rs1556425596, COL6A1

N. diseases: 37
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 CausalMutation CLINVAR
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
0.700 CausalMutation CLINVAR
Muscle fiber hypertrophy
CUI: C0333759
Disease: Muscle fiber hypertrophy
0.700 CausalMutation CLINVAR
Toe-walking gait
CUI: C0427144
Disease: Toe-walking gait
0.700 CausalMutation CLINVAR
Hyperextensibility of the finger joints
CUI: C1844577
Disease: Hyperextensibility of the finger joints
0.700 CausalMutation CLINVAR
Flexion contracture - wrist
CUI: C0409345
Disease: Flexion contracture - wrist
0.700 CausalMutation CLINVAR
Hyperpigmented nevi and streak
CUI: C3805692
Disease: Hyperpigmented nevi and streak
0.700 CausalMutation CLINVAR
Poor eye contact
CUI: C1445953
Disease: Poor eye contact
0.700 CausalMutation CLINVAR
Abnormality of muscle fibers
CUI: C4021663
Disease: Abnormality of muscle fibers
0.700 CausalMutation CLINVAR
Flexion contracture
CUI: C0333068
Disease: Flexion contracture
0.700 CausalMutation CLINVAR
Serum creatinine low
CUI: C0428282
Disease: Serum creatinine low
0.700 CausalMutation CLINVAR
Dry skin
CUI: C0151908
Disease: Dry skin
0.700 CausalMutation CLINVAR