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: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		40 7 25 0.11 1 3.1E-02
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 44 0.11 0 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 10 58 0.11 1 2.9E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 80 0.11 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 122 0.11 0 0
CUI: C4021776
Disease: Abnormality of the voice
Abnormality of the voice 		64 0 27 0.11 0 0
CUI: C0016202
Disease: Flatfoot
Flatfoot 		285 0 48 0.11 0 0
CUI: C0003126
Disease: Anosmia
Anosmia 		40 0 24 0.11 0 0
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		71 0 27 0.11 0 0
CUI: C4025644
Disease: Hypothalamic gonadotropin-releasing hormone deficiency
Hypothalamic gonadotropin-releasing hormone deficiency 		22 0 22 0.11 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 77 141 0.11 1 9.8E-03
CUI: C1849039
Disease: Metaphyseal widening
Metaphyseal widening 		43 0 24 0.11 0 0
CUI: C0576226
Disease: Short foot
Short foot 		116 0 31 0.11 0 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		315 0 50 0.11 0 0
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		305 0 49 0.11 0 0
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity 		117 0 31 0.11 0 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		129 0 32 0.11 0 0
CUI: C4022003
Disease: Erectile abnormalities
Erectile abnormalities 		24 0 22 0.11 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 127 0.11 2 6.3E-03
CUI: C0521525
Disease: Short neck
Short neck 		288 0 47 0.10 0 0
CUI: C0266013
Disease: Congenital hypoplasia of breast
Congenital hypoplasia of breast 		38 0 23 0.10 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 74 0.10 0 0
CUI: C0038015
Disease: Spondyloepiphyseal Dysplasia
Spondyloepiphyseal Dysplasia 		29 0 22 0.10 0 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 0 57 0.10 0 0
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		86 0 27 0.10 0 0