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: C0265202
Disease: Seckel syndrome
Seckel syndrome 		56 0 14 0.21 0 0
CUI: C3808988
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q
FANCONI ANEMIA, COMPLEMENTATION GROUP Q 		4 0 4 0.16 0 0
CUI: C2748571
Disease: Isolated Growth Hormone Deficiency, Type IB
Isolated Growth Hormone Deficiency, Type IB 		3 0 3 0.12 0 0
CUI: C4722273
Disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV 		3 0 3 0.12 0 0
CUI: C4748435
Disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V 		3 0 3 0.12 0 0
CUI: C1849364
Disease: Absent earlobe
Absent earlobe 		14 0 4 0.11 0 0
CUI: C1833144
Disease: Slender long bone
Slender long bone 		35 0 6 0.11 0 0
CUI: C1969653
Disease: MUNGAN SYNDROME
MUNGAN SYNDROME 		15 0 4 0.11 0 0
CUI: C1720505
Disease: Adult growth hormone deficiency
Adult growth hormone deficiency 		6 0 3 0.11 0 0
CUI: C2749675
Disease: Cortical gyral simplification
Cortical gyral simplification 		39 0 6 0.10 0 0
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism 		41 0 6 1.0E-01 0 0
CUI: C3891556
Disease: CHROMOSOME Xq26.3 DUPLICATION SYNDROME
CHROMOSOME Xq26.3 DUPLICATION SYNDROME 		8 0 3 1.0E-01 0 0
CUI: C0854110
Disease: Insulin-resistant diabetes mellitus
Insulin-resistant diabetes mellitus 		21 0 4 9.5E-02 0 0
CUI: C0342381
Disease: Idiopathic growth hormone deficiency
Idiopathic growth hormone deficiency 		10 0 3 9.4E-02 0 0
CUI: C4021174
Disease: Microtia, third degree
Microtia, third degree 		10 0 3 9.4E-02 0 0
CUI: C0702139
Disease: Congenital absence of external ear
Congenital absence of external ear 		11 0 3 9.1E-02 0 0
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		36 0 5 8.9E-02 0 0
CUI: C1865037
Disease: Cone-shaped epiphysis
Cone-shaped epiphysis 		49 0 6 8.8E-02 0 0
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		39 0 5 8.5E-02 0 0
CUI: C0685776
Disease: Congenital absence of mandible
Congenital absence of mandible 		14 0 3 8.3E-02 0 0
CUI: C1857656
Disease: Prematurely aged appearance
Prematurely aged appearance 		40 0 5 8.3E-02 0 0
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		28 0 4 8.2E-02 0 0
CUI: C0266009
Disease: Congenital absence of breast
Congenital absence of breast 		15 0 3 8.1E-02 0 0
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		69 0 7 8.0E-02 0 0
CUI: C0271547
Disease: Overproduction of growth hormone
Overproduction of growth hormone 		2 0 2 8.0E-02 0 0