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: C0375206
Disease: Hemiplegia/hemiparesis
Hemiplegia/hemiparesis 		112 0 21 8.4E-02 0 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 0 35 8.4E-02 0 0
CUI: C0221270
Disease: Acanthosis
Acanthosis 		37 0 15 8.3E-02 0 0
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification 		103 0 20 8.3E-02 0 0
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		80 0 18 8.1E-02 0 0
CUI: C0004368
Disease: Autoimmune state
Autoimmune state 		70 0 17 8.0E-02 0 0
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		85 0 18 8.0E-02 0 0
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule 		59 0 16 7.9E-02 0 0
CUI: C0392777
Disease: Poikiloderma
Poikiloderma 		20 0 13 7.8E-02 0 0
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		89 11 18 7.8E-02 1 4.5E-02
CUI: C0401151
Disease: Chronic diarrhea
Chronic diarrhea 		62 0 16 7.8E-02 0 0
CUI: C3279947
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 		77 0 17 7.8E-02 0 0
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia 		78 0 17 7.7E-02 0 0
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium 		81 0 17 7.6E-02 0 0
CUI: C1968564
Disease: Defective DNA repair after ultraviolet radiation damage
Defective DNA repair after ultraviolet radiation damage 		12 0 12 7.5E-02 0 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1010 0 82 7.5E-02 0 0
CUI: C0005741
Disease: Blepharitis
Blepharitis 		55 3 15 7.5E-02 1 7.1E-02
CUI: C0221277
Disease: Atypical lymphocyte
Atypical lymphocyte 		13 0 12 7.5E-02 0 0
CUI: C0037277
Disease: Skin Diseases, Genetic
Skin Diseases, Genetic 		57 0 15 7.5E-02 0 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		345 0 35 7.5E-02 0 0
CUI: C4021976
Disease: Abnormality of the lymphatic system
Abnormality of the lymphatic system 		16 0 12 7.4E-02 0 0
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip 		105 0 18 7.3E-02 0 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		194 0 24 7.3E-02 0 0
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		271 0 29 7.2E-02 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1127 0 86 7.2E-02 0 0