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: C4721769
Disease: Citrullinemia Type 1
Citrullinemia Type 1 		5 0 1 0.20 0 0
CUI: C0175683
Disease: Citrullinemia
Citrullinemia 		7 0 1 0.14 0 0
CUI: C0428465
Disease: Serum lipids high (finding)
Serum lipids high (finding) 		7 7 1 0.14 1 7.1E-02
CUI: C4021535
Disease: Infantile sensorineural hearing impairment
Infantile sensorineural hearing impairment 		7 4 1 0.14 2 0.20
CUI: C3806604
Disease: Infantile axial hypotonia
Infantile axial hypotonia 		17 8 1 5.9E-02 2 0.14
CUI: C0033806
Disease: Pseudohypoparathyroidism
Pseudohypoparathyroidism 		34 0 1 2.9E-02 0 0
CUI: C1849020
Disease: Short metatarsal
Short metatarsal 		34 0 1 2.9E-02 0 0
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 1 2.4E-02 2 3.2E-02
CUI: C1860816
Disease: Preauricular skin tag
Preauricular skin tag 		53 4 1 1.9E-02 2 0.20
CUI: C1861869
Disease: Underdeveloped supraorbital ridges
Underdeveloped supraorbital ridges 		53 0 1 1.9E-02 0 0
CUI: C0005910
Disease: Body Weight
Body Weight 		57 0 1 1.8E-02 0 0
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		64 11 1 1.6E-02 1 5.6E-02
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		66 7 1 1.5E-02 1 7.1E-02
CUI: C0241726
Disease: Delayed ability to walk
Delayed ability to walk 		77 0 1 1.3E-02 0 0
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		91 9 1 1.1E-02 1 6.2E-02
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		91 0 1 1.1E-02 0 0
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis 		92 8 1 1.1E-02 1 6.7E-02
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney 		96 8 1 1.0E-02 1 6.7E-02
CUI: C0578038
Disease: Thin lips
Thin lips 		99 0 1 1.0E-02 0 0
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		112 0 1 8.9E-03 0 0
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		124 0 1 8.1E-03 0 0
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		125 0 1 8.0E-03 0 0
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		140 16 1 7.1E-03 1 4.3E-02
CUI: C0004106
Disease: Astigmatism
Astigmatism 		148 0 1 6.8E-03 0 0
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance 		162 53 1 6.2E-03 1 1.7E-02