Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030196
Disease: Pain in limb
Pain in limb
0.100 GeneticVariation phenotype CLINVAR
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.100 CausalMutation disease CLINVAR
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.100 GeneticVariation disease CLINVAR
CUI: C0037763
Disease: Spasm
Spasm
0.100 GeneticVariation phenotype CLINVAR
CUI: C0037763
Disease: Spasm
Spasm
0.100 CausalMutation phenotype CLINVAR
CUI: C0039273
Disease: Talipes cavus
Talipes cavus
0.100 Biomarker disease HPO
CUI: C0040264
Disease: Tinnitus
Tinnitus
0.100 CausalMutation phenotype CLINVAR
CUI: C0040264
Disease: Tinnitus
Tinnitus
0.100 GeneticVariation phenotype CLINVAR
CUI: C0042963
Disease: Vomiting
Vomiting
0.100 Biomarker phenotype HPO
CUI: C0085636
Disease: Photophobia
Photophobia
0.100 GeneticVariation phenotype CLINVAR
CUI: C0085636
Disease: Photophobia
Photophobia
0.100 CausalMutation phenotype CLINVAR
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy
0.100 GeneticVariation disease CLINVAR
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy
0.100 CausalMutation disease CLINVAR
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
0.100 GeneticVariation phenotype CLINVAR
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
0.100 CausalMutation phenotype CLINVAR
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
0.100 Biomarker phenotype HPO
CUI: C0155119
Disease: Recurrent erosion of cornea
Recurrent erosion of cornea
0.100 Biomarker disease HPO
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute
0.100 Biomarker disease HPO
CUI: C0234146
Disease: Absent reflex
Absent reflex
0.100 Biomarker phenotype HPO
CUI: C0234146
Disease: Absent reflex
Absent reflex
0.100 CausalMutation phenotype CLINVAR
CUI: C0234146
Disease: Absent reflex
Absent reflex
0.100 GeneticVariation phenotype CLINVAR
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness
0.100 GeneticVariation phenotype CLINVAR
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness
0.100 CausalMutation phenotype CLINVAR
CUI: C0241237
Disease: Difficulty standing
Difficulty standing
0.100 CausalMutation phenotype CLINVAR
CUI: C0241237
Disease: Difficulty standing
Difficulty standing
0.100 GeneticVariation phenotype CLINVAR