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: C4022120
Disease: Aplasia/Hypoplasia of the distal phalanx of the 5th toe
Aplasia/Hypoplasia of the distal phalanx of the 5th toe 		10 0 5 0.45 0 0
CUI: C4024507
Disease: Aplasia/Hypoplasia of the distal phalanx of the 5th finger
Aplasia/Hypoplasia of the distal phalanx of the 5th finger 		10 0 5 0.45 0 0
CUI: C4024682
Disease: Hypoplastic fifth fingernail
Hypoplastic fifth fingernail 		11 3 5 0.42 1 1.6E-02
CUI: C4023116
Disease: Hypoplastic fifth toenail
Hypoplastic fifth toenail 		12 4 5 0.38 2 3.2E-02
CUI: C0729582
Disease: Floating-harbor syndrome
Floating-harbor syndrome 		4 0 2 0.25 0 0
CUI: C1859115
Disease: Prominent interphalangeal joints
Prominent interphalangeal joints 		4 0 2 0.25 0 0
CUI: C1868577
Disease: Patella aplasia-hypoplasia
Patella aplasia-hypoplasia 		20 0 5 0.24 0 0
CUI: C1303073
Disease: Nicolaides Baraitser syndrome
Nicolaides Baraitser syndrome 		18 0 4 0.20 0 0
CUI: C1861336
Disease: Aplasia/Hypoplasia of the distal phalanges of the hand
Aplasia/Hypoplasia of the distal phalanges of the hand 		6 0 2 0.20 0 0
CUI: C1851095
Disease: Lumbosacral hirsutism
Lumbosacral hirsutism 		1 1 1 0.17 1 1.6E-02
CUI: C2750074
Disease: Rhabdoid Tumor Predisposition Syndrome 2
Rhabdoid Tumor Predisposition Syndrome 2 		1 0 1 0.17 0 0
CUI: C3553247
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 14
MENTAL RETARDATION, AUTOSOMAL DOMINANT 14 		1 12 1 0.17 1 1.4E-02
CUI: C3553249
Disease: COFFIN-SIRIS SYNDROME 4
COFFIN-SIRIS SYNDROME 4 		1 0 1 0.17 0 0
CUI: C3839982
Disease: Small cell carcinoma, hypercalcemic type
Small cell carcinoma, hypercalcemic type 		1 0 1 0.17 0 0
CUI: C4021006
Disease: Short distal phalanx of the 5th toe
Short distal phalanx of the 5th toe 		1 0 1 0.17 0 0
CUI: C4021801
Disease: Lacrimation abnormality
Lacrimation abnormality 		29 0 5 0.17 0 0
CUI: C4304527
Disease: 6q25 microdeletion syndrome
6q25 microdeletion syndrome 		1 0 1 0.17 0 0
CUI: C4310788
Disease: COFFIN-SIRIS SYNDROME 5
COFFIN-SIRIS SYNDROME 5 		1 0 1 0.17 0 0
CUI: C4551629
Disease: Congenital talipes calcaneovalgus
Congenital talipes calcaneovalgus 		1 1 1 0.17 1 1.6E-02
CUI: C4747954
Disease: COFFIN-SIRIS SYNDROME 7
COFFIN-SIRIS SYNDROME 7 		1 5 1 0.17 1 1.5E-02
CUI: C4025249
Disease: Abnormality of the intervertebral disk
Abnormality of the intervertebral disk 		30 0 5 0.16 0 0
CUI: C1844809
Disease: Thick nasal alae
Thick nasal alae 		17 0 3 0.15 0 0
CUI: C0035440
Disease: Acute rheumatic heart disease
Acute rheumatic heart disease 		2 0 1 0.14 0 0
CUI: C0265837
Disease: Congenital hypoplasia of tricuspid valve
Congenital hypoplasia of tricuspid valve 		2 0 1 0.14 0 0
CUI: C1302454
Disease: Complex atypical endometrial hyperplasia
Complex atypical endometrial hyperplasia 		2 0 1 0.14 0 0