CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.110 Biomarker phenotype HPO
CUI: C0013404
Disease: Dyspnea
Dyspnea 		0.100 Biomarker phenotype HPO
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		0.100 Biomarker phenotype HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		0.100 Biomarker phenotype HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.100 Biomarker disease HPO
CUI: C0037301
Disease: Skin Wrinkling
Skin Wrinkling 		0.100 Biomarker phenotype HPO
CUI: C0151818
Disease: Opisthotonus
Opisthotonus 		0.100 Biomarker phenotype HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		0.100 Biomarker disease HPO
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		0.100 Biomarker phenotype HPO
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 Biomarker disease HPO
CUI: C0241267
Disease: Absence of subcutaneous fat
Absence of subcutaneous fat 		0.100 Biomarker phenotype HPO
CUI: C0241355
Disease: Small testicle
Small testicle 		0.100 Biomarker phenotype HPO
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		0.100 Biomarker disease HPO
CUI: C0376480
Disease: Gingival Overgrowth
Gingival Overgrowth 		0.100 Biomarker phenotype HPO
CUI: C0424448
Disease: Mask-like facies
Mask-like facies 		0.100 Biomarker phenotype HPO
CUI: C0426439
Disease: Narrow nostrils
Narrow nostrils 		0.100 Biomarker phenotype HPO