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: C2931482
Disease: Neurofibromatosis-Noonan syndrome
Neurofibromatosis-Noonan syndrome 		4 0 1 0.20 0 0
CUI: C0263428
Disease: Burnett Schwartz Berberian syndrome
Burnett Schwartz Berberian syndrome 		5 0 1 0.17 0 0
CUI: C0266368
Disease: Congenital absence of ovary
Congenital absence of ovary 		5 0 1 0.17 0 0
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		5 29 1 0.17 1 2.6E-02
CUI: C0457179
Disease: Desmoplastic infantile astrocytoma
Desmoplastic infantile astrocytoma 		5 0 1 0.17 0 0
CUI: C0558844
Disease: Knee reflex absent
Knee reflex absent 		5 0 1 0.17 0 0
CUI: C1864795
Disease: Superior pectus carinatum
Superior pectus carinatum 		5 0 1 0.17 0 0
CUI: C1864796
Disease: Pectus excavatum of inferior sternum
Pectus excavatum of inferior sternum 		5 0 1 0.17 0 0
CUI: C3548532
Disease: response to alcohol
response to alcohol 		5 0 1 0.17 0 0
CUI: C4024692
Disease: Reduced factor XIII activity
Reduced factor XIII activity 		5 0 1 0.17 0 0
CUI: C0240083
Disease: Abnormal joint morphology
Abnormal joint morphology 		6 0 1 0.14 0 0
CUI: C0476147
Disease: Chondrogenic Neoplasm
Chondrogenic Neoplasm 		6 0 1 0.14 0 0
CUI: C0795693
Disease: Skeletal malformation
Skeletal malformation 		6 0 1 0.14 0 0
CUI: C0852920
Disease: Colitis aggravated
Colitis aggravated 		6 0 1 0.14 0 0
CUI: C0949173
Disease: Delayed menarche
Delayed menarche 		6 0 1 0.14 0 0
CUI: C3163961
Disease: Dysplastic nodule
Dysplastic nodule 		6 0 1 0.14 0 0
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		6 26 1 0.14 1 2.9E-02
CUI: C0266548
Disease: Axenfeld anomaly (disorder)
Axenfeld anomaly (disorder) 		7 0 1 0.12 0 0
CUI: C0338597
Disease: Choroid plexus cyst
Choroid plexus cyst 		7 0 1 0.12 0 0
CUI: C0398639
Disease: Amegakaryocytic thrombocytopenia
Amegakaryocytic thrombocytopenia 		7 0 1 0.12 0 0
CUI: C1857126
Disease: Parietal bossing
Parietal bossing 		7 0 1 0.12 0 0
CUI: C0024454
Disease: Maffucci Syndrome
Maffucci Syndrome 		8 0 1 0.11 0 0
CUI: C0265509
Disease: Congenital anomaly of skeletal bone
Congenital anomaly of skeletal bone 		8 0 1 0.11 0 0
CUI: C0575897
Disease: Thumb deformity
Thumb deformity 		8 0 1 0.11 0 0
CUI: C0857862
Disease: Staphylococcus Aureus Pneumonia
Staphylococcus Aureus Pneumonia 		8 0 1 0.11 0 0