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: C0426868
Disease: Absence of hand
Absence of hand 		18 0 18 1.00 0 0
CUI: C3553754
Disease: Absent toe
Absent toe 		8 0 7 0.37 0 0
CUI: C2931779
Disease: Congenital defect of skull and scalp
Congenital defect of skull and scalp 		6 0 6 0.33 0 0
CUI: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome 		9 0 6 0.29 0 0
CUI: C3887496
Disease: Oligodactyly
Oligodactyly 		20 0 8 0.27 0 0
CUI: C0728895
Disease: Absent finger
Absent finger 		26 0 8 0.22 0 0
CUI: C4551482
Disease: Adams-Oliver syndrome 1
Adams-Oliver syndrome 1 		17 0 6 0.21 0 0
CUI: C0265908
Disease: Congenital atresia of pulmonary artery
Congenital atresia of pulmonary artery 		19 0 6 0.19 0 0
CUI: C1844554
Disease: Absent fingernail
Absent fingernail 		19 0 6 0.19 0 0
CUI: C0221373
Disease: Claw hand
Claw hand 		63 0 13 0.19 0 0
CUI: C0432028
Disease: Split foot
Split foot 		21 0 6 0.18 0 0
CUI: C0266009
Disease: Congenital absence of breast
Congenital absence of breast 		15 0 5 0.18 0 0
CUI: C4025787
Disease: Calvarial skull defect
Calvarial skull defect 		22 0 6 0.18 0 0
CUI: C1856749
Disease: Aplastic/hypoplastic toenail
Aplastic/hypoplastic toenail 		23 0 6 0.17 0 0
CUI: C1856786
Disease: Hypoplastic fingernail
Hypoplastic fingernail 		30 0 7 0.17 0 0
CUI: C0016508
Disease: Congenital Foot Deformity
Congenital Foot Deformity 		18 0 5 0.16 0 0
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		40 0 8 0.16 0 0
CUI: C0151860
Disease: Acquired porencephaly
Acquired porencephaly 		34 0 7 0.16 0 0
CUI: C4024213
Disease: Aplasia of the pectoralis major muscle
Aplasia of the pectoralis major muscle 		5 0 3 0.15 0 0
CUI: C4082172
Disease: Porencephalic cyst
Porencephalic cyst 		28 0 6 0.15 0 0
CUI: C0265554
Disease: Ectrodactyly
Ectrodactyly 		36 0 7 0.15 0 0
CUI: C1836192
Disease: Aplasia/Hypoplasia involving the metacarpal bones
Aplasia/Hypoplasia involving the metacarpal bones 		7 0 3 0.14 0 0
CUI: C1785148
Disease: RAPP-HODGKIN SYNDROME
RAPP-HODGKIN SYNDROME 		9 0 3 0.12 0 0
CUI: C3164374
Disease: Abnormality of pulmonary valve
Abnormality of pulmonary valve 		40 0 6 0.12 0 0
CUI: C0853240
Disease: Mobius II syndrome
Mobius II syndrome 		2 0 2 0.11 0 0