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: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		85 0 1 2.2E-03 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 1 2.2E-03 0 0
CUI: C0241726
Disease: Delayed ability to walk
Delayed ability to walk 		77 0 1 2.3E-03 0 0
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		75 0 1 2.3E-03 0 0
CUI: C3554617
Disease: Adducted thumb
Adducted thumb 		74 0 1 2.3E-03 0 0
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		73 0 1 2.3E-03 0 0
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		71 0 1 2.3E-03 0 0
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		71 0 1 2.3E-03 0 0
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		71 0 1 2.3E-03 0 0
CUI: C0455829
Disease: Waist Circumference
Waist Circumference 		70 0 1 2.3E-03 0 0
CUI: C0542514
Disease: Blue sclera
Blue sclera 		70 0 1 2.3E-03 0 0
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		67 0 1 2.3E-03 0 0
CUI: C0016506
Disease: Foot Deformities
Foot Deformities 		66 0 1 2.3E-03 0 0
CUI: C0025037
Disease: Meckel Diverticulum
Meckel Diverticulum 		63 0 1 2.3E-03 0 0
CUI: C0156394
Disease: Hypertrophy of clitoris
Hypertrophy of clitoris 		63 0 1 2.3E-03 0 0
CUI: C0004144
Disease: Atelectasis
Atelectasis 		62 0 1 2.3E-03 0 0
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		62 0 1 2.3E-03 0 0
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		62 0 1 2.3E-03 0 0
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly 		62 0 1 2.3E-03 0 0
CUI: C3277226
Disease: Restrictive ventilatory defect
Restrictive ventilatory defect 		61 0 1 2.3E-03 0 0
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
Malignant hyperpyrexia due to anesthesia 		60 0 1 2.3E-03 0 0
CUI: C0262404
Disease: Cerebellar degeneration
Cerebellar degeneration 		60 0 1 2.3E-03 0 0
CUI: C0426817
Disease: Short ribs
Short ribs 		60 0 1 2.3E-03 0 0
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		59 0 1 2.4E-03 0 0
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		59 0 1 2.4E-03 0 0