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: C1839798
Disease: Long nose
Long nose 		29 0 5 8.8E-02 0 0
CUI: C1845123
Disease: Generalized neonatal hypotonia
Generalized neonatal hypotonia 		20 3 4 8.2E-02 1 0.20
CUI: C1851085
Disease: Severe expressive language delay
Severe expressive language delay 		11 0 3 7.3E-02 0 0
CUI: C4049328
Disease: Renal medullary carcinoma
Renal medullary carcinoma 		12 0 3 7.1E-02 0 0
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		75 0 7 6.9E-02 0 0
CUI: C1839783
Disease: Large forehead
Large forehead 		14 1 3 6.8E-02 1 0.33
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		96 0 8 6.6E-02 0 0
CUI: C1854465
Disease: TUBEROUS SCLEROSIS 1 (disorder)
TUBEROUS SCLEROSIS 1 (disorder) 		32 0 4 6.6E-02 0 0
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		114 0 9 6.5E-02 0 0
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		17 0 3 6.4E-02 0 0
CUI: C0426848
Disease: Sacral dimple
Sacral dimple 		69 0 6 6.2E-02 0 0
CUI: C0566899
Disease: Small labia majora
Small labia majora 		35 0 4 6.2E-02 0 0
CUI: C4021040
Disease: Freckled genitalia
Freckled genitalia 		2 0 2 6.1E-02 0 0
CUI: C4022717
Disease: Narrow nasal base
Narrow nasal base 		2 0 2 6.1E-02 0 0
CUI: C4023557
Disease: Abnormality of dental structure
Abnormality of dental structure 		2 0 2 6.1E-02 0 0
CUI: C4024048
Disease: Aplasia of the distal phalanx of the hallux
Aplasia of the distal phalanx of the hallux 		2 0 2 6.1E-02 0 0
CUI: C4024076
Disease: Aplasia/hypoplasia of the 1st metatarsal
Aplasia/hypoplasia of the 1st metatarsal 		2 0 2 6.1E-02 0 0
CUI: C4024173
Disease: Aplasia of the distal phalanges of the hand
Aplasia of the distal phalanges of the hand 		2 0 2 6.1E-02 0 0
CUI: C4024991
Disease: Aplasia/Hypoplasia of the scapulae
Aplasia/Hypoplasia of the scapulae 		2 0 2 6.1E-02 0 0
CUI: C1868577
Disease: Patella aplasia-hypoplasia
Patella aplasia-hypoplasia 		20 0 3 6.0E-02 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 0 12 5.9E-02 0 0
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		39 0 4 5.9E-02 0 0
CUI: C0241391
Disease: Thumb absent
Thumb absent 		21 0 3 5.9E-02 0 0
CUI: C1519714
Disease: Type II Endometrial Adenocarcinoma
Type II Endometrial Adenocarcinoma 		3 0 2 5.9E-02 0 0
CUI: C1844530
Disease: Midclavicular hypoplasia
Midclavicular hypoplasia 		3 0 2 5.9E-02 0 0