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: C4021621
Disease: Absent fourth finger distal interphalangeal crease
Absent fourth finger distal interphalangeal crease 		1 0 1 1.00 0 0
CUI: C1847572
Disease: SECKEL SYNDROME 2
SECKEL SYNDROME 2 		2 0 1 0.50 0 0
CUI: C1850336
Disease: Single interphalangeal crease of fifth finger
Single interphalangeal crease of fifth finger 		2 0 1 0.50 0 0
CUI: C4024881
Disease: Few cafe-au-lait spots
Few cafe-au-lait spots 		3 0 1 0.33 0 0
CUI: C1837836
Disease: 4-5 toe syndactyly
4-5 toe syndactyly 		4 0 1 0.25 0 0
CUI: C0347284
Disease: Benign tumor of pancreas
Benign tumor of pancreas 		13 0 1 7.7E-02 0 0
CUI: C1849364
Disease: Absent earlobe
Absent earlobe 		14 0 1 7.1E-02 0 0
CUI: C1834060
Disease: Short middle phalanx of the 5th finger
Short middle phalanx of the 5th finger 		17 0 1 5.9E-02 0 0
CUI: C0025988
Disease: Microglossia
Microglossia 		19 0 1 5.3E-02 0 0
CUI: C1857790
Disease: Thoracic scoliosis
Thoracic scoliosis 		23 0 1 4.3E-02 0 0
CUI: C0034362
Disease: Q Fever
Q Fever 		26 0 1 3.8E-02 0 0
CUI: C0018808
Disease: Heart murmur
Heart murmur 		31 0 1 3.2E-02 0 0
CUI: C0241703
Disease: High pitched voice
High pitched voice 		35 0 1 2.9E-02 0 0
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		36 0 1 2.8E-02 0 0
CUI: C1334015
Disease: High Grade Intraepithelial Neoplasia
High Grade Intraepithelial Neoplasia 		38 0 1 2.6E-02 0 0
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		39 0 1 2.6E-02 0 0
CUI: C1857656
Disease: Prematurely aged appearance
Prematurely aged appearance 		40 0 1 2.5E-02 0 0
CUI: C1865037
Disease: Cone-shaped epiphysis
Cone-shaped epiphysis 		49 0 1 2.0E-02 0 0
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		51 0 1 2.0E-02 0 0
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		56 0 1 1.8E-02 0 0
CUI: C0018536
Disease: Hallux Valgus
Hallux Valgus 		61 0 1 1.6E-02 0 0
CUI: C1840069
Disease: Sandal gap
Sandal gap 		62 0 1 1.6E-02 0 0
CUI: C4024202
Disease: Reduced number of teeth
Reduced number of teeth 		67 0 1 1.5E-02 0 0
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		69 0 1 1.4E-02 0 0
CUI: C0426415
Disease: Large nose
Large nose 		70 0 1 1.4E-02 0 0