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: C1301149
Disease: Mast cell abnormality
Mast cell abnormality
1 0 1 1.00 0 0
CUI: C4023526
Disease: Abnormality of epidermal morphology
Abnormality of epidermal morphology
1 0 1 1.00 0 0
CUI: C2936827
Disease: Focal facial dermal dysplasia
Focal facial dermal dysplasia
2 0 1 0.50 0 0
CUI: C4073228
Disease: Abnormality of buccal mucosa
Abnormality of buccal mucosa
2 0 1 0.50 0 0
Fragmented elastic fibers in the dermis
4 0 1 0.25 0 0
CUI: C3897045
Disease: Short Stature Homeobox Deficiency
Short Stature Homeobox Deficiency
8 0 1 0.12 0 0
CUI: C0008767
Disease: Cicatrization
Cicatrization
13 0 1 7.7E-02 0 0
CUI: C3697248
Disease: Short lower third of face
Short lower third of face
33 0 1 3.0E-02 0 0
CUI: C0151699
Disease: Intracranial Hemorrhage
Intracranial Hemorrhage
40 0 1 2.5E-02 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin
75 0 1 1.3E-02 0 0
CUI: C0018989
Disease: Hemiparesis
Hemiparesis
91 0 1 1.1E-02 0 0
CUI: C0027960
Disease: Nevus
Nevus
125 0 1 8.0E-03 0 0
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
210 0 1 4.8E-03 0 0
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
255 0 1 3.9E-03 0 0
CUI: C0018916
Disease: Hemangioma
Hemangioma
256 0 1 3.9E-03 0 0
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities
355 0 1 2.8E-03 0 0
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
393 0 1 2.5E-03 0 0
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
473 0 1 2.1E-03 0 0
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
610 0 1 1.6E-03 0 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
611 0 1 1.6E-03 0 0
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
710 0 1 1.4E-03 0 0
CUI: C0025958
Disease: Microcephaly
Microcephaly
1064 0 1 9.4E-04 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism
1261 0 1 7.9E-04 0 0
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
2872 0 1 3.5E-04 0 0