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: C0239804
Disease: White hair
White hair 		18 0 11 0.46 0 0
CUI: C4020958
Disease: Rough bone trabeculation
Rough bone trabeculation 		19 0 11 0.44 0 0
CUI: C1846142
Disease: HOYERAAL-HREIDARSSON SYNDROME
HOYERAAL-HREIDARSSON SYNDROME 		16 0 10 0.43 0 0
CUI: C3814530
Disease: Skin Vesicle
Skin Vesicle 		20 0 11 0.42 0 0
CUI: C1856749
Disease: Aplastic/hypoplastic toenail
Aplastic/hypoplastic toenail 		23 0 11 0.38 0 0
CUI: C4025838
Disease: Abnormality of the pharynx
Abnormality of the pharynx 		23 0 11 0.38 0 0
CUI: C4023400
Disease: Generalized hypopigmentation of hair
Generalized hypopigmentation of hair 		6 0 6 0.35 0 0
CUI: C0152009
Disease: White blood cell abnormality
White blood cell abnormality 		8 0 6 0.32 0 0
CUI: C0263498
Disease: Premature canities
Premature canities 		33 0 12 0.32 0 0
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology 		29 0 11 0.31 0 0
CUI: C4024737
Disease: Aplasia/Hypoplasia of the skin
Aplasia/Hypoplasia of the skin 		29 0 11 0.31 0 0
CUI: C1855204
Disease: Cellular immunodeficiency
Cellular immunodeficiency 		30 0 11 0.31 0 0
CUI: C4025900
Disease: Abnormality of female internal genitalia
Abnormality of female internal genitalia 		31 0 11 0.30 0 0
CUI: C4727832
Disease: Telomere Syndrome
Telomere Syndrome 		5 0 5 0.29 0 0
CUI: C4551650
Disease: Esophageal Stricture
Esophageal Stricture 		20 2 8 0.28 1 0.33
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		17 0 7 0.26 0 0
CUI: C2675111
Disease: Abnormal eyelash morphology
Abnormal eyelash morphology 		39 0 11 0.24 0 0
CUI: C0266039
Disease: Taurodontism
Taurodontism 		40 0 11 0.24 0 0
CUI: C1851970
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 		4 0 4 0.24 0 0
CUI: C0041974
Disease: Urethral Stenosis
Urethral Stenosis 		41 0 11 0.23 0 0
CUI: C0085660
Disease: Aseptic necrosis
Aseptic necrosis 		41 0 11 0.23 0 0
CUI: C3887513
Disease: Avascular necrosis
Avascular necrosis 		41 0 11 0.23 0 0
CUI: C4553018
Disease: Avascular Necrosis, CTCAE
Avascular Necrosis, CTCAE 		41 0 11 0.23 0 0
CUI: C2986691
Disease: Inherited bone marrow failure syndrome
Inherited bone marrow failure syndrome 		11 0 5 0.22 0 0
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule 		59 0 13 0.21 0 0