Source: CLINVAR ×
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0234860
Disease: Weak cry
Weak cry 		5 0 4 0.20 0 0
CUI: C0332615
Disease: Myopathic facies
Myopathic facies 		11 15 5 0.20 5 0.15
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		20 24 6 0.18 6 0.14
CUI: C0231712
Disease: Waddling gait
Waddling gait 		8 8 4 0.17 2 6.7E-02
CUI: C1698196
Disease: Muscle Weakness Upper Limb
Muscle Weakness Upper Limb 		3 3 3 0.16 1 3.8E-02
CUI: C4025690
Disease: Prenatal maternal abnormality
Prenatal maternal abnormality 		3 2 3 0.16 1 4.0E-02
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass 		11 12 4 0.15 2 5.9E-02
CUI: C0558845
Disease: Reflex, Ankle, Absent
Reflex, Ankle, Absent 		4 5 3 0.15 1 3.6E-02
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		12 15 4 0.15 2 5.4E-02
CUI: C4023681
Disease: Delayed fine motor development
Delayed fine motor development 		13 13 4 0.14 1 2.8E-02
CUI: C0023221
Disease: Leg Length Inequality
Leg Length Inequality 		6 6 3 0.14 3 0.11
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		15 15 4 0.13 2 5.4E-02
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		15 14 4 0.13 2 5.6E-02
CUI: C0014877
Disease: Esotropia
Esotropia 		33 38 6 0.13 4 6.9E-02
CUI: C0234182
Disease: Gowers sign
Gowers sign 		7 8 3 0.13 2 6.7E-02
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity 		7 6 3 0.13 1 3.4E-02
CUI: C3277226
Disease: Restrictive ventilatory defect
Restrictive ventilatory defect 		7 8 3 0.13 1 3.2E-02
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		7 0 3 0.13 0 0
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia 		16 18 4 0.13 2 5.0E-02
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		16 0 4 0.13 0 0
CUI: C0241237
Disease: Difficulty standing
Difficulty standing 		8 14 3 0.12 2 5.6E-02
CUI: C4022761
Disease: Reduced brain N-acetyl aspartate level by MRS
Reduced brain N-acetyl aspartate level by MRS 		8 8 3 0.12 1 3.2E-02
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		39 59 6 0.12 3 3.7E-02
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		11 0 3 0.11 0 0
CUI: C0234146
Disease: Absent reflex
Absent reflex 		11 16 3 0.11 2 5.3E-02