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: C4021262
Disease: Absent palmar crease
Absent palmar crease 		9 0 3 0.14 0 0
CUI: C4021959
Disease: Round ear
Round ear 		10 0 3 0.13 0 0
CUI: C0220723
Disease: CHOANAL ATRESIA, POSTERIOR
CHOANAL ATRESIA, POSTERIOR 		2 0 2 0.12 0 0
CUI: C1844862
Disease: Abruzzo Erickson syndrome
Abruzzo Erickson syndrome 		2 0 2 0.12 0 0
CUI: C4025870
Disease: Abnormality of the mandible
Abnormality of the mandible 		2 1 2 0.12 1 0.50
CUI: C3552156
Disease: Hypoplasia of the semicircular canal
Hypoplasia of the semicircular canal 		3 0 2 0.12 0 0
CUI: C4021984
Disease: Abnormal soft palate morphology
Abnormal soft palate morphology 		3 0 2 0.12 0 0
CUI: C1389851
Disease: Parathyroid hypoplasia
Parathyroid hypoplasia 		4 0 2 0.11 0 0
CUI: C2936502
Disease: Familial CHARGE Syndrome
Familial CHARGE Syndrome 		4 0 2 0.11 0 0
CUI: C4023824
Disease: Bifid femur
Bifid femur 		4 0 2 0.11 0 0
CUI: C1834523
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B
ARTHROGRYPOSIS, DISTAL, TYPE 2B 		25 0 4 0.11 0 0
CUI: C0266614
Disease: Bat ear
Bat ear 		5 0 2 0.11 0 0
CUI: C4025810
Disease: Abnormal palmar dermatoglyphics
Abnormal palmar dermatoglyphics 		5 0 2 0.11 0 0
CUI: C1852085
Disease: Digitotalar Dysmorphism
Digitotalar Dysmorphism 		6 0 2 1.0E-01 0 0
CUI: C1860819
Disease: Metopic synostosis
Metopic synostosis 		28 5 4 1.0E-01 1 0.17
CUI: C4023796
Disease: Aplasia/Hypoplasia of the thymus
Aplasia/Hypoplasia of the thymus 		6 0 2 1.0E-01 0 0
CUI: C4021242
Disease: Hypoplasia of the zygomatic bone
Hypoplasia of the zygomatic bone 		29 0 4 9.8E-02 0 0
CUI: C1850325
Disease: Labial hypoplasia
Labial hypoplasia 		7 0 2 9.5E-02 0 0
CUI: C1832127
Disease: Square face
Square face 		8 0 2 9.1E-02 0 0
CUI: C1848514
Disease: Short fourth metatarsal
Short fourth metatarsal 		8 2 2 9.1E-02 1 0.33
CUI: C1856872
Disease: Down-sloping shoulders
Down-sloping shoulders 		32 0 4 9.1E-02 0 0
CUI: C0038018
Disease: Spondylolysis
Spondylolysis 		9 0 2 8.7E-02 0 0
CUI: C0220662
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 1
ARTHROGRYPOSIS, DISTAL, TYPE 1 		9 0 2 8.7E-02 0 0
CUI: C0265213
Disease: Distal arthrogryposis syndrome
Distal arthrogryposis syndrome 		22 0 3 8.6E-02 0 0
CUI: C1861388
Disease: Short 5th metacarpal
Short 5th metacarpal 		10 3 2 8.3E-02 1 0.25