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: C0014866
Disease: Esophageal Stenosis
Esophageal Stenosis 		17 0 11 0.38 0 0
CUI: C0239804
Disease: White hair
White hair 		18 0 11 0.37 0 0
CUI: C4020958
Disease: Rough bone trabeculation
Rough bone trabeculation 		19 0 11 0.35 0 0
CUI: C3814530
Disease: Skin Vesicle
Skin Vesicle 		20 0 11 0.34 0 0
CUI: C4025838
Disease: Abnormality of the pharynx
Abnormality of the pharynx 		23 0 11 0.31 0 0
CUI: C3553754
Disease: Absent toe
Absent toe 		8 0 7 0.29 0 0
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology 		29 0 11 0.27 0 0
CUI: C4024737
Disease: Aplasia/Hypoplasia of the skin
Aplasia/Hypoplasia of the skin 		29 0 11 0.27 0 0
CUI: C1855204
Disease: Cellular immunodeficiency
Cellular immunodeficiency 		30 0 11 0.26 0 0
CUI: C2931779
Disease: Congenital defect of skull and scalp
Congenital defect of skull and scalp 		6 0 6 0.26 0 0
CUI: C1846142
Disease: HOYERAAL-HREIDARSSON SYNDROME
HOYERAAL-HREIDARSSON SYNDROME 		16 0 8 0.26 0 0
CUI: C4025900
Disease: Abnormality of female internal genitalia
Abnormality of female internal genitalia 		31 0 11 0.26 0 0
CUI: C0263498
Disease: Premature canities
Premature canities 		33 0 11 0.24 0 0
CUI: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome 		9 0 6 0.23 0 0
CUI: C4727832
Disease: Telomere Syndrome
Telomere Syndrome 		5 0 5 0.22 0 0
CUI: C2675111
Disease: Abnormal eyelash morphology
Abnormal eyelash morphology 		39 0 11 0.22 0 0
CUI: C0266039
Disease: Taurodontism
Taurodontism 		40 0 11 0.21 0 0
CUI: C4023400
Disease: Generalized hypopigmentation of hair
Generalized hypopigmentation of hair 		6 0 5 0.21 0 0
CUI: C0041974
Disease: Urethral Stenosis
Urethral Stenosis 		41 0 11 0.21 0 0
CUI: C0085660
Disease: Aseptic necrosis
Aseptic necrosis 		41 0 11 0.21 0 0
CUI: C3887513
Disease: Avascular necrosis
Avascular necrosis 		41 0 11 0.21 0 0
CUI: C4553018
Disease: Avascular Necrosis, CTCAE
Avascular Necrosis, CTCAE 		41 0 11 0.21 0 0
CUI: C1844554
Disease: Absent fingernail
Absent fingernail 		19 0 7 0.20 0 0
CUI: C0152009
Disease: White blood cell abnormality
White blood cell abnormality 		8 0 5 0.19 0 0
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		17 0 6 0.18 0 0