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: C1844555
Disease: Absent toenail
Absent toenail 		11 0 9 0.43 0 0
CUI: C2931779
Disease: Congenital defect of skull and scalp
Congenital defect of skull and scalp 		6 0 6 0.32 0 0
CUI: C3553754
Disease: Absent toe
Absent toe 		8 0 6 0.29 0 0
CUI: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome 		9 0 6 0.27 0 0
CUI: C1856786
Disease: Hypoplastic fingernail
Hypoplastic fingernail 		30 0 9 0.23 0 0
CUI: C1856749
Disease: Aplastic/hypoplastic toenail
Aplastic/hypoplastic toenail 		23 0 7 0.20 0 0
CUI: C4551482
Disease: Adams-Oliver syndrome 1
Adams-Oliver syndrome 1 		17 0 6 0.20 0 0
CUI: C0265594
Disease: Congenital absence of hand
Congenital absence of hand 		18 0 6 0.19 0 0
CUI: C0426868
Disease: Absence of hand
Absence of hand 		18 0 6 0.19 0 0
CUI: C0152415
Disease: Ankyloglossia
Ankyloglossia 		19 0 6 0.19 0 0
CUI: C0265908
Disease: Congenital atresia of pulmonary artery
Congenital atresia of pulmonary artery 		19 0 6 0.19 0 0
CUI: C4025787
Disease: Calvarial skull defect
Calvarial skull defect 		22 0 6 0.17 0 0
CUI: C4281601
Disease: Foot oligodactyly
Foot oligodactyly 		9 0 4 0.17 0 0
CUI: C2678480
Disease: Chromosome 22q11.2 Deletion Syndrome, Distal
Chromosome 22q11.2 Deletion Syndrome, Distal 		3 0 3 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: C4082172
Disease: Porencephalic cyst
Porencephalic cyst 		28 0 6 0.15 0 0
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		85 0 13 0.14 0 0
CUI: C3164374
Disease: Abnormality of pulmonary valve
Abnormality of pulmonary valve 		40 0 7 0.13 0 0
CUI: C0151860
Disease: Acquired porencephaly
Acquired porencephaly 		34 0 6 0.13 0 0
CUI: C0546968
Disease: Fistula of branchial cleft
Fistula of branchial cleft 		8 0 3 0.12 0 0
CUI: C4021808
Disease: Abnormality of earlobe
Abnormality of earlobe 		9 0 3 0.12 0 0
CUI: C0221373
Disease: Claw hand
Claw hand 		63 0 8 0.11 0 0
CUI: C0079136
Disease: Cockayne-Touraine Disease
Cockayne-Touraine Disease 		2 0 2 0.11 0 0
CUI: C0238115
Disease: Boerhaave syndrome
Boerhaave syndrome 		2 0 2 0.11 0 0
CUI: C1836193
Disease: Synostosis of carpal bones
Synostosis of carpal bones 		23 0 4 0.11 0 0