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: C1855923
Disease: Hyperphosphatasia with Mental Retardation
Hyperphosphatasia with Mental Retardation 		7 0 7 0.24 0 0
CUI: C4021834
Disease: Abnormal parietal bone morphology
Abnormal parietal bone morphology 		9 0 7 0.23 0 0
CUI: C0424688
Disease: Small head
Small head 		11 0 7 0.21 0 0
CUI: C4083076
Disease: Increased head circumference
Increased head circumference 		11 0 7 0.21 0 0
CUI: C0423276
Disease: Shallow anterior chamber of eye
Shallow anterior chamber of eye 		13 0 7 0.20 0 0
CUI: C1858995
Disease: Decreased circulating progesterone
Decreased circulating progesterone 		5 0 5 0.17 0 0
CUI: C4025319
Disease: Cessation of head growth
Cessation of head growth 		6 0 5 0.17 0 0
CUI: C1847967
Disease: OVARIOLEUKODYSTROPHY
OVARIOLEUKODYSTROPHY 		7 0 5 0.16 0 0
CUI: C1854111
Disease: Broad philtrum
Broad philtrum 		22 0 7 0.16 0 0
CUI: C1384670
Disease: Single umbilical artery
Single umbilical artery 		28 0 7 0.14 0 0
CUI: C1859014
Disease: Primary gonadal insufficiency
Primary gonadal insufficiency 		21 0 6 0.14 0 0
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		38 19 8 0.14 2 8.7E-02
CUI: C4021757
Disease: EEG with polyspike wave complexes
EEG with polyspike wave complexes 		30 0 7 0.13 0 0
CUI: C2960129
Disease: Vanishing white matter disease
Vanishing white matter disease 		14 0 5 0.13 0 0
CUI: C0348489
Disease: Other sphingolipidosis
Other sphingolipidosis 		7 0 4 0.12 0 0
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus 		34 0 7 0.12 0 0
CUI: C1837732
Disease: Thickened helices
Thickened helices 		37 0 7 0.12 0 0
CUI: C0266011
Disease: Accessory nipple
Accessory nipple 		38 0 7 0.12 0 0
CUI: C4021608
Disease: Shortening of all distal phalanges of the fingers
Shortening of all distal phalanges of the fingers 		40 0 7 0.11 0 0
CUI: C0039446
Disease: Telangiectasis
Telangiectasis 		43 0 7 0.11 0 0
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding) 		45 0 7 0.10 0 0
CUI: C0151849
Disease: Alkaline phosphatase raised
Alkaline phosphatase raised 		55 0 7 9.1E-02 0 0
CUI: C0263523
Disease: Micronychia (disorder)
Micronychia (disorder) 		60 0 7 8.5E-02 0 0
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly 		74 0 8 8.4E-02 0 0
CUI: C4274084
Disease: Pelizaeus Merzbacher like disease
Pelizaeus Merzbacher like disease 		10 0 3 8.3E-02 0 0