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: C0016064
Disease: Fibrous Dysplasia, Monostotic
Fibrous Dysplasia, Monostotic 		1 0 1 0.20 0 0
CUI: C0152207
Disease: Alternating Exotropia
Alternating Exotropia 		1 1 1 0.20 1 0.25
CUI: C0265593
Disease: Brachymetacarpia
Brachymetacarpia 		1 0 1 0.20 0 0
CUI: C0281952
Disease: Pseudohypothyroidism
Pseudohypothyroidism 		1 0 1 0.20 0 0
CUI: C1707332
Disease: Cellular Myxoma
Cellular Myxoma 		1 0 1 0.20 0 0
CUI: C1845019
Disease: Left ventricular septal hypertrophy
Left ventricular septal hypertrophy 		1 1 1 0.20 1 0.25
CUI: C2675383
Disease: POLYOSTOTIC FIBROUS DYSPLASIA, SOMATIC, MOSAIC
POLYOSTOTIC FIBROUS DYSPLASIA, SOMATIC, MOSAIC 		1 0 1 0.20 0 0
CUI: C3806616
Disease: Macular hypopigmented whorls, streaks, and patches
Macular hypopigmented whorls, streaks, and patches 		1 1 1 0.20 1 0.25
CUI: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2 		1 0 1 0.20 0 0
CUI: C4016140
Disease: PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS
PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS 		1 0 1 0.20 0 0
CUI: C4021810
Disease: Abnormal location of ears
Abnormal location of ears 		1 1 1 0.20 1 0.25
CUI: C4023625
Disease: Absence of stomach bubble on fetal sonography
Absence of stomach bubble on fetal sonography 		1 1 1 0.20 1 0.25
CUI: C4024097
Disease: Broad 1st metacarpal
Broad 1st metacarpal 		1 0 1 0.20 0 0
CUI: C4024854
Disease: Irregular hyperpigmentation of back
Irregular hyperpigmentation of back 		1 1 1 0.20 1 0.25
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME 		1 0 1 0.20 0 0
CUI: C4225280
Disease: NOONAN SYNDROME 10
NOONAN SYNDROME 10 		1 0 1 0.20 0 0
CUI: C4225386
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 		1 7 1 0.20 1 1.0E-01
CUI: C4476709
Disease: Delayed ability to stand
Delayed ability to stand 		1 1 1 0.20 1 0.25
CUI: C4479673
Disease: FOCAL CORTICAL DYSPLASIA, TYPE II, SOMATIC
FOCAL CORTICAL DYSPLASIA, TYPE II, SOMATIC 		1 0 1 0.20 0 0
CUI: C4540135
Disease: PITUITARY ADENOMA 3, MULTIPLE TYPES
PITUITARY ADENOMA 3, MULTIPLE TYPES 		1 0 1 0.20 0 0
CUI: C4540536
Disease: PITUITARY TUMOR 3, GROWTH HORMONE-SECRETING, SOMATIC
PITUITARY TUMOR 3, GROWTH HORMONE-SECRETING, SOMATIC 		1 0 1 0.20 0 0
CUI: C4551756
Disease: Waldenstrom's macroglobulinaemia refractory
Waldenstrom's macroglobulinaemia refractory 		1 0 1 0.20 0 0
CUI: C4023009
Disease: Constrictive median neuropathy
Constrictive median neuropathy 		8 0 2 0.18 0 0
CUI: C0013691
Disease: Chylous effusion
Chylous effusion 		2 0 1 0.17 0 0
CUI: C0270932
Disease: Paraneoplastic Polyneuropathy
Paraneoplastic Polyneuropathy 		2 0 1 0.17 0 0