Source: ALL
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: C3807591
Disease: Widening of cervical spinal canal
Widening of cervical spinal canal 		1 0 1 1.00 0 0
CUI: C1854664
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 1
LETHAL CONGENITAL CONTRACTURE SYNDROME 1 		2 2 1 0.50 2 0.29
CUI: C2673351
Disease: Paucity of anterior horn motor neurons
Paucity of anterior horn motor neurons 		2 0 1 0.50 0 0
CUI: C0240414
Disease: Hypoplasia of muscle
Hypoplasia of muscle 		6 0 1 0.17 0 0
CUI: C1527388
Disease: Amniotic Bands
Amniotic Bands 		6 0 1 0.17 0 0
CUI: C0154681
Disease: Anterior Horn Cell Disease
Anterior Horn Cell Disease 		8 0 1 0.12 0 0
CUI: C0266781
Disease: Abnormal amniotic fluid
Abnormal amniotic fluid 		8 0 1 0.12 0 0
CUI: C4021386
Disease: Abnormality of the elbow
Abnormality of the elbow 		12 0 1 8.3E-02 0 0
CUI: C1856694
Disease: Areflexia of lower limbs
Areflexia of lower limbs 		24 0 1 4.2E-02 0 0
CUI: C0239815
Disease: Hand clenching
Hand clenching 		26 0 1 3.8E-02 0 0
CUI: C0410916
Disease: Neonatal Death
Neonatal Death 		27 0 1 3.7E-02 0 0
CUI: C2673700
Disease: Brisk reflexes
Brisk reflexes 		31 0 1 3.2E-02 0 0
CUI: C1833144
Disease: Slender long bone
Slender long bone 		35 0 1 2.9E-02 0 0
CUI: C0009918
Disease: Contracture of joint
Contracture of joint 		36 0 1 2.8E-02 0 0
CUI: C4022588
Disease: Fatigable weakness of swallowing muscles
Fatigable weakness of swallowing muscles 		39 0 1 2.6E-02 0 0
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		40 0 1 2.5E-02 0 0
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		40 0 1 2.5E-02 0 0
CUI: C4021797
Disease: Abnormality of the thorax
Abnormality of the thorax 		40 0 1 2.5E-02 0 0
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology 		41 0 1 2.4E-02 0 0
CUI: C1836003
Disease: Facial diplegia
Facial diplegia 		42 0 1 2.4E-02 0 0
CUI: C0332615
Disease: Myopathic facies
Myopathic facies 		44 0 1 2.3E-02 0 0
CUI: C0026884
Disease: Mutism
Mutism 		47 0 1 2.1E-02 0 0
CUI: C0023066
Disease: Laryngospasm
Laryngospasm 		48 0 1 2.1E-02 0 0
CUI: C0043352
Disease: Xerostomia
Xerostomia 		56 0 1 1.8E-02 0 0
CUI: C4022587
Disease: Fatigable weakness of respiratory muscles
Fatigable weakness of respiratory muscles 		60 0 1 1.7E-02 0 0