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: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		32 0 31 0.30 0 0
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		107 0 24 0.13 0 0
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome 		20 0 12 0.11 0 0
CUI: C2931276
Disease: Spastic paraplegia 17
Spastic paraplegia 17 		12 3 11 0.10 2 0.15
CUI: C2986703
Disease: Overgrowth Syndrome
Overgrowth Syndrome 		36 0 12 9.4E-02 0 0
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder) 		50 0 13 9.2E-02 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 12 9.0E-02 0 0
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		46 0 12 8.7E-02 0 0
CUI: C0347915
Disease: Congenital malformation syndromes associated with short stature
Congenital malformation syndromes associated with short stature 		9 0 9 8.7E-02 0 0
CUI: C0175691
Disease: Dubowitz syndrome
Dubowitz syndrome 		12 0 9 8.4E-02 0 0
CUI: C1849157
Disease: Resistance to Insulin-Like Growth Factor I
Resistance to Insulin-Like Growth Factor I 		55 0 12 8.2E-02 0 0
CUI: C4509816
Disease: Squamous non-small cell lung cancer
Squamous non-small cell lung cancer 		30 0 10 8.1E-02 0 0
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		85 0 14 8.0E-02 0 0
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		47 0 11 7.9E-02 0 0
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		48 0 11 7.8E-02 0 0
CUI: C4015558
Disease: Temple syndrome
Temple syndrome 		10 0 8 7.5E-02 0 0
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		154 0 18 7.5E-02 0 0
CUI: C1833308
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V 		12 16 8 7.4E-02 2 7.7E-02
CUI: C0748607
Disease: Recurrent seizure
Recurrent seizure 		44 0 10 7.2E-02 0 0
CUI: C0206726
Disease: gliosarcoma
gliosarcoma 		80 0 12 7.0E-02 0 0
CUI: C0279612
Disease: Childhood Embryonal Rhabdomyosarcoma
Childhood Embryonal Rhabdomyosarcoma 		67 0 11 6.9E-02 0 0
CUI: C0878787
Disease: Growth failure
Growth failure 		84 0 12 6.8E-02 0 0
CUI: C1853737
Disease: Prominent occiput
Prominent occiput 		53 0 10 6.8E-02 0 0
CUI: C1301194
Disease: Salivary duct carcinoma
Salivary duct carcinoma 		54 0 10 6.8E-02 0 0
CUI: C0332890
Disease: Congenital hemihypertrophy
Congenital hemihypertrophy 		23 0 8 6.7E-02 0 0