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: C0014008
Disease: Empty Sella Syndrome
Empty Sella Syndrome 		4 0 2 0.11 0 0
CUI: C0271695
Disease: Rabson-Mendenhall Syndrome
Rabson-Mendenhall Syndrome 		4 0 2 0.11 0 0
CUI: C0546297
Disease: Hallux Varus
Hallux Varus 		4 0 2 0.11 0 0
CUI: C1394030
Disease: Coronal hypospadias
Coronal hypospadias 		4 0 2 0.11 0 0
CUI: C1858569
Disease: Absence of Stensen duct
Absence of Stensen duct 		4 0 2 0.11 0 0
CUI: C1968574
Disease: Hypoplastic lacrimal duct
Hypoplastic lacrimal duct 		4 0 2 0.11 0 0
CUI: C2919414
Disease: Low density lipoprotein receptor mutation
Low density lipoprotein receptor mutation 		4 0 2 0.11 0 0
CUI: C4024345
Disease: Radial deviation of the 3rd finger
Radial deviation of the 3rd finger 		4 0 2 0.11 0 0
CUI: C4318479
Disease: Growth Hormone Insensitivity Syndrome
Growth Hormone Insensitivity Syndrome 		4 0 2 0.11 0 0
CUI: C0039093
Disease: Congenital abnormal Synostosis
Congenital abnormal Synostosis 		25 7 4 0.11 1 2.1E-02
CUI: C0263661
Disease: Disorder of skeletal system
Disorder of skeletal system 		25 1 4 0.11 1 2.4E-02
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		46 21 6 0.11 9 0.17
CUI: C0152417
Disease: Congenital stenosis of aortic valve
Congenital stenosis of aortic valve 		5 0 2 0.11 0 0
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		5 33 2 0.11 7 0.10
CUI: C0266184
Disease: Congenital duodenal obstruction due to malrotation of intestine
Congenital duodenal obstruction due to malrotation of intestine 		5 0 2 0.11 0 0
CUI: C0405578
Disease: Gigantism and acromegaly
Gigantism and acromegaly 		5 0 2 0.11 0 0
CUI: C0846967
Disease: Acanthoma
Acanthoma 		5 0 2 0.11 0 0
CUI: C0858734
Disease: Insulin hypoglycemia
Insulin hypoglycemia 		5 0 2 0.11 0 0
CUI: C1849524
Disease: Pygmy (disorder)
Pygmy (disorder) 		5 0 2 0.11 0 0
CUI: C1864356
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE 		5 0 2 0.11 0 0
CUI: C2676443
Disease: Proximal radio-ulnar synostosis
Proximal radio-ulnar synostosis 		5 0 2 0.11 0 0
CUI: C0345371
Disease: Hypoplasia of lower limb
Hypoplasia of lower limb 		6 3 2 1.0E-01 1 2.3E-02
CUI: C0740749
Disease: Chronic metabolic acidosis
Chronic metabolic acidosis 		6 0 2 1.0E-01 0 0
CUI: C1275277
Disease: Soft tissue chondroma
Soft tissue chondroma 		6 0 2 1.0E-01 0 0
CUI: C1720505
Disease: Adult growth hormone deficiency
Adult growth hormone deficiency 		6 0 2 1.0E-01 0 0