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: C0410935
Disease: Wide cranial sutures
Wide cranial sutures 		10 0 2 9.1E-02 0 0
CUI: C1843496
Disease: Bilateral microphthalmos
Bilateral microphthalmos 		35 11 4 8.9E-02 2 0.15
CUI: C1859455
Disease: Small anterior fontanelle
Small anterior fontanelle 		11 0 2 8.7E-02 0 0
CUI: C0240997
Disease: Decreased serum ceruloplasmin
Decreased serum ceruloplasmin 		12 5 2 8.3E-02 1 0.12
CUI: C1832386
Disease: Diabetes Mellitus, Transient Neonatal, 1
Diabetes Mellitus, Transient Neonatal, 1 		12 0 2 8.3E-02 0 0
CUI: C1848977
Disease: Short upper lip
Short upper lip 		12 0 2 8.3E-02 0 0
CUI: C1859523
Disease: Contractures of the joints of the lower limbs
Contractures of the joints of the lower limbs 		12 0 2 8.3E-02 0 0
CUI: C1857949
Disease: Prominent metopic ridge
Prominent metopic ridge 		39 0 4 8.2E-02 0 0
CUI: C0017572
Disease: Gingival Recession
Gingival Recession 		14 0 2 7.7E-02 0 0
CUI: C1859077
Disease: Aplasia/Hypoplasia of the nails
Aplasia/Hypoplasia of the nails 		14 0 2 7.7E-02 0 0
CUI: C4023722
Disease: Abnormality of hair texture
Abnormality of hair texture 		15 1 2 7.4E-02 1 0.25
CUI: C4023786
Disease: Elevated levels of phytanic acid
Elevated levels of phytanic acid 		15 0 2 7.4E-02 0 0
CUI: C1849172
Disease: Frontal lobe hypoplasia
Frontal lobe hypoplasia 		30 0 3 7.3E-02 0 0
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		1 0 1 7.1E-02 0 0
CUI: C0342278
Disease: Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 		1 0 1 7.1E-02 0 0
CUI: C0796028
Disease: ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION 		1 0 1 7.1E-02 0 0
CUI: C0840564
Disease: Rupture of bladder
Rupture of bladder 		1 0 1 7.1E-02 0 0
CUI: C1303076
Disease: Tortuous carotid artery
Tortuous carotid artery 		1 0 1 7.1E-02 0 0
CUI: C1839566
Disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 		1 0 1 7.1E-02 0 0
CUI: C1840319
Disease: Redundant neck skin
Redundant neck skin 		16 0 2 7.1E-02 0 0
CUI: C1842137
Disease: Nonsyndromic sensorineural hearing loss
Nonsyndromic sensorineural hearing loss 		1 0 1 7.1E-02 0 0
CUI: C1851430
Disease: Subcortical white matter calcifications
Subcortical white matter calcifications 		1 0 1 7.1E-02 0 0
CUI: C1851431
Disease: Cerebellar calcifications
Cerebellar calcifications 		1 0 1 7.1E-02 0 0
CUI: C1859135
Disease: Calcific stippling of infantile cartilaginous skeleton
Calcific stippling of infantile cartilaginous skeleton 		1 0 1 7.1E-02 0 0
CUI: C1859224
Disease: Second metatarsal posteriorly placed
Second metatarsal posteriorly placed 		1 0 1 7.1E-02 0 0