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: C0235971
Disease: Elevated alpha-fetoprotein
Elevated alpha-fetoprotein 		14 1 3 3.5E-02 1 0.20
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails 		42 1 2 1.7E-02 1 0.20
CUI: C1842680
Disease: Small earlobe
Small earlobe 		17 1 1 1.1E-02 1 0.20
CUI: C1857126
Disease: Parietal bossing
Parietal bossing 		7 1 1 1.2E-02 1 0.20
CUI: C1863715
Disease: Severe B lymphocytopenia
Severe B lymphocytopenia 		6 1 2 2.5E-02 1 0.20
CUI: C4082169
Disease: Metatarsus Varus
Metatarsus Varus 		41 3 2 1.8E-02 1 0.14
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		318 7 36 0.10 1 9.1E-02
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		25 9 1 1.0E-02 1 7.7E-02
CUI: C1847827
Disease: LIG4 Syndrome
LIG4 Syndrome 		2 13 1 1.3E-02 1 5.9E-02
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		239 16 33 0.12 1 5.0E-02
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		321 22 7 1.8E-02 1 3.8E-02
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		136 23 2 9.6E-03 1 3.7E-02
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		211 25 3 1.1E-02 1 3.4E-02
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		973 31 46 4.6E-02 1 2.9E-02
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		2 31 1 1.3E-02 1 2.9E-02
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		580 48 5 7.7E-03 1 1.9E-02
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia 		68 69 5 3.6E-02 1 1.4E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 77 27 2.1E-02 1 1.2E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		333 80 2 4.9E-03 1 1.2E-02
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		592 110 25 3.9E-02 1 8.8E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		166 122 5 2.1E-02 1 7.9E-03
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		362 247 4 9.2E-03 1 4.0E-03
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 23 2.0E-02 1 3.4E-03
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 617 5 9.8E-03 1 1.6E-03
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		384 698 10 2.2E-02 1 1.4E-03