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: C2678471
Disease: Lethal Arthrogryposis With Anterior Horn Cell Disease
Lethal Arthrogryposis With Anterior Horn Cell Disease 		1 0 1 0.50 0 0
CUI: C3807591
Disease: Widening of cervical spinal canal
Widening of cervical spinal canal 		1 0 1 0.50 0 0
CUI: C0795832
Disease: Chromosome 9, tetrasomy 9p
Chromosome 9, tetrasomy 9p 		2 0 1 0.33 0 0
CUI: C1854664
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 1
LETHAL CONGENITAL CONTRACTURE SYNDROME 1 		2 0 1 0.33 0 0
CUI: C0553576
Disease: Systemic mycosis
Systemic mycosis 		4 0 1 0.20 0 0
CUI: C3553449
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B 		5 11 1 0.17 1 9.1E-02
CUI: C0240414
Disease: Hypoplasia of muscle
Hypoplasia of muscle 		6 0 1 0.14 0 0
CUI: C1527388
Disease: Amniotic Bands
Amniotic Bands 		6 0 1 0.14 0 0
CUI: C0154681
Disease: Anterior Horn Cell Disease
Anterior Horn Cell Disease 		8 0 1 0.11 0 0
CUI: C0266781
Disease: Abnormal amniotic fluid
Abnormal amniotic fluid 		8 0 1 0.11 0 0
CUI: C1299567
Disease: Neonatal stroke
Neonatal stroke 		8 0 1 0.11 0 0
CUI: C1855843
Disease: Severe intrauterine growth retardation
Severe intrauterine growth retardation 		9 3 1 1.0E-01 1 0.33
CUI: C0241423
Disease: Atrophy of tongue
Atrophy of tongue 		10 0 1 9.1E-02 0 0
CUI: C1843504
Disease: Pontocerebellar Hypoplasia Type 1
Pontocerebellar Hypoplasia Type 1 		10 15 1 9.1E-02 1 6.7E-02
CUI: C3151520
Disease: Early severe fetal akinesia sequence
Early severe fetal akinesia sequence 		12 15 1 7.7E-02 1 6.7E-02
CUI: C4021386
Disease: Abnormality of the elbow
Abnormality of the elbow 		12 0 1 7.7E-02 0 0
CUI: C1847762
Disease: Cerebellar cyst
Cerebellar cyst 		14 0 1 6.7E-02 0 0
CUI: C0393556
Disease: Complicated hereditary spastic paraplegia
Complicated hereditary spastic paraplegia 		16 0 1 5.9E-02 0 0
CUI: C0239548
Disease: Fasciculation, Tongue
Fasciculation, Tongue 		21 0 1 4.5E-02 0 0
CUI: C1856694
Disease: Areflexia of lower limbs
Areflexia of lower limbs 		24 0 1 4.0E-02 0 0
CUI: C0239815
Disease: Hand clenching
Hand clenching 		26 0 1 3.7E-02 0 0
CUI: C0410916
Disease: Neonatal Death
Neonatal Death 		27 0 1 3.6E-02 0 0
CUI: C1261175
Disease: Pontoneocerebellar hypoplasia
Pontoneocerebellar hypoplasia 		27 10 1 3.6E-02 1 1.0E-01
CUI: C1848529
Disease: Hypoplasia of the pons
Hypoplasia of the pons 		30 3 1 3.2E-02 1 0.33
CUI: C2673700
Disease: Brisk reflexes
Brisk reflexes 		31 0 1 3.1E-02 0 0