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: C1846142
Disease: HOYERAAL-HREIDARSSON SYNDROME
HOYERAAL-HREIDARSSON SYNDROME 		16 0 10 0.43 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: C0014866
Disease: Esophageal Stenosis
Esophageal Stenosis 		17 0 7 0.26 0 0
CUI: C1851970
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 		4 0 4 0.24 0 0
CUI: C4727832
Disease: Telomere Syndrome
Telomere Syndrome 		5 0 4 0.22 0 0
CUI: C2986691
Disease: Inherited bone marrow failure syndrome
Inherited bone marrow failure syndrome 		11 0 5 0.22 0 0
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		58 146 13 0.21 25 0.16
CUI: C0239804
Disease: White hair
White hair 		18 0 6 0.21 0 0
CUI: C0016038
Disease: Fibroelastosis
Fibroelastosis 		7 0 4 0.20 0 0
CUI: C4020958
Disease: Rough bone trabeculation
Rough bone trabeculation 		19 0 6 0.20 0 0
CUI: C3814530
Disease: Skin Vesicle
Skin Vesicle 		20 0 6 0.19 0 0
CUI: C1856749
Disease: Aplastic/hypoplastic toenail
Aplastic/hypoplastic toenail 		23 0 6 0.18 0 0
CUI: C4025838
Disease: Abnormality of the pharynx
Abnormality of the pharynx 		23 0 6 0.18 0 0
CUI: C4024890
Disease: Excessive wrinkled skin
Excessive wrinkled skin 		25 0 6 0.17 0 0
CUI: C0263498
Disease: Premature canities
Premature canities 		33 4 7 0.16 1 2.8E-02
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology 		29 0 6 0.15 0 0
CUI: C4024737
Disease: Aplasia/Hypoplasia of the skin
Aplasia/Hypoplasia of the skin 		29 0 6 0.15 0 0
CUI: C0241984
Disease: Honeycomb lung
Honeycomb lung 		14 0 4 0.15 0 0
CUI: C4476639
Disease: Ground-glass opacification on pulmonary HRCT
Ground-glass opacification on pulmonary HRCT 		14 0 4 0.15 0 0
CUI: C4476748
Disease: Reticular pattern on pulmonary HRCT
Reticular pattern on pulmonary HRCT 		14 0 4 0.15 0 0
CUI: C1855204
Disease: Cellular immunodeficiency
Cellular immunodeficiency 		30 0 6 0.15 0 0
CUI: C1851972
Disease: Reticular hyperpigmentation
Reticular hyperpigmentation 		7 0 3 0.14 0 0
CUI: C4025900
Disease: Abnormality of female internal genitalia
Abnormality of female internal genitalia 		31 0 6 0.14 0 0
CUI: C0150993
Disease: Pitting of nails
Pitting of nails 		8 0 3 0.14 0 0