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: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2 		16 0 1 6.2E-02 0 0
CUI: C1853638
Disease: Broad neck
Broad neck 		22 0 1 4.5E-02 0 0
CUI: C0155552
Disease: Hearing Loss, Mixed Conductive-Sensorineural
Hearing Loss, Mixed Conductive-Sensorineural 		23 0 1 4.3E-02 0 0
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		34 0 1 2.9E-02 0 0
CUI: C0744356
Disease: Abnormality of the genital system
Abnormality of the genital system 		36 0 1 2.8E-02 0 0
CUI: C2931245
Disease: Bone Marrow failure syndromes
Bone Marrow failure syndromes 		41 0 1 2.4E-02 0 0
CUI: C4021821
Disease: Abnormality of the urinary system
Abnormality of the urinary system 		50 0 1 2.0E-02 0 0
CUI: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic 		51 0 1 2.0E-02 0 0
CUI: C0001824
Disease: Agranulocytosis
Agranulocytosis 		55 0 1 1.8E-02 0 0
CUI: C0018564
Disease: Hand deformities
Hand deformities 		60 0 1 1.7E-02 0 0
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		68 0 1 1.5E-02 0 0
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		86 0 1 1.2E-02 0 0
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		117 0 1 8.5E-03 0 0
CUI: C0030232
Disease: Pallor
Pallor 		124 0 1 8.1E-03 0 0
CUI: C0043094
Disease: Weight Gain
Weight Gain 		124 0 1 8.1E-03 0 0
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		137 0 1 7.3E-03 0 0
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		145 0 1 6.9E-03 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 0 1 5.7E-03 0 0
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		196 0 1 5.1E-03 0 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		228 0 1 4.4E-03 0 0
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia 		239 0 1 4.2E-03 0 0
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		259 0 1 3.9E-03 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 0 1 3.8E-03 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 0 1 2.6E-03 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		417 0 1 2.4E-03 0 0