ADSS1, adenylosuccinate synthase 1, 122622

N. diseases: 49; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0239043
Disease: Difficulty chewing
Difficulty chewing 		0.100 Biomarker phenotype HPO
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		0.100 Biomarker phenotype HPO
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.100 CausalMutation disease CLINVAR
CUI: C0427055
Disease: Facial Paresis
Facial Paresis 		0.100 Biomarker phenotype HPO
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		0.100 CausalMutation phenotype CLINVAR
CUI: C0427149
Disease: Gait, Drop Foot
Gait, Drop Foot 		0.100 Biomarker phenotype HPO
CUI: C0560346
Disease: Difficulty running
Difficulty running 		0.100 Biomarker phenotype HPO
CUI: C0850703
Disease: Frequent falls
Frequent falls 		0.100 Biomarker phenotype HPO
CUI: C1834696
Disease: Hyporeflexia of lower limbs
Hyporeflexia of lower limbs 		0.100 Biomarker phenotype HPO
CUI: C1836057
Disease: Muscle fiber splitting
Muscle fiber splitting 		0.100 Biomarker phenotype HPO
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
CUI: C1837323
Disease: Decreased Achilles reflex
Decreased Achilles reflex 		0.100 Biomarker phenotype HPO
CUI: C1838579
Disease: Pseudobulbar signs
Pseudobulbar signs 		0.100 Biomarker phenotype HPO
CUI: C1843570
Disease: Tip-toe gait
Tip-toe gait 		0.100 Biomarker phenotype HPO
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		0.100 Biomarker disease HPO
CUI: C1853932
Disease: Rimmed vacuoles on biopsy
Rimmed vacuoles on biopsy 		0.100 Biomarker phenotype HPO
CUI: C1854494
Disease: Slow progression
Slow progression 		0.100 Biomarker phenotype HPO
CUI: C1858719
Disease: Facial muscle weakness of muscles innervated by CN VII
Facial muscle weakness of muscles innervated by CN VII 		0.100 CausalMutation phenotype CLINVAR
CUI: C1866141
Disease: Foot dorsiflexor weakness
Foot dorsiflexor weakness 		0.100 Biomarker phenotype HPO
CUI: C2230441
Disease: Triceps weakness
Triceps weakness 		0.100 Biomarker phenotype HPO
CUI: C3150620
Disease: Distal upper limb muscle weakness
Distal upper limb muscle weakness 		0.100 Biomarker phenotype HPO
CUI: C4021523
Disease: Upper limb amyotrophy
Upper limb amyotrophy 		0.100 Biomarker disease HPO
CUI: C4024603
Disease: Atrophy of quadriceps femoris muscle
Atrophy of quadriceps femoris muscle 		0.100 Biomarker phenotype HPO
CUI: C4692845
Disease: BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO
BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO 		0.100 CausalMutation phenotype CLINVAR