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: C1969176
Disease: Hypoplastic pubic rami
Hypoplastic pubic rami 		3 0 3 0.19 0 0
CUI: C1848977
Disease: Short upper lip
Short upper lip 		12 0 4 0.17 0 0
CUI: C0175755
Disease: Congenital absent nipple
Congenital absent nipple 		7 0 3 0.15 0 0
CUI: C0425795
Disease: Absent nipple (finding)
Absent nipple (finding) 		7 0 3 0.15 0 0
CUI: C1855698
Disease: Aplasia cutis congenita of scalp
Aplasia cutis congenita of scalp 		7 0 3 0.15 0 0
CUI: C0266249
Disease: Gallbladder anomaly congenital
Gallbladder anomaly congenital 		8 0 3 0.14 0 0
CUI: C4021834
Disease: Abnormal parietal bone morphology
Abnormal parietal bone morphology 		9 0 3 0.14 0 0
CUI: C0426816
Disease: Absence of rib
Absence of rib 		18 0 4 0.13 0 0
CUI: C2931216
Disease: Tetra-amelia autosomal recessive
Tetra-amelia autosomal recessive 		2 0 2 0.12 0 0
CUI: C2931218
Disease: Tetraamelia multiple malformations
Tetraamelia multiple malformations 		2 0 2 0.12 0 0
CUI: C4022717
Disease: Narrow nasal base
Narrow nasal base 		2 0 2 0.12 0 0
CUI: C4023557
Disease: Abnormality of dental structure
Abnormality of dental structure 		2 0 2 0.12 0 0
CUI: C4024048
Disease: Aplasia of the distal phalanx of the hallux
Aplasia of the distal phalanx of the hallux 		2 0 2 0.12 0 0
CUI: C4024076
Disease: Aplasia/hypoplasia of the 1st metatarsal
Aplasia/hypoplasia of the 1st metatarsal 		2 0 2 0.12 0 0
CUI: C4024173
Disease: Aplasia of the distal phalanges of the hand
Aplasia of the distal phalanges of the hand 		2 0 2 0.12 0 0
CUI: C4024991
Disease: Aplasia/Hypoplasia of the scapulae
Aplasia/Hypoplasia of the scapulae 		2 0 2 0.12 0 0
CUI: C4024996
Disease: Aplasia/Hypoplasia of the lungs
Aplasia/Hypoplasia of the lungs 		29 0 5 0.12 0 0
CUI: C4025876
Disease: Abnormality of the fontanelles or cranial sutures
Abnormality of the fontanelles or cranial sutures 		2 0 2 0.12 0 0
CUI: C4524104
Disease: Trisomy 4p
Trisomy 4p 		2 0 2 0.12 0 0
CUI: C1844825
Disease: Hyperconvex fingernails
Hyperconvex fingernails 		12 0 3 0.12 0 0
CUI: C1968999
Disease: Rib segmentation abnormalities
Rib segmentation abnormalities 		12 0 3 0.12 0 0
CUI: C1857663
Disease: Yunis Varon syndrome
Yunis Varon syndrome 		3 0 2 0.12 0 0
CUI: C1862159
Disease: Short proximal phalanx of hallux
Short proximal phalanx of hallux 		3 0 2 0.12 0 0
CUI: C1970011
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 		3 0 2 0.12 0 0
CUI: C2675547
Disease: Slender long bones with narrow diaphyses
Slender long bones with narrow diaphyses 		3 0 2 0.12 0 0