Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1847823
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F 		0.760 Biomarker disease CTD_human
CUI: C2608087
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB 		0.700 GeneticVariation disease CLINVAR
CUI: C2608087
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB 		0.700 Biomarker disease CTD_human
CUI: C2608087
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB 		0.700 CausalMutation disease CLINVAR
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.180 Biomarker group HPO
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.110 GeneticVariation phenotype CLINVAR
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 Biomarker disease HPO
CUI: C0015644
Disease: Muscular fasciculation
Muscular fasciculation 		0.100 Biomarker phenotype HPO
CUI: C0037763
Disease: Spasm
Spasm 		0.100 Biomarker phenotype HPO
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		0.100 Biomarker disease HPO
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		0.100 Biomarker phenotype HPO
CUI: C0221373
Disease: Claw hand
Claw hand 		0.100 Biomarker disease HPO
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 Biomarker phenotype HPO
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		0.100 Biomarker phenotype HPO
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		0.100 CausalMutation phenotype CLINVAR
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		0.100 Biomarker phenotype HPO
CUI: C0427149
Disease: Gait, Drop Foot
Gait, Drop Foot 		0.100 Biomarker phenotype HPO
CUI: C0522224
Disease: Paralysed
Paralysed 		0.100 Biomarker phenotype HPO
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		0.100 Biomarker disease HPO
CUI: C1834696
Disease: Hyporeflexia of lower limbs
Hyporeflexia of lower limbs 		0.100 Biomarker phenotype HPO
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		0.100 CausalMutation phenotype CLINVAR
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		0.100 Biomarker phenotype HPO
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		0.100 CausalMutation phenotype CLINVAR
CUI: C1836450
Disease: Distal lower limb muscle weakness
Distal lower limb muscle weakness 		0.100 Biomarker phenotype HPO
CUI: C1836451
Disease: Distal lower limb amyotrophy
Distal lower limb amyotrophy 		0.100 Biomarker disease HPO