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: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		123 0 1 2.6E-03 0 0
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		122 0 1 2.6E-03 0 0
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation 		121 0 1 2.6E-03 0 0
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		121 0 1 2.6E-03 0 0
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		121 0 1 2.6E-03 0 0
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly 		120 0 1 2.6E-03 0 0
CUI: C1860834
Disease: Infantile muscular hypotonia
Infantile muscular hypotonia 		118 0 1 2.6E-03 0 0
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		117 0 1 2.6E-03 0 0
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		117 0 1 2.6E-03 0 0
CUI: C0024421
Disease: Macroglossia
Macroglossia 		115 0 1 2.6E-03 0 0
CUI: C0231712
Disease: Waddling gait
Waddling gait 		113 0 1 2.6E-03 0 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		112 0 1 2.7E-03 0 0
CUI: C1837770
Disease: Sparse hair
Sparse hair 		112 0 1 2.7E-03 0 0
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		112 0 1 2.7E-03 0 0
CUI: C0431447
Disease: Synophrys
Synophrys 		111 0 1 2.7E-03 0 0
CUI: C1835884
Disease: Triangular face
Triangular face 		111 0 1 2.7E-03 0 0
CUI: C1609433
Disease: Congenital absence of kidneys syndrome
Congenital absence of kidneys syndrome 		110 0 1 2.7E-03 0 0
CUI: C0240340
Disease: Microdontia (disorder)
Microdontia (disorder) 		109 0 1 2.7E-03 0 0
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		105 0 1 2.7E-03 0 0
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		105 0 1 2.7E-03 0 0
CUI: C0424574
Disease: Duration of sleep
Duration of sleep 		104 0 1 2.7E-03 0 0
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		104 0 1 2.7E-03 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 0 1 2.7E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 1 2.7E-03 0 0
CUI: C1837142
Disease: Poor suck
Poor suck 		103 0 1 2.7E-03 0 0