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: C0238397
Disease: Pulmonary artery stenosis
Pulmonary artery stenosis 		36 0 19 0.33 0 0
CUI: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal 		16 0 14 0.33 0 0
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function 		21 0 14 0.30 0 0
CUI: C1843181
Disease: Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 		19 0 13 0.28 0 0
CUI: C4020962
Disease: Enlarged thorax
Enlarged thorax 		25 0 14 0.27 0 0
CUI: C4025749
Disease: Abnormality of the spleen
Abnormality of the spleen 		26 0 14 0.27 0 0
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		22 0 13 0.27 0 0
CUI: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity 		29 0 14 0.25 0 0
CUI: C4023909
Disease: Aplasia/Hypoplasia of the abdominal wall musculature
Aplasia/Hypoplasia of the abdominal wall musculature 		32 0 14 0.24 0 0
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		28 0 13 0.24 0 0
CUI: C4024912
Disease: Occipital myelomeningocele
Occipital myelomeningocele 		9 0 9 0.23 0 0
CUI: C1837732
Disease: Thickened helices
Thickened helices 		37 0 14 0.22 0 0
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		12 0 9 0.21 0 0
CUI: C4021161
Disease: Multiple suture craniosynostosis
Multiple suture craniosynostosis 		12 0 9 0.21 0 0
CUI: C4021975
Disease: Abnormality of the tonsils
Abnormality of the tonsils 		12 0 9 0.21 0 0
CUI: C3163801
Disease: Abnormality of aortic arch
Abnormality of aortic arch 		13 0 9 0.20 0 0
CUI: C0206620
Disease: Lymphangioma, Cystic
Lymphangioma, Cystic 		43 0 14 0.20 0 0
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern 		44 0 14 0.20 0 0
CUI: C0266383
Disease: Uterine Anomalies
Uterine Anomalies 		35 0 12 0.19 0 0
CUI: C1842680
Disease: Small earlobe
Small earlobe 		17 0 9 0.19 0 0
CUI: C0039621
Disease: Tetany
Tetany 		24 0 10 0.19 0 0
CUI: C0032209
Disease: Platybasia
Platybasia 		18 0 9 0.18 0 0
CUI: C0243002
Disease: Tricuspid Atresia
Tricuspid Atresia 		18 0 9 0.18 0 0
CUI: C0795907
Disease: CONOTRUNCAL ANOMALY FACE SYNDROME
CONOTRUNCAL ANOMALY FACE SYNDROME 		18 0 9 0.18 0 0
CUI: C1860127
Disease: Impaired T cell function
Impaired T cell function 		18 0 9 0.18 0 0