Source: INFERRED ×
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: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		11 73 9 0.64 53 0.31
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		6 32 6 0.50 25 0.16
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		13 9 7 0.39 8 5.2E-02
CUI: C0558165
Disease: Curly hair (finding)
Curly hair (finding) 		24 7 9 0.33 5 3.2E-02
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		4 70 4 0.33 24 0.12
CUI: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal 		16 0 7 0.33 0 0
CUI: C1864796
Disease: Pectus excavatum of inferior sternum
Pectus excavatum of inferior sternum 		5 0 4 0.31 0 0
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		6 53 4 0.29 23 0.13
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function 		21 0 7 0.27 0 0
CUI: C4022755
Disease: Functional abnormality of the gastrointestinal tract
Functional abnormality of the gastrointestinal tract 		7 0 4 0.27 0 0
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		3 17 3 0.25 11 6.9E-02
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
Organoid Nevus Phakomatosis 		3 7 3 0.25 2 1.3E-02
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease 		23 8 7 0.25 1 6.3E-03
CUI: C3854181
Disease: Nevus sebaceous
Nevus sebaceous 		3 4 3 0.25 1 6.4E-03
CUI: C4552097
Disease: Nevus Sebaceus of Jadassohn
Nevus Sebaceus of Jadassohn 		3 7 3 0.25 2 1.3E-02
CUI: C4020962
Disease: Enlarged thorax
Enlarged thorax 		25 0 7 0.23 0 0
CUI: C4025749
Disease: Abnormality of the spleen
Abnormality of the spleen 		26 0 7 0.23 0 0
CUI: C1837732
Disease: Thickened helices
Thickened helices 		37 3 9 0.23 1 6.5E-03
CUI: C1860245
Disease: Cranial asymmetry
Cranial asymmetry 		10 3 4 0.22 1 6.5E-03
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		33 190 8 0.22 6 1.8E-02
CUI: C0206729
Disease: Neurofibrosarcoma
Neurofibrosarcoma 		5 0 3 0.21 0 0
CUI: C1864795
Disease: Superior pectus carinatum
Superior pectus carinatum 		5 0 3 0.21 0 0
CUI: C4024692
Disease: Reduced factor XIII activity
Reduced factor XIII activity 		5 0 3 0.21 0 0
CUI: C4073145
Disease: Hyperkeratosis pilaris
Hyperkeratosis pilaris 		5 3 3 0.21 2 1.3E-02
CUI: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity 		29 0 7 0.21 0 0