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: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		305 0 32 9.5E-02 0 0
CUI: C1860243
Disease: Abnormal sternal ossification
Abnormal sternal ossification 		6 0 6 9.2E-02 0 0
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		30 0 8 9.2E-02 0 0
CUI: C1860244
Disease: Malrotation of small bowel
Malrotation of small bowel 		7 0 6 9.1E-02 0 0
CUI: C0576226
Disease: Short foot
Short foot 		116 0 15 9.0E-02 0 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		129 21 16 9.0E-02 2 6.5E-02
CUI: C0796117
Disease: Pitt-Rogers-Danks Syndrome
Pitt-Rogers-Danks Syndrome 		8 0 6 9.0E-02 0 0
CUI: C1839858
Disease: Periventricular cysts
Periventricular cysts 		9 0 6 8.8E-02 0 0
CUI: C1860253
Disease: Pseudoepiphyses of the metacarpals
Pseudoepiphyses of the metacarpals 		9 0 6 8.8E-02 0 0
CUI: C1844825
Disease: Hyperconvex fingernails
Hyperconvex fingernails 		12 0 6 8.5E-02 0 0
CUI: C1848977
Disease: Short upper lip
Short upper lip 		12 0 6 8.5E-02 0 0
CUI: C1968999
Disease: Rib segmentation abnormalities
Rib segmentation abnormalities 		12 0 6 8.5E-02 0 0
CUI: C0395837
Disease: Stenosis of external auditory canal
Stenosis of external auditory canal 		25 0 7 8.4E-02 0 0
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		90 0 12 8.4E-02 0 0
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin 		91 0 12 8.3E-02 0 0
CUI: C3495489
Disease: Rieger eye malformation sequence
Rieger eye malformation sequence 		13 0 6 8.3E-02 0 0
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		106 0 13 8.2E-02 0 0
CUI: C1860247
Disease: Prominent glabella
Prominent glabella 		14 0 6 8.2E-02 0 0
CUI: C1843108
Disease: Short palm
Short palm 		110 0 13 8.0E-02 0 0
CUI: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy 		97 0 12 8.0E-02 0 0
CUI: C4025320
Disease: Craniofacial asymmetry
Craniofacial asymmetry 		16 0 6 8.0E-02 0 0
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation 		30 0 7 8.0E-02 0 0
CUI: C1840380
Disease: Persistent cavum septum pellucidum
Persistent cavum septum pellucidum 		17 0 6 7.9E-02 0 0
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		129 0 14 7.8E-02 0 0
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity 		117 0 13 7.7E-02 0 0