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: C1849265
Disease: Overgrowth
Overgrowth 		103 0 1 9.7E-03 0 0
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		105 0 1 9.5E-03 0 0
CUI: C1843108
Disease: Short palm
Short palm 		110 0 1 9.1E-03 0 0
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla 		113 0 1 8.8E-03 0 0
CUI: C0002171
Disease: Alopecia Areata
Alopecia Areata 		114 0 1 8.8E-03 0 0
CUI: C0576226
Disease: Short foot
Short foot 		116 0 1 8.6E-03 0 0
CUI: C0206681
Disease: Adenocarcinoma, Clear Cell
Adenocarcinoma, Clear Cell 		117 0 1 8.5E-03 0 0
CUI: C0241355
Disease: Small testicle
Small testicle 		129 0 1 7.8E-03 0 0
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		129 0 1 7.8E-03 0 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		129 0 1 7.8E-03 0 0
CUI: C1266043
Disease: Sarcomatoid Renal Cell Carcinoma
Sarcomatoid Renal Cell Carcinoma 		134 0 1 7.5E-03 0 0
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		141 0 1 7.1E-03 0 0
CUI: C0020490
Disease: Hyperopia
Hyperopia 		142 0 1 7.0E-03 0 0
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		142 0 1 7.0E-03 0 0
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		144 93 1 6.9E-03 1 8.6E-03
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		148 0 1 6.8E-03 0 0
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		148 0 1 6.8E-03 0 0
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		150 0 1 6.7E-03 0 0
CUI: C1855285
Disease: Protruding ear
Protruding ear 		152 0 1 6.6E-03 0 0
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		160 0 1 6.3E-03 0 0
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers 		160 0 1 6.3E-03 0 0
CUI: C1266044
Disease: Collecting Duct Carcinoma of the Kidney
Collecting Duct Carcinoma of the Kidney 		162 0 1 6.2E-03 0 0
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		168 0 1 6.0E-03 0 0
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		171 0 1 5.8E-03 0 0
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		172 0 1 5.8E-03 0 0