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: C0158713
Disease: Bilateral congenital dislocation of hip
Bilateral congenital dislocation of hip 		2 0 1 0.50 0 0
CUI: C0877243
Disease: Increased serum serotonin
Increased serum serotonin 		8 0 1 0.12 0 0
CUI: C0878681
Disease: Dent's disease
Dent's disease 		23 0 1 4.3E-02 0 0
CUI: C0006325
Disease: Bruxism
Bruxism 		24 0 1 4.2E-02 0 0
CUI: C0019572
Disease: Hirsutism
Hirsutism 		88 0 1 1.1E-02 0 0
CUI: C0575802
Disease: Small hand
Small hand 		108 0 1 9.3E-03 0 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		112 0 1 8.9E-03 0 0
CUI: C0576226
Disease: Short foot
Short foot 		116 0 1 8.6E-03 0 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		129 0 1 7.8E-03 0 0
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		141 0 1 7.1E-03 0 0
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		156 0 1 6.4E-03 0 0
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		181 0 1 5.5E-03 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		232 0 1 4.3E-03 0 0
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		285 0 1 3.5E-03 0 0
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		305 0 1 3.3E-03 0 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		318 0 1 3.1E-03 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 1 2.4E-03 0 0
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		424 0 1 2.4E-03 0 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		426 0 1 2.3E-03 0 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		429 0 1 2.3E-03 0 0
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		446 0 1 2.2E-03 0 0
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		505 0 1 2.0E-03 0 0
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		535 0 1 1.9E-03 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 1 1.7E-03 0 0
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		607 0 1 1.6E-03 0 0